Читать книгу Genetic Disorders and the Fetus - Группа авторов - Страница 70

1 1. Ferreira CR. The burden of rare diseases. Am J Med Genet A 2019; 179A:885.

2 2. Online Mendelian Inheritance in Man, OMIM®. McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), 2008. https://www.researchgate.net/publication/23307013_McKusick%27s_online (accessed September 18, 2020).

3 3. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020; 28:165.

4 4. Bick D, Jones M, Taylor SL, et al. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet 2019; 56:783.

5 5. Bhide P, Kar A. A national estimate of the birth prevalence of congenital anomalies in India: systematic review and meta‐analysis. BMC Pediatrics 2018; 18:175.

6 6. Chaabane S, Bérard A. Epidemiology of major congenital malformations with specific focus on teratogens. Curr Drug Saf 2013; 8:128.

7 7. Straub L, Huybrechts KF, Bateman BT, et al. The impact of technology on the diagnosis of congenital malformations. Am J Epidemiol 2019; 188:1892.

8 8. Ropers H. Genetics of early onset cognitive impairment. Hum Genet 2010; 11:161.

9 9. Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med 2012; 366:733.

10 10. Coffman KA, Borgatti R. Finding a common path to the assessment of persons with intellectual development disorders. Neurology 2020; 94:507.

11 11. Kvarnung M, Nordgen A. Intellectual disability and rare disorders: a diagnostic challenge. Adv Exp Med Biol 2017; 1031:39.

12 12. European Organisation for Rare Disease (EURORDIS). What is a rare disease? http://www.eurordis.org

13 13. Murphy SL, Mathews TJ, Martin JA, et al. Annual summary of vital statistics: 2013–2014. Pediatrics 2017; 139:e20163239.

14 14. Martin RH, Ko E, Rademaker A. Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes. Am J Med Genet 1991; 39:321.

15 15. Fragouli E, Alfarawati S, Goodall NN, et al. The cytogenetics of polar bodies: insights into female meiosis and the diagnosis of aneuploidy. Mol Hum Reprod 2011; 17:286.

16 16. Pellestor F, Andreo B, Arnal F, et al. Maternal aging and chromosomal abnormalities: New data drawn from in vitro unfertilized human oocytes. Hum Genet 2003; 112:195.

17 17. Fragouli E, Escalona A. Gutierrez‐Mateo C., et al. Comparative genomic hybridization of oocytes and first polar bodies from young donors. Hum Genet Reprod Biomed Online 2009; 19:228.

18 18. Fragouli E, Katz‐Jaffe M, Alfarawati S, et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril 2010; 94:875.

19 19. Hassold T, Hall H, Hunt P. The origin of human aneuploidy: Where we have been, where we are going? Hum Mol Genet 2007; 16:R203.

20 20. Martin RH, Ko E, Barclay L. Human sperm karyotypes. In: Verma RS, Babu A, eds. Human chromosomes: manual of basic techniques. New York: McGraw‐Hill, 1994:56.

21 21. Plachot M. Chromosome analysis of oocytes and embryos. In: Verlinsky Y, Kuliev A, eds. Preimplantation genetics. New York: Plenum Press, 1991:103.

22 22. Boué J, Boué A, Lazar P. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 1975; 12:11.

23 23. Liu J, Wang W, Sun X, et al. DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic. Biol Reprod 2012; 87:148.

24 24. Mertzanidou A, Wilton L, Cheng J, et al. Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Hum Reprod 2013; 28:256.

25 25. Alberman ED, Creasy MR. Frequency of chromosomal abnormalities in miscarriages and perinatal deaths. J Med Genet 1977; 14:313.

26 26. Holmes‐Seidle M, Ryyvanen M, Lindenbaum RH. Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenat Diagn 1987; 7:239.

27 27. Martinez‐Frias ML, Bermejo E, Cereijo A, et al. Epidemiological aspects of Mendelian syndromes in a Spanish population sample. II. Autosomal recessive malformation syndromes. Am J Med Genet 1991; 38:626.

28 28. Njoh J, Chellaram R, Ramas L. Congenital abnormalities in Liberian neonates. West Afr J Med 1991; 10:439.

29 29. Verma IC. Burden of genetic disorders in India. Indian J Pediatr 2001; 67:893.

30 30. Lie RT, Wilcox AJ, Skjaerven R. Survival and reproduction among males with birth defects and risk of recurrence in their children. JAMA 2001; 285:755.

31 31. Queisser‐Luft A, Stolz G, Wiesel A, et al. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998). Arch Gynecol Obstet 2002; 266:163.

32 32. Canfield MA, Mai CT, Wang Y, et al. The association between race/ethnicity and major birth defects in the United States, 1999–2007. Am J Public Health 2014; 104:e14.

33 33. Baird PA, Anderson TW, Newcombe HB, et al. Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988; 42:677.

34 34. Blencowe H, Moorthie S, Petrou M, et al. Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. J Community Genet 2018; 9:397.

35 35. Woods CG, Cox J, Springell K, et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 2006; 78:889.

36 36. Milunsky A. The prevention of genetic disease and mental retardation. Philadelphia: WB Saunders, 1975.

37 37. Myrianthopoulos NC. Malformations in children from one to seven years. New York: Alan R. Liss, 1985.

38 38. Braverman AC, Güven H, Beardslee MA, et al. The bicuspid aortic valve. Curr Probl Cardiol 2005; 30:470.

39 39. Williams DS. Bicuspid aortic valve. J Insur Med 2006; 38:72.

40 40. Debiec R, Sall H, Samani NJ, et al. Genetic insights into bicuspid aortic valve disease. Cardiol Rev 2017; 25:158.

41 41. Freeze SL, Landis BJ, Ware SM, et al. Bicuspid aortic valve: A review with recommendations for genetic counseling. J Genet Counsel 2016; 25:1171.

42 42. Delling FN, Vasan RS. Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics and molecular basis. Circulation 2014; 129:2158.

43 43. Marelli AJ, Ionescu‐Ittu R, Mackie AS, et al. Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010. Circulation 2014; 130:749.

44 44. Reller MD, Strickland MJ, Riehle‐Colarusso T, et al. Prevalence of congenital heart defects in metropolitan Atlanta, 1998–2005. J Pediatr 2008; 153:807.

45 45. Moons P, Sluysmans T, De Wolf D, et al. Congenital heart disease in 111,225 births in Belgium: birth prevalence, treatment and survival in the 21st century. Acta Paediatr 2009; 98:472.

46 46. Morris JK, Wellesley DG, Barisic I, et al. Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population‐based EUROCAT study. Arch Dis Child 2019; 104:1181.

47 47. Sigmon ER, Kelleman M, Susi A, et al. Congenital heart disease and autism: a case‐control study. Pediatrics 2019; 144:pii e20184114.

48 48. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39:1890.

49 49. Pierpont ME, Brueckner M, Chung WK, et al. Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association. Circulation 2018; 138:e653.

50 50. Wang Y, Cao L, Liang D, et al. Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study. Am J Obstet Gynecol 2018; 218(2):244.e1.

51 51. Cowan JR, Ware SM. Genetics and genetic testing in congenital heart disease. Clin Perinatol 2015; 42:373.

52 52. Jin SC, Homsy J, Zaidi S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 2017; 49:1593.

53 53. Tinker SC, Gilboa SM, Moore CA, et al. Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997–2011. Am J Obstet Gynecol 2020; 222:176.e1.

54 54. Stothard KJ, Tennant PW, Bell R, et al. Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta‐analysis. JAMA 2009; 301:636.

55 55. Watkins ML, Rasmussen SA, Honein MA, et al. Maternal obesity and risk for birth defects. Pediatrics 2003; 111:1152.

56 56. Moore LL, Singer MR, Bradlee ML, et al. A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology 2000; 11:689.

57 57. Moore LL, Bradlee ML, Singer MR, et al. Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol 2002; 155:719.

58 58. Correa A, Marcinkevage J. Prepregnancy obesity and the risk of birth defects: an update. Nutr Rev 2013; 71(Suppl 1):S68.

59 59. Gao LJ, Wang ZP, Lu QB, et al. Maternal overweight and obesity and the risk of neural tube defects: a casecontrol study in China. Birth Defects Res A Clin Mol Teratol 2013; 97:161.

60 60. Madsen NL, Schwartz SM, Lewin MB, et al. Prepregnancy body mass index and congenital heart defects among offspring: a population‐based study. Congenit Heart Dis 2013; 8:131.

61 61. Josefsson A, Bladh M, Wiréhn A‐B, et al. Risk for congenital malformations in offspring of women who have undergone bariatric surgery: a national cohort. BJOG 2013; 120:1477.

62 62. McMahon DM, Liu J, Zhang H, et al. Maternal obesity, folate intake, and neural tube defects in offspring. Birth Defects Res A Clin Mol Teratol 2013; 97:115.

63 63. Mills JL, Troendle J, Conley MR, et al. Maternal obesity and congenital heart defects: a population‐based study. Am J Clin Nutr 2010; 91:1543.

64 64. Persson M, Cnattingius S, Villamor E, et al. Risk of major congenital malformation in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons. BMJ 2017; 357:j2563.

65 65. Zheng Z, Yang T, Chen L, et al. Increased maternal body mass index is associated with congenital heart defects: an updated meta‐analysis of observational studies. Int J Cardiol 2018; 273:112.

66 66. Block SR, Watkins SM, Salemi JL, et al. Maternal prepregnancy body mass index and risk of selected birth defects: evidence of a dose–response relationship. Paediatr Perinat Epidemiol 2013; 27:521.

67 67. Cai GJ, Sun XX, Zhang L, et al. Association between maternal body mass index and congenital heart defects in offspring: a systematic review. Am J Obstet Gynecol 2014; 211:91.

68 68. Milunsky A. Glucose intolerance in the parents of children with Down's syndrome. Am J Mental Def 1970; 74:475.

69 69. Biggio JR Jr, Chapman V, Neely C, et al. Fetal abnormalities in obese women: the contribution of diabetes. Obstet Gynecol 2010; 115:290.

70 70. Auger N, Bilodeau‐Bertrand M, Tith RM, et al. Bariatric surgery and the risk of congenital anomalies in subsequent pregnancies. Am J Clin Nutr 2019; 110:1168.

71 71. Benjamin RH, Littlejohn S, Mitchell LE. Bariatric surgery and birth defects: a systematic literature review. Paediatr Perinat Epidemiol 2018; 32:533.

72 72. Neovius M, Pasternak B, Näslund I, et al. Association of maternal gastric bypass surgery with offspring birth defects. JAMA 2019; 322:1515.

73 73. Wang M, Wang, ZP, Gao LJ, et al. Maternal body mass index and the association between folic acid supplements and neural tube defects. Acta Paediatr 2013; 102:908.

74 74. Lam PK, Torfs C, Brand RJ. A low pregnancy body mass index is a risk factor for an offspring with gastroschisis. Epidemiology 1999; 10(6):717.

75 75. Anderson JE, Galganski LA, Cheng Y, et al. Epidemiology of gastroschisis: a population‐based study in California from 1995–2012. J Pediatr Surg 2018; 53:2399.

76 76. Perry MF, Mulcahy H, DeFranco EA. Influence of periconception smoking behavior on birth defect risk. Am J Obstet Gynecol 2019; 220:588.e1.

77 77. Hackshaw A, Rodeck C, Boniface S. Maternal smoking in pregnancy and birth defects: a systemic review based on 173,687 malformed cases and 11.7 million controls. Hum Reprod Update 2011; 17:589.

78 78. Vu LT, Nobuhara KK, Laurent C, et al. Increasing prevalence of gastroschisis: population‐based study in California. J Pediatr 2008; 152:807.

79 79. Alberto G, Barbero P, Liascovich R, et al. Congenital limb reduction defects in 1.6 million births in Argentina. Am J Med Genet A 2020; 182:1084.

80 80. Yang L, Liu X, Li Z, et al. Genetic aetiology of early infant deaths in a neonatal intensive care unit. J Med Genet 2020; 57:169.

81 81. Power S, Meaney S, O'Donoghue K. The incidence of fatal anomalies associated with perinatal mortality in Ireland. Prenat Diagn 2020; 40:549.

82 82. Galjaard H. Genetic metabolic diseases: early diagnosis and prenatal analysis. Amsterdam: Elsevier/North‐Holland, 1980.

83 83. Scriver CR, Neal JL, Saginur R, et al. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J 1973; 108:1111.

84 84. Khokha MK, Mitchell LE, Wallingford JB. White paper on the study of birth defects. Birth Defects Res 2017; 109:180.

85 85. Brent RL. The magnitude of the problem of congenital malformations. In: Marois M, ed. Prevention of physical and mental congenital defects. Part A: The scope of the problem. New York: Alan R. Liss, 1985:55.

86 86. Brent R. Environmental causes of human congenital malformations. Prog Obstet Gynecol 2008; 5:61.

87 87. Milunsky A, Jick H, Jick SS, et al. Multivitamin/folic acid supplementation in the earliest weeks of pregnancy reduces the prevalence of neural tube defects. JAMA 1989; 262:2847.

88 88. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991; 338:131.

89 89. Ray JG, Meier C, Vermeulen MJ, et al. Association of neural tube defects and folic acid food fortification in Canada. Lancet 2002; 360:2047.

90 90. Rasmussen SA, Moore CA, Paulozzi LJ, et al. Risk for birth defects among premature infants: a population based study. J Pediatr 2001; 138:668.

91 91. Adams‐Chapman I, Hensen NI, Shankaran S, et al. Ten‐year review of major birth defects in VLBW infants. Pediatrics 2013; 132:49.

92 92. Toufaily MH, Westgate M, Lin AE, et al. Causes of congenital malformations. Birth Defects Res 2018; 110:87.

93 93. Glinianaia SV, Rankin J, Wright C. Congenital anomalies in twins: a register‐based study. Hum Reprod 2008; 23:1306.

94 94. Yu Y, Cozen W, Hwang AE, et al. Birth anomalies in monozygotic and dizygotic twins: results from the California Twin Registry. J Epidemiol 2019; 29:18.

95 95. Lie RT, Wilcox AJ, Skjaerven R. Survival and reproduction among males with birth defects and risk of recurrence in their children. JAMA 2001; 285:755.

96 96. Mangones T, Manhas A, Visintainer P, et al. Prevalence of congenital cardiovascular malformations varies by race and ethnicity. Int J Cardiol 2010; 143:317.

97 97. Kucik JE, Alverson CJ, Gilboa SM, et al. Racial/ethnic variations in the prevalence of selected major birth defects, metropolitan Atlanta, 1994–2005. Public Health Rep 2012; 127:52.

98 98. Su PY, Huang L, Hao JH, et al. Maternal thyroid function in the first twenty weeks of pregnancy and subsequent fetal and infant development: a prospective population‐based cohort study in China. J Clin Endocrinol Metab 2011; 96:3234.

99 99. Huget‐Penner S, Feig DS. Maternal thyroid disease and its effects on the fetus and perinatal outcomes. Prenatal Diag 2020; 40:1077.

100 100. Stoll C, Dott B, Alembik Y, et al. Congenital anomalies associated with congenital hypothyroidism. Ann Genet 1999; 42:17.

101 101. Olafsson E, Hallgrimsson JT, Hauser WA, et al. Pregnancies of women with epilepsy: a population‐based study in Ireland. Epilepsia 1998; 39:887.

102 102. Weston J, Bromley R, Jackson CF, et al. Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child. Cochrane Database Syst Rev 2016; 11:CD010224.

103 103. Shechter‐Maor G, Czuzoj‐Shulman N, Spence AR, et al. The effect of assisted reproductive technology on the incidence of birth defects among livebirths. Arch Gynecol Obstet 2018; 297:1397.

104 104. Lupo PJ, Schraw JM, Desrosiers TA, et al. Association between birth defects and cancer risk among children and adolescents in a population‐based assessment of 10 million live births. JAMA Oncol 2019; 5:1150.

105 105. Rasmussen SA, Wong LY, Yang Q, et al. Population based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003; 111:777.

106 106. Goel N, Morris JK, Tucker D, et al. Trisomy 13 and 18 – prevalence and mortality – a multi‐registry population based analysis. Am J Med Genet A 2019; 179:2382.

107 107. DeGalan‐Roosen AE, Kuijpers JC, Meershoek AP, et al. Contribution of congenital malformations to perinatal mortality: a 10 years prospective regional study in The Netherlands. Eur J Obstet Gynecol Reprod Biol 1998; 80:55.

108 108. Dastgiri S, Gilmour WH, Stone DH. Survival of children born with congenital anomalies. Arch Dis Child 2003; 88:391.

109 109. Liu S, Joseph KS, Wen SW. Trends in fetal and infant deaths caused by congenital anomalies. Semin Perinatol 2002; 26:268.

110 110. Stoll C, Alembik Y, Dott B, et al. Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet 2002; 45;115.

111 111. de Vigan C, Khoshnood B, Cadio E, et al. Prenatal diagnosis and prevalence of Down syndrome in the Parisian population, 2001–2005. Gynecol Obstet Fertil 2008; 36:146.

112 112. Iliyasu Z, Gilmour WH, Stone DH. Prevalence of Down syndrome in Glasgow, 1980–96: the growing impact of prenatal diagnosis on younger mothers. Health Bull (Edinb) 2002; 60:20.

113 113. Weijerman ME, van Furth AM, Vonk Noordegraaf A, et al. Prevalence, neonatal characteristics and first‐year mortality of Down syndrome: a national study. J Pediatr 2008; 152:15.

114 114. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down Syndrome in the United States. Genet Med 2017; 19:439.

115 115. Presson AP, Partyka G, Jensen KM, et al. Current estimate of Down syndrome population prevalence in the United States. J Pediatr 2013; 163:1163.

116 116. Stoll C, Dott B, Alembik Y, et al. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet 2015; 58:674.

117 117. Sasaki A, Sago H. Equipoise of recent estimated Down syndrome live births in Japan. Am J Med Genet 2019; 179A:1815.

118 118. Migliore L, Migheli F, Coppedè F. Susceptibility to aneuploidy in young mothers of Down syndrome children. Scientific World Journal 2009; 9:1052.

119 119. Lie RT, Heuch I, Irgens LM. A temporary increase of Down syndrome among births of young mothers in Norway: an effect of risk unrelated to maternal age? Genet Epidemiol 1991; 8:217.

120 120. Erickson JD. Down syndrome, paternal age, maternal age and birth order. Ann Hum Genet 1978; 41:289.

121 121. Egan JF, Smith K, Timms D, et al. Demographic differences in Down syndrome livebirths in the US from 1989 to 2006. Prenat Diagn 2011; 31:389.

122 122. Sparks TN, Norton ME, Flessel M, et al. Observed rate of Down syndrome in twin pregnancies. Obstet Gynecol 2016; 128:1127.

123 123. Masaki M, Higurashi M, Iijima K, et al. Mortality and survival for Down syndrome in Japan. Am J Hum Genet 1981; 33:629.

124 124. Dupont A, Vaeth M, Videbech P. Mortality and life expectancy of Down's syndrome in Denmark. J Ment Defic Res 1986; 30:111.

125 125. Fryers T. Survival in Down's syndrome. J Ment Defic Res 1986; 30:101.

126 126. Malone Q. Mortality and survival of the Down's syndrome population in Western Australia. J Ment Defic Res 1988; 32:59.

127 127. Baird PA, Sadovnick AD. Life expectancy in Down syndrome adults. Lancet 1988; 2:1354.

128 128. Baird PA, Sadovnick AD. Life tables for Down syndrome. Hum Genet 1989; 82:291.

129 129. Strauss D, Eyman RK. Mortality of people with mental retardation in California with and without Down syndrome, 1986–1991. Am J Ment Retard 1996; 100:643.

130 130. Wu J, Morris JK. The population prevalence of Down's syndrome in England and Wales in 2011. Eur J Hum Genet 2013; 21:1016.

131 131. Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population‐based study. Lancet 2002; 359:1019.

132 132. Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukemia and solid tumours in individuals with Down's syndrome. Lancet 2000; 355:165.

133 133. Roizen NJ, Patterson D. Down's syndrome. Lancet 2003; 361:1281.

134 134. Matsunaga S, Imakiire T, Koga H, et al. Occult spinal canal stenosis due to C‐1 hypoplasia in children with Down syndrome. J Neurosurg 2007; 107:457.

135 135. Anwar AJ, Walker JD, Frier BM. Type 1 diabetes mellitus and Down's syndrome: prevalence, management and diabetic complications. Diabet Med 1998; 15:160.

136 136. Menéndez M. Down syndrome, Alzheimer's disease and seizures. Brain Dev 2005; 27:246.

137 137. Patja K, Pukkala E, Sund R, et al. Cancer incidence of persons with Down syndrome in Finland: a population‐based study. Int J Cancer 2006; 118:1769.

138 138. Hill DA, Gridley G, Cnattingius S, et al. Mortality and cancer incidence among individuals with Down syndrome. Arch Intern Med 2003; 163:705.

139 139. Malt EA, Dahl RC, Haugsand TM, et al. Health and disease in adults with Down syndrome. Tidsskr Nor Laegeforen 2013; 133:290.

140 140. Kosashvili Y, Taylor D, Backstein D, et al. Total hip arthroplasty in patients with Down syndrome. Orthopedics 2010; 33:629.

141 141. Weijerman ME, de Winter JP. The care of children with Down syndrome. Eur J Pediatr 2010; 169:1445.

142 142. Kobayashi T, Sakemi Y, Yamashita H. Increased incidence of retroperitoneal teratomas and decreased incidence of sacrococcygeal teratomas in infants with Down syndrome. Pediatr Blood Cancer 2014; 61:363.

143 143. De Simone R, Puig XS, Gélisse P, et al. Senile myoclonic epilepsy: delineation of a common condition associated with Alzheimer's disease in Down syndrome. Seizure 2010; 19:383.

144 144. Tenenbaum A, Chavkin M, Wexler I, et al. Morbidity and hospitalizations of adults with Down syndrome. Res Dev Disabil 2012; 33:435.

145 145. Mårlid K, Stephansson O, Grahnquist L, et al. Down syndrome is associated with elevated risk of celiac disease: a nationwide case‐control study. J Pediatr 2013; 163:237.

146 146. Satgé D, Sasco AJ, Day S, et al. A lower risk of dying from urological cancer in Down syndrome: clue for cancer protecting genes on chromosome 21. Urol Int 2009; 82:296.

147 147. Hasle H, Friedman JM, Olsen JH, et al. Low risk of solid tumors in persons with Down syndrome. Genet Med 2016; 18(11):1151.

148 148. Määttä T, Määttä J, Tervo‐Määttä T, et al. Healthcare and guidelines: a population based survey of recorded medical problems and health surveillance for people with Down syndrome. J Intellect Dev Disabil 2011; 36:118.

149 149. de Carvalho M, Swash M. Neurologic complications of craniovertebral dislocation. Handb Clin Neurol 2014; 119:435.

150 150. Hithersay R, Startin CM, Hamburg S, et al. Association of dementia with mortality among adults with Down syndrome older than 35 years. JAMA Neurol 2019; 76:152.

151 151. Satgé D, Seidel MG. The pattern of malignancies in Down syndrome and its potential context with the immune system. Front Immunol 2018; 9:3058.

152 152. Morris JK, Garne E, Wellesley D, et al. Major congenital anomalies in babies born with Down syndrome: a EUROCAT population‐based registry study. Am J Med Genet 2014; 164A:2979.

153 153. Ghezzo A, Salvioli S, Solimando MC, et al. Age related changes of adaptive and neuropsychological features in persons with Down syndrome. PLoS One 2014; 9:e113111.

154 154. Hartley D, Blumenthal T, Carrillo M, et al. Down syndrome and Alzheimer's disease: common pathways, common goals. Alzheimers Dement 2015; 11:700.

155 155. Kinnear D, Morrison J, Allan L, et al. Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross‐sectional study. BMJ Open 2018; 8:e018292.

156 156. Ludvigsson JF, Lebwohl B, Green PHR, et al. Celiac disease and Down syndrome mortality: a nationwide cohort study. BMC Pediatr 2017; 17:41.

157 157. Oxelgren UW, Myrelid A, Annerén G, et al. Prevalence of autism and attention‐deficit‐hyperactivity disorder in Down syndrome: a population‐based study. Dev Med Child Neurol 2017; 59:276.

158 158. Palaska PK, Antonarakis GS. Prevalence and patterns of permanent tooth agenesis in individuals with Down syndrome: a meta‐analysis. Eur J Oral Sci 2016; 124:317.

159 159. Santoro SL, Cannon S, Capone G, et al. Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genet Med 2020; 22(4):767.

160 160. Cuoghi OA, Topolski F, de Faria LP, et al. Prevalence of dental anomalies in permanent dentition of Brazilian individuals with Down syndrome. Open Dent J 2016; 10:469.

161 161. Garg A, Strunk A, Midura M, et al. Prevalence of hidradenitis suppurativa among patients with Down syndrome: a population‐based cross‐sectional analysis. Br J Dermatol 2018; 178:697.

162 162. Giménez S, Videla L, Romero S, et al. Prevalence of sleep disorders in adults with Down syndrome: a comparative study of self‐reported, actigraphic, and polysomnographic findings. J Clin Sleep Med 2018; 14:1725.

163 163. Hamilton J, Yaneza MMC, Clement WA, et al. The prevalence of airway problems in children with Down's syndrome. Int J Pediatr Otorhinolaryngol 2016; 81:1.

164 164. Sinai A, Mokrysz C, Bernal J, et al. Predictors of age of diagnosis and survival of Alzheimer's disease in Down syndrome. J Alzheimers Dis 2018; 61:717.

165 165. Whooten R, Schmitt J, Schwartz A. Endocrine manifestations of Down syndrome. Curr Opin Endocrinol Diabetes Obes 2018; 25:61.

166 166. Sheets KB, Crissman BG, Feist CD, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the National Society of Genetic Counselors. J Genet Counsel 2011; 20:432.

167 167. Milunsky A. The prenatal diagnosis of hereditary disorders. Springfield, IL: Charles C. Thomas, 1973.

168 168. American Society for Reproductive Medicine, American College of Obstetricians and Gynecologists' Committee on Gynecologic Practice. Prepregnancy counseling: Committee Opinion No. 762. Fertil Steril 2019; 111:32.

169 169. American College of Obstetricians and Gynecologists. Family history as a risk assessment tool. Obstet Gynecol 2011; 117:747.

170 170. Wilson RD. Genetic considerations for a woman's preconception evaluation. J Obstet Gynaecol Can 2011; 33:57.

171 171. Rubin SP, Malin J, Maidman J. Genetic counseling before prenatal diagnosis for advanced maternal age: an important medical safeguard. Obstet Gynecol 1983; 62:155.

172 172. Kessler S. Psychological aspects of genetic counseling. XIII. Empathy and decency. J Genet Couns 1999; 8:333.

173 173. Scheiper S, Ramos‐Luis E, Blanco‐Verea A, et al. Sudden unexpected death in the young – value of massive parallel sequencing in postmorten genetic analyses. Forensic Sci Int 2018; 293:70.

174 174. Spoonamore KG, Ware SM. Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias. Heart Rhythm 2019; 13:789.

175 175. Tang Y, Williams N, Sampson BA. Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective. Forensic Sci Med Pathol 2019; 15:481.

176 176. Tester DJ, Ackerman MJ. Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing. Cardiol Young 2017; 27:S19.

177 177. Tejada MI, Ibarluzea N. Non‐syndromic X‐linked intellectual disability: current knowledge in light of the recent advances in molecular and functional studies. Clin Genet 2020; 97:677.

178 178. Neri G, Schwartz CE, Lubs HA, et al. X‐linked intellectual disability update 2017. Am J Med Genet Part A 2018; 00:1.

179 179. López‐Rivera JA, Pérez‐Palma E, Symonds J, et al. A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain 2020; 143(4):1099.

180 180. Gnazzo M, Lepri FR, Dentici ML, et al. KBG syndrome: common and uncommon clinical features based on 31 new patients. Am J Med Genet A 2020; 182:1073.

181 181. McNeill A, Lewis R, Freeth M. Views of adults with 22q11 deletion syndrome on reproductive choices. Am J Med Genet A 2020; 182:1284.

182 182. Van L, Heung T, Graffi J, et al. All‐cause mortality and survival in adult with 22q11.2 deletion syndrome. Genet Med 2019; 21:2328.

183 183. Palmer LD, Butcher NJ, Boot E, et al. Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176:936.

184 184. Milunsky A. I didn't know, I didn't know: avoidable deaths and harm due to medical negligence. Amazon Createspace, 2018.

185 185. Milunsky A. Obstetrics, genetics and litigation. (in press).

186 186. Jayaraman D, Bae B, Walsh CA. The genetics of primary microcephaly. Annu Rev Genomics Hum Genet 2018; 19:177.

187 187. Shaheen R, Maddirevula S, Ewida N, et al. Genomic and phenotypic delineation of congenital microcephaly. Genet Med 2019; 21:545.

188 188. Boonsawat P, Joset P, Steindl K, et al. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genet Med 2019; 21:2043.

189 189. Zouvelou V, Yubero D, Apostolakopoulou L, et al. The genetic etiology in cerebral palsy mimics: the results from a Greek tertiary care center. Eur J Paediatr Neurol 2019; 23:427.

190 190. Matthews AM, Blydt‐Hansen I, Al‐Jabri B, et al. Atypical cerebral palsy: Genomics analysis enables precision medicine. Genet Med 2019; 21:1621.

191 191. Pearson TS, Pons R, Ghaoui R, et al. Genetic mimics of cerebral palsy. Mov Disord 2019; 34:625.

192 192. Harris R, Lane B, Harris H, et al. National Confidential Enquiry into counseling for genetic disorders by non‐geneticists: general recommendations and specific standards for improving care. Br J Obstet Gynaecol 1999; 106:658.

193 193. van Langen IM, Birnie E, Leschot NJ, et al. Genetic knowledge and counseling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J 2003; 24:560.

194 194. Rosas‐Blum E, Shirsat P, Leiner M. Communicating genetic information: a difficult challenge for future pediatricians. BMC Med Educ 2007; 7:17.

195 195. Harvey EK, Fogel CE, Peyrot M, et al. Providers' knowledge of genetics: a survey of 5915 individuals and families with genetic conditions. Genet Med 2007; 9:259.

196 196. Baars MJ, Henneman L, Ten Kate LP. Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists and pediatricians: a global problem. Genet Med 2005; 7:605.

197 197. Shaer CM, Chescheir N, Erickson K, et al. Obstetrician‐gynecologists' practice and knowledge regarding spina bifida. Am J Perinatol 2006; 23:355.

198 198. Haga SB, Burke W, Ginsburg GS, et al. Primary care physicians' knowledge of and experience with pharmacogenetic testing. Clin Genet 2012; 82:388.

199 199. Milunsky A. The “new genetics” in clinical practice: a brief primer. J Am Board Fam Med 2017; 30(3):377.

200 200. Committee on Genetics. Committee Opinion No. 693: Counseling about genetic testing and communication of genetic test results. Obstet Gynecol 2017; 129:e96.

201 201. Gordis L, Childs B, Roseman MG. Obstetricians' attitudes toward genetic screening. Am J Public Health 1977; 67:469.

202 202. Kessler S. Psychological aspects of genetic counseling. XII. More on counseling skills. J Genet Couns 1998; 7:263.

203 203. Milunsky A, Annas GJ. Genetics and the law. New York: Plenum Press, 1976.

204 204. Milunsky A, Annas GJ. Genetics and the law II. New York: Plenum Press, 1980.

205 205. Milunsky A, Annas GJ. Genetics and the law III. New York: Plenum Press, 1985.

206 206. Levetown M and the Committee on Bioethics. Communicating with children and families: from everyday interactions to skill in conveying distressing information. Pediatrics 2008; 121:e1441.

207 207. Forrest LE, Delatycki MB, Skene L, et al. Communicating genetic information in families – a review of guidelines and position papers. Eur J Hum Genet 2007; 15:612.

208 208. Phillips A, Niemiec E, Howard HC, et al. Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing. Eur J Hum Genet 2020; 28:1160.

209 209. Farrell M, Deuster L, Donovan J, et al. Pediatric residents' use of jargon during counseling about newborn genetic screening results. Pediatrics 2008; 122:243.

210 210. Welkenhuysen M, Evers‐Kiebooms G, d'Ydewalle G. The language of uncertainty in genetic risk communication: framing and verbal versus numerical information. Patient Educ Couns 2001; 43:179.

211 211. Benkendorf JL, Prince MB, Rose MA, et al. Does indirect speech promote nondirective genetic counseling? Results of a sociolinguistic investigation. Am J Med Genet 2001; 106:199.

212 212. Abramsky L, Fletcher O. Interpreting information: what is said, what is heard – a questionnaire study of health professionals and members of the public. Prenat Diagn 2002; 22:1188.

213 213. O'Doherty K, Suthers GK. Risky communication: pitfalls in counseling about risk and how to avoid them. J Genet Couns 2007; 16:409.

214 214. Palermo GD, O'Neill CL, Chow S, et al. Intracytoplasmic sperm injection: state of the art in humans. Reproduction 2017; 154(6):F93.

215 215. Hibi H, Sumitomo M, Fukunaga N, et al. Superior clinical pregnancy rates after microsurgical epididymal sperm aspiration. Reprod Med Biol 2018; 17(1):59.

216 216. Decety J. Empathy in medicine: what it is, and how much we really need it. Am J Med 2020; 133:561.

217 217. Looi JCL. Empathy and competence. Med J Aust 2008; 188:414.

218 218. Eden OB, Black I, MacKinlay GA, et al. Communication with parents of children with cancer. Palliat Med 1994; 8:105.

219 219. Turner J, Biesecker B, Leib J, et al. Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. Am J Med Genet A 2007; 143A:2089.

220 220. Hojat M, Mangione S, Nasca TJ, et al. The Jefferson Scale of Physician Empathy: development and preliminary psychometric data. Educ Psychol Meas 2001; 61:349.

221 221. Lehmann A, Speight BS, Kerzin‐Storrar L. Extended family impact of genetic testing: the experiences of X‐linked carrier grandmothers. J Genet Couns 2011; 20:365.

222 222. James CA, Hadley DW, Holtzman NA, et al. How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma and understanding of inheritance and reproductive risks in families with X‐linked and autosomal recessive diseases. Genet Med 2006; 8:234.

223 223. Targum SD. Psychotherapeutic considerations in genetic counseling. Am J Med Genet 1981; 8:281.

224 224. Kessler S, Kessler H, Ward P. Psychological aspects of genetic counseling. III. Management of guilt and shame. Am J Med Genet 1984; 17:673.

225 225. Hayden MR, Canadian Collaborative Study of Predictive Testing for HD. Predictive medicine for late onset disorders: the experience for Huntington disease. Am J Hum Genet 1991; 49:50.

226 226. Tibben A, Vegter‐van der Vlis M, Skraastad MI, et al. Presymptomatic DNA‐testing for Huntington disease in The Netherlands. Am J Hum Genet 1991; 49:316.

227 227. Craufurd D, Dodge A, Kerzin‐Storrar L, et al. Psychosocial impact of presymptomatic predictive testing for Huntington's disease. Am J Hum Genet 1991; 49:311.

228 228. Huggins M, Bloch M, Kanani S, et al. Ethical and legal dilemmas arising during predictive testing for adult‐onset disease: the experience of Huntington disease. Am J Hum Genet 1990; 47:4.

229 229. Folstein SE. Presymptomatic testing for Huntington's disease: outcome of 136 at‐risk persons who requested testing. Am J Hum Genet 1991; 49:62.

230 230. Wiggins S, Whyte P, Hayden M, et al. No harm, potential benefit: the one year follow‐up of participants in the Canadian Collaborative Study of Predictive Testing for Huntington's Disease. Am J Hum Genet 1991; 49:317.

231 231. Ravine D, Walker RG, Sheffield JL, et al. Experience of family screening for autosomal dominant polycystic kidney disease. Am J Hum Genet 1991; 49:50.

232 232. Baumiller RC, Comley S, Cunningham G, et al. Code of ethical principles for genetics professionals. Am J Med Genet 1996; 65:177.

233 233. Baumiller RC, Cunningham G, Fisher N, et al. Code of ethical principles for genetics professionals: an explication. Am J Med Genet 1996: 65:179.

234 234. Langfelder‐Schwind E, Kloza E, Sugerman E, et al. Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 2005; 14:1.

235 235. Rantanen E, Hietala M, Kristoffersson U, et al. What is ideal genetic counseling? A survey of current international guidelines. Eur J Hum Genet 2008; 16:445.

236 236. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole‐exome sequencing. JAMA 2014; 312:1870.

237 237. Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 2014; 312:1880.

238 238. Tan TY, Dillon OJ, Stark Z, et al. Diagnostic impact and cost‐effectiveness of whole‐exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr 2017; 171:855.

239 239. Li R, Fu F, Yu Q, et al. Prenatal exome sequencing in fetuses with congenital heart defects. Clin Genet 2020; 98:215.

240 240. Sabbagh R, Van den Veyver IB. The current and future impact of genome‐wide sequencing on fetal precision medicine. Hum Genet 2020; 139:1121.

241 241. Nigro V, Savarese M. Genetic basis of limb‐girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1.

242 242. Thomas RH, Berkovic SF. The hidden genetics of epilepsy – a clinically important new paradigm. Nat Rev Neurol 2014; 10:283.

243 243. Armand T, Schaefer E, Di Rocco F, et al. Genetic bases of craniosynostoses: an update. Neurochirurgie 2019; 65(5):196.

244 244. Passos‐Bueno MR, Serti Eacute AE, Jehee FS, et al. Genetics of craniosynostosis: genes, syndromes, mutations and genotype‐phenotype correlations. Front Oral Biol 2008; 12:107.

245 245. Paumard‐Hernandez B, Berges‐Soria J, Barroso E. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet 2015; 23(7):907.

246 246. Jezela‐Stanek A, Krajewska‐Walasek M. Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol 2013; 17:22.

247 247. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372:657.

248 248. Rossetti S, Harris PC. Genotype–phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol 2007; 18:1374.

249 249. Bergmann C, Brüchle NO, Frank V, et al. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N Engl J Med 2008; 359:318.

250 250. Rasmussen SA, Mulinare J, Khoury MJ, et al. Evaluation of birth defect histories obtained through maternal interviews. Am J Hum Genet 1990; 46:478.

251 251. Haxton MJ, Bell J. Fetal anatomical abnormalities and other associated factors in middle‐trimester abortion and their relevance to patient counseling. Br J Obstet Gynaecol 1983; 90:501.

252 252. Harper PS. Myotonic dystrophy, 2nd edn. London: WB Saunders, 1989.

253 253. Bergoffen J, Kant J, Sladky J, et al. Paternal transmission of congenital myotonic dystrophy. J Med Genet 1994; 31:518.

254 254. Wieringa B. Myotonic dystrophy reviewed: back to the future? Hum Mol Genet 1994; 3:1.

255 255. Shelbourne P, Winqvist R, Kunert E, et al. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet 1992; 1:467.

256 256. Brunner HG, Jansen G, Nillesen W, et al. Reverse mutation in myotonic dystrophy. N Engl J Med 1993; 328:476.

257 257. O'Hoy KL, Tsilfidis C, Mahadevan MS, et al. Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 1993; 259:809.

258 258. Brook JD. Retreat of the triplet repeat? Nat Genet 1993; 3:279.

259 259. Hunter AG, Jacob P, O'Hoy K, et al. Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counseling and genetic anticipation. Am J Med Genet 1993; 45:401.

260 260. Ashizawa T, Anvret M, Baiget M, et al. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 1994; 54:414.

261 261. Abeliovich D, Lerer I, Pashut‐Lavon I, et al. Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet 1993; 52:1175.

262 262. Ashizawa T, Dunne PW, Ward PA, et al. Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 1994; 44:120.

263 263. Fraser FC. Genetic counseling. Am J Hum Genet 1974; 26(5):636.

264 264. World Health Organization Expert Committee. Genetic counseling. WHO Tech Rep 1969; 416:1.

265 265. Wertz DC, Fletcher JC. Attitudes of genetic counselors: a multinational survey. Am J Hum Genet 1988; 42:592.

266 266. Wertz DC, Fletcher JC, Mulvihill JJ. Medical geneticists confront ethical dilemmas: cross‐cultural comparisons among 18 nations. Am J Hum Genet 1990; 46:1200.

267 267. Kessler S. Psychological aspects of genetic counseling. XI. Nondirectiveness revisited. Am J Med Genet 1997; 72:164.

268 268. Vanstone M, Kinsella EA, Nisker J. Information‐sharing to promote informed choice in prenatal screening in the spirit of the SOGC clinical practice guideline: a proposal for an alternative model. J Obstet Gynecol Can 2012; 34:269.

269 269. Pennacchini M, Pensieri C. Is non‐directive communication in genetic counseling possible? Clin Ter 2011; 162:e141.

270 270. Michie S, Bron F, Bobrow M, et al. Nondirectiveness in genetic counseling: an empirical study. Am J Hum Genet 1997; 60:40.

271 271. Clarke A. Is non‐directive genetic counseling possible? Lancet 1991; 338:998.

272 272. Milunsky A, Littlefield JW, Kanfer JN, et al. Prenatal genetic diagnosis. N Engl J Med 1970; 283:1370, 1441, 1498.

273 273. Super M. Non‐directive genetic counseling. Lancet 1991; 338:1266.

274 274. Pembrey M. Non‐directive genetic counseling. Lancet 1991; 338:1267.

275 275. Harris R, Hopkins A. Non‐directive genetic counseling. Lancet 1991; 338:1268.

276 276. Clarke A. Non‐directive genetic counseling. Lancet 1991; 338:1524.

277 277. Einhorn HJ, Hogarth RM. Behavioral decision theory: processes of judgment and choice. Annu Rev Psychol 1981; 32:53.

278 278. Simms M. Informed dissent: the view of some mothers of severely mentally handicapped young adults. J Med Ethics 1986; 12:72.

279 279. Simms M. Non‐directive genetic counseling. Lancet 1991; 338:1268.

280 280. Chang BS, Lowenstein DH. Epilepsy. N Engl J Med 2003; 349:1257.

281 281. Keeling SL. Duty to warn of genetic harm in breach of patient confidentiality. J Law Med 2004; 12:235.

282 282. Carnevale A, Lisker R, Villa AR, et al. Counseling following diagnosis of a fetal abnormality: comparison of different clinical specialists in Mexico. Am J Med Genet 1997; 69:23.

283 283. Williams C, Alderson P, Farsides B. Is nondirectiveness possible within the context of antenatal screening and testing? Soc Sci Med 2002; 54:339.

284 284. Johnston J, Farrell R, Parens E. Supporting women's autonomy in prenatal testing. N Engl J Med 2017; 377(6):505.

285 285. Wiering BM, Albada A, Bensing JM, et al. The influence of dispositional optimism on post‐visit anxiety and risk perception accuracy among breast cancer genetic counselees. Psychooncology 2013; 22:2419.

286 286. Hsia YE. Choosing my children's genes: genetic counseling. In: Lipkin M, Rowley PT, eds. Genetic responsibility. New York: Plenum Press, 1974: 43.

287 287. Pergament E, Pergament D. Reproductive decisions after fetal genetic counseling. Best Pract Res Clin Obstet Gynaecol 2012; 26:517.

288 288. Chapman MA. Predictive testing for adult‐onset genetic disease: ethical and legal implications of the use of linkage analysis for Huntington disease. Am J Hum Genet 1990; 47:1.

289 289. Dufrasne S, Roy M, Galvez M, et al. Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab 2011; 102:494.

290 290. Marteau TM, Nippert I, Hall S, et al. Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat Diagn 2002; 22:562.

291 291. Isidor B, Julia S, Saugier‐Veber P, et al. Searching for secondary findings: considering actionability and preserving the right not to know. Eur J Hum Genet 2019; 27:1481.

292 292. Ortega‐Recalde O, Beltrán OI, Gálvez JM, et al. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clin Genet 2015; 88:e1.

293 293. Chen R, Shi L, Hakenberg J, et al. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol 2016; 34:531.

294 294. Schindewolf E, Khalek N, Johnson MP, et al. Expanding the fetal phenotype: prenatal sonographic findings and perinatal outcomes in a cohort of patients with confirmed 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176:1735.

295 295. Rose NC, Benn P, Milunsky A. Current controversies in prenatal diagnosis: should NIPT routinely include microdeletions/microduplications? Prenat Diagn 2016; 36:10.

296 296. O'Connell O, Meaney S, O'Donoghue K. Anencephaly: the maternal experience of continuing with the pregnancy. Incompatible with life but not with love. Midwifery 2019; 71:12.

297 297. Skirton H. More than an information service: are counselling skills needed by genetic professionals in the genomic era? Eur J Hum Genet 2018; 26:1239.

298 298. Katz J. The silent world of doctor and patient. New York: Free Press, 1984.

299 299. Lantos JD. Should we always tell children the truth? Perspect Biol Med 1996; 40:78.

300 300. Wright CF, Parker M, Lucassen AM. When genomic medicine reveals misattributed genetic relationships – the debate about disclosure revisited. Genet Med 2019; 21:97.

301 301. Nuffield Council on Bioethics. Donor conception: ethical aspects of information sharing. London: Nuffield Council on Bioethics, 2013.

302 302. Bellis MA, Hughes K, Hughes S, et al. Measuring paternal discrepancy and its public health consequences. J Epidemiol Community Health 2005; 59:749.

303 303. Kayser M. Forensic use of Y‐chromosome DNA: a general overview. Hum Genet 2017; 136:621.

304 304. Avci E. Should physicians tell the truth without taking social complications into account? A striking case. Med Health Care Philos 2018; 21:23.

305 305. Brown K. Genetic counseling: legal issues surrounding nondisclosure of paternity. J Leg Med 2008; 29:345.

306 306. Hercher L, Jamal L. An old problem in a new age: revisiting the clinical dilemma of misattributed paternity. Appl Transl Genom 2016; 8:36.

307 307. Lowe G, Pugh J, Kahane G, et al. How should we deal with misattributed paternity? A survey of lay public attitudes. AJOB Empir Bioeth 2017; 8:234.

308 308. Prero MY, Strenk M, Garrett J, et al. Disclosure of misattributed paternity. Pediatrics 2019; 143:e20183899.

309 309. Beauchamp T, Childress J. Principles of biomedical ethics. Oxford: Oxford University Press, 2013.

310 310. Gert B, Culver CM, Clouser KD. Bioethics: a systematic approach, 2nd edn. New York: Oxford University Press, 2006.

311 311. Josen AR, Siegler M, Winslade WJ. Clinical ethics: a practical approach to ethical decisions in clinical medicine. New York: McGraw Hill, 2010.

312 312. Chico V. Reasonable expectations of privacy in non‐disclosure of familial genetic risk: what is it reasonable to expect? Eur J Med Genet 2019; 62:308.

313 313. Lucast EK. Informed consent and the mis attributed paternity problem in genetic counseling. Bioethics 2007; 21:41.

314 314. Weil J, Ormond K, Peters J, et al. The relationship of nondirectiveness to genetic counseling: report of a workshop at the 2003 NSGC Annual Education Conference. J Genet Couns 2006; 15:85.

315 315. American Medical Association. Code of Medical Ethics § 2.131 Disclosure of familial risk in genetic testing, 2014–2015. Chicago, IL: American Medical Association, 2015.

316 316. American Society of Human Genetics, Social Issues Subcommittee on Familial Disclosure. Professional disclosure of familial genetic information. Am J Hum Genet 1998; 62:474.

317 317. National Society of Genetic Counselors. NSGC Code of Ethics sec. II, pt. 7.

318 318. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. Screening and counseling for genetic conditions. Washington, DC: US Government Printing Office, 1983:478.

319 319. US Department of Health and Human Services, Office for Civil Rights. Standards for privacy of individually identifiable health information. Code of Federal Regulations vol. 45, parts 160, 164 (2002), as amended (2013).

320 320. Capron AM. Autonomy, confidentiality and quality care in genetic counseling. In: Capron AM, Lappe M, Murray RF, et al., eds. Genetic counseling: facts, values and norms. New York: Alan R. Liss, 1979:307.

321 321. Menko FH, Aalfs CM, Henneman L, et al. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Fam Cancer 2013; 12:319.

322 322. Lacroix M, Nycum G, Godard B, et al. Should physicians warn patients' relatives of genetic risk? Can Med Assoc J 2008; 178:593.

323 323. Van den Heuvel LM, Huisinga MJ, Hoedemaekers YM, et al. Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees. Eur J Hum Genet 2019; 27:1341.

324 324. Dove ES, Chico V, Fay M, et al. Familial genetic risks: How can we better navigate patient confidentiality and appropriate risk disclosure to relatives? J Med Ethics 2019; 45:504.

325 325. Dufrasne S, Roy M, Galvez M, et al. Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab 2011; 102:494.

326 326. Van Haecke DD, de Montgolfier S. Genetic diseases and information to relatives: practical and ethical issues for professionals after introduction of a legal framework in France. Eur J Hum Genet 2018; 26:786.

327 327. Falk MJ, Dugan RB, O'Riordan MA, et al. Medical geneticists' duty to warn at‐risk relatives for genetic disease. Am J Med Genet 2003; 120A:374.

328 328. Milunsky A. Genetic disorders and the fetus: diagnosis, prevention, and treatment, 2nd edn. New York: Plenum Press, 1986.

329 329. Milunsky A, Jick H, Jick SS, et al. Multivitamin/folic acid supplementation in the earliest weeks of pregnancy reduces the prevalence of neural tube defects. JAMA 1989; 262:2847.

330 330. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991; 338:131.

331 331. Milunsky A. Know your genes. Boston, MA: Houghton‐Mifflin, 1977.

332 332. Hsia YE, Hirschhorn K, Silverberg RL, et al. Counseling in genetics. New York: Alan R. Liss, 1979.

333 333. Lewis C, Mehta P, Kent A, et al. An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries. Eur J Hum Genet 2007; 15:1012.

334 334. Frets PG, Duivenvoorden HJ, Verhage F, et al. Factors influencing the reproductive decision after genetic counselling. Am J Med Genet 1990; 35:496.

335 335. Milunsky A. How to have the healthiest baby you can. New York: Simon & Schuster, 1987.

336 336. Kung JT, Gelbart, ME. Getting a head start: the importance of personal genetics education in high schools. Yale J Biol Med 2012; 85:87.

337 337. Milunsky A. Choices, not chances: an essential guide to your heredity and health. Boston, MA: Little, Brown, 1989.

338 338. Milunsky A. Heredity and your family's health. Baltimore, MD: Johns Hopkins University Press, 1992.

339 339. Milunsky A. Your genes, your health: a critical family guide that could save your life. Oxford: Oxford University Press, 2012.

340 340. Mersch J, Brown N, Pirzadeh‐Miller S, et al. Prevalence of variant reclassification following hereditary cancer genetic testing. JAMA 2018; 320(12):1266.

341 341. Cantebury v. Spence, 464 F.2d 772 (D.C. Cir. 1972).

342 342. Carrieri D, Dheensa S, Doheny S, et al. Recontacting in clinical practice: the views and expectations of patients in the United Kingdom. Eur J Hum Genet 2017; 25:1106.

343 343. Laurie G. Privacy and the right not to know: a plea for conceptual clarity. In: Ruth C, Mairi L, Darren S, eds. The right to know and the right not to know: genetic privacy and responsibility. Cambridge: Cambridge University Press, 2014: 38.

344 344. Committee of the International Huntington Association and the World Federation of Neurology. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994; 31:555.

345 345. Hunter AGW, Sharpe NF, Mullen M, et al. Ethical, legal, and practical concerns about recontacting patients to inform them of new information. In: Sharpe NF, Carter RF, eds. Genetic testing. care, consent and liability. New York: John Wiley & Sons, 2006.

346 346. Sirchia F, Carrieri D, Dheensa S, et al. Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. Eur J Hum Genet 2018; 26:946.

347 347. Bombard Y, Mighton C. Recontacting clinical genetics patients with reclassified results: equity and policy challenges. Eur J Hum Genet 2019; 27:505.

348 348. Mink v. University of Chicago, 460F. Supp. 713 (N.D.Ill.1978).

349 349. Tresemer v. Barke, 86 Cal. App.3d 656, 150 Cal. Rptr 384 (1978).

350 350. Pelias MZ. Duty to disclose in medical genetics: a legal perspective. Am J Med Genet 1991; 39:347.

351 351. Hirschhorn K, Fleischer LD, Godmilow L, et al. Duty to re‐contact. Genet Med 1999; 1:171.

352 352. Shirts BH, Parker LS. Changing interpretations, stable genes: responsibilities of patients, professionals, and policy makers in the clinical interpretation of complex genetic information. Genet Med 2008; 10:778.

353 353. David KL, Best RG, Brenman LM, et al. Patient re‐contact after revision of genomic test results: points to consider – a statement of the American College of Medical Genetics and Genomic (ACMG). Genet Med 2019; 21:769.

354 354. Nance MA. Genetic counseling and testing for Huntington's disease: a historical review. Am J Med Genet B Neuropsychiatr Genet 2017; 174:75.

355 355. Borle K, Morris E, Inglis A, et al. Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes. Clin Genet 2018; 94:239.

356 356. Stuttgen K, Dvoskin R, Bollinger J, et al. Risk perception before and after presymptomatic genetic testing for Huntington's disease: not always what one might expect. Mol Genet Genomic Med 2018; 6:1140.

357 357. Ibisler A, Ocklenburg S, Stemmler S, et al. Prospective evaluation of predictive DNA testing for Huntington's disease in a large German center. J Genet Couns 2017; 26:1029.

358 358. Smit AK, Newson AJ, Best M, et al. Distress, uncertainty, and positive experiences associated with receiving information on personal genomic risk of melanoma. Eur J Hum Genet 2018; 26:1094.

359 359. McGarry A, McDermott MP, Kieburtz K, et al. Risk factors for suicidality in Huntington disease. Neurology 2019; 92:e1643.

360 360. Anderson KE, Eberly S, Marder KS, et al. The choice not to undergo genetic testing for Huntington disease: results from the PHAROS study. Clin Genet 2019; 96:28.

361 361. Tassicker RJ, Teltscher B, Trembath MK, et al. Problems assessing uptake of Huntington's disease predictive testing and a proposed solution. Eur J Hum Genet 2009; 17(1):66.

362 362. Morrision PJ, Harding‐Lester S, Bradley A. Uptake of Huntington disease predictive testing in a complete population. Clin Genet 2011; 80(3):281.

363 363. Baig SS, Strong M, Quarrell OWJ. The global prevalence of Huntingtons disease: a systematic review and discussion. Neurodegener Dis Manag 2016; 6(4):331.

364 364. Baig SS, Strong M, Rosser E, et al. 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. Eur J Hum Genet 2017; 25(11):1290.

365 365. Mendes Á, Paneque M, Clarke A, et al. Choosing not to know: accounts of non‐engagement with pre‐symptomatic testing for Machado‐Joseph disease. Eur J Hum Genet 2019; 27:353.

366 366. Cowley L. What can we learn from patients' ethical thinking about the right ‘not to know’ in genomics? Lessons from cancer genetic testing for genetic counselling. Bioethics 2016; 30:628.

367 367. Stark Z, Wallace J, Gillam L, et al. Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed? J Med Ethics 2016; 42:640.

368 368. Milunsky JM, Maher TA, Loose BA, et al. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease. Clin Genet 2003; 64:70.

369 369. MacLeod RTA, Frontali M, Evers‐Kiebooms G, et al. Recommendations for the predictive genetic test in Huntington's disease. Clin Genet 2013; 23:221.

370 370. Tassicker R, Savulescu J, Skene L, et al. Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal and ethical viewpoints. BMJ 2003; 326:331.

371 371. Van Rij MC, De Rademaeker M, Moutou C, et al. Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet 2012; 20:368.

372 372. Bouchghoul H, Clément SF, Vauthier D, et al. Prenatal testing in Huntington disease: after the test, choices recommence. Eur J Hum Genet 2016; 24:1535.

373 373. Duncan RE, Foddy B, Delatycki MB. Refusing to provide a prenatal test: can it ever be ethical? BMJ 2006; 333:1066.

374 374. Wadrup F, Holden S, MacLeod R, et al. A case‐note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice. Eur J Hum Genet 2019; 27:1215.

375 375. Jones EF, Forrest JD, Henshaw SK, et al. Unintended pregnancy, contraceptive practice and family planning services in developed countries. Fam Plann Perspect 1988; 20:53.

376 376. Tarasoff v. Regents of the University of California, 551 P.2d 334 (Cal. 1976).

377 377. Stol YH, Menko FH, Westerman MJ, et al. Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists. J Med Ethics 2010; 36:391.

378 378. Menko FH, Aalfs CM, Henneman L, et al. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Fam Cancer 2013; 12:319.

379 379. Lacroix M, Nycum G, Godard B, et al. Should physicians warn patients' relatives of genetic risk? Can Med Assoc J 2008; 178:593.

380 380. Tan HL, Hofman N, van Langen IM, et al. Sudden unexplained death. Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005; 112:207.

381 381. Offit K, Groeger E, Turner S, et al. The “duty to warn” a patient's family members about hereditary disease risks. JAMA 2004; 292:1469.

382 382. Marta MR. Genetic testing: do healthcare professionals have a duty to tell a patient's family members that they may be at risk. J Healthc Risk Manag 1999; 19:26.

383 383. Elger BS, Michaud K, Fellmann F, et al. Sudden death: ethical and legal problems of post‐mortem forensic genetic testing for hereditary cardiac diseases. Clin Genet 2010; 77:287.

384 384. Pate v. Threlkel, 661 So. 2d 278, 282 (Fla. 1995).

385 385. Safer v. Estate of Pack, 677 A.2d 1188, 1192‐1193. (N.J. Super. Ct. App. Div.), cert. denied, 683 A.2d 1163 (N.J. 1996).

386 386. Rothstein MA. Reconsidering the duty to warn genetically at‐risk relatives. Genet Med 2018; 20:285.

387 387. N.J. State. Ann § 10:5‐47 (2001).

388 388. Wolf SM, Crock BN, Van Ness B, et al. Managing incidental findings and research reslts in genomic research involving biobanks and archived data sets. Genet Med 2012; 14:361.

389 389. Molloy v. Meier, 679 N.W.2d 711 (Minn. 2004).

390 390. ABC V. St. George's Healthcare NHS Trust [2015] EWHC 1394

391 391. ABC V. St. George's Healthcare NHS Trust [2015] EWCA 336. (QB).

392 392. Lucassen A, Gilbar R. Disclosure of genetic information to relatives: Balancing confidentiality and relatives' interests. J Med Genet 2018; 55:285.

393 393. Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics. Contest and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information. Report of the Joint Committee on Medical Genetics, 2nd edn. London: Royal College of Physicians/Royal College of Pathologists, 2011.

394 394. General Medical Council. Confidentiality: good practice in handling patient information. London: General Medical Council, 2017, revised in May 2018.

395 395. Middleton A, Milne R, Robarts L, et al. Should doctors have a legal duty to warn relatives of their genetic risks? Lancet 2019; 394:2133.

396 396. Wouters RHP, Bijlsma RM, Ausems MGEM, et al. Am I my family's keeper? Disclosure dilemmas in next‐generation sequencing. Hum Mutat 2016; 37:1257.

397 397. Gilbar R, Foster C. Doctors' liability to the patient's relatives in genetic medicine: ABC v. St. George's Healthcare NHS trust [2015] EWHC 1394 (QB). Med Law Rev 2016; 24:112.

398 398. Suter S. Legal challenges in genetics, including duty to warn and genetic discrimination. Cold Spring Harb Perspect Med 2020; 10:a036665.

399 399. Meggiolaro N, Barlow‐Stewart K, Dunlop K, et al. Disclosure to genetic relatives without consent – Australian genetic professionals' awareness of the health privacy law. BMC Med Ethics 2020; 21:13.

400 400. Perry TJ, Patton SI, Farmer MB, et al. The duty to warn at‐risk relatives‐ The experience of genetic counselors and medical geneticists. Am J Med Genet A 2020; 182:314.

401 401. Heyes T, Long S, Mathers N. Preconception care: practice and beliefs of primary care workers. Fam Pract 2004; 21:22.

402 402. Czeizel AE, Gasztonyi Z, Kuliev A. Periconceptional clinics: a medical health care infrastructure of new genetics. Fetal Diagn Ther 2005; 20:515.

403 403. Solomon BD, Jack BW, Feero WG. The clinical content of preconception care: genetics and genomics. Am J Obstet Gynecol 2008; 199(6 Suppl 2):S340.

404 404. Enzensberger C, Pulvermacher C, Degenhardt J, et al. Fetal loss rate and associated risk factors after amniocentesis, chorionic villus sampling and fetal blood sampling. Ultraschall Med 2012; 33:e75.

405 405. Akolekar R, Beta J, Picciarelli, et al. Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis. Ultrasound Obstet Gynecol 2015; 45(1):16.

406 406. Hollier LM, Leveno KJ, Kelly MA, et al. Maternal age and malformations in singleton births. Obstet Gynecol 2000; 96:701.

407 407. Frederiksen LE, Ernst A, Brix N, et al. Risk of adverse pregnancy outcomes at advanced maternal age. Obstet Gynecol 2018; 131:457.

408 408. Yatsenko AN, Turek PJ. Reproductive genetics and the aging male. J Assist Reprod Genet 2018; 35:933.

409 409. Brandt JS, Cruz Ithier MA, Rosen T, et al. Advanced paternal age, infertility, and reproductive risks: a review of the literature. Prenat Diagn 2019; 39:81.

410 410. Bray I, Gunnell D, Davey Smith G. Advanced paternal age: how old is too old?. J Epidemiol Community Health 2006; 60;851.

411 411. Martin JA, Hamilton BE, Osterman MJ, et al. Births: final data for 2015. Natl Vital Stat Rep 2017; 66:1.

412 412. Ford WC, North K, Taylor H, et al. Increasing paternal age is associated with delayed conception in a large population of fertile couples: evidence for declining fecundity in older men. The ALSPAC study team (Avon longitudinal study of pregnancy and childhood). Hum Reprod 2000; 15(8):1703.

413 413. Hassan MA, Killick SR. Effect of male age on fertility: evidence for the decline in male fertility with increasing age. Fertil Steril 2003; 79(Suppl 3):1520.

414 414. Belloc S, Cohen‐Bacrie P, Benkhalifa M, et al. Effect of maternal and paternal age on pregnancy and miscarriage rates after intrauterine insemination. Reprod Biomed Online 2008; 17(3):392.

415 415. Slama R, Bouyer J, Windham G, et al. Influence of paternal age on the risk of spontaneous abortion. Am J Epidemiol 2005; 161(9):816.

416 416. Orioli IM, Castilla EE, Scarano G, et al. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet 1995; 59(2):209.

417 417. Risch N, Reich EW, Wishnick MM, et al. Spontaneous mutation and parental age in humans. Am J Hum Genet 1987; 41(2):218.

418 418. Crow JF. The high spontaneous mutation rate: is it a health risk? Proc Natl Acad Sci U S A 1997; 94(16):8380.

419 419. Glaser RL, Jabs EW. Dear old dad. Sci Aging Knowledge Environ 2004;3:re1.

420 420. Friedman JM. Genetic disease in the offspring of older fathers. Obstet Gynecol 1981; 57(6):745.

421 421. Taylor JL, Debost JPG, Morton SU, et al. Parental‐age‐related de novo mutations and risk for five disorders. Nat Commun 2019; 10:3043.

422 422. Toriello HV, Meck JM. Statement on guidance for genetic counseling in advanced paternal age. Genet Med 2008; 10(6):457.

423 423. Practice Committee of American Society for Reproductive Medicine;Practice Committee of Society for Assisted Reproductive Technology. Recommendations for gamete and embryo donation: a committee opinion. Fertil Steril 2013; 99(1):47.

424 424. Malaspina D, Harlap S, Fennig S, et al. Advancing paternal age and the risk of schizophrenia. Arch Gen Psychiatry 2001; 58(4):361.

425 425. D'Onofrio BM, Rickert ME, Frans E, et al. Paternal age at childbearing and offspring psychiatric and academic morbidity. JAMA Psychiatry 2014; 71(4):432.

426 426. Nybo Andersen AM, Hansen KD, Andersen PK, Davey SG. Advanced paternal age and risk of fetal death: a cohort study. Am J Epidemiol 2004; 160(12):1214.

427 427. Steiner B, Masood R, Rufibach K, et al. An unexpected finding: younger fathers have a higher risk of offspring with chromosomal aneuploidies. Eur J Hum Genet 2015; 23(4):466.

428 428. Jennings MO, Owen RC, Keefe D, et al. Management and counseling of the male with advanced paternal age. Fertil Steril 2017; 107:324.

429 429. Cnossen MH, Smit FJ, deGoede‐Bolder A, et al. Diagnostic delay in neurofibromatosis type 1. Eur J Pediatr 1997; 156:482.

430 430. Bruechle NO, Steuernagel P, Zerres K, et al. Uniparental disomy as unexpected cause of Meckel‐Gruber syndrome: report of a case. Pediatr Nephrol 2017; 32:1989.

431 431. Nakka P, Smith SP, O'Donnell‐Luria AH, et al. Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population. Am J Hum Genet 2019; 105:921.

432 432. Matsubara K, Murakami N, Nagai T, et al. Maternal age effect on the development of Prader‐Willi syndrome resulting from upd(15)mat through meiosis I errors. J Hum Genet 2011; 56:566.

433 433. Hoffmann K, Heller R. Uniparental disomies 7 and 14. Best Pract Res Clin Endocrinol Metab 2011; 25:77.

434 434. Cho SY, Ki CS, Sohn YB, et al. The proportion of uniparental disomy is increased in Prader‐Willi syndrome due to an advanced maternal childbearing age in Korea. J Hum Genet 2013; 58:150.

435 435. Milunsky JM, Maher T, Lebo R, et al. Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins. Fetal Diagn Ther 1998; 13:167.

436 436. Milunsky A, Ito M, Maher TA, et al. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol 2009; 200(3):321.

437 437. Piña‐Aguilar RE, Simpson SA, Alshatti A, et al. 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genet Med 2019; 21:1639.

438 438. Robberecht W, Philips T. The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci 2013; 14:248.

439 439. Milunsky A, Konialis C, Shim SH, et al. The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis. Prenat Diagn 2005; 25:1057.

440 440. Konialis C, Hagnefelt B, Kokkali G, et al. Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Prenat Diagn 2007; 27:1079.

441 441. Middleton A, Hewison J, Mueller R. Prenatal diagnosis for inherited deafness: what is the potential demand? J Genet Couns 2001; 10:121.

442 442. Milunsky A, Alpert E, Kitzmiller JL, et al. Prenatal diagnosis of neural tube defects. VIII. The importance of serum α‐fetoprotein screening in diabetic pregnant women. Am J Obstet Gynecol 1982; 142:1030.

443 443. Miller E, Hare JW, Cloherty JP, et al. Elevated maternal HbA1c in early pregnancy and major congenital anomalies in infants of diabetic mothers. N Engl J Med 1981; 304:1331.

444 444. McElvy SS, Miodovnik M, Rosenn B, et al. A focused preconceptional and early pregnancy program in women with type 1 diabetes reduces perinatal mortality and malformation rates to general population levels. J Matern Fetal Med 2000; 9:14.

445 445. Penney GC, Mair G, Pearson DW, et al. Outcomes of pregnancies in women with type 1 diabetes in Scotland: a national population‐based study. Br J Obstet Gynaecol 2003; 110:315.

446 446. Stormdal Bring H, Hultén Varli IA, Kublickas M, et al. Causes of stillbirth at different gestational ages in singleton pregnancies. Acta Obstet Gynecol Scand 2014; 93:86.

447 447. Kropff J, Selwood MP, McCarthy MI, et al. Prevalence of monogenic diabetes in young adults: a community‐based, cross‐sectional study in Oxfordshire, UK. Diabetologia 2011; 54:1261.

448 448. Pihoker C, Gilliam LK, Ellard S, et al. Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab 2013; 98:4055.

449 449. Kleinberger JW, Maloney KA, Pollin TI. The genetic architecture of diabetes in pregnancy: implications for clinical practice. Am J Perinatol 2016; 33:1319.

450 450. Stein SA, Maloney KL, Pollin TI. Genetic counseling for diabetes mellitus. Curr Genet Med Rep 2014; 2:56.

451 451. Dickens LT, Naylor RN. Clinical management of women with monogenic diabetes during pregnancy. Curr Diab Rep 2018; 188:12.

452 452. Shields BM, Hicks S, Shepherd MH, et al. Maturity‐onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010; 53(12):2504.

453 453. Colstrup M, Mathiesen ER, Damm P, et al. Pregnancy in women with type 1 diabetes: have the goals of St. Vincent declaration been met concerning foetal and neonatal complications? J Matern Fetal Neonatal Med 2013; 26:1682.

454 454. Schaefer‐Graf U, Napoli A, Nolan CJ. Diabetes in pregnancy: a new decade of challenges ahead. Diabetologia 2018; 61:1012.

455 455. Parimi M, Nitsch D. A systemic review and meta‐analysis of diabetes during pregnancy and congenital genitourinary abnormalities. Kidney Int Rep 2020; 5:678.

456 456. Mackin ST, Nelson SM, Kerssens JJ, et al. Diabetes and pregnancy: national trends over 15 year period. Diabetologia 2018; 61:1081.

457 457. Helle E, Priest JR. Maternal obesity and diabetes mellitus as risk factors for congenital heart disease in the offspring. J Am Heart Assoc 2020; 9:e011541.

458 458. Stogianni A, Lendahls L, Landin‐Olsson M, et al. Obstetric and perinatal outcomes in pregnancies complicated by diabetes, and control pregnancies, in Kronoberg, Sweden. BMC Pregnancy Childbirth 2019; 19:159.

459 459. Fava A, Petri M. Systemic lupus erythematosus: diagnosis and clinical management. J Autoimmun 2019; 96:1.

460 460. Limaye MA, Buyon JP, Cuneo BF, et al. A review of fetal and neonatal consequences of maternal systemic lupus erythematosus. Prenat Diagn 2020; 40:1066.

461 461. Popescu MR, Dudu A, Jurcut C, et al. A broader perspective on Anti‐Ro antibodies and their fetal consequences – a case report and literature review. Diagnostics (Basel) 2020; 10:478.

462 462. Arbuckle MR, McClain MT, Rubertone MV, et al. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. N Engl J Med 2003; 349:1526.

463 463. Satoh M, Chan EK, Ho LA, et al. Prevalence and sociodemographic correlates of antinuclear antibodies in the United States. Arthritis Rheum 2012; 64:2319.

464 464. Wainwright B, Bhan R, Trad C, et al. Autoimmune‐mediated congenital heart block. Best Pract Res Clin Obstet Gynaecol 2020; 64:41.

465 465. Panaitescu AM, Nicolaides K. Maternal autoimmune disorders and fetal defects. J Matern Fetal Neonatal Med 2018; 31:1798.

466 466. Brito‐Zerón P, Izmirly PM, Ramos‐Casals M, et al. The clinical spectrum of autoimmune congenital heart block. Nat Rev Rheumatol 2015; 11:301.

467 467. Clowse ME, Eudy AM, Kiernan E, et al. The prevention, screening and treatment of congenital heart block from neonatal lupus:a survey of provider practices. Rheumatology 2018; 57(Suppl S5):v9.

468 468. Rein AJJT, Mevorach D, Perles Z, et al. Early diagnosis and treatment of atrioventricular block in the fetus exposed to maternal anti‐SSA/Ro‐SSB/La antibodies a prospective, observational, fetal kinetocardiogram‐based study. Circulation 2009; 119:1867.

469 469. Kusumoto FM, Schoenfeld MH, Barrett C, et al. 2018 ACC/AHA/HRS Guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol 2019; 74:932.

470 470. Stanner C, Horndasch M, Vitanova K, et al. Neonates and infants requiring life‐long cardiac pacing: How reliable are epicardial leads through childhood? Int J Cardiol 2019; 297:43.

471 471. Izmirly PM, Costedoat‐Chalumeau N, Pisoni CN, et al. Maternal use of hydroxychloroquine is associated with a reduced risk of recurrent anti‐SSA/ro‐antibody – Associated cardiac manifestations of neonatal lupus. Circulation 2012; 126:76.

472 472. Hansahiranwadee W. Diagnosis and management of fetal autoimmune atrioventricular block. Int J Womens Health 2020; 12:633.

473 473. Pruetz JD, Miller JC, Loeb GE, et al. Prenatal diagnosis and management of congenital complete heart block. Birth Defects Res 2019; 111:380.

474 474. Thomas NS, Durkie M, Van Zyl B, et al. Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum Genet 2006; 119(4):444.

475 475. Thomas NS, Morris JK, Baptista J, et al. De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age. J Med Genet 2010; 47(2):112.

476 476. Teras LR, Gaudet MM, Blase JL, Gapstur SM. Parental Age at birth and risk of hematological malignancies in older adults. Am J Epidemiol 2015; 182(1):41.

477 477. Green RF, Devine O, Crider KS, et al. Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004. Ann Epidemiol 2010; 20(3):241.

478 478. World Health Organization. Towards more objectivity in diagnosis and management of male infertility. Int J Androl 1987; 7:1.

479 479. Levy B, Sigurjonsson S, Pettersen B, et al. Genomic imbalance in products of conception: single‐nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol 2014; 124(2 Pt 1):202.

480 480. Abur U, Gunes S, Asci R, et al. Chromosomal and Y‐chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions. Andrologia 2019; 51(11):e.13402.

481 481. Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular bases of inherited disease, vol. II, 7th edn. New York: McGraw‐Hill, 1995:B3008.

482 482. Turnpenny PD, Gunasegaran R, Smith NC, et al. Recurrent miscarriage, cystic hygroma and incontinentia pigmenti. Br J Obstet Gynaecol 1992; 99:920.

483 483. Poursadegh Zonouzi A, Chaparzadeh N, Ghorbian S, et al. The association between thrombophilic gene mutations and recurrent pregnancy loss. J Assist Reprod Genet 2013; 30:1353.

484 484. Bouvier S, Cochery‐Nouvellon E, Lavigne‐Lissalde G, et al. Comparative incidence of pregnancy outcomes in thrombophilia‐positive women from the NOH‐APS observational study. Blood 2014; 123:414.

485 485. Bolor H, Mori T, Nishiyama S, et al. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am J Hum Genet 2009; 84:14.

486 486. Tucker EJ, Grover SR, Bachelot A, et al. Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum. Endocr Rev 2016; 37(6):609.

487 487. Maddirevula S, Awartani K, Coskun S, et al. A genomics approach to females with infertility and recurrent pregnancy loss. Hum Genet 2020; 139:605.

488 488. Patel B, Parets S, Akana M, et al. Comprehensive genetic testing for female and male infertility using next level generation sequencing. J Assist Reprod Genet 2018; 35(8):1489.

489 489. AlAsiri S, Basit S, Wood‐Trageser MA, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest 2015; 125(1):258.

490 490. Wood‐Trageser MA, Gurbuz F, Yatsenko SA, et al. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. Am J Hum Genet 2014; 95(6):754.

491 491. Kasippillai T, MacArthur DG, Kirby A, et al. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. J Clin Endocrinol Metab 2013; 98(9):E1534.

492 492. de Vries L, Behar DM, Smirin‐Yosef P, et al. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab 2014; 99(10):E2129.

493 493. Anguiano A, Oates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 1992; 267:1794.

494 494. Bieth E, Hamdi SM, Mieusset R. Genetics of the congenital absence of the vas deferens. Hum Genet 2020 Feb 5. DOI: 10.1007/s00439‐020‐02122‐w. Online ahead of print.

495 495. Yu J, Chen Z, Ni Y, et al. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta‐analysis. Hum Reprod 2012; 27:25.

496 496. Taulan M, Girardet A, Guittard C, et al. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007; 8:22.

497 497. Traystman MD, Schulte NA, MacDonald M, et al. Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen Bank. Hum Mutat 1994; 4:271.

498 498. Patat O, Pagin A, Siegfried A, et al. Truncating mutations in the adhesion G protein‐coupled receptor G2 gene ADGRG2 cause an X‐Linked congenital bilateral absence of vas deferens. Am J Hum Genet 2016; 99:437.

499 499. Wu H, Gao Y, Ma C, et al. A novel hemizygous loss‐of‐function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens. J Assist Reprod Genet 2020; 37(6):1421.

500 500. Augarten A, Yahav Y, Kerem BS, et al. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 1994; 344:1473.

501 501. Schwarzer JU, Schwarz M. Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia. Andrologia 2012; 44:305.

502 502. Temple‐Smith PD, Southwick GJ, Yates CA, et al. Human pregnancy by IVF using sperm aspirated from the epididymis. J In Vitro Fertil Embryo Transfer 1985; 2:119.

503 503. Silber SJ, Ord T, Balmaceda J, et al. Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm. N Engl J Med 1990; 7:147.

504 504. Flannigan R, Schlegel PN. Genetic diagnosis of male infertility in clinical practice. Best Pract Res Clin Obstet Gynaecol 2017; 44:26.

505 505. Milunsky A, Milunsky JM, Dong W, et al. A contiguous microdeletion syndrome at Xp23.13 with non‐obstructive azoospermia and congenital cataracts. J Assist Reprod Genet 2020; 37:471.

506 506. Colaco S, Modi D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol 2018; 16:14

507 507. Najmabadi H, Huang V, Yen P, et al. Substantial prevalence of microdeletions of the Y chromosome in infertile men with idiopathic azoospermia and oligospermia detected using a sequence‐tagged site‐based mapping strategy. J Clin Endocrinol Metab 1996; 71:1347.

508 508. Ma K, Inglis JD, Sharkey A, et al. A Y chromosome gene family with RNA‐binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 73:1287.

509 509. Reijo R, Alagappan RK, Patrizio P, et al. Severe oligo‐zoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996; 347:1290.

510 510. de Kretser DM. Male infertility. Lancet 1997; 349:787.

511 511. Bonduelle M, Hamberger L, Joris H, et al. Assisted reproduction by intracytoplasmic sperm injection: an ESHRE survey of clinical experiences until December 1993. Hum Reprod Update 1995; 1:3.

512 512. Meschede D, Horst J. Sex chromosomal anomalies in pregnancies conceived through intracytoplasmic sperm injection: a case for genetic counseling. Hum Reprod 1997; 12:1125.

513 513. Chandley AC. Meiotic studies and fertility in human translocation carriers. In: Daniel A, ed. The cytogenetics of mammalian autosomal rearrangements. New York: Alan R. Liss, 1988:370.

514 514. Dohle GR, Halley DJ, van Hemel JO, et al. Genetic risk factors in infertile men with severe oligo‐zoospermia and azoospermia. Hum Reprod 2002; 17:13.

515 515. Özdemir TR, Özyilmaz B, Çakmak Ö, et al. Evaluation of chromosomal abnormalities and Y‐chromosome microdeletions in 1696 Turkish cases with primary male infertility: a single‐center study. Turk J Urol 2020; 46:95.

516 516. Bunyan DJ, Thomas NS. Screening of a large cohort of blepharophimosis, ptosis, epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations. Eur J Med Genet 2019: 62.

517 517. Stentz NC, Koelper N, Barnhart KT, et al. Infertility and mortality. Am J Obstet Gynecol 2020; 222:251e.1.

518 518. Hargreave M, Jensen A, Hansen MK, et al. Association between fertility treatment and cancer risk in children. JAMA 2019; 322:2203.

519 519. Spector LG, Brown MB, Wantman E, et al. Association of in vitro fertilization without childhood cancer in the United States. JAMA Pediatr 2019; 0392(6):e1903392.

520 520. Murugappan G, Li S, Lathi RB, et al. Increased risk of severe maternal morbidity among infertile women: analysis of US claims data. Am J Obstet Gynecol 2020; 223(3):404.e1.

521 521. Committee on Genetics. Committee opinion no. 691: carrier screening for genetic conditions. Obstet Gynecol 2017; 129:e41.

522 522. Lim KRQ, Sheri N, Nguyen Q, et al. Cardiac involvement in dystrophin‐deficient females: current understanding and implications for the treatment of dystrophinopathies. Genes 2020; 11(7):765.

523 523. Ishizaki M, Kobayashi M, Adachi K, et al. Female dystrophinopathy: review of current literature. Neuromuscul Disord 2018; 28:572.

524 524. Hoogerwaard EM, Van Der Wouw PA, Wilde AAM, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999; 9:347.

525 525. Viggiano E, Ergoli M, Picillo E, et al. Determining the role of skewed X‐chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. Hum Genet 2016; 135:685.

526 526. Finsterer J, Stollberger C. Muscle, cardiac, and cerebral manifestations in female carriers of dystrophin variants. J Neurol Sci 2018; 388:107.

527 527. Tunteeratum A, Witoonpanich R, Phudhichareonrat S, et al. Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene. J Clin Neuromuscul Dis 2009; 11:49.

528 528. Martinez HR, Pignatelli R, Belmont JW, et al. Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. Am J Med Genet Part A 2011; 155:3025.

529 529. Eekhoff L, Edwards J, Martin A, et al. Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy. J Genet Couns 2019; 28:993.

530 530. Papa R, Madia F, Bartolomeo D, et al. Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy. Pediatr Neurol 2016; 55:58.

531 531. Mah ML, Cripe L, Slawinski MK, et al. Duchenne and Becker muscular dystrophy carriers: evidence of cardiomyopathy by exercise and cardiac MRI testing. Int J Cardiol 2020; 316:257.

532 532. Papa AA, D'Ambrosio P, Petillo R, et al. Heart transplantation in patients with dystrophinopathic cardiomyopathy: review of the literature and personal series. Intractable Rare Dis Res 2017; 6:95.

533 533. Allen EG, Charen K, Hipp HS, et al. Clustering of comorbid conditions among women who carry an FMR1 premutation. Genet Med 2020; 22:758.

534 534. Allen EG, Sullivan AK, Marcus M, et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 2007; 22:2142.

535 535. Plug I, Mauser‐Bunschoten EP, Bröcker‐Vriends AHJT, et al. Bleeding in carriers of hemophilia. Blood 2006; 108:52.

536 536. Konkle BA, Huston H, Fletcher SN. Hemophilia A. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, 2000 Sep 21 [updated 2017 Jun 22].

537 537. Konkle BA, Huston H, Fletcher SN. Hemophilia B. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, 2000 Oct 2 [updated 2017 Jun 15].

538 538. Balak DM, Gouw SC, Plug I, et al. Prenatal diagnosis for haemophilia: a nationwide survey among female carriers in the Netherlands. Haemophilia 2012; 18:584.

539 539. Chuansumrit A, Sasanakul W, Promsonthi P, et al. Prenatal diagnosis for haemophilia: the Thai experience. Haemophilia 2016; 22:880.

540 540. Kessler L, Adams R, Mighion L, et al. Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory. Haemophilia 2014; 20:e384.

541 541. Chen M, Chang S‐P, Ma G‐C, et al. Preimplantation genetic diagnosis of hemophilia A. Thromb J 2016; 14(Suppl 1):33.

542 542. Hudecova I, Jiang P, Davies J, et al. Noninvasive detection of F8 int22h‐related inversions and sequence variants in maternal plasma of hemophilia carriers. Blood 2017; 130:340.

543 543. Antonarakis SE. Carrier screening for recessive disorders. Nat Rev Genet 2019; 20:549.

544 544. Hogan GJ, Vysotskaia VS, Beauchamp KA, et al. Validation of an expanded carrier screen optimizes sensitivity via full‐exon sequencing and panel‐wide copy number variant identification. Clin Chem 2018; 64:1063.

545 545. Hernandez‐Nieto C, Alkon‐Meadows T, Lee J, et al. Expanded carrier screening for preconception reproductive risk assessment: prevalence of carrier status in Mexican population. Prenat Diagn 2020; 40:635.

546 546. Kraft S, Duenas D, Wilfond B, et al. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet Med 2019; 21:790.

547 547. Franasiak J, Olcha M, Bergh P, et al. Expanded carrier screening in an infertile population: how often is clinical decision making affected? Genet Med 2016; 18:1097.

548 548. Punj S, Akkari Y, Huang J, et al. Preconception carrier screening by genome sequencing: results from the clinical laboratory. Am J Hum Genet 2018; 102:1078.

549 549. Peyser A, Singer T, Mullin C, et al. Comparing ethnicity‐based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates. Genet Med 2019; 21:1400.

550 550. Haque IS, Lazarin GA, Kang HP, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA 2016; 316:734.

551 551. Beauchamp K, Johansen Taber K, Muzzey D. Clinical impact and cost‐effectiveness of a 176‐condition expanded carrier screen. Genet Med 2019; 21:1948.

552 552. Johansen Taber K, Beauchamp K, Lazarin G, et al. Clinical utility of expanded carrier screening: results‐guided actionability and outcomes. Genet Med 2019; 21:1041.

553 553. Van der Hout S, Holtkamp K, Henneman L, et al. Advantages of expanded universal carrier screening: what is at stake? Eur J Hum Genet 2016; 25:17.

554 554. Hogan GJ, Vysotskaia VS, Beauchamp KA, et al. Validation of an expanded carrier screen that optimizes sensitivity via full‐exon sequencing and panel‐wide copy number variant identification. Clin Chem 2018; 64:1063.

555 555. King J, Klugman S. Ethnicity‐based carrier screening. Obstet Gynecol Clin North Am 2018; 45:83.

556 556. Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants. Genet Med 2013; 15:178.

557 557. Wilson RD, De Bie I, Armour CM, et al. Joint SOGC‐CCMG opinion for reproductive genetic carrier screening: an update for all Canadian providers of maternity and reproductive healthcare in the era of direct‐to‐consumer testing. J Obstet Gynaecol Can 2016; 38:742.e3.

558 558. American College of Obstetricians and Gynecologists. Committee opinion no. 690: carrier screening in the age of genomic medicine. Obstet Gynecol 2017; 129:e35.

559 559. Edwards JG, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine – points to consider. Obstet Gynecol 2015; 125:653.

560 560. Johansen Taber K, Beauchamp K, Lazarin G, et al. Clinical utility of expanded carrier screening: results‐guided actionability and outcomes. Genet Med 2019; 21:1041.

561 561. Rabin R, Hirsch Y, Johansson MM, et al. Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases. Am J Med Genet A 2019; 179:2144.

562 562. Akler G, Birch AH, Schreiber‐Agus N, et al. Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients. Mol Genet Genomic Med 2020; 8:e1053.

563 563. Guo MH, Gregg AR. Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels. Genet Med 2019; 21(9):1940.

564 564. Scott SA, Edelmann L, Liu L, et al. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 2010; 31:1240.

565 565. Kaseniit KE, Haque IS, Goldberg JD, et al. Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity‐based medical guidelines. Genet Med 2020; 22(10):1694.

566 566. Singer A, Sagi‐Dain L. Impact of a national genetic carrier‐screening program for reproductive purposes. Acta Obstet Gynecol Scand 2020; 99:802.

567 567. Shi L, Webb BD, Birch AH, et al. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants. Clin Genet 2017; 91:599.

568 568. Baskovich B, Hiraki S, Upadhyay K, et al. Expanded genetic screening panel for the Ashkenazi Jewish population. Genet Med 2016; 18:522.

569 569. Bristow SL, Morris JM, Peyser A, et al. Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre. Reprod Biomed Online 2019; 38:225.

570 570. Rosenblum LS, Zhu H, Zhou Z, et al. Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent. J Genet Couns 2020; 29:56.

571 571. Arjunan A, Litwack K, Collins N, et al. Carrier screening in the era of expanding genetic technology. Genet Med 2016; 18:1214.

572 572. Gregg AR, Edwards JG. Prenatal genetic carrier screening in the genomic age. Semin Perinatol 2018; 42:303.

573 573. Grzymski JJ, Elhanan G, Morales Rosado JA, et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med 2020; 26(8):1235.

574 574. Neben CL, Zimmer AD, Stedden W, et al. Multi‐gene panel testing of 23,179 individuals for hereditary cancer risk identifies pathogenic variant carriers missed by current genetic testing guidelines. J Mol Diagn 2019; 21:646.

575 575. Tandy‐Connor S, Guiltinan J, Krempely K, et al. False‐positive results released by direct‐to‐consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med 2018; 20:1515.

576 576. Petersen LM, Lefferts JA. Lessons learned from direct‐to‐consumer genetic testing. Clin Lab Med 2020; 40:83.

577 577. Laestadius LI, Rich JR, Auer PL. All of your data (effectively) belongs to us: data practices among direct‐to‐consumer genetic testing firms. Genet Med 2017; 19:513.

578 578. de Pauw A, Schwartz M, Colas C, et al. Direct‐to‐consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies. Eur J Cancer 2020; 132:100.

579 579. Horton R, Crawford G, Freeman L, et al. Direct‐to‐consumer genetic testing. BMJ 2019; 367:I5688.

580 580. Millward M, Tiller J, Bogwitz M, et al. Impact of direct‐to‐consumer genetic testing on Australian clinical genetic services. Eur J Med Genet 2020; 63:103968.

581 581. Huml AM, Sullivan C, Figueroa M, et al. Consistency of direct‐to‐consumer genetic testing results among identical twins. Am J Med 2020; 133:143.e2.

582 582. Garmany R, Lee CJ, Sharp RR, et al. Failure to follow up on a medically actionable finding from direct to consumer genetic testing: a case report. Mol Genet Genomic Med 2020; 8:e.1252.

583 583. Niemiec E, Kalokairinou L, Howard HC. Current ethical and legal issues in health‐related direct‐to‐consumer genetic testing. Per Med 2017; 14:433.

584 584. Committee on Genetics. Committee opinion no. 724: consumer testing for disease risk. Obstet Gynecol 2017; 130:e270.

585 585. ACMG Board of Directors. Direct‐to‐consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genet Med 2016; 18:207.

586 586. Wilson RD, De Bie I, Armour CM, et al. Joint SOGC‐CCMG opinion for reproductive genetic carrier screening: an update for all Canadian providers of maternity and reproductive healthcare in the era of direct‐to‐consumer testing. J Obstet Gynaecol Can 2016; 38:742.e3.

587 587. Kalokairinou L, Howard HC, Slokenberga S, et al. Legislation of direct‐to‐consumer genetic testing in Europe: a fragmented regulatory landscape. J Community Genet 2018; 9:117.

588 588. de Paor A. Direct to consumer genetic testing‐law and policy concerns in Ireland. Ir J Med Sci 2018; 187:575.

589 589. Rafiq M, Ianuale C, Ricciardi W, et al. Direct‐to‐consumer genetic testing: a systematic review of European guidelines, recommendations, and position statements. Genet Test Mol Biomarkers 2015; 19:535.

590 590. Tatour Y, Tamaiev J, Shamaly S, et al. A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. Mol Vis 2019; 25:155.

591 591. Sparks TN. Expanded carrier screening: counseling and considerations. Hum Genet 2020; 139:1131.

592 592. Tayoun AA, Mason‐Suares H. Considerations for whole exome sequencing unique to prenatal care. Hum Genet 2020; 139:1149.

593 593. Simioni P, Prandoni P, Lensing AW, et al. The risk of recurrent venous thromboembolism in patients with an Arg5066Glnmutation in the gene for factor V (factor V Leiden). N Engl J Med 1997; 336:399.

594 594. Desch KC, Ozel AB, Halvorsen M, et al. Whole‐exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. Blood 2020; 136:533.

595 595. Veldhuisen B, Saris JJ, deHaij S, et al. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 1997; 61:547.

596 596. Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange–Nielsen cardioauditory syndrome. Nat Genet 1997; 15:186.

597 597. Wallace E, Howard L, Liu M, et al. Long QT syndrome: genetics and future perspective. Pediatr Cardiol 2019; 40:1419.

598 598. Rebours V, Boutron‐Ruault MC, Schnee M, et al. The natural history of hereditary pancreatitis: a national series. Gut 2009; 58:97.

599 599. Migeon BR. X‐linked diseases: susceptible females. Genet Med 2020; 22:1156.

600 600. Pinckers A. X‐linked progressive cone dystrophy. Doc Ophthalmol Proc Ser 1982; 33:399.

601 601. El‐Deiry SS, Naidu S, Blevins LS, et al. Assessment of adrenal function in women heterozygous for adrenoleukodystrophy. J Clin Endocrinol Metab 1997; 82:856.

602 602. Menage P, Carreau V, Tourbah A, et al. Les adrenoleucodystrophies heterozygotes symptomatiques de l'adulte: 10 cas. Rev Neurol 1993; 149:445.

603 603. Hasstedt SJ, Atkin CL, San Juan AC Jr. Genetic heterogeneity among kindreds with Alport syndrome. Am J Hum Genet 1986; 38:940.

604 604. Patel RR, Hovijitra S, Kafrawy AH, et al. X‐linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic and histopathologic report. J Prosthet Dent 1991; 66:398.

605 605. Hennekam RC, Barth PG, van Lookeren Campagne W, et al. A family with severe X‐linked arthrogryposis. Eur J Pediatr 1991; 150:656.

606 606. Gibbons RJ, Suthers GK, Wilkie AOM, et al. X‐linked alpha‐thalassemia/mental retardation (ATR‐X) syndrome: location to Xq12–q21.31 by X inactivation and linkage analysis. Am J Hum Genet 1992; 51:1136.

607 607. Mathews KD, Ardinger HH, Nishimura DY, et al. Linkage localization of Borjeson–Forssman–Lehmann syndrome. Am J Med Genet 1989; 34:470.

608 608. Karna J. Choroideremia: a clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol 1986; 176(Suppl):1.

609 609. Romera MG, Martin MM, Gonzalez E. Chronic granulomatous disease: a case study of a symptomatic carrier. J Invest Allerg Clin Immunol 1997; 7:57.

610 610. Lovas JG, Issekutz A, Walsh N, et al. Lupus erythematosus‐like oral mucosal and skin lesions in a carrier of chronic granulomatous disease. Chronic granulomatous disease carrier genodermatosis. Oral Surg Oral Med Oral Pathol Oral Rad Endod 1995; 80:78.

611 611. Marciano BE, Zerbe CS, Falcone EL, et al. X‐linked carriers of chronic granulomatous disease: illness, lyonization, and stability. J Allergy Clin Immunol 2018; 141:365.

612 612. Rollnick BR, Kaye CI. Mendelian inheritance of isolated nonsyndromic cleft palate. Am J Med Genet 1986; 24:465.

613 613. Cremers CWRJ, Huygen PLM. Clinical features of female heterozygotes in the X‐linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol 1983; 6:179.

614 614. Kamdar F, Garry DJ. Dystrophin‐deficient cardiomyopathy. J Am Coll Cardiol 2016; 67:2533.

615 615. Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996; 275:1335.

616 616. Matthews PM, Benjamin D, van Bakel I, et al. Muscle X‐inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995; 5:209.

617 617. Azofeifa J, Voit T, Hubner C, et al. X‐chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995; 96;167.

618 618. Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, September 5, 2000.

619 619. Schnur RE, Heymann WR. Reticulate hyperpigmentation. Semin Cutan Med Surg 1997; 16:72.

620 620. Emery AEH. Emery–Dreifuss syndrome. J Med Genet 1989; 26:637.

621 621. Viggiano E, Madej‐Pilarczyk A, Carboni N, et al. X‐linked Emery‐Dreifuss muscular dystrophy: study of X‐chromosome inactivation and its relation with clinical phenotypes in female carriers. Genes (Basel) 2019; 10:919.

622 622. Kong D, Zhan Y, Liu C, et al. A novel mutation of the EMD gene in a family with cardiac conduction abnormalities and a high incidence of sudden cardiac death. Pharmgenomics Pers Med 2019; 12:319.

623 623. Ropers HH, Wienker TF, Grimm T, et al. Evidence for preferential X‐chromosome inactivation in a family with Fabry disease. Am J Hum Genet 1977; 29:361.

624 624. Berger JR. Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease. Mult Scler Relat Disord 2019; 30:45.

625 625. Thompson EM, Baraitser M, Lindenbaum RH, et al. The FG syndrome: seven new cases. Clin Genet 1985; 27:582.

626 626. Vianna‐Morgante AM, Costa SS, Pares AS, et al. FRAXA premutation associated with premature ovarian failure. Am J Med Genet 1996; 64:373.

627 627. Sobesky WE, Taylor AK, Pennington BF, et al. Molecular/clinical correlations in females with fragile X. Am J Med Genet 1996; 64:340.

628 628. Franke P, Maier W, Hautzinger M, et al. Fragile‐X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 1996; 64:334.

629 629. Meloni T, Forteleoni G, Dore A, et al. Neonatal hyperbilirubinaemia in heterozygous glucose‐6‐phosphate dehydrogenase deficient females. Br J Haematol 1983; 53:241.

630 630. Mauser Bunchoten EP, van Houwelingen JC, Sjamsoedin Visser EJ, et al. Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost 1988; 59:349.

631 631. Vabres P, Larregu M. X‐linked genodermatoses. Ann Dermatol Venereol 1995; 122:154.

632 632. Rahbaran M, Doabsari MH, Salavitabar S, et al. A novel frameshift mutation in the EDA gene in an Iranian patient affected by X‐linked hypohidrotic ectodermal dysplasia. Call Mol Biol Lett 2019; 24:54.

633 633. Afzal S, Ramzan K, Ullah S, et al. A novel nonsense mutation in the STS gene in a Pakistani family with X‐linked recessive ichthyosis: including a very rare case of two homozygous female patients. BMC Med Genet 2020; 21:20.

634 634. Carmignac V, Nambot S, Lehalle D, et al. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Clin Genet 2020; 98:43.

635 635. Endres W. Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis 1997; 20:9.

636 636. Jung HH, Danek A, Walker RH, et al. McLeod neuroacanthocytosis syndrome. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993–2020, 2004 [updated 2019 May 23].

637 637. Lorette G, Toutain A, Barthes M, et al. Menkes syndrome: an unusual pigmentation anomaly in a mother and three sisters. Ann Pediatr 1992; 39:453.

638 638. Collie WR, Moore CM, Goka TJ, et al. Pili torti as marker for carriers of Menkes disease. Lancet 1978; 1:607.

639 639. Bartsocas CS, Kastrantas AD. X‐linked form of myopia. Hum Hered 1981; 31:199.

640 640. Nance WE, Warburg M, Bixler D, et al. Congenital X‐linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser 1974; 10:285.

641 641. Kellner U, Fuchs S, Bornfeld N, et al. Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene. Ophthalmol Genet 1996; 17:67.

642 642. Charles SJ, Moore AT, Zhang Y, et al. Carrier detection in X‐linked ocular albinism using linked DNA polymorphisms. Br J Ophthalmol 1994; 78:539.

643 643. Erpenstein H, Pfeiffer RA. Geschlechsgebunden‐dominant erbliche Zahnunterzahl. Humangenetik 1967; 4:280.

644 644. Meroni G. X‐linked Opitz G/BBB syndrome. GeneReviews® Seattle (WA): University of Washington, Seattle, 1993–2020, 2004 [updated 2018 Apr 5].

645 645. Herinklake S, Boker K, Manns M. Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient. Digestion 1977; 58:83.

646 646. Fries MH, Kuller JA, Jurecki E, et al. Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency in an adult heterozygous female patient. Digestion 1997; 58:83.

647 647. Etter JL, Moysich K, Kohli S, et al. Transmission of X‐linked ovarian cancer: characterization and implications. Diagnostics (Basel) 2020; 10:90.

648 648. Warshawsky I, Rudick RA, Staugaitis SM, et al. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. Ann Neurol 2005; 58:470.

649 649. Kaplan J, Pelet A, Hentari H, et al. Contribution to carrier detection and genetic counseling in X linked retinoschisis. J Med Genet 1991; 28:383.

650 650. Souied E, Segues B, Ghazi I, et al. Severe manifestations in carrier females in X linked retinitis pigmentosa. J Med Genet 1997; 34:793.

651 651. Kurata K, Hosono K, Hayashi T, et al. X‐linked retinitis pigmentosa in Japan: clinical and genetic findings in male patients and female carriers. Int J Mol Sci 2019; 20:1518.

652 652. Ramocki MB, Peters SU, Tavyev YJ, et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 2009; 66:771.

653 653. McKusick VA. Mendelian inheritance in man, 11th edn. Baltimore, MD: Johns Hopkins University Press, 1994: 2530.

654 654. Sajorda BJ, Gonzalez‐Gandolfi CX, Hathaway ER, et al. Simpson‐Golabi‐Behmel syndrome type 1. GeneReviews® Seattle (WA): University of Washington, Seattle, 1993–2020, 2006 [updated 2018 Nov 29].

655 655. Ishihara H, Kanda F, Nishio H, et al. Clinical features and skewed X‐chromosome inactivation in female carriers of X‐linked recessive spinal and bulbar muscular atrophy. J Neurol 2001; 248:856.

656 656. Ahmad M, Abbas H, Haque S, et al. X‐chromosomally inherited split‐hand/split foot anomaly in a Pakistani kindred. Hum Genet 1987; 75:169.

657 657. McKusick VA. Mendelian inheritance in man, 11th edn. Baltimore, MD: Johns Hopkins University Press, 1994: 2535.

658 658. van den Berghe H, Dequeker J, Fryns JP, et al. Familial occurrence of severe ulnar aplasia and lobster claw feet: a new syndrome. Hum Genet 1978; 42:109.

659 659. Wengler G, Gorlin JB, Williamson JM, et al. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott–Aldrich syndrome. Blood 1995; 85:2471.

660 660. Peacocke M, Siminovitch KA. The Wiskott–Aldrich syndrome. Semin Dermatol 1993; 12:247.

661 661. Ziats CA, Schwartz CE, Gecz J, et al. X‐linked intellectual disability: phenotypic expression in carrier females. Clin Genet 2019; 97:418.

662 662. Uliana V, Bonatti F, Zanatta V, et al. Spectrum of X‐linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene. J Genet 2019; 98:10.

663 663. Jackson MR, Loring KE, Homan CC, et al. Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. Life Sci Alliance 2019; 2:e.201900386.

664 664. Stoll C, Geraudel A, Chauvin A. New X‐linked syndrome of mental retardation, short stature and hypertelorism. Am J Med Genet 1991; 39:474.

665 665. Atkin JF, Flaitz K, Patil S, et al. A new X‐linked mental retardation syndrome. Am J Med Genet 1985; 21:697.

666 666. Barresi S, Tomaselli S, Athanasiadis A, et al. Oligophrenin‐1 (OPHN1), a gene involved in X‐linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development. PLoS One 2014; 9:e91351.

667 667. Al‐Owain M, Kaya N, Al‐Zaidan H, et al. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet 2011; 79:363.

668 668. Dowling JJ, Lawlor MW, Das S. X‐linked myotubular myopathy. GeneReviews® Seattle (WA): University of Washington, Seattle, 1993–2020, 2002 [updated 2018 Aug 23].

669 669. Brancaleoni V, Balwani M, Granata F, et al. X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria. Clin Genet 2016; 89:20.

670 670. Nowakowski R. Ocular manifestations in female carriers of X‐linked disorders. J Am Optom Assoc 1995; 66:352.

671 671. Mornet E, Chateau C, Taillandier A, et al. Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome. Hum Genet 1996; 97:512.

672 672. Bowling KM, Thompson ML, Amaral MD, et al. Genomic diagnosis for children with intellectual disability and/or developmental delay. Genome Med 2017; 9:43.

673 673. Sun Y, Ruivenkamp CAL, Hoffer MJV, et al. Next‐generation diagnostics: gene panel, exome, or whole genome? Hum Mutat 2015; 36:648.

674 674. Vissers LELM, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet 2016; 17:9.

675 675. Mir YR, Kuchay RAH. Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review. J Med Genet 2019; 56:567.

676 676. Linstrand A, Eisfeldt J, Pettersson M, et al. From cytogenetics to cytogenomics: whole‐genome sequencing as a first‐line test comprehensively captures the diverse spectrum of disease‐causing genetic variation underlying intellectual disability. Genome Med 2019; 11:68.

677 677. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first‐tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86(5):749.

678 678. Waggoner D, Wain KE, Dubuc AM, et al. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018; 20(10):1105.

679 679. Clark DW, Okada Y, Moore KHS, et al. Associations of autozygosity with a broad range of human phenotypes. Nat Commun 2019; 10:4957.

680 680. Abdulrazzaq YM, Bener A, Al‐Gazali LI, et al. A study of possible deleterious effects of consanguinity. Clin Genet 1997; 51:167.

681 681. Saadallah AA, Rashed MS. Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis 2007; 30:482.

682 682. Bundey S, Alam H, Kaur A, et al. Race, consanguinity and social features in Birmingham babies: a basis for prospective study. J Epidemiol Commun Health 1990; 44:130.

683 683. Khoury SA, Massad DF. Consanguinity, fertility, reproductive wastage, infant mortality and congenital malformations in Jordan. Saudi Med J 2000; 21:150.

684 684. Stoltenberg C, Magnus P, Lie RT, et al. Birth defects and parental consanguinity in Norway. AmJ Epidemiol 1997; 145:439.

685 685. Perveen F, Tyyab S. Frequency and pattern of distribution of congenital anomalies in the newborn and associated maternal risk factors. J Coll Physicians Surg Pak 2007; 17:340.

686 686. Monies D, Abouelhoda M, Assoum M, et al. Lessons learned from large‐scale, first‐tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet 2019; 104(6):1182.

687 687. Vora NL, Gilmore K, Brandt A, et al. An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. Genet Med 2020; 22(5):954.

688 688. Meier N, Bruder E, Lapaire O, et al. Exome sequencing of fetal anomaly syndromes: novel phenotype‐genotype discoveries. Eur J Hum Genet 2019; 27:730.

689 689. Malinowski J, Miller DT, Demmer L, et al. Systematic evidence‐based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilities. Genet Med 2020; 22(6):986.

690 690. Milunsky A. Heredity and your family's health. Baltimore, MD: Johns Hopkins University Press, 1992.

691 691. Greenbaum L, Pode‐Shakked B, Eisenberg‐Barzilai S, et al. Evaluation of diagnostic yield in fetal whole‐exome sequencing: a report on 45 consecutive families. Front Genet 2019; 10:425.

692 692. Goh YI, Chudley AE, Clarren SK, et al. Development of Canadian screening tools for fetal alcohol spectrum disorder. Can J Clin Pharmacol 2008; 15:e344.

693 693. Memo L, Gnoato E, Caminiti S, et al. Fetal alcohol spectrum disorders and fetal alcohol syndrome: the state of the art and new diagnostic tools. Early Hum Dev 2013; 89(Suppl 1):S40.

694 694. Chudley AE. Fetal alcohol spectrum disorder: counting the invisible – mission impossible? Arch Dis Child 2008; 93:721.

695 695. Clarren SK, Randels SP, Sanderson M, et al. Screening for fetal alcohol syndrome in primary schools: a feasibility study. Teratology 2001; 63:3.

696 696. Holmes LB. Human teratogens: update 2010. Birth Defects Red A Clin Mol Teratol 2011; 91:1.

697 697. Gheysen W, Kennedy D. An update on maternal medication‐related embryopathies. Prenat Diagn 2020; 40:1168.

698 698. Milunsky A, Ulcickas M, Rothman KJ, et al. Maternal heat exposure and neural tube defects. JAMA 1992; 268:882.

699 699. Saunders NR, Dziegielewska KM. Medications for pregnant women: A balancing act between the interests of the mother and of the fetus. Prenat Diagn 2020; 40:1156.

700 700. Martinez‐Frias ML, Bermejo E, Rodriguez‐Pinilla E, et al. Periconceptional exposure to contraceptive pills and risk for Down syndrome. J Perinatol 2001; 21:288.

701 701. Shub A, Lappas M. Pregestational diabetes in pregnancy: complications, management, surveillance, and mechanisms of disease – a review. Prenat Diagn 2020; 40:1092.

702 702. Murray SR, Reynolds RM. Short‐ and long‐term outcomes of gestational diabetes and its treatment on fetal development. Prenat Diagn 2020; 40:1085.

703 703. Evans MI, Andriole S, Curtis J, et al. The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening. Prenat Diagn 2018; 38(10):730.

704 704. Vora NL, Powell B, Brandt A, et al. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. Genet Med 2017; 19:1207.

705 705. Jelin AC, Vora N. Whole exome sequencing: applications in prenatal genetics. Obstet Gynecol Clin North Am 2018; 45:69.

706 706. Best S, Wou K, Vora N, et al. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn 2018; 38:10.

707 707. Normand EA, Braxton A, Nassef S, et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and suspected Mendelian disorder 2018; 10:74.

708 708. Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019; 393:747.

709 709. Horn R, Parker M. Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn 2018; 38:20.

710 710. Bunnik EM, de Jong A, Nijsingh N, et al. The new genetics and informed consent: differentiating choice to preserve autonomy. Bioethics 2013; 27:348.

711 711. ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med 2012; 14:759.

712 712. Committee on Genetics and the Society for Maternal‐Fetal Medicine. Committee opinion no. 682: microarrays and next‐generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol 2016; 128:e262.

713 713. Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2017; 19:249.

714 714. Johnston JJ, Rubinstein WS, Facio FM, et al. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high‐penetrance mutations in cancer‐susceptibility genes. Am J Hum Genet 2012; 91:97.

715 715. Pinxten W, Howard HC. Ethical issues raised by whole genome sequencing. Best Pract Res Clin Gastroenterol 2014; 28:269.

716 716. Committee of the International Huntington Association and the World Federation of Neurology. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994; 31:555.

717 717. International Huntington Association and World Federation of Neurology. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 1994; 44:1533.

718 718. Skirton H, Goldsmith L, Jackson L, et al. Quality in genetic counseling for presymptomatic testing‐clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet 2013; 21:256.

719 719. MacLeod RTA, Frontali M, Evers‐Kiebooms G, et al. Recommendations for the predictive genetic test in Huntington's disease. Clin Genet 2013; 23:221.

720 720. Tibben A, Duivenvoorden J, Niermeijer MF, et al. Psychological effects of presymptomatic DNA testing for Huntington's disease in theDutch program. Psychosom Med 1994; 56:526.

721 721. Lawson K, Wiggins S, Green T, et al. Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. J Med Genet 1996; 33:856.

722 722. Wiggins S, Whyte P, Huggins M, et al. The psychological consequences of predictive testing for Huntington's disease. N Engl J Med 1992; 327:1401.

723 723. Evers‐Kiebooms G, Nys K, Harper P, et al. Predictive DNA‐testing for Huntington's disease and reproductive decision making: a European collaborative study. Eur J Hum Genet 2002; 10:167.

724 724. Migliore S, Jankovic J, Squitieri F. Genetic counseling in Huntington's disease: potential new challenges on horizon? Front Neurol 2019; 10:453.

725 725. Kenney C, Powell S, Jankovic J. Autopsy‐proven Huntington's disease with 29 trinucleotide repeats. Mov Dis 2007; 22:127.

726 726. Killoran A, Biglan KM, Jankovic J, et al. Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS. Neurology 2013; 80:2022.

727 727. Cubo E, Ramos‐Arroyo MA, Martinez‐Horta S, et al. Intermediate CAG repeats in Huntington' s disease. A longitudinal analysis of the European Huntington' s Disease Network Registry Cohort (S25. 003). Neurology 2016; 86:571.

728 728. Kay C, Collins JA, Miedzybrodzka Z, et al. Huntington disease reduced penetrance alleles occur at high frequency in the general population. Neurology 2016; 87:282.

729 729. Perry TL. Some ethical problems in Huntington's chorea. Can Med Assoc J 1981; 125:1098.

730 730. Quaid KA, Brandt J, Faden RR, et al. Knowledge, attitude and the decision to be tested for Huntington's disease. Clin Genet 1989; 36:431.

731 731. Moore RC, Xiang F, Monaghan J, et al. Huntington disease phenocopy is a familial prion disease. Am J Hum Genet 2001; 69:1385.

732 732. Evers‐Kiebooms G, Swerts A, Cassimann JJ, et al. The motivation of at‐risk individuals and their partners in deciding for or against predictive testing for Huntington's disease. Clin Genet 1989; 35:29.

733 733. Sorenson SA, Fenger K. Suicide in patients with Huntington's disease and their sibs. Am J Hum Genet 1991; 49:316.

734 734. Schoenfeld M, Myers RH, Cupples LA, et al. Increased rate of suicide among patients with Huntington's disease. J Neurol Neurosurg Psychiatry 1984; 47:1283.

735 735. Almqvist EW, Bloch M, Brinkman R, et al., on behalf of an International Huntington Disease Collaborative Group. A worldwide assessment of the frequency of suicide, suicide attempts or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet 1999; 64:1293.

736 736. van Duijn E, Kingma EM, van der Mast RC. Psychopathology in verified Huntington's disease gene carriers. J Neuropsychiatry Clin Neurosci 2007; 19:441.

737 737. Kachian ZR, Cohen‐Zimerman S, Bega D, et al. Suicidal ideation and behavior in Huntington's disease: systematic review and recommendations. J Affect Disord 2019; 250:319.

738 738. McGarry A, McDermott MP, Kieburtz K, et al. Risk factors for suicidality in Huntington disease. Neurology 2019; 92:e1643.

739 739. Wesson M, Boileau NR, Perlmutter JS, et al. Suicidal ideation assessment in individuals with premanifest and manifest Huntington disease. J Huntingtons Dis 2018; 7:239.

740 740. Markel DS, Young AB, Penney JB. At‐risk persons' attitudes toward presymptomatic and prenatal testing of Huntington's disease in Michigan. Am J Med Genet 1987; 26:295.

741 741. Lamport AN. Presymptomatic testing for Huntington's chorea: ethical and legal issues. Am J Med Genet 1987; 26:307.

742 742. Taylor CA, Myers RH. Long‐term impact of Huntington disease linkage testing. Am J Med Genet 1997: 70:365.

743 743. Hayden MR. Predictive testing for Huntington disease: are we ready for widespread community implementation? Am J Med Genet 1991; 40:515.

744 744. Nance MA, Leroy BS, Orr HT, et al. Protocol for genetic testing in Huntington disease: three years of experience in Minnesota. Am J Med Genet 1991; 40:518.

745 745. Decruyenaere M, Evers‐Kiebooms G, Cloostermans T, et al. Psychological distress in the 5‐year period after predictive testing for Huntington's disease. Eur J Hum Genet 2003; 11:30.

746 746. Winnberg E, Winnberg U, Pohlkamp L, et al. What to do with a second chance in life? Long‐term experiences of non‐carriers of Huntington's disease. J Genet Couns 2018; 27:1438.

747 747. Gusella JF, McNeil S, Persichetti F, et al. Huntington's disease. Cold Spring Harb Symp Quant Biol 1996; 61:615.

748 748. Kremer B, Goldberg P, Andrew SE. A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994; 330:1401.

749 749. Alonso ME, Yescas P, Rasmussen A, et al. Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis. Clin Genet 2002; 61:437.

750 750. Evans DGR, Maher EF, Macleod R, et al. Uptake of genetic testing for cancer predisposition. J Med Genet 1997; 34:746.

751 751. Veldhuisen B, Saris JJ, deHaij S, et al. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 1997; 61:547.

752 752. Deltas CC, Christodoulou K, Tjakouri C, et al. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1‐ and PKD2‐linked markers in Cypriot families. Clin Genet 1996; 50:10.

753 753. Pirson Y, Chaveau D. Intracranial aneurysms in autosomal dominant polycystic kidney disease. In: Watson ML, Torres VE, eds. Polycystic kidney disease. Oxford: Oxford University Press, 1996:530.

754 754. Liu D, Wang CJ, Judge DP, et al. A Pkd1‐Fbn1 genetic interaction implicates TGF‐β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2014; 25:81.

755 755. Sujansky E, Kreutzer SB, Johnson AM, et al. Attitudes of at‐risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease. Am J Med Genet 1990; 35:510.

756 756. Hannig VL, Hopkins JR, Johnson HK, et al. Presymptomatic testing for adult onset polycystic kidney disease in at‐risk kidney transplant donors. Am J Med Genet 1991; 40:425.

757 757. Oyazato Y, Iijima K, Emi M, et al. Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome. Kobe J Med Sci 2011; 57:E1.

758 758. Giardiello FM, Brensinger JD, Petersen GM, et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 1997; 336:823.

759 759. Hogan J, Turner A, Tucker K, et al. Unintended diagnosis of Von Hippel‐Lindau syndrome using Array Comparative Genomic Hybridization (CGH): counseling challenges arising from unexpected information. J Genet Couns 2013; 22:22.

760 760. Telander RL, Zimmerman D, Sizemore GW, et al. Medullary carcinoma in children: results of early detection and surgery. Arch Surg 1989; 124:841.

761 761. Ross LF. Predictive genetic testing for conditions that present in childhood. Kennedy Inst Ethics J 2002; 12:225.

762 762. Wertz DC, Fanos JH, Reilly PR. Genetic testing for children and adolescents: who decides? JAMA 1994; 272:875.

763 763. Lancaster JM, Wiserman RW, Berchuk A. An inevitable dilemma: prenatal testing for mutations in the BRCA1 breast‐ovarian cancer susceptibility gene. Obstet Gynecol 1996; 87:306.

764 764. DudokdeWit AC, Tibben A, Frets PG, et al. BRCA1 in the family: a case description of the psychological implications. Am J Med Genet 1997; 71:63.

765 765. Julian‐Reynier C, Eisinger F, Vennin P, et al. Attitudes towards cancer predictive testing and transmission of information to the family. J Med Genet 1996; 33:731.

766 766. Lancaster JM, Wiseman RW, Berchuck A. An inevitable dilemma: prenatal testing for mutations in the BRCA1 breast‐ovarian cancer susceptibility gene. Obstet Gynecol 1996; 87:306.

767 767. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72:1117.

768 768. National Comprehensive Cancer Network. Practice guidelines in oncology. Genetic/familial high‐risk assessment: breast and ovarian. Version 1. Fort Washington, PA: National Comprehensive Cancer Network, 2008.

769 769. Burke W, Daly M, Garber J, et al. Recommendations for follow‐up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 1997; 277:997.

770 770. King M‐C, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003: 302;643.

771 771. Laken SJ, Petersen GM, Gruber SB, et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997; 17:79.

772 772. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR‐1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65:905.

773 773. Paulson H. Repeat expansion diseases. Handb Clin Neurol 2018; 147:105.

774 774. Lehesjoki A‐E, Kälviäinen R. Progressive myoclonic epilepsy type 1. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, 2004 Jun 24 [updated 2020 Jul 2].

775 775. Ishikawa K, Dürr A, Klopstock T, et al. Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. Neurology 2011; 77:1853.

776 776. Corbett MA, Kroes T, Veneziano L, et al. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nat Commun 2019; 10:4920.

777 777. Campuzano V, Montermini L, Molot MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GA triplet repeat expansion. Science 1996; 271:1423.

778 778. Yum K, Wang ET, Kalsotra A. Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes. Curr Opin Genet Dev 2017; 44:30.

779 779. Jaspert A, Fahsold R, Grehl H, et al. Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol 1995; 242:99.

780 780. Schoser B. Myotonic dystrophy type 2. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, 2006 Sep 21 [updated 2020 Mar 19].

781 781. Higgs C, Hilbert JE, Wood L, et al. Reproductive cancer risk factors in women with myotonic dystrophy (DM): survey data from the US and UK DM registries. Front Neurol 2019; 10:1071.

782 782. Alsaggaf R, Pfeiffer RM, Wang Y, et al. Diabetes, metformin and cancer risk in myotonic dystrophy type 1. Int J Cancer 2020; 147:785.

783 783. Myers RH, MacDonald ME, Koroshetz WJ et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Ann Neurol 1992; 32:707.

784 784. Trottier Y, Briancalana V, Mandel JL. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J Med Genet 1994; 31:377.

785 785. Joosten IBT, Hellebrekers DMEI, de Greef BTA, et al. Parental repeat length instability in myotonic dystrophy type 1 pre‐ and protomutations. Eur J Hum Genet 2020; 28(7):956.

786 786. Margolesky J, Starosta‐Rubenstein S, Verma A, et al. A co‐occurrence of trinucleotide repeat disorders. Mov Disord Clin Pract 2018; 5(6):643.

787 787. McFarland KN, Liu J, Landrian I, et al. Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet 2013; 21:1272.

788 788. Cumming SA, Hamilton MJ, Robb Y, et al. De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. Eur J Hum Genet 2018; 26(11):1635.

789 789. Pešović J, Perić S, Brkušanin M, et al. Repeat interruptions modify age at onset in myotonic dystrophy type 1 by stabilizing DMPK expansions in somatic cells. Front Genet 2018; 9:601.

790 790. Laffita‐Mesa JM, Rodriguez Pupo JM, Moreno Sera R, et al. De novo mutations in ataxin‐2 gene and ALS risk. PLoS One 2013; 8:e70560.

791 791. Beaudin M, Matilla‐Dueñas A, Soon B, et al. The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force. Cerebellum 2019; 18(6):1098.

792 792. Robberecht W, Philips T. The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci 2013; 14:248.

793 793. Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross‐sectional study. Lancet Neurol 2012; 11:323.

794 794. Beck J, Poulter M, Hensman D, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92:345.

795 795. Williams KL, Fifita JA, Vucic S, et al. Pathophysiological insights into ALS with C9orf72 expansions. J Neurol Neurosurg Psychiatry 2013; 84:931.

796 796. Lindquist SG, Duno M, Batbayli M, et al. Corticobasal and ataxia syndromes widen the spectrum of C9orf72 hexanucleotide expansion disease. Clin Genet 2013; 83:279.

797 797. van der Zee J, Gijselinck I, Dillen L, et al. A pan‐European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 2013; 34:363.

798 798. Devenney EM, Ahmed RM, Halliday G, et al. Psychiatric disorders in C9orf72 kindreds: study of 1,414 family members. Neurology 2018; 91:e.1498.

799 799. Esselin F, Mouzat K, Polge A, et al. Clinical phenotype and inheritance in patients with C9ORF72 hexanucleotide repeat expansion: results from a large French cohort. Front Neurosci 2020; 14:316.

800 800. Shi D, Xu J, Niu W, et al. Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases. J Assist Reprod Genet 2020; 37:539.

801 801. Fernández RM, Lozano‐Arana MD, Sánchez B, et al. Preimplantation genetic diagnosis for myotonic dystrophy type 1 and analysis of the effect of the disease on the reproductive outcome of the affected female patients. Biomed Red Int 2017; 2017:9165363.

802 802. Milunsky A, Baldwin C, Milunsky J. Molecular genetics and prenatal diagnosis. In: Milunsky A, Milunsky J, eds. Genetic disorders and the fetus: diagnosis, prevention and treatment, 7th edn. Hoboken, NJ: John Wiley & Sons, 2016: 380.

803 803. Gerbrands LC, Haarman EG, Hankel MA, et al. Cystic fibrosis and Silver‐Russell syndrome due to a partial maternal isodisomy of chromosome 7. Clin Case Rep 2017; 5(10):1697.

804 804. Sotomayor FV, Abarca‐Barriga HH. Homozygous deletion of the CFTR gene caused by interstitial maternal isodisomy in a Peruvian child with cystic fibrosis. J Pediatr Genet 2019; 8(3):147.

805 805. Ammerpohl O, Martín‐Subero JI, Richter J, et al. Hunting for the 5th base: techniques for analyzing DNA methylation. Biochim Biophys Acta 2009; 1790:847.

806 806. Dedeurwaerder S, Defrance M, Calonne E, et al. Evaluation of the Infinium methylation 450K technology. Epigenomics 2011; 3:771.

807 807. Begemann M, Rezwas FI, Beygo J, et al. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. J Med Genet 2018; 55:497.

808 808. Yauy K, de Leeuw N, Yntema HG, et al. Accurate detection of clinically relevant uniparental disomy from exome sequencing data. Genet Med 2020; 22:803.

809 809. Bhoj EJ, Rajabi F, Baker SW, et al. Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse‐human conservation in the identification of novel human disease loci. Eur J Med Genet 2020; 63:103903.

810 810. del Gaudio D, Shinawi M, Astbury C, et al. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020; 22:1133.

811 811. Court F, Martin‐Trujillo A, Romanelli V, et al. Genome‐wide allelic methylation analysis reveals disease‐specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat 2013; 34:595.

812 812. Elbracht M, Mackay D, Begemann M, et al. Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences. Hum Reprod Update 2020; 26:197.

813 813. Docherty LE, Rezwan FI, Poole RL, et al. Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. Nat Commun 2015; 6:8086.

814 814. Soellner L, Begemann M, Degenhardt F, Geipel A, et al. Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring. Eur J Hum Genet 2017; 25:924.

815 815. Lee MT, Bonneau AR, Giraldez AJ. Zygotic genome activation during the maternal‐to‐zygotic transition. Annu Rev Cell Dev Biol 2014; 30:581.

816 816. Zhou LQ, Dean J. Reprogramming the genome to totipotency in mouse embryos. Trends Cell Biol 2015; 25:82.

817 817. Vicenz C, Lovett JL, Wu W, et al. Loss of imprinting in human placentas is widespread, coordinated, and predicts birth phenotypes. Mol Biol Evol 2020; 37:429.

818 818. Giabicani É, Brioude F, Le Bouc Y, et al. Imprinted disorders and growth. Ann Endocrinol (Paris) 2017; 78:112.

819 819. Rhon‐Calderon EA, Vrooman LA, Riesche L, et al. The effects of assisted reproductive technologies on genomic imprinting in the placenta. Placenta 2019; 84:37.

820 820. Litzky JP, Deyssenroth MA, Everson TM, et al. Prenatal exposure to maternal depression and anxiety on imprinted gene expression in placenta and infant neurodevelopment and growth. Pediatr Res 2018; 83(5):1075.

821 821. John RM. Imprinted genes and the regulation of placental endocrine function: pregnancy and beyond. Placenta 2017; 56:86.

822 822. Hattori H, Hiura H, Kitamura A, et al. Association of four imprinting disorders and ART. Clin Epigenetics 2019; 11:21.

823 823. Uk A, Collardeau‐Frachon S, Scanvion Q, et al. Assisted reproductive technologies and imprinting disorders: results of a study from a French congenital malformations registry. Eur J Med Genet 2018; 61:518.

824 824. Mackay DJG, Temple IK. Human imprinting disorders: principles, practice, problems, and progress. Eur J Med Genet 2017; 60:618.

825 825. Henningsen AA, Gissler M, Rasmussen S, et al. Imprinting disorders in children born after ART: a Nordic study from CoNARTaS group. Hum Reprod 2020; 35:1178.

826 826. Johnson JP, Beischel L, Schwanke C, et al. Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith‐Wiedemann syndrome. J Assist Reprod Genet 2018; 35:985.

827 827. Mussa A, Molinatto C, Cerrato F, et al. Assisted reproductive techniques and risk of Beckwith‐Wiedemann syndrome. Pediatrics 2017; 140:e20164311.

828 828. Cortessis VK, Azadian M, Buxbaum J, et al. Comprehensive meta‐analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. J Assist Reprod Genet 2018; 35:943.

829 829. Monk D, Mackay DJG, Eggermann T, et al. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact, Nat Rev Genet 2019; 20:235.

830 830. Court F, Tayama C, Romanelli V, et al. Genome‐wide parent‐of‐origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation‐independent mechanism of establishment. Genome Res 2014; 24:554.

831 831. Weksberg R, Shuman C, Caluseriu O, et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith‐Wiedemann syndrome. Hum Mol Genet 2002; 11:1317.

832 832. Bliek J, Alders M, Maas SM, et al. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. Eur J Hum Genet 2009; 17:1625.

833 833. Riess A, Binder G, Ziegler J, et al. First report on concordant monozygotic twins with Silver‐Russell syndrome and ICR1 hypomethylation. Eur J Med Genet 2016; 59:1.

834 834. DeAngelis AM, Martini AE, Owen CM. Assisted reproductive technology and epigenetics. Semin Reprod Med 2018; 36:221.

835 835. Bragin E, Chatzimichali EA, Wright CF, et al. DECIPHER: database for the interpretation of phenotype‐linked plausibly pathogenic sequence and copynumber variation. Nucleic Acids Res 2014; 42(Database issue):D993.

836 836. Johnston JJ, Biesecker LG. Databases of genomic variation and phenotypes: existing resources and future needs. Hum Mol Genet 2013; 22(R1):R27.

837 837. Lu J, Campeau P, Lee B. Genotype‐phenotype correlation – promiscuity in the era of next generation sequencing. N Engl J Med 2014; 371:593.

838 838. Adam MP, Banka S, Bjornsson HT, et al. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet 2019; 56:89.

839 839. Bögershausen N, Gatinois V, Riehmer V, et al. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X‐linked Kabuki syndrome subtype 2. Hum Mutat 2016; 37:847.

840 840. Shangguan H, Su C, Ouyang Q, et al. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of the literature. Orphanet J Rare Dis 2019; 14:255.

841 841. Banka S, Lederer D, Benoit V, et al. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2). Clin Genet 2015; 87:252.

842 842. Yap KL, Johnson AEK, Fischer D, et al. Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”. Genet Med 2019; 21:262.

843 843. Courcet JB, Faivre L, Michot C, et al. Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 2013; 163:742.

844 844. Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med 1979; 300:772.

845 845. Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 1993; 53:85.

846 846. Lewis BD, Nelson PV, Robertson EF, et al. Mutation analysis of 28 Gaucher disease patients: the Australasian experience. Am J Med Genet 1994; 49:218.

847 847. Kerem E, Corey M, Kerem B, et al. The relationship between genotype and phenotype in cystic fibrosis: analysis of the most common mutation. N Engl J Med 1990; 323:1517.

848 848. Cystic Fibrosis Genotype‐Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993; 329:1308.

849 849. Dork T, Wulbrand U, Richter T, et al. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane regulator gene. Hum Genet 1991; 87:441.

850 850. Le C, Ramjeesingh M, Reys E, et al. The cystic fibrosis mutation (F508) does not influence the chloride channel activity of CFTR. Nat Genet 1993; 3:311.

851 851. Cutting GR. Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann NY Acad Sci 2010; 1214:57.

852 852. Bradley GM, Blackman SM, Watson CP, et al. Genetic modifiers of nutritional status in cystic fibrosis. Am J Clin Nutr 2012; 96:1299.

853 853. Blackman SM, Commander CW, Watson C. Genetic modifiers of cystic fibrosis‐related diabetes. Diabetes 2013; 62:3627.

854 854. Tuddenham EGD. Factor VIII and haemophilia A. Baillière's Clin Haematol 1989; 2:849.

855 855. McVey JH, Rallapalli PM, Kemball‐Cook G, et al. The European association for haemophilia and allied disorders (EAHAD) coagulation factor variant databases: important resources for haemostasis clinicians and researchers. Haemophilia 2020; 26:306.

856 856. Atik T, Işik E, Onay H, et al. Factor 8 gene mutation spectrum of 270 patients with haemophilia A: identification of 36 novel mutations. Turk J Haematol 2020; 37(3):145.

857 857. Miller DS, Steinbrecher RA, Wieland K, et al. The molecular genetic analysis of haemophilia A: characterization of six partial deletions in the factor VIII gene. Hum Genet 1990; 86:219.

858 858. Sarri CA, Roussaki‐Schulze A, Vasilopoulos Y, et al. Netherton syndrome: a genotype‐phenotype review. Mol Diagn Ther 2017; 21:137.

859 859. Koczkowska M, Callens T, Chen Y, et al. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p. Met1149, p.Arg1276, and p.Lys1423: genotype‐phenotype study in neurofibromatosis type 1. Hum Mutat 2020; 41:299.

860 860. Lehtonen HJ, Sipponen T, Tojander S, et al. Segregation of a missense variant in entire smooth muscle actin gamma‐2 with autosomal dominant familial visceral myopathy. Gastroenterology 2012; 143:1482.

861 861. Berdon W, Baker D, Blanc W, et al. Megacystis‐microcolon‐intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR Am J Roentgenol 1976; 126:957.

862 862. Puri P, Shinkai M. Megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome. Semin Pediatr Surg 2005; 14:58.

863 863. Milunsky M, Baldwin C, Zhang X, et al. Diagnosis of chronic intestinal pseudo‐obstruction & megacystis by sequencing the ACTG2 gene. J Pediatr Gastroenterol Nutr 2017; 65:384.

864 864. Milunsky A, Lazier J, Baldwin C, et al. Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. Prenat Diagn 2017; 37:1254.

865 865. Xiromerisiou G, Marogianni C, Dadouli K, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: genotype‐phenotype correlations of all published cases. Neurol Genet 2020; 6:e434.

866 866. Zhang L, Dong X, Lee M, et al. Single‐cell whole‐genome sequencing reveals the functional landscape of somatic mutations in B lymphocytes across human lifespan. Proc Natl Acad Sci U S A 2019; 116:9014.

867 867. Vijg J. Somatic mutations, genome mosaicism, cancer and aging. Curr Opin Genet Dev 2014; 26:141.

868 868. Mirzaa G, Timms AE, Conti V, et al. PIK3CA‐associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight 2016; 1:e.87623.

869 869. Lalonde E, Ebrahimzadeh J, Rafferty K, et al. Molecular diagnosis of somatic overgrowth conditions: a singular‐center experience. Mol Genet Genomic Med 2019; 7:e536.

870 870. Quinlan‐Jones E, Williams D, Bell C, et al. Prenatal detection of PIK3CA‐related overgrowth spectrum in cultured amniocytes using long‐range PCR and next‐generation sequencing. Pediatr Dev Pathol 2017; 20(1):54.

871 871. Tung JY, Lai SHY, Au SLK, et al. Coexistence of paternally‐inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism. Int J Pediatr Endocrinol 2020; 2020:13.

872 872. Koh HY, Lee JH. Brain somatic mutations in epileptic disorders. Mol Cells 2018; 41:881.

873 873. Liu AJ, Yang XX, Wu QX, et al. Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome. Zhonghua Er Ke Za Zhi 2017; 55:818.

874 874. Dehainault C, Golmard L, Millot GA, et al. Mosaicism and prenatal diagnosis options: insights from retinoblastoma. Eur J Hum Genet 2017; 25:381.

875 875. D'Gama AM, Walsh CA. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci 2018; 21:1504.

876 876. Rodin RE, Walsh CA. Somatic mutation in pediatric neurological diseases. Pediatr Neurol 2018; 87:20.

877 877. Pham J, Shaw C, Pursley A, et al. Somatic mosaicism detected by exon‐targeted, high resolution aCGH in 10362 consecutive cases. Eur J Hum Genet 2014; 22:969.

878 878. Donnai D, Read AP, McKeown C, et al. Hypomelanosis of Ito‐A manifestation of mosaicism or chimerism. J Med Genet 1988; 25:809.

879 879. Thomas IT, Frias JL, Cantu ES, et al. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet 1989; 45:193.

880 880. Raghunath M, Mackay K, Dalgleish R, et al. Genetic counseling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr 1995; 154:123.

881 881. Lund AM, Nicholls AC, Schwartz M, et al. Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. Acta Paediatr 1997; 86:711.

882 882. Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 1994; 6:409.

883 883. Cancel G, Durr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997; 6:709.

884 884. Satge D, Geneix A, Goburdhun J, et al. A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women. Clin Genet 1996; 50:470.

885 885. Comstock JM, Putnam AR, Sangle N, et al. Recurrence of achondrogenesis type 2 in sibs: additional evidence for germline mosaicism. Am J Med Genet A 2010; 152A;1822.

886 886. Abe J, Nakamura K, Nishikomori R, et al. A nationwide survey of Aicardi‐Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. Rheumatology (Oxford) 2014; 53:448.

887 887. Bruttini M, Vitelli F, Meloni I, et al. Mosaicism in Alport syndrome with genetic counselling. J Med Genet 2000; 37:717.

888 888. Erickson RP. Somatic gene mutation and human disease other than cancer: an update. Mutat Res 2010; 705:96.

889 889. Meira JGC, Sarno MAC, Faria ÁCO, et al. Diagnosis of Atelosteogenesis type I suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism. Rev Bras Ginecol Obstet 2018; 40(9):570.

890 890. Haack TB, Hogarth P, Kruer MC, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X‐linked dominant form of NBIA. Am J Hum Genet 2012; 91:1144.

891 891. Roux‐Buisson N, Egéa G, Denjoy I, et al. Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counseling and patient caring. Europace 2011; 13:120.

892 892. Catteruccia M, Fattori F, Codemo V, et al. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 2013; 23:229.

893 893. Taioli F, Bertolasi L, Ajena D, et al. Parental mosaicism of a novel PMP22 mutation with minimal neuropathic phenotype. J Peripher Nerv Syst 2012; 17:414.

894 894. Omoyinmi E, Melo Gomes S, Standing A, et al. Brief report: whole‐exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheumatol 2014; 66:197.

895 895. Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum 2011; 63:3625.

896 896. Nagendran S, Richards AJ, McNinch A, et al. Somatic mosaicism and the phenotype expression of COL2A1 mutations. Am J Med Genet A 2012; 158A:1204.

897 897. Meguro T, Yoshida Y, Hayashi M, et al. Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. J Hum Genet 2012; 57:335.

898 898. Ng BG, Buckingham KJ, Raymond K, et al. Mosaicism of the UDP‐galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 2013; 92:632.

899 899. Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012; 90:1108.

900 900. Baquero‐Montoya C, Gil‐Rodríguez MC, Braunholz D, et al. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin Genet 2014; 86:595.

901 901. Girisha KM, Lewis LE, Phadke SR, et al. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Am J Med Genet A 2010; 152A:2861.

902 902. Alzualde A, Moreno F, Martinez‐Lage P, et al. Somatic mosaicism in a case of apparently sporadic Creutzfeldt‐Jakob disease carrying a de novo D178n mutation in the PRNP gene. Am J Med Genet B Neuropsychiatr Genet 2010; 153B:1283.

903 903. Goriely A, Lord H, Lim J, et al. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: implications for genetic testing in “paternal age‐effect” syndromes. Am J Med Genet A 2010; 152:2067.

904 904. Zampatti S, Mela J, Peconi C, et al. Identification of Duchene/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis. Prenat Diagn 2018; 38(13):1096.

905 905. Filho AB, Souza J, Faucz FR, et al. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization. Am J Med Genet A 2011; 155A:1152.

906 906. Bourdeaut F, Hérault A, Gentien D, et al. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabomyosarcoma. J Med Genet 2010; 47:859.

907 907. Terracciano A, Specchio N, Darra F, et al. Somatic mosaicism of PCDH19 mutation in a family with low‐penetrance EFMR. Neurogenetics 2012; 13:341.

908 908. Dibbens LM, Kneen R, Bayly MA, et al. Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology 2011; 76:1514.

909 909. Maclellan RA, Luks VL, Vivero MP, et al. PIK3CA activating mutations in facial infiltrating lipomatosis. Plast Reconstr Surg 2014; 133:12e.

910 910. Jansen AC, Oostra A, Desprechins B, et al. TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology 2011; 76:988.

911 911. Pinto FO, Leblanc T, Chamousset D, et al. Diagnosis of Fanconi anemia in patients with bone marrow failure. Haematologica 2009; 94:487.

912 912. Li X, Jiang M, Han W, et al. A novel TNNI2 mutation causes Freeman‐Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. Gene 2013; 527:630.

913 913. Filipe B, Albuquerque Q, Bik E, et al. APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. Dis Colon Rectum 2009; 52:1516.

914 914. Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K‐AKT3‐mTOR pathway cause of hemi‐megalencephaly. Nat Genet 2012; 44:941.

915 915. Eyries M, Coulet F, Girerd B, et al. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. Clin Genet 2012; 82:173.

916 916. Pastrello C, Fornasarig M, Pin E, et al. Somatic mosaicism in a patient with Lynch syndrome. Am J Med Genet A 2009; 149A:212.

917 917. Hsu AP, Sowerwine KJ, Lawrence MG, et al. Intermediate phenotypes in patients with autosomal dominant hyper‐IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol 2013; 131:1586.

918 918. Rabin R, Millan F, Cabrera‐Luque J, et al. Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent. Am J Med Genet A 2018; 176(12):2907.

919 919. Tsubahara M, Hayashi Y, Niijima S, et al. Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene. Clin Endocrinol (Oxf) 2012; 76:420.

920 920. Doisaki S, Muramatsu H, Shimada A, et al. Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia. Blood 2012; 120:1485.

921 921. Hafner C, Toll A, Gantner S, et al. Keratinocyte epidermal nevi are associated with mosaic RAS mutations. J Med Genet 2012; 49:249.

922 922. Prochazkova K, Pavlikova K, Minarik M, et al. Somatic TP53 mosaicism in a patient with Li‐Fraumeni syndrome. Am J Med Genet A 2009; 149A:206.

923 923. Thibodeau IL, Xu J, Li Q, et al. Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43‐deletion mutant identified from atrial tissue. Circulation 2010; 122:236.

924 924. Amary MF, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet 2011; 43:1262.

925 925. Vissers LE, Fano V, Martinelli D, et al. Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA). Am J Med Genet A 2011; 155A:2609.

926 926. Odgerel Z, Sarkozy A, Lee HS, et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord 2010; 20:438.

927 927. Catalli C, Morgante A, Iraci R, et al. Validation of sensitivity and specificity of tetraplet‐primed PCR (TP‐PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2). J Mol Diagn 2010; 12:601.

928 928. Marini M, Bocciardi R, Gimelli S, et al. A spectrum of LMX1B mutations in Nail‐Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med 2010; 12:431.

929 929. Messiaen L, Vogt J, Bengesser K, et al. Mosaic type‐1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type‐1 (NF1). Hum Mutat 2011; 32:213.

930 930. Goutagny S, Bah AB, Parfait B, et al. Neurofibromatosis type 2 in the elderly population: clinical and molecular features. Am J Med Genet A 2013; 161A:667.

931 931. Saitsu H, Hoshino H, Kato M, et al. Paternal mosaicism of an STXBP1 mutation in OS. Clin Genet 2011; 80:484.

932 932. Szuhai K, Jennes I, de Jong D, et al. Tiling resolution array‐CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Hum Mutat 2011; 32:e2063.

933 933. Hague J, Delon I, Brugger K, et al. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. Am J Med Genet A 2017; 173(7):1931.

934 934. Kalish JM, Conlin LK, Mostoufi‐Moab S, et al. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low‐level uniparental disomy. Am J Med Genet A 2013; 161A:993.

935 935. Steinbusch CV, van Roozendaal KE, Tserpelis D, et al. Somatic mosaicism in a mother of two children with Pitt‐Hopkins syndrome. Clin Genet 2013; 83:73.

936 936. Buffet A, Smati S, Mansuy L, et al. Mosaicism in HIF2A‐related polycythemia‐paraganglioma syndrome. J Clin Endocrinol Metab 2014; 99:e369.

937 937. Doubaj Y, De Sandre‐Giovannoli A, Vera EV, et al. An inherited LMNA gene mutation in atypical Progeria syndrome. Am J Med Genet A 2012; 158A:2881.

938 938. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011; 365:611.

939 939. Ngai YF, Chijiwa C, Mercimek‐Mahmutoglu S, et al. Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: somatic mosaicism in a mother with two affected sons. Am J Med Genet A 2010; 152A:2784.

940 940. Coughlin CR 2nd, Krantz ID, Schmitt ES, et al. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. Mol Genet Metab 2010; 100:296.

941 941. Jin ZB, Gu F, Matsuda H, et al. Somatic and gonadal mosaicism in X‐linked retinitis pigmentosa. Am J Med Genet A 2007; 143A:2544.

942 942. Rushlow D, Piovesan B, Zhang K, et al. Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat 2009; 30:842.

943 943. Psoni S, Sofocleous C, Traeger‐Synodinos, et al. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. Pediatr Res 2010; 67:551.

944 944. Bartnik M, Derwińska K, Gos M, et al. Early‐onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med 2011; 13:447.

945 945. Bartsch O, Kress W, Kempf O, et al. Inheritance and variable expression in Rubinstein‐Taybi syndrome. Am J Med Genet A 2010; 152A:2254.

946 946. Chiang PW, Lee NC, Chien N. Somatic and germ‐line mosaicism in Rubinstein‐Taybi syndrome. Am J Med Genet A 2009; 149A:1463.

947 947. Carmignac V, Thevenon J, Adès L, et al. In‐frame mutations in exon 1 of SKI cause of dominant Shprintzen‐Goldberg syndrome. Am J Hum Genet 2012; 91:950.

948 948. Castronovo C, Rusconi D, Crippa M, et al. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype. Am J Med Genet A 2013; 161A:611.

949 949. Désir J, Cassart M, Donner C, et al. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dysplasia Torrance type in mother and fetus with the same COL2A1 mutation. Am J Med Genet A 2012; 158A:1948.

950 950. Mineyko A, Doja A, Hurteau J, et al. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. J Child Neurol 2010; 25:738.

951 951. Isodor B, Capito C, Paris F, et al. Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome. J Clin Endocrinol Metab 2009; 94:3467.

952 952. Dufendach KA, Giudicessi JR, Boczek NJ, et al. Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. Pediatrics 2013; 131:e1991.

953 953. Inbar‐Feigenberg M, Choufani S, Cytrynbaum C, et al. Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. Am J Med Genet A 2013; 161A:13.

954 954. Davis BR, Candotti F. Revertant somatic mosaicism in the Wiskott‐Aldrich syndrome. Immunol Res 2009; 44:127.

955 955. Kawai T, Nishikomori R, Izawa K, et al. Frequent somatic mosaicism of NEMO in T cells of patients with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood 2012; 119:5458.

956 956. Yamada M, Okura Y, Suzuki, et al. Somatic mosaicism in two unrelated patients with X‐linked chronic granulomatous disease characterized by the presence of a small population of normal cells. Gene 2012; 497:110.

957 957. Twigg SR, Matsumoto K, Kidd AM, et al. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 2006; 78:999.

958 958. Cheillan D, Joncquel‐Chevalier Curt M, Briand G, et al. Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. Orphanet J Rare Dis 2012; 7:96.

959 959. Chen XL, Zhao Y, Ke HP, et al. Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. Gene 2012; 507:174.

960 960. Juan‐Mateu J, Paradas C, Olivé M, et al. Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle. Clin Genet 2012; 82:574.

961 961. Vreeburg M, van Geel M, van den Heuij LG, et al. Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. J Eur Acad Dermatol Venereol 2011; 25:592.

962 962. Maas SM, Lombardi MP, van Essen AJ, et al. Phenotype and genotype in 17 patients with Goltz‐Gorlin syndrome. J Med Genet 2009; 46:716.

963 963. Margari L, Lamanna AL, Buttiglione M, et al. Long‐term follow‐up of neurological manifestations in a boy with incontinentia pigmenti. Eur J Pediatr 2013; 172:1259.

964 964. Donsante A, Johnson P, Jansen LA, et al. Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain. Am J Med Genet A 2010; 152A:2529.

965 965. Chénier S, Noor A, Dupuis L, et al. Osteopathia striata with cranial sclerosis and developmental delay in a male with mosaic deletion in chromosome region Xq11.2. Am J Med Genet A 2012; 158A:2946.

966 966. Oegema R, Hulst JM, Theuns‐Walks SD, et al. Novel no‐stop FLNA mutation causes multi‐organ involvement in males. Am J Med Genet A 2013; 161:2376.

967 967. Ducamp S, Schneider‐yin X, de Rooij F, et al. Molecular and functional analysis of the C‐terminal region of human erythroid‐specific 5‐aminolevulinic synthase associated with X‐linked dominant protoporphyria (XLDPP). Hum Mol Genet 2013; 22:1280.

968 968. Quélin C, Saillour Y, Souville I, et al. Mosaic DCX deletion causes subcortical band heterotopia in males. Neurogenetics 2012; 13:367.

969 969. Ptacek JT, Eberhardt TL. Breaking bad news. JAMA 1996; 276:496.

970 970. Luz R, George A, Spitz E, et al. Breaking bad news in prenatal medicine: a literature review. J Reprod Infant Psychol 2017; 35:14‐31.

971 971. Bond CF, Anderson EL. The reluctance to transmit bad news: private discomfort or public display? J Eur Soc Psychol 1987; 23:176.

972 972. Monaghan KG, Leach NT, Pekarek D, et al. The use of fetal exome sequencing in the prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020; 22:675.

973 973. Horn R, Parker M. Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn 2018; 38:20.

974 974. Parker M, Lucassen A. Using a genetic test result in the care of family members: How does the duty of confidentiality apply? Eur J Hum Genet 2018; 26:955.

975 975. Robyr R, Bernard JP, Roume J, et al. Familial diseases revealed by a fetal anomaly. Prenat Diagn 2006; 26:1224.

976 976. Donnelly JC, Platt LD, Rebarber, A, et al. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol 2014; 124:83.

977 977. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367:2175.

978 978. Hawkins A, Stenzel A, Taylor J, et al. Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities. J Genet Couns 2013; 22:238.

979 979. Blakeley C, Smith DM, Johnstone ED, et al. Parental decision‐making following a prenatal diagnosis that is lethal, life‐limiting, or has long term implications for the future child and family: a meta‐synthesis of qualitative literature. BMC Med Ethics 2019; 20:56.

980 980. Supiano K, Vaughn‐Cole B. The impact of personal loss on the experience of health professions: graduate students in end‐of life and bereavement care. Death Stud 2011; 35:73.

981 981. Silver J, Caleshu C, Casson‐Parkin S, et al. Mindfulness among genetic counselors is associated with increased empathy and work engagement and decreased burnout and compassion fatigue. J Genet Couns 2018; 27:1175.

982 982. Verp M, Bombard A, Simpson J, et al. Parental decision following prenatal diagnosis of fetal chromosome abnormality. Am J Med Genet 1988; 29:613.

983 983. Meryash D, Abuelo D. Counselling needs and attitudes toward prenatal diagnosis and abortion in fragile X families. Clin Genet 1988; 33:349.

984 984. Sandelowski M, Barroso J. The travesty of choosing after positive prenatal diagnosis. J Obstet Gynecol Neonatal Nurs 2005; 34(3):307.

985 985. Lou S, Jensen LG, Peterson OB, et al. Parental response to severe or lethal prenatal diagnosis: a systematic review of qualitative studies. Prenat Diagn 2017; 37(8):731.

986 986. Chow EWC, Watson M, Young DA, et al. Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophr Res 2006; 87:270.

987 987. Evers LJ, De Die‐Smulders CE, Smeets EE, et al. The velo‐cardio‐facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age. Genet Couns 2009; 20:307.

988 988. Baker K, Vorstman JAS. Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome? Curr Opin Neurol 2012; 25:131.

989 989. Murphy KC. Annotation: velo‐cardio‐facial syndrome. J Child Psychol Psychiat 2005; 46:563.

990 990. Murphy KC. Schizophrenia and velo‐cardio‐facial syndrome. The Lancet 2002; 359:426.

991 991. McDonald‐McGinn DM, Hain HS, et al. 22q11.2 Deletion syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, September 23, 1999.

992 992. White‐van Mourik MCA, Connor JM, Ferguson‐Smith MA. The psychosocial sequelae of a second‐trimester termination of pregnancy for fetal abnormality. Prenat Diagn 1992; 12:189.

993 993. Blumberg BD, Golbus MC, Hanson K. The psychological sequelae of abortion performed for a genetic indication. Am J Obstet Gynecol 1975; 122:799.

994 994. Blumberg BD. The emotional implications of prenatal diagnosis. In: Emery, AEH, Pullen IM, eds. Psychological aspects of genetic counselling. London: Academic Press, 1984:202.

995 995. October T, Dryden‐Palmer K, Copnell B, et al. Caring for parents after the death of a child. Pediatr Crit Care Med 2018; 19(8S Suppl 2):S61.

996 996. Udipi S, Veach PM, Kao J, et al. The psychic costs of empathic engagement: personal and demographic predictors of genetic counselor compassion fatigue. J Genet Couns 2008: 17;459.

997 997. Parkes CM. Bereavement. Studies of grief in adult life. London: Tavistock Publications, 1972.

998 998. Worden JW. Grief counseling and grief therapy, 2nd edn. New York: Springer, 1991.

999 999. Cacciatore J. Psychological effects of stillbirth. Semin Fetal Neonatal Med 2013; 18:76.

1000 1000. Appleton R, Gibson B, Hey E. The loss of a baby at birth: the role of the bereavement officer. Br J Obstet Gynaecol 1993; 100:51.

1001 1001. Seller M, Barnes C, Ross S, et al. Grief and midtrimester fetal loss. Prenat Diagn 1993; 13:341.

1002 1002. Fanos JH. Developmental tasks of childhood and adolescence: implications for genetic testing. Am J Med Genet 1997; 71:22.

1003 1003. Wertz DC, Fanos JH, Reilly PR. Genetic testing for children and adolescents: who decides? JAMA 1994; 272:875.

1004 1004. Clinical Genetics Society (UK). Report of a working party: the genetic testing of children. J Med Genet 1994; 31:785.

1005 1005. American Society of Human Genetics and American College of Medical Genetics. Points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 1995; 57:1233.

1006 1006. Green M, Solnit AJ. Reactions to the threatened loss of a child: a vulnerable child syndrome. Pediatrics 1964; 034:58.

1007 1007. McIntosh N, Eldrige C. Neonatal death: the neglected side of neonatal care? Arch Dis Child 1984; 59:585.

1008 1008. Bourne S. The psychological effects of a stillbirth on women and their doctors. J R Coll Gen Pract 1968; 16:103.

1009 1009. Crowther ME. Communication following a stillbirth or neonatal death: room for improvement. Br J Obstet Gynaecol 1995; 102:952.

1010 1010. American College of Obstetricians and Gynecologists, Society for Maternal‐Fetal Medicine. Management of Stillbirth: Obstetric Care Consensus No, 10. Obstet Gynecol 2020; 135:e110.

1011 1011. Causes of death among stillbirths. Stillbirth Collaborative Research Network Writing Group. JAMA 2011; 306:2459.

1012 1012. Laury A, Sanchez‐Lara PA, Pepkowitz S, et al. A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000. Am J Med Genet A 2007; 143A:3107.

1013 1013. Korteweg FJ, Bouman K, Erwich JJ, et al. Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup. Obstet Gynecol 2008; 111:865.

1014 1014. Saleem S, Tikmani SS, McClure EM, et al. Trends and determinants from stillbirth in developing countries: results from the Global Network's Population‐Based Birth Registry. Reprod Health 2018; 15(Suppl 1):100.

1015 1015. Stanley KE, Giordano J, Thorsten V, et al. Casual genetic variants in stillbirth. N Engl J Med 2020; 383:1107.

1016 1016. Barrett PM, McCarthy FP, Evans M, et al. Stillbirth is associated with increased risk of long‐term maternal renal disease: a nationwide cohort study. Am J Obstet Gynecol 2020; 223:427.e1.

1017 1017. Brookes JAS, Hall‐Craggs MA, Sams VR, et al. Noninvasive perinatal necropsy by magnetic resonance imaging. Lancet 1996; 348:1139.

1018 1018. Gagnon A, Wilson RD, Allen VM. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can 2009; 31:875.

1019 1019. Desilets V, Oligny LL. Fetal and perinatal autopsy in prenatally diagnosed fetal abnormalities with normal karyotype. J Obstet Gynaecol Can 2011; 267:1047.

1020 1020. Sethi N, Funamoto K, Ingbar C, et al. Noninvasive fetal electrocardiography in the diagnosis of Long QT syndrome: a case series. Fetal Daign Ther 2020; 47(9):711.

1021 1021. Shim SH, Ito M, Maher T, et al. Gene sequencing in neonates and infants with the long QT syndrome. Genet Test 2005; 9:281.

1022 1022. Cuneo BF, Kaizer AM, Clur SA, et al. Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study. Am J Obstet Gynecol 2020; 222:263.e1.

1023 1023. Lewkowitz AK, Rosenbloom JI, López JD, et al. Association between stillbirth at 23 weeks of gestation or greater and severe maternal morbidity. Obstet Gynecol 2019; 134:964.

1024 1024. Nicholas AM, Lewin TJ. Grief reactions of parental couples: congenital handicap and cot death. Med J Aust 1986; 144:292.

1025 1025. Lafarge C, Mitchell K, Fox P. Perinatal grief following a termination of pregnancy for foetal abnormality: the impact of coping strategies. Prenat Diagn 2013; 33:1173.

1026 1026. Mashiach R, Anter D, Melamed N, et al. Psychological response to multifetal reduction and pregnancy termination due to fetal abnormality. J Matern Fetal Neonatal Med 2013, 26:32.

1027 1027. Lewis E, Bryan E. Management of perinatal loss of a twin. BMJ 1988; 297:1321.

1028 1028. Lewis E. Stillbirth: psychological consequences and strategies of management. In: Milunsky A, ed. Advances in perinatal medicine, vol. 3. New York: Plenum, 1983:205.

1029 1029. McPhee SJ, Bottles K, Lo B, et al. To redeem them from death: reactions of family members to autopsy. Am J Med 1986; 80:665.

1030 1030. Irvin NA, Kennell JH, Klaus MH. Caring for the parents of an infant with a congenital malformation. In: Warkany J, ed. Congenital malformations: notes and comments. Chicago: Year Book Medical Publishers, 1971.

1031 1031. Klaus MH, Kennell JH. Caring for parents of an infant who dies: maternal–infant bonding. St Louis, MO: CV Mosby, 1976.

1032 1032. Blood C, Cacciatore J. Parental grief and memento mori photography: narrative, meaning, culture and context. Death Stud 2014; 38:224.

1033 1033. Flenady V, Boyle F, Koopmans L, et al. Meeting the needs of parents after a stillbirth or neonatal death. BJOG 2014; 121(Suppl 4):137.

1034 1034. Furlong RM, Hobbins JC. Grief in the perinatal period. Obstet Gynecol 1983; 61:497.

1035 1035. Shulman LP, Grevengood C, Phillips OP, et al. Family planning decisions after prenatal detection of fetal abnormalities. Am J Obstet Gynecol 1994; 171:1373.

1036 1036. Rowe J, Clyman R, Green C, et al. Follow‐up of families who experience a perinatal death. Pediatrics 1978; 62:166.

1037 1037. Forrest GC, Standish E, Baum JD. Support after perinatal death: a study of support and counseling after bereavement. BMJ 1982; 285:1475.

1038 1038. Moldovan R, Pintea S, Austin J. The efficacy of genetic counseling for psychiatric disorders: a meta‐analysis. J Genet Couns 2017; 26:1341.

1039 1039. Caldwell S, Wusik K, He H, et al. Development and Validation of the Genetic Counseling Self‐Efficacy Scale (GCSES). J Genet Couns 2018; 27:1248.

1040 1040. Keller H, Wusik K, He H, et al. Further validation of the Genetic Counseling Self‐Efficacy Scale (GCSES): its relationship with personality characteristics. J Genet Couns 2020; 29(5):748.

1041 1041. Borle K, Morris E, Inglis A, et al. Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes. Clin Genet 2018; 94:239.

1042 1042. Clarke A, Parsons E, Williams A. Outcomes and process in genetic counseling. Clin Genet 1996; 50:462.

1043 1043. Voorwinden JS, Plantinga M, Ausems M, et al. Cognitive and affective outcomes of genetic counseling in the Netherlands at group and individual level: a personalized approach seems necessary. Eur J Hum Genet 2020; 28:1187.

1044 1044. Montgomery SV, Barsevick AM, Egleston BL, et al. Preparing individuals to communicate genetic test results to their relatives: report of a randomized control trial. Fam Cancer 2013; 12:537.

1045 1045. Emery AEH, Raeburn JA, Skinner R. Prospective study of genetic counseling. BMJ 1979; 1:253.

1046 1046. Sibinga MS, Friedman CG. Complexities of parental understanding for phenylketonuria. Pediatrics 1971; 48:216.

1047 1047. Reynolds BD, Puck MH, Robinson A. Genetic counseling: an appraisal. Clin Genet 1974; 5:177.

1048 1048. American College of Medical Genetics and Genomics. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome‐scale sequencing. Genet Med 2015; 17:68.

1049 1049. Sorenson JR, Swazey JP, Scotch NA. Effective genetic counseling: more informed clients. In: Reproductive pasts, reproductive futures: genetic counseling and its effectiveness. New York: Alan R. Liss, 1981:79.

1050 1050. Swerts A. Impact of genetic counseling and prenatal diagnosis for Down syndrome and neural tube defects. Birth Defects Orig Artic Ser 1987; 23:61.

1051 1051. Kessler S. Psychological aspects of genetic counseling. VI. A critical review of the literature dealing with education and reproduction. Am J Med Genet 1989; 34: 340.

1052 1052. Davey A, Rostant K, Harrop K, et al. Evaluating genetic counseling: client expectations, psychological adjustment and satisfaction with service. J Genet Couns 2005; 14:197.

1053 1053. Milunsky A. Your genetic destiny: know your genes, secure your health, save your life. Cambridge, UK: Perseus Books, 2001.

1054 1054. Baars MJH, Scherpbier AJJA, Schuwirth LW, et al. Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genet Med 2005; 7:295.

1055 1055. Marchant G, Barnes M, Evans JP, et al. From genetics to genomics: facing the liability implications in clinical care. J Law Med Ethics 2020; 48:11.