Читать книгу Genetic Disorders and the Fetus - Группа авторов - Страница 87

References

Оглавление

1 1. Zegers‐Hochschild F, David Adamson G, Dyer S, et al. The international glossary on infertility and fertility care. Fertil Steril 2017; 108(3):393.

2 2. Verlinsky Y, Kuliev AM. Preimplantation genetics. New York: Plenum Press, 1991.

3 3. Verlinsky Y, Kuliev AM. Preimplantation diagnosis of genetic diseases: a new technique for assisted reproduction. New York: Wiley‐Liss, 1993.

4 4. Verlinsky Y, Kuliev AMA. Atlas of preimplantation genetic diagnosis, New York: Parthenon, 2000.

5 5. Verlinsky Y, Rechitsky S, Schoolcraft W, et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 2001; 285:3130.

6 6. Rechitsky S, Verlinsky O, Chistokhina A, et al. Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online 2002; 5:148.

7 7. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for early onset Alzheimer disease caused by V717L mutation. JAMA 2002; 287:1038.

8 8. Kuliev AM, Modell B. Ethical issues in the control of genetic diseases. In: Verlinsky Y, Kuliev AM, eds. Preimplantation genetics. New York: Plenum Press, 1991:233.

9 9. World Health Organization. Perspectives of fetal diagnosis of congenital diseases. WHO unpublished document HMG/Serono/84.4. Geneva: World Health Organization, 1984.

10 10. Kuliev A, Modell B, Galjaard H. Perspectives in fetal diagnosis of congenital disorders. Arns Serono Symposia, Rome, 1985.

11 11. McLaren A. Prenatal diagnosis before implantation: opportunities and problems. Prenat Diagn 1985; 5:85.

12 12. Saiki R, Scharf S, Faloona F, et al. Enzymatic amplification of beta‐globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985; 230:1350.

13 13. Leonard M, Kirszenbaum M, Cotinot C, et al. Sexing bovine embryos using a Y chromosome specific probe. Theriogenology 1987; 27:248.

14 14. Monk M, Handyside AH. Sexing of preimplantation mouse embryos by measurement of X‐linked gene dosage in single blastomere. J Reprod Fertil 1988; 82:365.

15 15. Monk M, Muggleton‐Harris AL, Rawling E, et al. Preimplantation diagnosis of HPRT‐deficient male mice and carrier female mouse embryo by trophectoderm biopsy. Hum Reprod 1988; 3:377.

16 16. Summers PM, Campbell JM, Miller MW. Normal in‐vivo development of marmoset monkey embryos after trophectoderm biopsy. Hum Reprod 1988; 3: 389.

17 17. Gordon JW, Gang I. Use of zona drilling for safe and effective biopsy of murine oocytes and embryos. Biol Reprod 1990; 42:869.

18 18. Handyside AH, Pattison JK, Penketh RJA, et al. Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1989; 1:347.

19 19. Handyside AH, Kontogiani EH, Hardy K, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y‐specific DNA amplification. Nature 1990; 344:768.

20 20. Verlinsky Y, Ginsberg N, Lifchez A, et al. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod 1990; 5:826.

21 21. Verlinsky Y, Cohen J, Munne S, et al. Over a decade of preimplantation genetic diagnosis experience – a multicenter report. Fertil Steril 2004; 82:292.

22 22. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium. Data collection X. Hum Reprod 2010; 25:2685.

23 23. Liebaers I, Desmyttere S, Verpoest W, et al. Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis. Hum Reprod 2010; 25:275.

24 24. Preimplantation Genetic Diagnosis International Society (PGDIS). 12th International Conference on Preimplantation Genetic Diagnosis. Reprod BioMed Online 2013;26:Suppl 1.

25 25. Kuliev A. Practical preimplantation genetic diagnosis. New York, London, Heidelberg: Springer, 2013.

26 26. Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: program requirements and laboratory quality assurance. 2008. Reprod BioMed Online 2008; 16:134.

27 27. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium. Best practice guidelines for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod 2011; 26:14.

28 28. Kuliev A, Rechitsky S, Verlinsky O, et al. Preembryonic diagnosis for sickle cell disease. Mol Cell Endocrinol 2001; 183:S19.

29 29. Lacham‐Kaplan O, Daniels R, Trouson A. Fertilization of mouse oocytes using somatic cells as male germ cells. Reprod Biomed Online 2001; 3:205.

30 30. Tesarik J, Mendoza C. Somatic cell haploidization: an update. Reprod BioMed Online 2003; 6:60.

31 31. Willadsen S, Munne S, Schmmel T, et al. Applicationsof nuclear sperm duplication. Fifth International Symposium on Preimplantation Genetics, 5–7 June, Antalya, Turkey 2003:35.

32 32. Kuznyetsov V, Kuznyetsova I, Chmura M, et al. Duplication of sperm genome by human androgenetic embryo production for possible testing of paternal genome prior to fertilization. Reprod BioMed Online 2007; 14:504.

33 33. Modlinsky J, McLaren A. A method for visualizing the chromosomes of the second polar body of the mouse egg. J Embryol Exp Morphol 1980; 60:97.

34 34. Monk M, Holding C. Amplification of beta‐haemoglobin sequence in individual human oocytes and polar bodies. Lancet 1990; 335:985.

35 35. Kuliev A, Rechitsky S. Polar body‐based preimplantation genetic diagnosis for Mendelian disorders. Mol Hum Reprod 2011; 17:275.

36 36. Kaplan B, Wolf G, Kovalinskaya L, et al. Viability of embryos following second polar body removal in a mouse model. Assist Reprod Genet 1995; 12:747.

37 37. Hardy K, Handyside AH, Winston RML. The human blastocyst: cell number, death and allocation during late preimplantation development in vitro. Development 1989; 107:597.

38 38. Gardner RL, Edwards RG. Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature 1968; 218:346.

39 39. Dokras A, Sargent IK, Ross C, et al. Trophectoderm biopsy in human blastocyst. Hum Reprod 1990; 5:821.

40 40. Dokras A, Sargent IK, Ross C, et al. The human blastocyst: morphology and human chorionic gonadotrophin secretion in vitro. Hum Reprod 1991; 6:1143.

41 41. Muggleton‐Harris AL, Glazier AM, Pickering S, et al. Genetic diagnosis using PCR and FISH analysis of biopsied cells from both the cleavage and blastocyst stages of individual cultured human preimplantation embryos. Hum Reprod 1995; 10:183.

42 42. Verlinsky Y, Munne S, Simpson JL, et al. Current status of preimplantation diagnosis. J Assist Reprod Genet 1997; 1:72.

43 43. Dawson KJ, Rutherford AJ, Winston NJ, et al. Human blastocyst transfer: is it a feasible proposition? Hum Reprod 1988; 145:44.

44 44. McArthur SJ, Leigh D, Marshall JT, et al. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 2005; 84:1628.

45 45. De Boer KA, Catt JW, Jansen RPS, et al. Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF. Fertil Steril 2004; 2:295.

46 46. PGDIS. Eighth International Symposium on Preimplantation Genetic Diagnosis. Reprod BioMed Online 2008; 16:60.

47 47. Scott R, Upham KM, Forman EJ, et al. Cleavage‐stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril 2013; 10:624.

48 48. Kuliev A, Rechitsky S, Simpson JL. Practical preimplantation genetic testing. New York: Springer, 2020.

49 49. Gianaroli L, Magli MC, Pomante A, et al. Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study. Fertil Steril 2014; 102:1692.

50 50. Magli C, Andor C, Tabanelli C, et al. Deoxyribonucleic acid detection in blastocoelic fluid: a new predictor of embryo ploidy and viable pregnancy. Fertil Steril 2019; 111:77.

51 51. Shamonki MI, Jin H, Haimowitz Z, Liu L. Proof of concept: preimplantation genetic screening without embryo biopsy through analysis of cell‐free DNA in spent embryo culture media. Fertil Steril 2016; 106:1312.

52 52. Xu J, Fang R, Chen L, et al. Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization. Proc Natl Acad Sci U S A 2016; 113:11907.

53 53. Hammond ER, McGillivray BC, Wicker SM, et al. Characterizing nuclear and mitochondrial DA in spent embryo culture media: genetic contamination identified. Fertil Steril 2017; 107:220.

54 54. Liu W, Liu J, Du H, et al. Non‐invasive pre‐implantation aneuploidy screening and diagnosis of beta thalassemia IVSII654 mutation using spent embryo culture medium. Ann Med 2017; 49(4):319.

55 55. Katz‐Jaffe M, McCallie B, McReynolds S, et al. Analysis of the embryonic media drop as a non‐invasive alternative to blastocyst biopsy in preimplantation genetic testing for aneuploidy. Fertil Steril 2018; 110(4):Suppl e419.

56 56. Capablo A, Romanelli V, Patassini C, et al, Diagnostic accuracy of blastocoelic fluid and spent media as source of DNA for preimplantation genetic testing in standard clinical conditions. Fertil Steril 2018; 110:870.

57 57. Ho JR, Arrach N, Rhodes K, et al. Pushing the limits of detection: investigation of cell‐free DNA for aneuploidy screening in embryos. Fertil Steril 2018; 110:467.

58 58. Rubio C. Non‐Invasive PGT‐A with the analysis of embryonic cell free DNA in spent blastocyst media. PGDIS 2019, Reprod Biomed Online 2019;39:E12.

59 59. Verlinsky Y, Kuliev A. Atlas of preimplantation genetic diagnosis. London: Taylor and Francis, 2005: 288.

60 60. Rechitsky S, Strom C, Verlinsky O, et al. Allele drop out in polar bodies and blastomeres. J Assist Reprod Genet 1998; 15:253.

61 61. Simpson JL, Rechitsky S, Kuliev A. Next generation sequencing for preimplantation genetic diagnosis. Fertil Steril 2013; 99:1203.

62 62. Renwick P, Trussler J, Braude P, et al. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod BioMed Online 2010; 20:470.

63 63. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation genetic diagnosis for polycystic kidney disease. Fertil Steril 2004; 82:926.

64 64. Verlinsky Y, Kuliev A. Practical preimplantation genetic diagnosis. Berlin: Springer, 2006: 204.

65 65. Handyside AH, Thornhill AR, Harton GL, et al. Karyomapping: a novel molecular karyotyping method based on mapping crossovers between parental haplotypes with broad applications for preimplantation genetic diagnosis of inherited disease. J Med Genet 2010; 47:651.

66 66. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Polar body based preimplantation diagnosis for X‐linked genetic disorders. Reprod BioMed Online 2002; 4:38.

67 67. Kuliev A, Rechitsky S, Laziuk K, et al. Pre‐embryonic diagnosis for Sandhoff disease. Reprod BioMed Online 2006; 12:328.

68 68. Verlinsky Y, Milayeva S, Evsikov S, et al. Preconception and preimplantation diagnosis for cystic fibrosis. Prenat Diagn 1992; 12:103.

69 69. Munne S, Morrison L, Fung J, et al. Spontaneous abortions are reduced after preconception diagnosis of translocations. J Assist Reprod Genet 1998; 15:290.

70 70. Montag M, van der Ven K, Dorn C, et al. Outcome of laser‐assisted polar body biopsy and aneuploidy testing. Reprod Bio Med Online 2004; 9:425.

71 71. Magli C, Ferraretti A, Crippa A, et al. First meiosis errors in immature oocytes generated by stimulated cycles. Fertil Steril 2006; 86:629.

72 72. Amato P, Tashibana M, Sparman M, et al. Three‐patient in vitro fertilization: gene replacement for the prevention of inherited mitochondrial diseases. Fert Steril 2014; 101:31.

73 73. Rechitsky S, Pomerantseva K, Pakhalchuk T, et al. First systematic experience of preimplantation genetic diagnosis for de novo mutations. Reprod BioMed Online 2011; 22:350.

74 74. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for p53 tumor suppressor gene mutations. Reprod Bio Med Online 2001; 2:102.

75 75. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly. N Engl J Med 2003; 348:1449.

76 76. Verlinsky Y, Rechitsky S, Schoolcraft, et al. Preimplantation diagnosis for homeobox gene HLXB9 mutation causing Currarino syndrome. Am J Med Genet 2005; 134A:103.

77 77. He J, McDermont DA, Song Y, et al. Preimplantation genetic diagnosis of human congenital heart disease and Holt–Oram syndrome. Am J Med Genet 2003; 126A:93.

78 78. Kuliev A, Pomerantseva E, Polling D, et al. PGD for inherited cardiac diseases. Reprod Bio Med Online 2012; 24:443

79 79. Verlinsky Y, Rechitsky S, Sharapova T, et al. Preimplantation HLA typing. JAMA 2004; 291:2079.

80 80. Edwards RG. Ethics of PGD: thoughts on the consequences of typing HLA in embryos. Reprod Bio Med Online 2004 9:222.

81 81. Rechitsky S, Kuliev A, Tur‐Kaspa I, et al. Preimplantation HLA typing with preimplantation genetic diagnosis. Reprod Bio Med Online 2004; 6:488.

82 82. vande Velde H, Georgiou I, de Rycke M, et al. Novel universal approach for preimplantation genetic diagnosis of β‐thalassemia in combination with HLA matching of embryos. Hum Reprod 2004; 19:700.

83 83. Kahraman S, Karlilaya G, Sertyel S, et al. Clinical aspects of preimplantation genetic diagnosis of single gene disorders combined with HLA typing. Reprod BioMed Online 2004; 9:529.

84 84. Kuliev A, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis and HLA typing for hemoglobin disorders. Reprod BioMed Online 2005; 11:362.

85 85. Rechitsky S, Kuliev A, Sharapova T, et al. Preimplantation HLA typing with aneuploidy testing. Reprod BioMed Online 2006; 12:81.

86 86. Kuliev A, Rechitsky S, Tur‐Kaspa I, et al. Preimplantation genetics: improving access to stem cell therapy. Ann NY Acad Sci 2005; 1054:223.

87 87. Chen SU, Su YN, Fang MY, et al. PGD of beta‐thalassaemia and HLA haplotypes using OmniPlex whole genome amplification. Reprod Biomed Online 2008; 17:699.

88 88. Verlinsky Y, Rechitsky S, Sharapova T, et al. Preimplantation diagnosis for immunodeficiencies. Reprod Biomed Online 2007; 14:214–223.

89 89. Reichenbach J, van de Velde H, de Rycke M, et al. First successful bone marrow transplantation for X‐linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching. Pediatrics 2008; 122:e778.

90 90. Goussetis E, Kokkali G, Petrakou E, et al. Successful hematopoietic stem cell transplantation in 2 children with X‐linked chronic granulomatous disease from their unaffected HLA‐identical siblings selected using preimplantation genetic diagnosis combined with HLA typing. Biol Blood Marrow Transplant 2010; 16:344.

91 91. Kuliev A, Packalchuk T, Verlinsky O, et al. Preimplantation diagnosis: efficient tool for human leukocyte antigen matched bone marrow transplantation for thalassemia. Thalassemia Rep 2011; 1:e1.

92 92. Kuliev A, Rechitsky S, Verlinsky O. Atlas of preimplantation genetic diagnosis, 3rd edn. London: CRS Press, Taylor and Francis, 2014.

93 93. Kahraman S, Beyazyurek C, Ekmeksi C, et al. Seven year experience of preimplantation HLA typing: a clinical experience of 327 cycles. Reprod Biomed Online 2011; 23:363.

94 94. Umay KB, Gavaz M, Kumtepe ÇY, et al. Successful hemapoietic stem cell transplantation in 62 children from healthy siblings conceived from preimplantation HLA Matching: a clinical experience of 327 cycles. Reprod Biomed Online 2019; 39(Suppl 1):e13.

95 95. Plachot M. Chromosomal abnormalities in oocytes. Mol Cell Endocrinol 2001; 183:S59.

96 96. Martin RH, Spriggs E, Rademaker AW. Multicolour fluorescence in situ hybridization analysis of aneuploidy and diploidy frequencies in 225,846 sperm from ten normal men. Biol Reprod 1996; 54:394.

97 97. Gropp A. Chromosomal animal model of human disease: fetal trisomy and development failure. In: Berry L, Poswillo DE, eds. Teratology. Berlin: Springer‐Verlag, 1975:17.

98 98. Epstein CJ. Mouse monosomies and trisomies as experimental systems for studying mammalian aneuploidy. Trends Genet 1985; 1:129.

99 99. Dyban A, De Sutter P, Verlinsky Y. Preimplantation cytogenetic analysis. In: Verlinsky Y, Kuliev AM, eds. Preimplantation diagnosis of genetic diseases: a new technique in assisted reproduction. New York: Wiley‐Liss, 1993:93.

100 100. De Sutter P, Dozortsev D, Cieslak J, et al. Parthenogenetic activation of human oocytes by puromycin. J Assist Reprod Genet 1992; 9:328.

101 101. Dyban AP, de Sutter P, Dozortsev D, et al. Visualization of second polar body chromosomes in fertilized and artificially activated mouse oocytes treated with okadaic acid. J Assist Reprod Genet 1992; 9:572.

102 102. Verlinsky Y, Dozortsev D, Evsikov S. Visualization and cytogenetic analysis of second polar body chromosomes following its fusion with one‐cell mouse embryo. J Assist Reprod Genet 1994; 11:123.

103 103. Antonarakis SE, Petersen MB, McInnis MG, et al. The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet 1992; 50:544.

104 104. Rodman TC. Chromosomes of the first polar body in mammalian meiosis. Exp Cell Res 1971; 68:205.

105 105. Dyban A, de Sutter P, Verlinsky Y. Okadaic acid induces premature chromosome condensation reflecting the cell cycle progression in one cell stage mouse embryos. Mol Reprod Dev 1993; 34:403.

106 106. Tanaka A, Nagayoshi M, Awata S, et al. Preimplantation diagnosis of repeated miscarriage due to chromosomal translocations using metaphase chromosomes of a blastomere biopsied from 4–6 cell stage embryo. Fertil Steril 2004; 81:30.

107 107. Dyban A, Fredine M, Severova E, et al. Detection of aneuploidy in human oocytes and corresponding first polar bodies by FISH. J Assist Reprod Genet 1995; 13:72.

108 108. Munné S, Dailey T, Sultan KM, et al. The use of first polar bodies for preimplantation diagnosis of aneuploidy. Hum Reprod 1995; 10:1014.

109 109. Verlinsky Y, Cieslak J, Freidine M, et al. Polar body diagnosis of common aneuploidies by FISH. J Assist Reprod Genet 1996; 13:157.

110 110. Verlinsky Y, Cieslak J, Ivakhnenko V, et al. Birth of healthy children following preimplantation diagnosis of common aneuploidies by polar FISH analysis. Fertil Steril 1996; 66:126.

111 111. Kuliev A, Cieslak J, Illkewitch Y, et al. Chromosomal abnormalities in a series of 6733 human oocytes in preimplantation diagnosis of age‐related aneuploidies. Reprod Biomed Online 2003 6:54.

112 112. Kuliev A, Cieslak J, Verlinsky Y. Frequency and distribution of chromosomal abnormalities in human oocytes. Cytogenet Genome Res 2005; 111:193.

113 113. Kuliev A, Zlatopolsky Z, Kirillova I, et al. Meiosis errors in over 20,000 oocytes studied in the practice of preimplantation aneuploidy testing. Reprod BioMed Online 2011; 22:2.

114 114. Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online 2002; 4:183.

115 115. Gianaroli L, Magli MC, Ferraretti AP. The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy. Mol Cell Endocrinol 2001; 183:S13.

116 116. Munné S, Chen S, Colls P, et al. Maternal age, morphology, development and chromosome abnormalities in over 6000 cleavage stage embryos. Reprod BioMed Online 2007; 14:628.

117 117. Colls P, Escudero T, Cekleniak N, Sadowy S, Cohen J, Munne S. Increased efficiency of preimplantation genetic diagnosis for aneuploidy by testing 12 chromosomes. Reprod Biomed Online 2009; 19:532.

118 118. Uher P, Baborova P, Kralickova M, et al. Non‐informative results and monosomies in PGD: the importance of a third round of re‐hybridization. Reprod Biomed Online 2009; 18:530.

119 119. Fragouli E, Alfarawati S, Spath K, The origin and impact of embryonic aneuploidy. Hum Genet 2013; 132:1001.

120 120. Munné S, Sandalinas M, Escudero T, et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod BioMed Online 2003; 7:91.

121 121. Munné S, Fisher J, Warner A, et al. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: a multi‐center study. Fertil Steril 2006; 85:326.

122 122. Staessen C, Platteau P, van Assche E, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod 2004; 19:2849.

123 123. Platteau P, Staessen C, Michiels A, et al. Preimplantation genetic diagnosis for aneuploidy in patients with unexplained recurrent miscarriages. Fertil Steril 2005; 83:393.

124 124. Mastenbroek S, Twisk M, van Echten‐Arends J, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007; 357:9.

125 125. Cohen J, Wells D, Munné S. Removal of two cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests employed to enhance implantation rates. Fertil Steril 2007; 87:496.

126 126. Munné S, Cohen J, Simpson JL. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007; 357:1769.

127 127. Cohen J, Grifo J. Multicentre trial of preimplantation genetic screening reported in the New England Journal of Medicine: an in‐depth look at the findings. Reprod Biomed Online 2008; 15:365.

128 128. Practice Committee of the Society for Assisted Reproductive Technology and Practice Committee of the American Society for Reproductive Medicine. Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril 2007; 88:1497.

129 129. Lathi RB, Westphal LM, Milki AA. Aneuploidy in the miscarriages of infertile women and the potential benefit of preimplantation genetic diagnosis. Fertil Steril 2008; 89:353.

130 130. Gianaroli L, Magli MC, Ferraretti A. The beneficial effects of PGD for aneuploidy support extensive clinical application. Reprod BioMed Online 2004; 10:633.

131 131. Verlinsky Y, Tur‐Kaspa I, Cieslak J, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor‐prognosis IVF patients. Reprod BioMed Online 2005; 11:219.

132 132. Magli MC, Jones GM, Gras L, et al. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 2000; 15:1781.

133 133. Sandalinas M, Sadowy S, Alikani M, et al. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod 2001; 16:1954.

134 134. Ankum WM, Reitsma JB, Offringa M. IVF with preimplantation genetic screening, a promising new treatment with unexpectedly negative health outcomes: the Hippocratic role of Data Monitoring Committees. Hum Reprod 2008; 23:1.

135 135. Twisk M, Mastenbroek S, Hoek A. No beneficial effect of preimplantation genetic screening in women of advanced maternal age with a high risk for embryonic aneuploidy. Hum Reprod 2008; 23:2813.

136 136. Yakin K, Urman B. What next for preimplantation genetic screening? A clinician's perspective. Hum Reprod 2008; 23:1686.

137 137. Gleicher N, Kushnir V, Barad D. Preimplantation genetic screening: still in search of a clinical application: a systematic review. Reprod Biol Endocrin 2014; 12:22.

138 138. Yang Z, Liu J, Collinz GS, et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet 2012; 5:24.

139 139. Scott RT, Tao X, Ferry KM, Treff NR. A prospective randomized controlled trial demonstrating significantly increased clinical pregnancy rates following 24 chromosome aneuploidy screening: biopsy and analysis on day 5 with fresh transfer. Fertil Steril 2010; 94(Suppl):S2.

140 140. Forman EJ, Tao X, Ferry KM, et al. Single embryo transfer with comprehensive chromosome screening results in improved ongoing pregnancy rates and decreased miscarriage rates. Hum Reprod 2012; 27:1217.

141 141. Rubio C, Bellver J, Rodrigo L, et al. In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study. Fertil Steril 2017; 107:1122.

142 142. Society for Assisted Reproductive Technology. SART national summary report: Final CSR for 2016. https://www.sartcorsonline.com/rpt SR_PublicMultYear.aspx? (accessed May 6, 2019).

143 143. Munné S, Kaplan B, Frattarelli JL, et al.; STAR Study Group. Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen‐thawed embryo transfer in good‐prognosis patients: a multicenter randomized clinical trial. Fertil Steril 2019; 112(6):1071.

144 144. Schoolcraft WB, Fragouli E, Stevens J, et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril 2010; 94:1700.

145 145. Fragouli E, Alfarawati S, Daphnis DD, et al. Cytogenetic analysis of human blastocyst with the use of FISH, CGH, and a CGH: scientific data and technical evaluation. Hum Reprod 2011; 26:480.

146 146. Schoolcraft WB, Treff NR, Stevens JM, et al. Live birth outcome with tro‐phectoderm biopsy, blastocyst vitrification, and single‐nucleotide polymorphism microarray‐based comprehensive chromosome screening in infertile patients. Fertil Steril 2011; 96:638.

147 147. Geraedts J, Montag M, Magli C, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum Reprod 2011; 26:3172.

148 148. Magli C, Montag M, Koster M, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspects. Hum Reprod 2011; 26(11):3181.

149 149. Gabriel AS, Thornhill AR, Ottolini CS, et al. Array comparative genomic hybridization on first polar bodies suggests that non‐disjunction is not the predominant mechanism leading to aneuploidy in humans. J Med Genet 2011; 48:433.

150 150. Brezina PR, Benner A, Rechitsky S, et al. Single‐gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil Steril 2011; 95:1786.

151 151. Treff NR, Northrop LE, Kasabwala K, et al. Single nucleotide polymorphism microarray‐based concurrent screening of 24‐chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril 2011; 95:1606.

152 152. Scott RT Jr. Ferry K, Su J, et al. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril 2012; 97:870.

153 153. Colls P, Escudero T, Fleicher J, et al. Validation of array comparative genome hybridization for diagnosis of translocations in preimplantation human embryos. Reprod BioMed Online 2012; 24:621.

154 154. Munne S. PGD for aneuploidy and translocations using array comparative genome hybridization. Curr Genomics 2012; 13:463.

155 155. Rubio C, Rodrigo L, Mir P, et al. Use of array comparative genomic hybridization (array‐CGH) for embryo assessment: clinical results. Fertil Steril 2013; 99:1044.

156 156. Harton GL, Munné S, Surrey M, et al. Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril 2013; 100:1695.

157 157. Rechitsky S, Verlinsky O, Kuliev A. PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24‐chromsome aneuploidy testing. Reprod BioMed Online 2013; 26: 420.

158 158. Treff N, Scott RT. Four‐hour quantitative real‐time polymerase chain reaction‐based comprehensive chromosome screening and accumulating evidence of accuracy, safety, predictive value, and clinical efficiency. Fertil Steril 2013; 99:1049.

159 159. Treff N, Fedic A, Xin T, et al. Evaluation of targeted next‐generation sequencing‐based preimplantation genetic diagnosis of monogenic disorders. Fertil Steril 2013; 99:1377.

160 160. Martin J, Cervero A, Mir P, et al. The impact of next generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril 2013; 99:1054.

161 161. Yin X, Tan K, Vajta G, et al. Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts. Biol Reprod 2013; 88:1.

162 162. Wells D, Kaur K, Grifo J, et al. A novel embryo screening provides new insights into embryo biology and yields the first pregnancies following genome sequencing. Hum Reprod 2013; 28(Suppl 1):i25.

163 163. Fiorentino F, Biricik A, Bono S, et al. Development and validation of a next‐generation sequencing‐based protocol for 24‐chromosome aneuploidy screening of embryos. Fertil Steril 2014; 101(5):1375.

164 164. PGDIS Position statement on chromosome mosaicism and preimplantation aneuploidy testing at the blastocyst stage, 2016. PGDIS Newsletter, July 19, 2016 (www.pgdis.org).

165 165. PGDIS Position statement on transfer of mosaic embryos in preimplantation genetic testing for aneuploidy. Reprod Biomed Online 2019; 39:e1.

166 166. Treff NR, Tao X, Schileings W, et al. Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril 2011; 96:e58.

167 167. Treff NR, Thompson K, Rafizadeh M, et al. SNP array‐based analysis of unbalanced embryos as a reference to distinguish between balanced translocation carriers and normal blastocysts. J Assist Reprod Genet 2016; 38:1115.

168 168. Kuliev A, Zlatopolsky Z, Wang L, et al. Evolution of PGD for translocations. Abstracts of 15th International Conference on Preimplantation Genetics, Bologna, Italy, 2016.

169 169. Chow JFC, Cheng HH, Lau EYL, et al. Selective transfer of euploid non‐carrier embryos with the use of long‐read sequencing in preimplantation genetic testing for reciprocal translocation. Reprod Biomed Online 2019; 39(Suppl 1):e14.

170 170. Ethics Committee of the American Fertility Society. Ethics and the new reproductive technologies. Fertil Steril 1990; 53:5.

171 171. Walters L. Ethics and new reproductive technologies: an international review of committee statements. Hastings Cent Rep 1987; 17(3).

172 172. Milunsky A. Ethical and selected medical aspects of preimplantation genetic diagnosis. In: Verlinsky Y, Kuliev AM, eds. Preimplantation genetics. New York: Plenum Press, 1991:245.

173 173. Cohen J, Hotz RL. Human embryo research: ethics and recent progress. Curr Opin Obstet Gynecol 1991; 3:678.

174 174. Burn J, Strachan T. Human embryo use in developmental research. Nat Genet 1995; 11:3.

175 175. Verlinsky Y, Handyside AH, Simpson JL. Current progress in preimplantation genetic diagnosis. J Assist Reprod Genet 1993; 10:353.

176 176. Schreiber HL. The legal situation regarding assisted reproduction in Germany. Reprod Biomed Online 2003; 6:8.

177 177. Feichtinger W. Preimplantation diagnosis – a European clinician's point of view. J Assist Reprod Genet 2004; 21:15.

178 178. Benagiano P, Gianaroli L. The new Italian IVF legislation. Reprod Biomed Online 2004; 9:117.

179 179. Peinado JA, Russell SE. The Spanish law governing assisted reproduction techniques: a summary. Hum Reprod 1990; 5:634.

180 180. Robertson J. Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. Hum Reprod 2003; 18:465.

181 181. Marshal E. Embryologists dismayed by sanctions against geneticist. Science 1997; 275:472.

182 182. Gali RP, Woodside JL. Proposed Canadian legislation to regulate reproductive technologies and related research. Reprod Biomed Online 2003; 6:114.

183 183. Society of Obstetricians and Gynaecologists of Canada, Okun N, Sierra S. Pregnancy outcomes after assisted human reproduction. J Obstet Gynaecol Can 2014; 36:64.

184 184. Kilani Z, Haj Hassan L. Sex selection and preimplantation genetic diagnosis at the Farah Hospital. Reprod Biomed Online 2002; 4:8.

185 185. Malpani A, Malpani A, Modi D. The use of preimplantation genetic diagnosis in sex selection for family balancing in India. Reprod Biomed Online 2001; 4:16.

186 186. Ethics Committee of the American Society for Reproductive Medicine. Use of preimplantation genetic diagnosis for serious adult onset conditions: a committee opinion. Fertil Steril 2013; 100:54.

187 187. Edwards RG, Angastiniotis M, Antinoty S, et al. Ethics of preimplantation diagnosis: record from the Fourth International Symposiumon Preimplantation Genetics. Reprod Biomed 2003; 6:170.

188 188. Towner D, Loewy RS. Ethics of preimplantation diagnosis for a woman destined to develop early‐onset Alzheimer disease. JAMA 2002; 287:1038.

189 189. Damewood MD. Ethical implications of a new application of preimplantation diagnosis. JAMA 2001; 285:3143.

Genetic Disorders and the Fetus

Подняться наверх