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Suggested reading

Оглавление

1 American College of Obstetricians and Gynecologists. Carrier screening for genetic conditions. Committee Opinion 691. Obstet Gynecol 2017; 129:e41–55.

2 American College of Obstetricians and Gynecologists. Family history as a risk assessment tool. Committee Opinion 478. Obstet Gynecol 2011; 117:747–50.

3 American College of Obstetricians and Gynecologists. Carrier screening in the age of genomic medicine. Committee Opinion 690. Obstet Gynecol 2017; 129:e35–40.

4 Brennan ML, Schrijver I. Cystic fibrosis: a review of associated phenotypes, use of molecular diagnostic approaches, genetic characteristics, progress, and dilemmas. J Mol Diagn 2016; 18:3–14.

5  Edwards J, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine – points to consider. A joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal‐Fetal Medicine. Obstet Gynecol 2015; 125:653–62.

6 Hoffman JD, Park JJ, Schreiber‐Agus N, et al. The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. Prenat Diagn 2014; 34:1161–7.

7 Hussein N, Weng SF, Kai J, Kleijnen J, Qureshi N. Preconception risk assessment for thalassemia, sickle cell disease, cystic fibrosis, and Tay–Sachs disease. Cochrane Database Syst Rev 2015;( 8):CD010849.

8 Kraft SA, Duenas D, Wilifond BS, Goddard KAB. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet Med 2019; 21:790–7.

9 MacDonald WK, Hamilton D, Kuhle S. SMA carrier testing: a meta‐analysis of differences in test performance by ethnic group. Prenat Diagn 2014; 34:1219–26.

10 Nolin SL, Brown WT, Glicksman A, et al. Expansion of the fragile X CGG repeat in females with permutation or intermediate alleles. Am J Hum Genet 2003; 72:454–64.

11 Vrettou C, Kakourou G, Mamas T, Traeger‐Synodinos J. Prenatal and preimplantation diagnosis of hemoglobinopathies. Int J Lab Hematol 2018; 40:74–82.

Protocols for High-Risk Pregnancies

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