%0 Journal Article
%T Expanded carrier screening: what the reproductive endocrinologist needs to know - Fertility and Sterility
%A Jeffrey Dungan
%J Fertility and Sterility
%D 2018
%R https://doi.org/10.1016/j.fertnstert.2017.11.030
%X Expanded carrier screening refers to identification of carriers of single-gene disorders outside of traditional screening guidelines. New genetic testing technologies allow for such screening at costs that are comparable to single-gene testing. There is a high degree of variability among genetic testing laboratories as to the inclusion of different disorders, some of which have mild or unpredictable phenotypes. This review discusses the pros and cons of using expanded carrier screening in the preconceptional patient and reviews guidelines currently endorsed by professional organizations.  Discuss: You can discuss this article with its authors and other readers at https://www.fertstertdialog.com/users/16110-fertility-and-sterility/posts/24718-25092  Carrier screening is a long-established aspect of reproductive care. Preconception carrier screening refers to the process of identifying individuals/couples seeking pregnancy who would be at risk for transmitting autosomal recessive (AR) or X-linked genetic disorders to their offspring. The vast majority of such couples have no known family history of these disorders (unless consanguineous). Because most of these disorders are asymptomatic in the heterozygous carrier state, carrier individuals are not aware of their status unless this screening is performed. Prenatal carrier screening involves the same concepts but is performed in women (and the reproductive partner) after a pregnancy is established. The ideal time to assess carrier status of Mendelian disorders is before conception, so that all reproductive options can be considered (1x1American College of Obstetricians and Gynecologists. Carrier screening for genetic conditions. Committee Opinion No. 691. Obstet Gynecol. 2017; 129: e41¨Ce55 Crossref | PubMed | Scopus (23) | Google ScholarSee all References)(1). Reproductive pairs found to be at risk (25% for AR conditions) generally will have the option to pursue preimplantation genetic diagnosis (PGD) for the condition(s) in question, or can choose donor gametes (assuming the donor has been screened for the same condition). The purpose of this review is not to rehash Mendelian inheritance, for which several reference texts are available. Rather, the focus will be on clinical aspects of expanded carrier screening (ECS), which essentially means offering carrier screening of the same list of genetic conditions to all individuals, regardless of ethnic background (2x2Henneman, L., Borry, P., Chokoshvili, D., Cornel, M.C., van El, C.G., Forzano, F. et al. Responsible implementation of expanded carrier screening.
%U https://www.fertstert.org/article/S0015-0282(17)32100-3/fulltext