Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze

作者: Jose Carlos P. Ferreira , Nicole Schreiber-Agus , Suzanne M. Carter , Susan Klugman , Anthony R. Gregg

DOI: 10.1016/J.AJOG.2014.02.001

关键词:

摘要: Exciting developments in the fields of genetics and genomics have facilitated identification etiological basis many Mendelian disorders. Several methods used gene discovery focused initially on homogeneous populations, including Ashkenazi Jewish population. The founder effect is well recognized this community, which historical events cultural behaviors resulted a limited number mutations underlying genetic disorders with substantial health impact. New technologies made it possible to rapidly expand test panels, changing testing paradigms, thereby creating challenges for physician deciphering appropriate approach screening goal review help primary obstetric care providers navigate through quickly moving field so as better counsel support their patients heritage.

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