Importance of expanded carrier screening in the Ashkenazi Jewish population

Compared to the general population, patients of Ashkenazi Jewish descent have an increased risk of being genetic carriers for certain diseases, with an overall carrier rate ranging from 1 in 4 to 1 in 51. Therefore, the American College of Obstetricians and Gynecologists (ACOG) strongly recommends this population be offered carrier screening for four conditions: Tay Sachs, Cystic Fibrosis, Familial Dysautonomia, and Canavan Disease2. Some experts have advocated for a more comprehensive screening panel, and subsequently, ACOG recognized that screening for the following Jewish Genetic Diseases can be offered to patients: Bloom syndrome, Familial hyperinsulinism, Fanconi anemia, Gaucher disease, Glycogen storage disease type I, Joubert syndrome, Maple syrup urine disease, Mucolipidosis type IV, Niemann-Pick disease, and Usher syndrome2.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Poster session Source Type: research