Prenatal genetic screening in the Ashkenazi Jewish population

In the Ashkenazi Jewish population there are at least nine severely debilit ating autosomal recessive disorders that can be prevented by carrier screen ing and genetic counseling. There are common mutations that permit carrier identification with greater than 95% delectability. Simultaneous screening of both partners is recommended to avoid the anxiety associated with sequen tial screening when the first tested partner is found to be a carrier. Pret est and post-test genetic counseling should be provided, and screening of c ouples where only one member is Jewish is recommended. Experience with mult iplex carrier screening in the Ashkenazi Jewish population has proved effec tive and provides a prototype for future mass carrier screening for genetic diseases in the general population.