SOGC CLINICAL PRACTICE GUIDELINES Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent

Objective: To give recommendations to physicians and midwives providing pre-conception or prenatal care about carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. Options: To offer carrier screening for Tay-Sachs disease (TSD) only or to expand the screening to include other disorders known to occur with increased frequency in the Ashkenazi Jewish population. Outcomes: To offer carrier screening to the Ashkenazi Jewish population for conditions in which the benefits to the couple outweigh the risks, which include psychological distress from screening and diagnostic interventions; to minimize practice variation across Canada with respect to carrier screening in individuals of Ashkenazi Jewish descent. Evidence: The MEDLINE database was searched for relevant articles published from January 1966 to December 2004 related to carrier screening and genetic disorders in individuals of Ashkenazi Jewish descent. In addition, Canadian maternal-fetal medicine specialists and medical geneticists were surveyed to determine current practices and opinions. Values: The results of the survey and evidence collected from the MEDLINE search were reviewed by the Prenatal Diagnosi