There is a common misconception that a couple in which one member is not of Ashkenazi Jewish heritage need not worry about Jewish genetic diseases. On the contrary, interfaith couples should plan to have carrier screening done prior to pregnancy.
The nineteen devastating genetic diseases found more commonly in the Ashkenazi Jewish population are not confined to this population; they are found in other ethnic groups as well, although generally less frequently. This means that even a non-Ashkenazic Jew, or a non-Jew, may be a carrier of one or more of these 19 diseases.
Therefore, it is recommended that IF ONLY ONE GRANDPARENT OF THE COUPLE WAS OF ASHKENAZI BACKGROUND THE COUPLE SHOULD BE SCREENED FOR THESE DISEASES. The screening takes in the form of a simple blood test.
The following carrier screening protocol should be followed: the member of
the couple with the Ashkenazi background should be screened first. If he or she is found to be a carrier, a genetic counselor will be able to recommend the proper screening for the spouse/partner.
If both members of the couple are carriers of a mutated gene for the same genetic condition, there is a 25% chance – with each pregnancy – of having an affected child, a 50% chance that a child will be a carrier of the disease, and a 25% chance the child will be neither a carrier nor affected.
All nineteen diseases are devastating conditions. They vary in terms of carrier frequency, how they affect the body, symptoms, affect on the quality of life, age of onset, affect on lifespan and availability of treatments or therapies. Several of the diseases invariably lead to the death of a child in the first few years. All have physical manifestations. Some have treatments available for symptoms. Only one disease is treatable by an enzyme replacement therapy.