Ashkenazi Jewish Carrier Screening

What is Ashkenazi Jewish Carrier Screening?

Ashkenazi Jewish (AJ) carrier screening helps to identify carriers of inherited genetic conditions that occur frequently in individuals with Eastern European (Ashkenazi) Jewish ancestry. According to the American College of Medical Genetics (ACMG), one in four individuals of Ashkenazi Jewish descent is a carrier of a genetic disorder.

How are Ashkenazi Jewish Genetic Conditions Inherited?

All of the diseases included in the Ashkenazi Jewish panel are inherited in an autosomal recessive manner. Both parents must be carriers of the same condition in order to have a child with one of the diseases. Carriers are not themselves affected by the disease, but have a chance of having a child with the disease. If one parent is found to be a carrier, screening is recommended for their partner. If the partner screens negative, then the couple’s risk to have an affected child is reduced (but not eliminated). If both parents are carriers of an AJ disease, there is a 25% chance in each pregnancy of having a child with the disease, a 50% chance of having a child who is an unaffected carrier of the condition, and a 25% chance of having a child who is not a carrier and is unaffected.

Ashkenazi Jewish Carrier Screening Panel Options

There are multiple options for individuals or couples where one or both partners are of Ashkenazi Jewish ancestry, including panel options screening for 18 (AJ-18), 25 (AJ-25), or 47 (AJ- Expanded) disorders. Your provider or genetic counselor can help you decide which AJ carrier screening panel is right for you.

See comprehensive information on all heritable AJ diseases, including carrier frequencies.

Who Should Have Ashkenazi Jewish Carrier Screening?

AJ carrier testing is recommended prior to conception or early in pregnancy if one or both members of a couple have Ashkenazi Jewish ancestry.

Is There Prenatal Diagnosis for Ashkenazi Jewish Genetic Conditions?

Yes. If both biological parents are found to be carriers of the same Ashkenazi Jewish genetic condition, prenatal testing can be performed to determine whether or not a fetus is affected.