Ashkenazi Jewish Carrier Screening
What is Ashkenazi Jewish Carrier Screening?
Ashkenazi Jewish (AJ) carrier screening helps to identify 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 at least one of the genetic disorders that are more common the AJ population.
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 of having 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. All panels include testing for the disorders recommended by ACOG and ACMG. An individual may also choose to be screened for specific diseases through the á la carte option.
Who Should Have Ashkenazi Jewish Carrier Screening?
ACMG and ACOG recommend that AJ carrier testing be offered 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 by chorionic villi sampling or amniocentesis can be performed to determine whether or not a fetus is affected.