Jewish Genetic Diseases Screening Program

In every ethnic, demographic, or racial group, there are certain inherited disorders that occur more frequently than in the general population. Such is the case for Ashkenazi Jewish individuals whose ancestors lived in Central or Eastern Europe. If you and/or your spouse are of Ashkenazi Jewish descent, you have the opportunity to be screened for nine inherited diseases that are more prevalent among Ashkenazi Jews. The Center for Jewish Genetic Diseases conducts a Jewish genetic disease screening program that provides expert screening and genetic counseling to individuals at risk for being carriers. All services are provided by board-certified genetic counselors and clinical and molecular geneticists.

What Is Genetic Screening?

Genes are the basic units of heredity passed from parent to child. They occur in pairs, and we inherit one member of each pair from our mother and the other from our father. A change in a gene, known as a mutation, can cause that gene not to work properly, which can lead to disease.

Certain diseases are caused when both genes of a pair have mutations. This type of disease is called a recessive disease. In order to have a child with a recessive disease, each parent has a gene that works properly and a gene that does not. The parents are known as carriers and do not have any health problems related to that gene. Genetic screening can identify carriers by a simple blood test to determine if a couple is at risk to have a child affected with a specific disease.

What If We Are Both Carriers?

If both partners in a couple are identified as carriers for the same disorder, they have a 25% risk with each pregnancy to have a child affected with that disease. They also have a 50% chance that the child will be a carrier, and therefore normal like the parents, and a 25% chance that the child will not inherit a non-working gene from either parent. If a couple is at risk to have a child with any of the diseases for which we screen, prenatal diagnosis is available to determine whether or not the fetus is affected. Diagnosis is possible through either chorionic villus sampling (CVS) at 10-12 weeks of pregnancy or amniocentesis in the second trimester of pregnancy. In addition, new technologies are creating other reproductive options. When a carrier couple is identified, our genetic counselors can provide information and support that may be helpful in making important family planning decisions.

Ideally, both members of a couple should be screened prior to starting a family or as soon as you learn of your pregnancy to allow all available options to be considered. You may decide to be screened for each of the nine diseases described briefly on the page titled Diseases for Which Screening Is Available, or for select diseases.