ASHKENAZI JEWISH DISEASE

FAMILY HISTORY

How are genetic diseases passed from generation to the next?

Genetic disorders are caused by mutations in genes. Every person has two copies of a gene, one inherited from each parent. To have one of the diseases described here, an individual must have two copies of the abnormal gene. These are called “autosomal recessive” genetic diseases.

What is a carrier?

A carrier is a person who has one normal copy of a gene and one abnormal copy. Having one normal gene is enough to prevent the disease. However, if both parents are carriers of the same abnormal gene, there is a chance that each parent will pass his or her abnormal gene to their baby. If the baby inherits two copies of the abnormal gene, the baby will have the disease. Couples may decide to have carrier testing to find out if they are carriers, and therefore are at risk of having a baby with one of these genetic disease.

What if only one partner in a couple is Jewish?

If only one partner is Jewish, it is usual to test that person first. If he or she is found to be a carrier of one of these diseases, the non Jewish partner could then be tested. However, if a pregnancy is already underway, it may be better to test both partners at the same time. Carrier detection rates in the non-Jewish population are lower.

Are there prenatal test for these diseases?

Yes, if both parents are carriers of the same disease gene, prenatal diagnosis can be performed to determine whether or not the fetus is affected.