Many different genetic diseases can be passed down from parents to child, and some of these are more common among Jewish families. Even if you don’t have one of the diseases, you could be a carrier and could pass it along to your child.
A test called an Ashkenazi Jewish (AJ) genetic panel can help let you know how likely that is.
What Does This Test Check For?
About 85% of Jewish Americans have an Ashkenazi Jewish background. Their families came from Eastern or Central Europe. As many as 1 in 4 people in this group is a carrier of an AJ genetic disease.
- Bloom syndrome: People who have this are at higher risk of getting cancer. Signs of this include a short height, high-pitched voice, and skin that burns easily in the sun.
- Canavan disease: This disease of the central nervous system can cause seizures and intellectual disability.
- Cystic fibrosis: Severe problems with breathing and digestion are common symptoms.
- Fanconi anemia: This type of blood disorder raises the risk of leukemia and other cancers.
- Gaucher disease: People with it have problems with their liver and spleen, as well as anemia, bleeding problems and bone pain.
- Niemann-Pick disease (Type A): This condition interferes with how the body breaks down and uses fats and cholesterol. Symptoms like an enlarged liver and spleen appear in babies. The nervous system can be damaged, too.
- Tay-Sachs disease: This disorder harms the nervous system and can lead to seizures, loss of vision and hearing, muscle weakness, and trouble swallowing.
Screening is also available for Familial Dysautonomia, Mucolipidosis type IV, Glycogen Storage 1a and Maple syrup urine disease.
All AJ diseases are serious and can alter the life of a child. While treatments exist for some of these conditions, none have cures. In some cases, these conditions can be fatal.
Should I Be Tested?
If you, your partner, or both of you are of Ashkenazi Jewish descent, you can talk to your doctor about testing. The ideal time to do so is before you have children. This gives you time to learn the results and make any further decisions.
How Is the Genetic Panel Done?
Some tests use a sample of your blood to look for the genes that can cause these diseases. Others use your saliva. Your doctor can order this for you or you could choose to be screened through an online genetic program.
Once you submit your sample, it can take a few weeks to get your results.
What Do the Results Mean?
If your results are negative, you aren’t a carrier for any of the AJ diseases included in the test. There’s nothing else you need to do.
If both you and your partner are screened and the results show that only one of you is a carrier, your baby isn’t at risk of having one of these diseases. Still, there’s a 50% chance that your child will inherit a mutated gene. This means he could pass a disease on to his own child one day.
The test results could also show that you and your partner are both carriers of a gene that causes an AJ disease. If so, there’s a 25% chance that your child’s health will be affected.
What Should We Do If We’re Both Carriers?
There are just a few ways to ensure that you won’t pass on an AJ disease to your baby. The choices include:
- Use an egg or sperm from a donor who’s not a carrier of AJ disease.
- Adopt a child.
- Don’t have children.
Another way is called pre-implantation genetic diagnosis (PGD). A couple’s eggs are fertilized. Once the embryos start to grow, doctors inspect them for any mutated genes. Only healthy embryos are transferred back to the uterus.
Based on your test results, you may want to speak to a genetic counselor. This is someone who’s trained to help people learn about a genetic condition they have. She can talk to you about the options you have during and after pregnancy.