Ashkenazi is the name for a group of people of Jewish descent who lived in western Germany in the medieval era. In later centuries, Ashkenazi Jewish people migrated elsewhere, including Eastern Europe. Today, those with Ashkenazi Jewish heritage live around the world.
The Ashkenazi Jewish people who lived long ago in Germany carried genetic mutations that continue to remain in the population today. These mutations can result in certain genetic conditions if a person’s parents both carry the same markers.
You may want to find out whether you carry these mutations if you are of Ashkenazi Jewish descent and wish to have children. You can do this with a genetic panel.
The panel will determine whether you carry certain mutations. If you do, your partner may also want to get tested. If you both carry certain genes, a doctor or genetic counselor can advise you about any conditions that may occur in your children.
A screening will determine whether you carry the genes that can cause certain genetic conditions in your offspring. You will be screened for several genetic conditions.
The National Gaucher Foundation states that Gaucher disease is the most common genetic disease among this population, followed by:
- cystic fibrosis
- Tay-Sachs disease
- familial dysautonomia
- spinal muscular atrophy
These are just some of the conditions your screening may include.
The American College of Obstetricians and Gynecologists recommends screening for Canavan disease, cystic fibrosis, familial dysautonomia, and Tay-Sachs disease if you have Ashkenazi Jewish heritage.
Here are some of the conditions that may occur in a child if both parents carry genetic mutations found in the Ashkenazi Jewish population:
Canavan disease is an incurable degenerative neurologic disease that can impact the quality and length of life.
Cystic fibrosis is a chronic condition that causes mucus to be thick and sticky. It can damage the lungs and other organs.
Familial dysautonomia is usually present at birth and affects the autonomic nervous system. It can impact your lifespan significantly.
Tay-Sachs disease is an incurable, fatal condition that deteriorates nerve cells in the brain and spinal cord.
Gaucher disease is a treatable condition that occurs when the GBA gene mutates. It can cause various health effects depending on what type of condition you have.
These conditions include:
Spinal muscular atrophy
Spinal muscular atrophy causes changes in nerve cells that can make it difficult to control muscles.
This chromosomal condition can affect height, sensitivity to the sun, and risk for:
- respiratory illnesses
This condition causes the pancreas to overproduce insulin, creating low blood sugar.
Fanconi anemia can increase the risk for cancer, affect height and skin, and cause severe changes to bone marrow, among other symptoms.
Glycogen storage disorder
This condition damages internal organs because it builds up too much glycogen in the cells.
This condition can lead to atypical development in the brain that causes developmental delays and breathing abnormalities, among other symptoms.
Maple syrup urine disease
Maple syrup urine disease is a metabolic condition that can cause urine to smell sweet and affects infants’ ability to thrive. It requires treatment since it can be fatal.
Mucolipidosis type IV
This condition affects vision and the development of psychomotor activities. These are physical movements that require mental coordination, like throwing a ball.
Niemann-Pick disease alters how the body metabolizes lipids and can affect organs like the liver and brain, as well as bone marrow.
This condition can alter sight, hearing, and balance.
You can get an Ashkenazi Jewish genetic panel in a few ways. Your doctor may recommend a local genetic counselor to conduct the test, or you may choose to do it by mail. Screenings will test for up to 200 genetic diseases.
If you are already pregnant, you may seek prenatal genetic testing. This process begins with blood testing. If there is an atypical result, a doctor may order chorionic villus sampling and amniocentesis as further workup.
At-home screenings require you to send a saliva sample to a laboratory for testing. The administrators of these at-home screenings inform your doctor and may follow up with genetic counseling.
Your panel can indicate whether you are a carrier for certain genetic diseases but does not guarantee that you will have a child with one of these conditions. A child can only inherit these conditions if both of their parents are carriers of certain genes.
Even if both parents are carriers, it does not mean a child will develop a genetic disorder. It only indicates an increased risk that a child may have one of these genetic conditions.
Ashkenazi Jewish genetic panels are very accurate in detecting carrier genes. Screenings are 98 percent accurate for Tay Sachs and Canavan diseases and 97 percent accurate for cystic fibrosis, for example.
You should get genetic testing if you are of Ashkenazi Jewish heritage. Your partner should get it if your genetic panel indicates you have carrier genes for one or more genetic conditions.
If both you and your partner carry genes for one or more genetic conditions, you should seek advice from your doctor or a genetic counselor. They will outline risks to a potential or current pregnancy, as well as your options.
Some options include conducting a genetic test on a fertilized egg before it is implanted in the uterus or using donor sperm or eggs in a pregnancy.
Those with Ashkenazi Jewish ancestry may have a 1 in 4 to 1 in 5 chance of having carrier genes for at least one genetic disease. This is because the Ashkenazi Jewish population in medieval Germany had certain genetic mutations that have carried forward today.
You may carry certain genetic mutations if you are of Ashkenazi Jewish descent. If you plan to have children, you may want to get an Ashkenazi Jewish genetic panel to test for certain genes that may cause genetic conditions in your children.
If you carry one or more of them, your partner may also want to get a genetic panel. If you both carry the same mutations, your offspring may be at risk for certain genetic conditions. A doctor or genetic counselor can provide reproductive counseling if you are both positive for certain genes.