If you’re an expectant parent, or planning a pregnancy, you probably want to know all you can about your future family. Genetic carrier screening allows for a closer look at your genes, to see if there is a chance your baby could inherit certain genetic disorders. It’s a simple test that can help you plan with confidence.

What are Jewish Genetic Diseases?

Some genetic disorders are more prevalent in the Jewish population originating from Eastern and Central Europe. This group is known as Ashkenazi and it represents the vast majority of Jewish individuals in North America.

Diseases that are more common among Ashkenazi Jews are referred to as Jewish Genetic Diseases. These diseases include Tay-Sachs disease, Canavan disease, cystic fibrosis and many more, most of which are fatal in childhood.

1 in 4 Ashkenazi Jews is a carrier of a genetic disorder that may threaten infant health. If you have at least one Ashkenazi Jewish grandparent, you may be at risk.

Watch a video to learn more about genetic carrier screening for hereditary disorders.

How are Jewish Genetic Diseases inherited?

You have two copies of every gene; one copy was inherited from your mother and one copy from your father.

A person who has one normal gene and one abnormal gene that can cause a genetic disorder is called a carrier. A carrier is not affected with the disorder, but they can pass on the abnormal gene on to future generations.

If both parents are carriers of the same genetic disorder, then their children are at risk of being affected by the disorder. A child who inherits one copy of the abnormal gene from each parent (resulting in two copies) will be affected by the genetic disorder. With each pregnancy, there is a 1 in 4, or 25%, chance of this happening.

What Jewish Genetic Diseases can be tested?

The diseases recommended for carrier screening by the American Congress of Obstetricians and Gynecologists and/or the American College of Medical Genetics and Genomics are:

  • Bloom syndrome
  • Canavan disease
  • Congenital amegakaryocytic thrombocytopenia
  • Cystic fibrosis
  • Dihydrolipoamide dehydrogenase deficiency
  • Familial dysautonomia
  • Familial hyperinsulinism
  • Fanconi anemia type C
  • Gaucher disease
  • Glycogen storage disease type 1a
  • Joubert syndrome
  • Maple syrup urine disease
  • Mucolipidosis type IV
  • Nemaline myopathy
  • Niemann-Pick disease type A/B
  • Spinal muscular atrophy
  • Tay-Sachs disease
  • Usher syndrome type IF and type III
  • Walker-Warburg syndrome

How is the test performed?

A simple blood test can determine with a high degree of accuracy whether you are a carrier of a genetic disorder.

What does a negative result mean?

A negative result indicates you are not a carrier for the conditions tested, which can provide significant peace of mind. However, no test can detect all possible genetic mutations that could cause disease, so there is a very small chance that you could be a carrier, even after a negative test.

What does a positive result mean?

A positive result tells you that you are a carrier of a genetic disorder. If you are a carrier, it is important to find out if your partner is also a carrier.

If you and your partner are both carriers of the same genetic disorder, then you are at risk of conceiving a child who is affected with the disorder. With each pregnancy, there is a 1 in 4, or 25%, chance that your baby could be affected.

What if my partner and I are at risk for having a child with a genetic disease?

If you are pregnant, prenatal diagnostic tests can tell you whether your baby is affected by the disorder.

There are also options to prevent genetic disorders prior to pregnancy. These options include in vitro fertilization using a diagnostic test to select healthy embryos for implantation, or using donor eggs or sperm from a person who is not a carrier. Some couples choose to adopt a child. Your healthcare provider or a genetic counselor can discuss these options in greater detail.

Is genetic carrier screening required?

All testing is optional. The decision to accept or decline genetic carrier screening is completely up to you.

Talk to your healthcare provider to find out if this test is right for you.