Prenatal Screening and Genetic Counseling for Gaucher Disease

If you have Gaucher disease (pronounced go-SHAY) or a family history of the disease, prenatal screening and genetic counseling can help you understand your risks. Even if your children are at risk of being born with Gaucher disease, they may have a very mild form or no symptoms at all.

Prenatal Screening

While Gaucher disease can affect anyone, it is especially common among people of Ashkenazi (Eastern European) Jewish descent. Researchers believe as many as 1 in 10 of this population are carriers. Carriers do not have Gaucher disease, but they can pass the Gaucher gene on to their children. Learn more about Gaucher disease carrier status.

Gaucher disease type 1 is the most common of several inherited Jewish genetic diseases that include Tay-Sachs disease and familial dysautonomia. The American College of Obstetricians and Gynecologists recommends special types of prenatal tests for Ashkenazi Jews.

Prenatal screening uses your genetic information and that of your partner to determine the overall probability that your child will have Gaucher disease. Doctors use saliva and blood tests to make this determination. Find out more about Gaucher disease inheritance and genetics.

Prenatal Diagnosis

If there is a known genetic mutation in the family, invasive testing via chorionic villus sampling (CVS) or amniocentesis (sampling womb fluid) can provide a prenatal diagnosis. Unlike genetic screening that analyzes parental DNA to determine the probability your child will have Gaucher disease, amniocentesis says for certain whether your child has the disease.

This kind of testing is uncommon, unless there is a familial history of Gaucher disease type 2. Many people with Gaucher disease type 1 have a very mild form of the disease with few to no symptoms at all. Prenatal testing is an ethically complicated personal decision, one that should involve discussion among parents, Gaucher experts and a genetic counselor. Learn more about Gaucher disease prognosis and life expectancy.

Genetic Counseling

Genetic counseling may be helpful you if you have Gaucher disease or are a carrier. A genetic counselor can help you:

Does My Insurance Cover Prenatal Screening and Genetic Counseling?

Your insurance may cover the cost of prenatal screening and genetic counseling, especially if you have a family history of Gaucher disease. Physicians also recommend special prenatal tests if you are of Ashkenazi Jewish descent.

Additional Resources on Prenatal Screening and Genetic Counseling

If you want more information on genetic counseling, these resources might be helpful:

  • Center for Jewish Genetics: The Center for Jewish Genetics is an educational resource for hereditary cancers and Jewish genetic disorders. The center offers subsidized genetic counseling and screening.
  • Jewish Genetic Disease Consortium: The Jewish Genetic Disease Consortium is an alliance of nonprofits that encourages genetic screening for everyone with Jewish heritage.
  • Victor Center for the Prevention of Jewish Genetic Diseases: The Victor Center for the Prevention of Jewish Genetic Diseases provides affordable genetic counseling and screening for healthy people who are at risk of being carriers.
  • JScreen: JScreen is a nonprofit public health initiative that provides easy home test kits for people of Jewish descent. Genetic counselors from Emory University School of Medicine assess the results and provide additional information and resources.
  • National Society of Genetic Counselors: The National Society of Genetic Counselors is an online directory where you can search for a genetic counselor in your area.

Find out more about resources for Gaucher disease patients and families.

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