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Screening

What is genetic carrier screening?

What does it mean to be a carrier?

Screening recommendations for persons of Jewish heritage

If you have a family history of genetic disease

Where to go for screening

 

It’s important to be screened before you start a family. If both you and your partner are carriers, there are many more options available to you before pregnancy than there are once you’re already pregnant

 

What is genetic carrier screening?

Genetic carrier screening gives you critical information to build a healthy family. It will tell you if you’re a carrier of a serious disease you may pass along to your children.   If you’re planning to have children, it’s important that you speak to your doctor or a genetic counselor about preconception carrier screening.  

View video:  A Genetic Counselor on Screening

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What does it mean to be a carrier?

A carrier of an "autosomal recessive" genetic condition such as Canavan disease shows no signs of illness. The only way to know if you’re a carrier of Canavan disease—or other similar genetic conditions—is to be screened or to have a child born with the disease. 

If you’re a carrier—of Canavan disease or any other genetic diseases—you’ll want to have your partner screened too. If both you and your partner turn out to be carriers of the same disease, you’ll want to work with a genetic counselor to discuss the options for building the family you want.

If you have had a child affected by Canavan disease, then you already know you and your partner are both Canavan carriers. For any future pregnancy there is a 25% chance of having another child affected with the disease. However, there are reproductive options that can enable you to build a healthy family.

View video   A Genetic Counselor on Options.

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Screening recommendations for persons of Jewish heritage

We strongly urge anyone of Ashkenazi (German or Eastern European) Jewish ancestry to be screened for Canavan Disease. We also recommend that you also consider screening for up to 37 other diseases currently on the list of diseases which affect persons of Ashkenazi heritage.  You can see the complete list at the Jewish Genetic Disease Consortium website.

Individuals of Ashkenazi ancestry should note that screening for one of the diseases on the list, Gaucher disease, may reveal that the individual actually has the disease. For more information visit the Medline Plus article on Gaucher and the Gaucher Foundation.

If you are of Sephardic (Mediterranean) or Mizrahi (Persian or Middle Eastern) Jewish heritage, there are specific genetic concerns based on your family’s origin.  You can see the complete list at the Jewish Genetic Disease Consortium website.

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If you have a family history of genetic disease

If you have any family history of genetic disease, regardless of your ancestry, you should also consider screening. Make you sure you talk to your doctor.

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Where to go for screening

Most OB/GYNs can order genetic carrier screening.  If this is not an option for you, there are a number of hospital-based screening programs around the country.  Click here for more information and a clinic list.

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