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Leading the Fight to treat and cure
Tay-Sachs, Canavan and related diseases

Carrier Screening

Carrier screening is an important and responsible part of family planning which allows you to find out whether you are a carrier of a genetic disease. Everyone should seek genetic counseling prior to conception, but it is especially important for people of Ashkenazi Jewish (Eastern European) heritage because approximately one in four Ashkenazic Jews is a carrier of Tay-Sachs or a related disease. 

A carrier of a recessive disease like Tay-Sachs does not experience any adverse health effects. The gene may be passed through the generations without anyone's knowing the gene is in the family until a child is diagnosed or the gene is detected through carrier screening.

Inheritance

Almost all of our genes come in pairs, one inherited from each of our parents. A carrier of a genetic condition is a person who has one copy of the same gene. A recessive condition like Tay-Sachs results when a child inherits two copies of an altered gene, one from each parent. Both parents must be carriers of the same recessive disease gene in order for any of their children to be affected.

If only one parent is a carrier, there is no chance of producing a baby with a recessive disease. There is, however, a 50% chance in each pregnancy that the child will be a carrier.


For more information, see About Inheritance.

 

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