Screening: The First Line in Prevention

For a child to contract Canavan Disease, both parents must be carriers of the defective recessive gene that causes it. But there are no signs or symptoms to warn parents they are carriers. Fortunately, a simple blood test is now available to screen at-risk populations. Parental testing is also available.

In the Ashkenazi population, approximately 1 in 30 is a carrier of Canavan Disease. When both parents are carriers, they risk a 25% chance with each pregnancy of conceiving a child with Canavan Disease. If you are of Ashkenazi descent and thinking of starting a family, ask your OB-GYN to screen for the entire panel of Jewish genetic diseases.