Genetic Testing (Liver Disease)

Testing Pregnant Women with Liver Illness Could Save Infant Lives

Published in Gene Therapy Weekly, June 28th, 1999

In the third trimester of pregnancy, some women are struck suddenly by swelling, severe nausea, vomiting, or jaundice - symptoms of an illness called acute fatty liver of pregnancy (AFLP).

These women and their partners sometimes have passed on a genetic mutation that prevents their babies from processing certain fats for energy. In severe cases, the genetic defect can result in a baby's death.

To save lives, researchers at Washington University School of Medicine in St. Louis, Missouri, are recommending that women with AFLP be screened, along with their partners and children, for this mutation, called E474Q. They published their study in the June...

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Source: Gene Therapy Weekly (1999-06-28)

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