Screening certain infants can be lifesaving, Wake Forest study shows

WINSTON-SALEM, N.C. Investigators at Wake Forest University Baptist Medical Center have demonstrated for the first time that screening newborn infants for a particular genetic defect can be lifesaving when their mothers develop a rare complication of pregnancy. "It allowed early diagnosis and dietary treatment in affected infants before symptoms appeared," said Jamal A. Ibdah, M.D., Ph.D., the principal investigator, writing in the Nov. 6 issue of the Journal of the American Medical Association.

In a study of 108 women who developed liver problems unique to pregnancy, 27 fit a diagnosis of what is called acute fatty liver of pregnancy. The investigators detected a mutation in infants born to five families, or 19 percent, of the women with acute fatty liver. "I want the public to know that although this is a rare disorder, the treatment of it is simple and can prevent a death," said Ibdah, associate professor of internal medicine (gastroenterology). "Saving the life of one baby is enough."

The fetus's genetic defect -- which occurs about once in 40,000 babies -- blocks the body's use of most fatty acids, the key component in most fat. Fatty acids are ordinarily used to supply energy and for other essential functions. But in these pregnancies, unused fatty acids spill over through the placenta into the mother's bloodstream and have a toxic effect on the mother's liver, said Ibdah. (Acute fatty liver of pregnancy also has other causes.) It is the newborns of these mothers that need to be screened, Ibdah said. "The best time for screening is at birth since the babies manifest the disease at a few months of age."

"The association between acute fatty liver of pregnancy and the mutation is significant," the researchers said. "It is critically important that pediatricians, perinatologists, obstetricians and gastroenterologists be informed of this association."

Screening the babies "allows early diagnosis and treatment in the newborn and gen

Contact: Robert Conn
Wake Forest University Baptist Medical Center

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