Simple Prenatal Blood Test for Inherited Disorders

The results showed the fetus was unaffected, so treatment and its complications were avoided. The study was published in the April 2002 issue of Clinical Chemistry.

Previously, genetic testing would have been performed on fetal cells collected by an invasive procedure such as amniocentesis or chorionic villus sampling. The new approach allows for testing as early as 11 weeks. Although the test in the study was for congenital adrenal hyperplasia (CAH), an enzyme disorder that causes virilization, the new approach has important potential for other inherited disorders, especially those in which the fetus shares a mutation with its mother.

"The large amount of cell-free fetal DNA circulating in a pregnant woman's bloodstream is a previously unappreciated source of material for genetic diagnosis that can be obtained without harming the fetus,” said Diana W. Bianchi, M.D., department of pediatrics and obstetrics and gynecology at Tufts New England Medical Center (Boston, MA, USA), and one of the researchers. CAH is of special interest in fetal diagnostics because it is relatively common and in utero treatment is effective in preventing complications of the disease.




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