Maternal Blood Test Diagnoses Down’s Syndrome

“A blood test for pregnant women may be able to diagnose trisomy 21, which leads to Down’s syndrome, and other chromosomal abnormalities in the fetus, according to a preliminary study.

The new test yielded a false positive rate under 2% for trisomy 21 with a detection rate of 66%, said Ravinder Dhallan, M.D., of Ravgen Inc., here, and colleagues. Their company-sponsored, preliminary study of 60 pregnant women was published online in the Feb. 3 issue of The Lancet.” (MedPage Today)

The test is not yet commercially available, and take note that the detection rate is only around 2/3 although there is a negligible false positive rate. But it is far safer than amniocentesis as a first screen.