A Roche blood test to screen fetuses for Down syndrome worked far better than standard prenatal screening tests in younger, low-risk women, U.S. researchers said, setting the stage for more widespread use.
The new study, published in the New England Journal of Medicine, is the largest to show the tests are accurate in even low-risk women. But experts warned that women who test positive still need to confirm the result through more invasive diagnostic testing such as amniocentesis, especially if they would consider terminating a pregnancy.
“This is a great test for detecting Down syndrome but it doesn’t detect everything, it isn’t diagnostic, and it doesn’t always work to provide a result,” said Dr. Mary Norton of the University of California, San Francisco.
Prior studies have shown such fetal DNA tests, which measure DNA fragments from the placenta circulating in the mother’s blood, are highly accurate at detecting Down syndrome and two other chromosomal abnormalities in high-risk women, typically those over the age of 35.
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Several physicians’ organizations have supported use of the newer cell free fetal DNA tests over the standard screening in older, high-risk women.
Read full, original article: Fetal DNA tests prove highly accurate but experts warn of exceptions
