Maria Elena Noto, 32, is having a simple blood test to check her baby for genetic issues. Her last sonogram showed a possible marker for Down syndrome.
"Hopefully everything is fine and I could just continue to be happy with the rest of the pregnancy," Noto said.
New research shows this prenatal test is much more accurate than standard screening, even in low-risk women. The test measures fragments of DNA that are circulating in the bloodstream. If the counts are too high, it suggests the baby has extra chromosomes present.
"With the new study there was a tenfold reduction in the false positive rate," said Dr. Rajeevi Madankumar, a reproductive geneticist at Long Island Jewish Medical Center.
While the test is only offered right now to women considered high risk, researchers say it may be available to all pregnant women in the near future because its accuracy means fewer women will need to follow up with amniocentesis.
"With amniocentesis it's an invasive technique so there is a small risk of miscarriage," Madankumar said.
Noto liked the idea of a noninvasive test.
"I really just don't want the risk-- God forbid-- of miscarriage and I'm OK with whatever God gives me," she said.
Doctors say given earlier test results and Noto's age, the chances of her having a baby with Down syndrome are low. Test results take about 7-10 days.
Researchers hope this kind of genetic testing will be available to low-risk women in the next two years.
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