New Prenatal Test Detects Down Syndrome

Published 02/27 2014 05:37PM

Updated 02/27 2014 06:02PM

Genetic testing can be very nerve wracking for expecting parents. Now a simple blood test is offering reassurance.

32-year-old Maria Elena Noto is having a simple blood test to check her baby for genetic issues. Her last sonogram showed a possible marker for Down syndrome.
New research shows this prenatal test is much more accurate than standard screening, even in low risk women. The test measures fragments of DNA 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 10 fold reduction in the false positive rate
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.

Since  amniocentesis is an invasive technique there's a small risk of miscarriage. Noto liked the idea of a non-invasive test. "I really just don't want the risk God forbid of miscarriage and I'm okay with whatever God gives me," she says.
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 to 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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