FORT WORTH (CBSDFW.COM) – A simple blood test may replace the invasive amniocentesis as the standard for testing a fetus for Down’s syndrome.
Even though the amniocentesis is about 80-percent accurate, many women don’t want to have the test. “The amniocentesis, although being relatively safe, carries some risk and is invasive, so this would be major,” explained Obstetrician John Bertrand, with Texas Health Presbyterian Dallas.
According to Bertrand, the new blood test, taken between 12 and 13 weeks of pregnancy, has proven to be 100-percent accurate in a small sample of pregnant women.
Researchers are now looking at doing a bigger study. “I think we’re gonna look a this over a couple of years and about a thousand-plus patients and then um, if the NIH (National Institutes of Health) and the FDA (Food and Drug Administration) all feel that this is a good test we’ll be able to offer it in the clinics,” said Dr. Bertrand.
Researchers say the new test eliminates the risk of miscarriage by detecting Down syndrome through fetal DNA that has spilled into the mother’s bloodstream.
In Down syndrome, there are three copies of chromosome 21, called trisomy-21, instead of the normal two. One in every 700 children born will have Down’s syndrome.
The study was published online March 6 in Nature Medicine.