(26 Feb 2014) A DNA test of a pregnant woman's blood is more accurate than current methods of screening for Down syndrome and other common disorders, new research finds.
If other studies bear this out, it could transform prenatal care by giving a more reliable, non-invasive way to detect these problems very early in pregnancy.
That would let couples decide sooner whether to have an abortion or to prepare for a major medical problem.
It also might cut down on the 200,000 more invasive tests like amniocentesis done each year in the United States to diagnose or rule out problems with a fetus.
"The fetal DNA test is offered from ten weeks onwards," said the study leader, Dr. Diana Bianchi, of Tufts Medical Center in Boston.
That's a couple weeks sooner than current methods, and Bianchi says, "it will help a woman get information about whether or not her pregnancy is at risk."
Several companies already sell these DNA blood tests.
They screen for disorders caused by extra or missing chromosomes, such as Down syndrome, which occurs in about one of every 700 pregnancies.
Current screening methods are imprecise.
Ultrasounds and various blood tests can hint at a problem but don't directly test for one.
The next step is diagnostic testing _ amniocentesis, like a needle biopsy to collect fetal cells, or chorionic villus sampling, which takes a snip of the placenta.
Both bring a small risk of miscarriage.
The DNA tests aim to improve screening and lower the number of women referred for these more invasive tests.
"There is a much lower false positive rate with the DNA tests," said Bianchi.
Using a sample of the mom's blood, they sequence the alphabet of bits of DNA shed from the placenta and map them to various chromosomes.
The numbers are compared to what's normal at that stage of pregnancy.
Groups like the American College of Obstetricians and Gynecologists say these DNA tests can be an option for higher risk pregnancies _ moms 35 and older, those with an abnormal ultrasound or blood test, or with a prior pregnancy involving abnormal chromosomes.
The new study, published Wednesday by the New England Journal of Medicine, is the first to look at their use in a general U.S. population.
Nearly 2,000 women had standard prenatal screening plus a fetal DNA test from Illumina Inc., a California company that sponsored the study.
Both methods detected eight chromosome abnormalities, including five of Down syndrome.
But the false alarm rate for Down syndrome with DNA testing was just a fraction of that for standard screening _ 0.3 percent versus 3.6 percent.
DNA tests also gave fewer false alarms for Edwards and Patau syndromes, less common chromosome abnormalities.
That means far fewer women would be advised to get diagnostic tests to rule out a problem.
"So the overwhelming majority of these women are told they do not have a fetus with a chromosome abnormality and therefore they achieve peace of mind as early at ten weeks into the pregnancy," said Bianchi.

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