Early Checking for Down's Syndrome: Still a Distant Dream
Still No Substitute for Second-Trimester Testing
WebMD News Archive
For now, the two definitive tests for Down's syndrome and other chromosomal
abnormalities are amniocentesis and chorionic villi sampling (CVS). Both carry
a slight risk of miscarriage. Because CVS has a somewhat higher risk of
miscarriage than amniocentesis, as well as a risk of malformations, fewer women
Laboratory screening tests that can help a woman know her risks include
plasma protein A concentration and free beta-hCG concentration. FASTER will
determine the value of a combination approach and will involve both laboratory
tests such as these and nuchal translucency.
"I couldn't agree more that [nuchal translucency] is still in the
investigational stage," Ronald J. Wapner, MD, tells WebMD. For a woman who
finds the risk of losing a normal pregnancy as the result of testing, screening
tests at a proper center may be a realistic option, says Wapner, who is the
director of maternal-fetal medicine and reproductive genetics at Jefferson
Medical College in Philadelphia. Wapner reviewed the study for WebMD.
"This is an opinion article and not unbiased, because some of the
authors are conducting an NIH [study]," Greggory DeVore, MD, tells WebMD.
"First trimester screening really has no benefits other than detection of a
few patients two weeks earlier into the pregnancy. The safest and most
cost-effective screening is second-trimester ... screening plus genetic
ultrasound. " DeVore, who was not involved in the article, is the medical
director of Fetal Diagnostic Center of Pasadena, Calif.
- Although there are screening tests available for women in the first
trimester of pregnancy to evaluate the risk of chromosomal abnormalities, these
tests are not definitive.
- The nuchal translucency is the newest of such tests, and researchers are
currently looking at its effectiveness in combination with other tests and
comparing it to second-trimester screening.
- Two definitive tests for chromosomal abnormalities are amniocentesis and
chronic villi sampling, but both of these carry a small risk of