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New York, NY (November 20, 2001) -- With experience already gathered in about 1500 tests since April 2000, New York Weill Cornell Medical Center of NewYork-Presbyterian Hospital is offering women in the first trimester of pregnancy a simple ultrasound test that is about 80% accurate in detecting Down's syndrome and other genetic abnormalities. The test -- for nuchal translucency, or thickness of the skin at the nape of the neck -- is an early, noninvasive procedure that promises to ease the fears of many expecting parents (including many pregnant women advanced in years), as well as lead to an earlier diagnosis of genetic abnormalities in abnormal pregnancies. New York Weill Cornell is the only university medical center in New York City that is collaborating with an international foundation -- the Fetal Medicine Foundation, based in London -- and offering the test as a regular service, not just as part of a clinical trial.

"We are offering this non-invasive test early in pregnancy which will enhance the autonomy of the pregnant woman," says Dr. Stephen T. Chasen, Director of High-Risk Obstetrics and Assistant Professor of Obstetrics and Gynecology at New York Weill Cornell Medical Center.

Dr. Chasen and three colleagues -- Drs. Frank A. Chervenak and Daniel W. Skupski of Weill Cornell, and Dr. Laurence B. McCullough of Baylor College of Medicine -- describe the current state of knowledge about pregnancy testing in an article, ãPrenatal Informed Consent for Sonogram: The Time for Nuchal Translucency Has Come," in the just-published issue of Journal of "Ultrasound" in Medicine. They conclude: "First-trimester screening for nuchal translucency when conducted according to accepted standards of quality is a reliable diagnostic screen. There is no compelling beneficence-based argument opposed to offering it, and offering it is an important autonomy-enhancing strategy. Such screening should be offered only in centers where high quality is available. In our view, the results of ongoing trials will only enhance this position."

It has been known for about two decades that a thickening of the nuchal skin in a fetus is associated with Down's syndrome and other genetic abnormalities. Ultrasound can measure nuchal translucency at a point late in the first trimester and can be used as a screening test for these abnormalities. The Fetal Medicine Foundation has sponsored a trial in the United Kingdom in which over 100,000 pregnancies were screened. The results, published in 1998, indicated an accuracy rate of about 80% in detecting Down's syndrome and other chromosomal defects.

Dr. Chasen explains that a pregnant woman's risk of one of these abnormalities depends partly on her age. Thus, depending on her age, a women enters the screening with a certain baseline risk for a genetic defect, and the results of the ultrasound produce an adjusted risk. If the test is positive -- if the adjusted risk is sufficiently high -- the woman may choose to undergo amniocentesis or chorionic villus sampling (CVS) for diagnosis. These are invasive techniques that carry a slight risk of miscarriage, so receiving a negative result on the earlier ultrasound test can save a considerable amount of trouble, or even, in some cases, thwart a tragedy. Furthermore, the results of the ultrasound may help the woman choose between amniocentesis and CVS as the subsequent test of choice.

Dr. Chasen and his colleagues point out a few caveats for nuchal translucency screening -- mostly arising from the possibility of false positives -- but they find many potential benefits, and say, "In our view, the potential benefits considerably outweigh the potential harms."