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First-Trimester Ultrasound Can Screen For Genetic Abnormalities.(Brief Article)
2001 DEC 13 - (NewsRx.com & NewsRx.net) -- With experience already gathered in about 1500 tests since April 2000, New York Weill Cornell Medical Center of New York-Presbyterian Hospital is offering women in the first trimester of pregnancy a simple ultrasound test that is about 80% accurate in detecting Down 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, United Kingdom - and offering the test as a regular service, not just as part of a clinical trial.
"We are offering this noninvasive 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.
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, "Prenatal informed consent for sonogram: The time for nuchal translucency has come," in the November 2001 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 syndrome and other genetic ...
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