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  Vol. 286 No. 22, December 12, 2001 TABLE OF CONTENTS
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Diagnosing Down Syndrome

Joan Stephenson, PhD

JAMA. 2001;286:2801.

Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Using ultrasonography to determine the presence or absence of a bone in the nose of fetuses aged 11 to 14 weeks could help improve the prenatal diagnosis of Down syndrome, according to researchers at King's College Hospital Medical School, London, and Ohio State University, Columbus.

Physicians diagnose Down syndrome with an invasive test—amniocentesis or chorionic villus sampling—in women considered to be at high risk after screening. In addition to maternal age as a risk factor, current screening methods include maternal blood testing during the second trimester and first-trimester fetal nuchal translucency scanning (which measures the accumulation of fluid at the back of the neck).

The investigators examined 701 fetuses at 11 to 14 weeks of gestation, noting the presence or absence of the bone. They found that the nasal bone was absent in 43 (73%) of 59 affected fetuses and in just 3 (0.5%) of 603 chromosomally . . . [Full Text of this Article]



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