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December 2005 · Vol. 17, No. 12

New choices in prenatal screening for Down syndrome

A FASTER trial investigator discusses first-trimester combined screening, integrated screening, and findings from the trial


Fast Track

Only the FASTER and SURUSS trials compared screening markers in the same women at different times during pregnancy

Only 1 in 100 women who have integrated screening will be screen-positive, and about 85% of all Down syndrome pregnancies will be found in that 1%

Specialized training and ongoing quality assurance are necessary to get the nuchal translucency measurement right

In the FASTER and SURUSS trials, nuchal translucency was more informative than any of the serum markers tested

An ultrasound finding of cystic hygroma warrants an immediate prenatal diagnostic workup

A nuchal translucency value of 3–4 mm or more warrants immediate chorionic villus sampling

If nuchal translucency ultrasound is available by 11–13 weeks, the integrated test is safest and most effective

Jacob  A.  Canick,  PhD

Professor and Director, Division of Prenatal and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Brown Medical School,  Providence, RI

IN THIS ARTICLE

CASE-BASED LEARNING

Her risk is high, but how high? Is invasive testing the only answer?

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