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PRO & CON.
Is second-trimester screening ultrasound of little value in identifying fetuses with Down syndrome?
[YES] I helped perform a metaanalysis of the published literature on using ultra-sonography to identify women with an increased risk of carrying a fetus with Down syndrome. We found that sonographic markers are too insensitive and present in too few fetuses with Down syndrome to be useful (JAMA 285[8]:1044-55, 2001).
Use of these markers in the second trimester leads to more fetal losses as a complication of amniocentesis than cases of Down syndrome detected. The only marker not often seen in normal fetuses was a thickened nuchal fold, but this was present as an isolated finding in so few fetuses with Down syndrome that it's not a practical way to find such cases.
Our analysis included information from 56 articles describing a total of 130,365 unaffected fetuses and 1,930 cases of Down syndrome. We found that because the sensitivity of ultrasonographic markers is low and because Down syndrome is rare, more than 99% of fetuses with an isolated marker would be unaffected. Using the ultrasound marker as an indication for amniocentesis increases the number of unaffected fetuses lost due to complications without appreciably increasing the detection of Down syndrome cases.
Additionally, using several ultrasound markers in aggregate could lead to a false-positive rate that exceeds 10%.
We found no evidence to support the assertion that the ultrasound markers have improved over time; we found the opposite. We also reject the idea that in standard medical practice today amniocentesis is recommended only when a cluster of structural anomalies or a number of markers is found. Many physicians recommend amniocentesis when only one marker is found, a practice we do not support.
The medical literature does not support the idea that a woman's risk of having a fetus with Down syndrome is increased when an isolated ultrasound marker is found if the woman is otherwise at low risk based on maternal age or the results of serum testing.
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Source: HighBeam Research, PRO & CON.