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June 13, 2001

Ultrasound Markers of Fetal Down Syndrome

JAMA. 2001;285(22):2856-2858. doi:10.1001/jama.285.22.2856

To the Editor: Dr Smith-Bindman and colleagues 1 have summarized a large amount of potentially useful data but, I believe, have misinterpreted or ignored data that support the use of ultrasonographic markers of Down syndrome. The results of their meta-analysis show that most ultrasonographic markers as isolated findings are statistically associated with an increased risk for fetal Down syndrome (2.8- to 17-fold greater). Furthermore, the combination of anomalies and markers were identified in 69% of fetuses with trisomy 21 (Table 3). This is consistent with other centers reporting detection rates of 59% to 82% 4 when markers are combined with structural anomalies (observed in less than 20% of affected fetuses before 20 weeks at most centers).2,3 Even using outdated assumptions, the authors found a benefit for all markers except choroid plexus cyst among high-risk patients (defined as a relatively low risk of 1 in 300).

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