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Radiology. 2000 Feb;214(2):533-8.

Cerebellar and frontal lobe hypoplasia in fetuses with trisomy 21: usefulness as combined US markers.

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  • 1Department of Radiology, Division of Ultrasound, University of Washington Medical Center, Seattle, USA. tcwinter@facstaff.wisc.edu

Abstract

PURPOSE:

To confirm that cerebellar hypoplasia is ultrasonographically recognizable in second-trimester fetuses with Down syndrome and determine whether the combination of frontal lobe shortening and cerebellar hypoplasia is superior to either measurement alone as a marker of this abnormality.

MATERIALS AND METHODS:

The frontothalamic distance (FTD) and transcerebellar diameter (TCD) were measured in 52 middle-trimester fetuses with euploid karyotypes and in 52 fetuses with Down syndrome. Receiver operating characteristic (ROC) curves were constructed with various thresholds for observed-to-expected ratios (O/Es) of the FTD, TCD, and average of these two parameters.

RESULTS:

The area under the average ROC curve, 0.80, was greater than that for either the FTD alone (0.75) or the TCD alone (0.76). At a 6% false-positive rate, the sensitivity for the detection of Down syndrome obtained with the average parameter was 34% better than that obtained with only the FTD and 12% better than that obtained with only the TCD. With an O/E threshold of 0.92 for the average parameter, an odds ratio of 16.3 and positive predictive value of 12.7% in the high-risk population were achieved.

CONCLUSION:

Although both measurements are individually statistically significant, the combination of TCD and FTD measurements may be superior to the use of either parameter alone as a marker of trisomy 21.

[PubMed - indexed for MEDLINE]
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