Ultrasonographic detection of the second-trimester fetus with trisomy 18 and trisomy 21.

Biparietal diameter/femur length ratio and nuchal thickness were found to be sensitive indicators for the prenatal detection of trisomy 18 and trisomy 21. A biparietal diameter/femur length ratio greater than 1.5 SD above the control mean correctly identified 5 of 11 (46%) fetuses with trisomy 21 and 3 of 4 (75%) fetuses with trisomy 18. Nuchal thickening (6 mm or more) correctly identified 5 of 12 (41%) fetuses with trisomy 21 and 2 of 4 (50%) fetuses with trisomy 18. The sensitivity and specificity of the biparietal diameter/femur length ratio in detecting either aneuploidy was 53% and 93%, respectively, whereas a thickened nuchal fold had a sensitivity of 44% and a specificity of 100%. The combined use of the two ultrasonographic measurements had an overall sensitivity of 81% and a specificity of 93%. Prospective ascertainment of these two trisomies appears warranted in low-risk populations.

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