Frontal lobe shortening in second-trimester fetuses with trisomy 21: usefulness as a US marker.

Abstract

To determine whether the frontal lobe is disproportionately smaller than normal in second-trimester fetuses with Down syndrome by using prenatal ultrasonographic (US) measurements of the frontothalamic distance (FTD). The FTD, measured from the inner table of the frontal bone to the posterior margin of the thalamus, was measured in 43 fetuses (mean gestational age, 17.2 weeks +/- 1.3 [standard deviation]; range, 15.0-20.4 weeks) with chromosomally proved trisomy 21 and in 160 chromosomally normal fetuses (mean gestational age, 17.1 weeks +/- 1.5; range, 14.5-22.5 weeks). Other cranial biometric ratios also were calculated. The FTD was best predicted from the estimated gestational age (EGA) in the euploid population with the quadratic equation FTD = -0.0120 x EGA2 + 0.6917 x EGA - 5.2349 (R2 = .731) or from the biparietal diameter (BPD) with the linear equation FTD = 0.6837 x BPD + 0.5525 (R2 = .731). If an observed-to-expected ratio of 0.84 is used as a cutoff sign to screen for trisomy 21, a sensitivity of 16%, specificity of 97%, odds ratio of 6.03 (95% confidence interval, 1.81, 20.1), and relative risk of 5.98 are achieved. The frontal lobe is statistically significantly smaller in fetuses with trisomy 21. US measurement of the FTD may prove to be a useful adjunctive screening tool if used with other markers for Down syndrome.