Sonographic diagnosis of Down syndrome in the second trimester

We report a sonographic sign consisting of increased skin or soft tissue thickening at the back of the fetal neck during the second trimester, which correlates well with the diagnosis of Down syndrome. Eight hundred consecutive sonograms were performed in conjunction with genetic amniocentesis where four fetuses had trisomy 21 (Down syndrome) by karyotype. Two or 50% had sonographic findings consistent with Down syndrome. Recently we described a retrospective series where 904 sonograms were performed at the time of amniocentesis and seven fetuses had trisomy 21 on cytogenetic analysis. The abnormal sonographic finding at the back of the neck was present in three of those seven cases. Combining these series, 1704 fetuses were examined and 11 cases of Down syndrome were diagnosed cytogenetically. Five of the 11 or 45% had an abnormal sonogram suggestive of Down syndrome. Two of these were patients undergoing sonography for ascertainment of dates at 16 weeks and submitted to amniocentesis solely on the basis of this sonographic finding.