Benacerraf B R, Frigoletto F D, Laboda L A
Am J Obstet Gynecol. 1985 Sep 1;153(1):49-52. doi: 10.1016/0002-9378(85)90588-5.
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.
我们报告一种超声征象，即在孕中期胎儿颈部后方皮肤或软组织增厚，这与唐氏综合征的诊断密切相关。我们连续对800例孕妇进行超声检查，并同时进行基因羊膜穿刺术，其中有4例胎儿经核型分析确诊为21三体综合征（唐氏综合征）。其中2例（占50%）有与唐氏综合征相符的超声检查结果。最近，我们回顾性分析了一系列病例，在羊膜穿刺术时进行了904例超声检查，经细胞遗传学分析有7例胎儿为21三体综合征。这7例中有3例在颈部后方有异常超声表现。将这些系列病例合并，共检查了1704例胎儿，经细胞遗传学诊断有11例唐氏综合征。这11例中有5例（占45%）超声检查异常，提示唐氏综合征。其中2例是在孕16周因确定孕周而行超声检查的孕妇，仅基于这一超声检查结果就接受了羊膜穿刺术。
