18三体综合征的产前超声诊断

目的探讨18三体综合征的超声表现及产前超声诊断的临床意义。方法对脐血或羊水染色体核型分析确诊为18三体综合征的8例胎儿超声声像图进行回顾性分析。结果8例18三体综合征胎儿声像图均表现为胎儿结构异常，7例（7／8）超声表现为两个部位以上畸形，5例（5／8）合并心脏畸形，2例（2／8）为全前脑，2例（2／8）为单脐动脉，1例（1／8）为Dandy-walker综合征，其他畸形还有唇腭裂、膈疝、脐膨出、食道闭锁、桡骨发育不良、手畸形、马蹄内翻足、小下颌。4例（4／8）合并羊水过多，3例（3／8）宫内发育迟缓。结论产前超声筛查对诊断18三体综合征具有重要的临床意义。

The prenatal ultrasomc diagnosis of trisomy 18

Objective To investigate the sonographic appearances of trisomy 18 and the clinical sig- nificance of prenatal ultrasonic dignosis of trisomy 18. Methods To analyze retrospectively the uhrasonography of 8 cases which had been karyotyped to be trisomy 18 by fetal blood sampling or amniocentesis. Results All of the 8 cases were abnormal in ultrasonography. There were more than 2 parts of anomalies in 7 cases （7/8）, heart anomalies in 5 cases （ 5/8 ）, holoprosencephaly in 2 cases （2/8）, single umbilical artery in 2 eases（2/8）, Dandy-walker syndrome in 1 case （1/8）, and other anomalies such as cleft lip and cleft palate, diaphragmatic hernia, omphalocele, esophageal atresia, malformation of radius, club hand, club foot. Four cases were polyhydrmnios and 3 cases were IUGR. Conclusion The ultrasound prenatal screening of trisomy 18 has important clinical value.