中晚孕期18-三体综合征胎儿的超声特征

Sonographic features of trisomy 18 at midpregnancy and latepregnancy.

目的:研究中晚孕期18-三体综合征胎儿超声影像的变化。方法:回顾分析经羊膜腔穿刺、脐血管穿刺胎儿染色体分析确诊为18-三体的胎儿24例的临床资料和超声影像特征。结果:24例18-三体胎儿中,22例超声影像有变化,占全部病例的91.7%;最常见的超声变化是心脏畸形,共15例,占62.5%;其它常见的异常有脉络膜囊肿、脐带异常、肢体异常、宫内生长迟缓、脑室扩大、小脑延髓池扩大等;还可见颅骨变形、颜面裂、颈项皮肤增厚、消化道闭锁、腹壁缺损、膈疝、肾盂轻度积水、羊水过多等。结论:超过90%的18-三体胎儿中晚孕期可发现超声影像改变,中晚孕期胎儿超声检查是产前筛查18-三体胎儿的有效手段。

Objective：To evaluate the sonographic characteristics of the fetuses with trisomy 18 at 18- 32 weeks of gestation. Methods：The results of ultrasound findings of 24 cases of trisomy 18 were reviewed. Trisomy 18 was confirmed by amniocentesis and cordocentesis. Results ： Twenty two cases had at least one abnormal sonographic finding and the rate of abnormal sonographic findings was 91.7%. Cardiac anomalies was the most common finding demonstrated in 15 cases （ 62.5 % ） of all cases. Other common sonographie findings included choroid plexus cysts, umbilical cord cyst and single umblical artery, abnormal hands/feet, fetal growth restriction, ventriculomegaly and enlarged cisterna magna. Less common findings were abnormal head shape, cleft lip, increased nuchal translucency, gastrointestinal abnormal, abdominal-wall defect, diaphragmatic hernia, mild hydronephrosis, polyhydramnios. Conclusion ： 91.7 % fetuses with trisomy 18 have abnormal sonographic findings at 18 to 32 weeks of gestation. Detailed ultrasound at midpregnaney and latepregnancy can effectively screen fetuses with trisomy 18 for further genetic testing.