13-三体综合征胎儿产前超声表现分析

目的探讨13-三体综合征胎儿产前超声表现特征及其临床意义。方法对2008年至2011年产前在我院经染色体检查诊断为13-三体综合征的12例胎儿的超声声像图特征进行总结分析。结果 12例13-三体综合征胎儿中1例孕65d时超声检查无胎心搏动,其余11例产前超声检查时发现均有1种以上结构畸形,其中心脏结构异常6例,颜面部畸形6例,前脑无裂畸形4例,单脐动脉2例,Dandy-Walker畸形、脐膨出、脐带囊肿、双肾积水、颈部淋巴水囊瘤、多指畸形、足内翻、多囊性肾发育不良、胸腹腔积液、肠管回声增强、侧脑室增宽,颈项透明层增厚各1例;其中前脑无裂畸形和与之相关的颜面部畸形具有其特征性。结论胎儿13-三体综合征有其特征性超声表现,产前超声检查是协助临床早期发现胎儿13-三体综合征的一种可靠、有效的方法,具有重要临床意义。

Prenatal ultrasonography of fetuses with trisomy 13 syndrome

Objective To assess the characteristics and the value of prenatal ultrasonography of fetuse with trisomy 13 syndrome. Methods The ultrasonic manifestations of 12 fetuses with trisomy 13 syndrome from 2008 to 2011 were retrospectively analyzed. Results Of all cases,1 case was found without pulsation when 65-day gestation. The other 11 cases were all found more than one structure malformation by prenatal ultrasound examination. Six were found with heart abnormalities,6 were found with craniofacial malformations. Four with holoprosencephaly. Two with Single Umbilical Artery. Dandy-Walker malformation, omphalocele,umbilical cord cyst,bilateral hydronephrosis,cystic hygroma,polydactyly,strephenopodia, multicystic dysplastic kidney,pleural effusions and ascites,echogenic bowel,lateral ventriculomegaly,thicken NT in one case respectively. Holoprosencephaly and its related malformations in facial area were characteristic findings. Conclusions There were characteristic ultrasonic manifestations in fetuse with trisomy 13 syndrome. Prenatal ultrasonography is a reliable and effective assistant method in finding fetuses with trisomy 13 syndrome earlier and is very important in clinic trials.