1670例胎儿畸形的超声诊断

Ultrasonic diagnosis of 1 670 fetuses with fetal malformation

目的:提高超声对胎儿畸形的诊断符合率,避免漏诊。方法:对2006年1月～2010年8月在广西壮族自治区妇女儿童医院产前超声检出的畸形胎儿进行追踪随访,经分娩、引产或尸检证实畸形。结果:超声共检查孕妇158 649例,检出胎儿畸形1 670例,共2 055个畸形,畸形检出率为10.53‰;共检出致死性畸形156例,严重畸形1500例,轻微畸形14例,产前诊断与产后完全符合1 646例,符合率为98.56%;部分符合24例;漏诊27个畸形,畸形漏诊率为1.31%。羊水穿刺检出染色体核型异常78例,畸形排名位于前三位的分别是胎儿水肿综合征、中枢神经系统畸形及颜面部畸形。结论:产前超声筛查是目前诊断胎儿畸形的首选方法,部分胎儿畸形检出时间可提前到孕12周前。

Objective：To improve the coincidence rate of ultrasonic diagnosis for fetal malformation,avoid missed diagnosis. Methods：The fetuses who were diagnosed with fetal malformation by ultrasonography in the hospital from January 2006 to August 2010 were followed up,then all the fetuses were confirmed after childbirth,induced labor or autopsy. Results：158 649 pregnant women received ultrasonography,1 670 fetuses（2 055 kinds of malformations） with fetal malformation were screened out,the detection rate of fetal malformation was 10.53‰;156 fetuses were found with lethal malformation,1 500 fetuses were found with severe malformation,14 fetuses were found with mild malformation,the prenatal diagnosis of 1 646 fetuses coincided with postnatal diagnosis completely,the coincidence rate was 98.56%;the prenatal diagnosis of 24 fetuses coincided with postnatal diagnosis partially;27 fetuses with fetal malformation escaped from recognition,the rate of missed diagnosis was 1.31%.78 fetuses with chromosomal karyotypic abnormality were screened out by amniocentesis,the top three fetal malformations were fetal edema syndrome,central nervous system anomalies and facial malformations. Conclusion：Prenatal ultrasonography is a preferred method for diagnosis of fetal malformation at present.The detection time of partial fetal malformations can be advanced to the time before 12 gestational weeks.