中晚孕期染色体异常胎儿产前超声声像特征

目的]探讨中晚孕期染色体异常胎儿产前超声声像表现特点.方法]回顾性总结分析29例中晚孕期染色体异常胎儿染色体检查结果和产前超声特征.结果]29例染色体异常胎儿中,产前超声检出单发畸形5例,17例胎儿表现为多发畸形,单纯表现为超声微小异常5例,2例胎儿超声未见任何异常.超声异常声像发生率93.1%(27/29),18例畸形胎儿同时伴随超声微小异常出现,超声微小异常发生率为85.2%(23/27).10例18-三体胎儿,9例产前超声表现为多发畸形,主要为神经系统畸形(7/9)、心脏畸形(7/9)及胎儿手姿势异常(5/9),1例仅表现胎儿水肿;5例21-三体胎儿,3例无结构畸形,仅表现为一个或多个超声微小异常,2例未见任何异常;3例13-三体胎儿,产前超声均表现有严重神经系统畸形,其中全前脑2例,Dandy-Walker综合征1例;4例45X0;7例染色体结构异常胎儿,3例(3/7)可见心脏畸形或伴有其它异常超声表现.结论]中晚孕期染色体异常胎儿产前超声检查大部分可发现异常声像,以多发畸形常见,大多数伴有超声微小异常.部分染色体异常胎儿有相应的典型异常声像.

Prenatal Ultrasonic Characteristics of Fetus with Chromosomal Abnormality in Middle and Last Trimester of Pregnancy

Objective] To explore the prenatal ultrasonic characteristics of fetus with chromosomal abnor- mality in middle and last trimester of pregnancy. Methods] The result of chromosomal test and prenatal ul- trasonic characteristics of 29 fetuses with chromosomal abnormality in middle and last trimester of pregnancy were analyzed retrospectively. Results] Among 29 fetuses with chromosomal abnormality, there were 5 cases of single deformity, 17 cases of multiple deformity, 5 cases of minor anomaly and 2 cases of no anomaly detec- ted by prenatal ultrasonography. The abnormal rate of ultrasound was 93.1% （27/29）. Ultrasound minor a- nomaly was found in 18 fetal abnormalities, and the rate of ultrasound minor anomaly was 85.2 % （23/27）. A- mong 10 fetuses with trisomy 18, prenatal ultrasonographic findings of 9 fetuses were multiple deformity main- ly including nervous system abnormality（7/9）, heart abnormality（7/9） and abnormal hand posture（5/9）, and one case was fetal hydrops. Among 5 cases of trisomy 21, 3 cases had no structural malformation and only showed one or more ultrasonic minor anomaly, and 2 cases had no any abnormality. The prenatal ultrasono- graphic findings of 3 fetuses with trisomy 13 were serious nervous system abnormality including holoprosen- cephaly in 2 cases and Dandy-Walker syndrome in other 1 ease. The 45 X0 was found in 4 cases. Chromosomal structure abnormality was found in 7 cases. Heart abnormality or other abnormal ultrasound appearance were found in 3 cases（3/7）. Conclusion]The prenatal ultrasonography of fetus with chromosomal abnormality in middle and last trimester of pregnancy can mostly find abnormal image, in which multiple deformity is com- monly seen. Most of them are accompanied by ultrasound minor abnormality. A part of fetuses with chromo- somal abnormality have corresponding typical abnormal image.