性染色体异常胎儿畸形形态学特征与临床分析

目的探讨性染色体异常合并先天性畸形的类型及其病理特征,并结合临床资料及产前超声筛查结果进行分析,为孕妇提供选择妊娠结局的科学依据。方法对我院2007年4月至2009年8月2 338例有产前诊断指征的孕妇行羊膜腔或脐静脉穿刺术后进行胎儿染色体核型分析,对终止妊娠后娩出胎儿进行病理解剖,并结合临床资料及超声结果进行对比分析。结果 108例畸形胎儿中共检出18例性染色体异常,其中8例有颈部水囊瘤、生殖器发育异常,其与性染色体异常关系密切,尤其是与Turner综合征(Turner syndrome,TS)。冠状幼稚子宫、心脏畸形、唇腭裂也是常见的畸形。结论性染色体异常也是导致胎儿多发性畸形和性腺发育不全的重要原因,因此应在染色体核型结合超声诊断下慎重选择是否终止妊娠。

Morphological features and clinical analysis of fetuses with sex chromosome abnormalities

Objective To investigate the congenital anomalies and pathological features of fetuses with abnormal sex chromosome,and integrate these features with clinical data and prenatal ultrasonographic results in order to provide more solid evidences for prenatal diagnosis.Methods A total of 2 338 pregnant women who need prenatal diagnosis in our center during April 2007 to August 2009 were enrolled in this study.Their samples of amniocentisis or cordocentesis of the fetuses were collected for cytogenetic analysis.After pregnancy termination,the fetuses were observed pathologically,and the results were analyzed and compared with prenatal ultrasound results.Results Among the 108 fetuses with congenital anomalies,there were 18 cases with sex chromosomal abnormalities.Eight of them showed abnormal phenotypes such as cystic hygroma and genital malformation,which were closely related with abnormal sex chromosome.Tuner syndrome was found in most features.Coronary naive uterine,heart deformity and cleft lip and palate were the most common abnormal phenotypes.Conclusion Sex chromosome abnormalities are one of reasons for fetal multiple deformities and gonadal dysgenesis.So clinical,cytogenetic,and ultrasound data should be integrally considered for proper prenatal diagnosis of fetus.