性染色体异常胎儿畸形形态学特征与临床分析-第三军医大学.doc

性染色体异常胎儿畸形形态学特征与临床分析 董艳玲，张晓航，胡 华，胡华梅，胡 斌，徐聚春，龙 洋，章 容，姚 宏 （400038重庆，第三军医大学西南医院产前诊断中心） [摘要]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。方法收集我院2007年4月至2009年8月的2338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 在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，因此在染色体核型结合超声诊断下慎重选择是否终止妊娠。 [关键词]性染色体异常；出生缺陷；病理诊断 [通讯作者]姚宏，电话：（023E-mail： yaohong6319@ Morphological and Clinical Study on fetuses with sex chromosome abnormalities Dong yanling，Zhang xiaohang，Hu hua，Hu huamei，Hu bin，Xu juchun，Long yang，Zhang rong，Yao hong （Department of prenatal diagnosis center， the affiliated southwest hospital，third military medical university chongqing 400038，china） [Abstract] Objectives: To provide more solid evidences for prenatal diagnosis of fetuses with abnormal sex chromosome by studying pathological characters and integrating those characters with clinical data and prenatal ultrasound screening results. Methods: Accumulating and analyzing cytogenetic data from 2338 samples of amniocentisis or cordocentesis of the fetuses with indications of prenatal abnormalities, and linking those data with pathological data of fetus of terminated pregnancy. Finally, comparing and combining cytogenetic and pathological data with prenatal clinical data and prenatal ultrasound results. Results: 18 cases out of 108 fetuses with abnormal phenotype were diagnosed with sex chromosomal abnormalities. 8 cases among those 18 cases showed abnormal phenotypes such as Cystic hygroma，genital malformation. Tuner Syndrome was the most features found in this serial. Coronary naive uterine， heart deformity and palate are the commom abnormal phenotypes as well. Conclusions: sex chromosome abnormalities can lead to a wild spectrum of abnormal phenotypes and gonadal dysgenesis. So clinical, cytogenetic, and ultrasound data should be integrally considered for proper pr