[1]董艳玲,张晓航,胡华,等.性染色体异常胎儿畸形形态学特征与临床分析[J].陆军军医大学学报(原第三军医大学学报),2012,34(02):110-112.
 Dong Yanling,Zhang Xiaohang,Hu Hua,et al.Morphological features and clinical analysis of fetuses with sex chromosome abnormalities[J].J Amry Med Univ (J Third Mil Med Univ),2012,34(02):110-112.
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陆军军医大学学报(原第三军医大学学报)[ISSN:1000-5404/CN:51-1095/R]

卷:
34卷
期数:
2012年第02期
页码:
110-112
栏目:
论著
出版日期:
2012-01-30

文章信息/Info

Title:
Morphological features and clinical analysis of fetuses with sex chromosome abnormalities
作者:
董艳玲张晓航胡华胡华梅胡斌徐聚春龙洋章容姚宏
第三军医大学西南医院:妇产科产前诊断中心,超声科
Author(s):
Dong Yanling Zhang Xiaohang Hu Hua Hu Huamei Hu Bin Xu Juchun Long Yang Zhang Rong Yao Hong
Center of Prenatal Diagnosis, Department of Gynecology and Obstetrics,Department of Ultrasonography, Southwest Hospital, Third Military Medical University, Chongqing, 400038, China
关键词:
性染色体异常出生缺陷病理诊断
Keywords:
sex chromosome abnormalitybirth defectpathological diagnosis
分类号:
R596.1;R714.53;R361
文献标志码:
A
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      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。
Abstract:
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.

相似文献/References:

[1]曹霞.2003-2007年海南省无脑畸形发生情况分析[J].陆军军医大学学报(原第三军医大学学报),2008,30(18):1773.
[2]俞炽阳,龙玲,王凤英,等.体外受精-胚胎移植后新生儿出生缺陷4例[J].陆军军医大学学报(原第三军医大学学报),2010,32(15):1666.
[3]梁志清.产前诊断和宫内治疗的技术进展与展望[J].陆军军医大学学报(原第三军医大学学报),2012,34(02):93.
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[4]张忠辉,叶绍珍,曹长远,等.Turner氏综合征(附六例报告)[J].陆军军医大学学报(原第三军医大学学报),1985,07(04):0.[doi:10.16016/j.1000-5404.1985.04.023 ]
[5]曹佳,陈卿.生殖损害和不良妊娠结局的环境、生活方式和心理危险因素研究进展及展望[J].陆军军医大学学报(原第三军医大学学报),2021,43(01):1.
 CAO Jia,CHEN Qing.Progress and prospective of environmental, lifestyle and psychological risk factors for reproductive impairment and adverse birth outcome[J].J Amry Med Univ (J Third Mil Med Univ),2021,43(02):1.

更新日期/Last Update: 2012-01-13