576例先天畸形儿的染色体核型分析  

Karyotype Analysis of 576 Cases of Congenital Malformations

作　　者：黄红倩[1] 费冬梅[1] 欧阳鲁平 刘天盛[1] 孙惟佳[1] 郑陈光[1] 

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁530023

出　　处：《国际妇产科学杂志》2014年第6期683-685,共3页Journal of International Obstetrics and Gynecology

基　　金：国家科技支撑计划(2012BAI09B00;2012BAI09B04);广西科学研究与技术开发计划项目(桂科攻099300A-9)

摘　　要：目的:通过对超声确诊为先天畸形儿的染色体核型进行分析,总结染色体异常与畸形部位和畸形数目的关系,为产前诊断提供依据。方法:2009年1月—2013年12月在广西壮族自治区妇幼保健院行羊水穿刺或脐带血穿刺,产前诊断指征为先天畸形儿的576例胎儿进行染色体核型分析,探讨先天畸形儿与染色体异常的关系及比例。结果:细胞培养成功551例(成功率95.66%)。染色体异常90例(16.33%),其中常染色体异常63例(占染色体异常的70.00%),性染色体异常25例(占染色体异常的27.78%),三倍体1例,标记染色体1例。染色体异常的畸形儿中,主要为心脏畸形31例(34.44%),皮肤水肿30例(33.33%),面颈部异常21例(23.33%),脑部结构异常20例(22.22%),消化系统畸形11例(12.22%)。结论:先天畸形儿的染色体异常发生率极高;对超声提示为先天性畸形儿者应行介入性产前诊断,以避免染色体异常患儿的出生。Objective：By means of ultrasound diagnosis of congenital oaf fetal karyotype analysis ,we summarizes the relationship between the chromosomal abnormalities and deformed parts and number of deformity , providing the basis for prenatal diagnosis. Methods：From January 2009 to December 2013 in our hospital an amniocentest or cord blood puncture were performed byindications for prenatal diagnosis of congenital malformations ,576 cases of chromosome karyotype analysis of fetus, were investigate the relationship between the congenital oaf and chromosomal abnormalities. Results：The success rate of cell culture successfully are 551 cases （95.66%）;chromosomal abnormalities in 90 cases （16.33%）,with 63 cases often dyed anomaly of chromosome abnormality （70.00%）;sex chromosome abnormality 25 cases（27.78%of chromosomal abnormality）;triploid in 1 case;marker chromosomes in 1 case. Freak of chromosome abnormalities, the mainly types are cardiac malformation 31 cases （34.44%）,skin edema 30 cases （33.33%）,abnormal face and neck 21 cases （23.33%）,abnormal brain structure 20 cases（22.22%）,and the digestive system malformation 11 cases（12.22%）. Conclusions：Congenital oaf has high incidence of chromosomal abnormalities. For ultrasound tips for congenital oaf , prenatal diagnosis ivtervention should be made to avoid the chromosome abnormalities in children with birth.

关 键 词：先天畸形 染色体畸变 产前诊断 超声检查 产前 

分 类 号：R714.5[医药卫生—妇产科学]