产前超声筛查胎儿心脏异常表现与染色体异常的相关性研究  

The relevance study of fetal cardiac abnormalities screened by prenatal ultrasound and chromosomal abnormalities

作　　者：杨文娟[1] 吴青青[1] 姚苓[1] 王莉[1] 李蔓[1] 王欣[1] 李莉[1] 

机构地区：[1]首都医科大学附属北京妇产医院超声科,100026

出　　处：《中华医学超声杂志（电子版）》2011年第4期765-771,共7页Chinese Journal of Medical Ultrasound(Electronic Edition)

基　　金：国家自然科学基金"胎儿先天性心脏病临床表型与家系基因突变表现型关联的研究"(项目批准号:81071159);留学回国人员科研启动基金(编号:教外司留[2005]383号)

摘　　要：目的探讨产前超声筛查胎儿心脏异常表现与染色体异常的相关性。方法对3103例行产前超声检查及染色体核型分析胎儿中216例心脏异常者的超声征象及染色体检测结果进行回顾性分析。结果 3103例胎儿中染色体核型分析结果异常115例。超声检查心脏畸形70例胎儿中染色体异常23例(32.9%);心室点状强回声146例,染色体检查异常5例(3.4%),其中1例为单纯心室点状强回声,染色体检查为46,XX,inv(9)(q21;q13),2例为左心室点状强回声合并心脏畸形、心外异常,2例为左心室点状强回声合并心外异常;心脏异常胎儿合并染色体异常以18-三体最常见(13例,50.5%),其次为21-三体(8例,30.8%)。不存在心脏结构畸形胎儿3033例,染色体异常92例(3.0%)。心脏结构畸形与无心脏结构畸形胎儿染色体异常发生率比较差异有统计学意义(P=0.000),提示存在心脏结构畸形胎儿染色体异常发生率较高。结论胎儿心脏结构畸形与染色体异常关系密切,产前超声筛查发现心脏畸形应仔细检查胎儿是否合并心外系统畸形,并结合临床筛查指标建议行染色体检查。Objective To evaluate the relationship between fetal cardiac abnormalities screened by prenatal ultrasound and chromosomal abnormalities.Methods The abnormal ultrasound signs and chromosomal results in 216 cases of fetuses with cardiac abnormalities included in 3103 fetuses were retrospectively analysed.Results In 3103 cases of fetuses,115 cases of fetuses were found with chromosomal abnormalites.Seventy cases of cardiac malformation were screened by prenatal ultrasound,in which 23 cases of fetuses had chro...

关 键 词：产前超声检查 心脏异常 染色体异常 

分 类 号：R714.5[医药卫生—妇产科学]