先天性心脏病胎儿的染色体检测分析

Chromosome karyotyping of congenital heart diseases in fetus

目的探讨胎儿先心病的发病与染色体异常的关系。方法我院2009年1月～2011年12月孕中晚期胎儿超声筛查检出心脏异常者共85例,采集羊水或脐血样本,行G显带染色体核型分析。结果 1.非青紫型心脏异常中,室间隔缺损发病率最高,其次为主动脉狭窄、肺动脉狭窄。青紫型心脏异常中,心内膜垫缺损发病率最高,其次是右室双出口和大动脉共干。2.先心病胎儿中32例(37.6%)染色体异常,最常见的为18-三体,其次为21-三体。3.合并心外畸形者44例,其中23例(52.3%)存在染色体异常;不合并心脏外异常者41例,其中9例(22.0%)存在染色体异常,二者比较有显著性差异。结论先天性心脏病的病因中染色体畸变占有相当重要的地位,先心病胎儿的染色体检测结果应作为判断是否保留胎儿以及是否手术矫正的指征。

Objectives：To detect the chromosome abnormalities in fetuses with congenital heart diseases（CHD）,in order to determine genetic factors’ effect on etiology of CHD.Methods： 85 fetuses with CHD were detected via chromosome karyotyping either taken from amniotic fluid cell or umbilical cord blood cell from January 2009 to December 2011.Results： 1.In non-cyanotic cardiac defect,ventricular septal defect（VSD） had the highest incidence,followed by aortic stenosis and pulmonary stenosis.In cyanotic cardiac defect,endocardial cushion defect had the highest incidence,followed by double outlet right ventricle and truncus arteriosus.2.Of all 85 patients,32 cases（37.6%） were revealed of chromosome abnormalities,of which trisomy 18 is commonly seen,followed by trisomy 21.3.Chromosome abnormalities occurred significant higher in group of fetuses with extra cardiac malformations addition to CHDs.Conclusion： Chromosome aberrations played a very important role to etiology of CHD.Therefore,to fetuses with cardiac defects,chromosome analyze result should be one of the indicators of performing operations and considering termination of pregnancies.