先天性心脏病产前超声心动图诊断与染色体异常的对比研究

Comparative study on congenital heart disease diagnosed by prenatal echocardiography and chromosome examination results

目的研究超声心动图产前诊断先天性心脏病与胎儿染色体核型异常的关系。方法收集185例超声心动图产前诊断为胎儿先天性心脏病(CHD)并行染色体检查者为病例组,选取未检出CHD的185例胎儿为对照组;将胎儿CHD分为简单型与混合型组、无心外畸形与伴心外畸形组,比较4组的染色体异常率。结果病例组胎儿的染色体异常率25.9%(48/185)高于对照组2.7%(5/185),胎儿CHD混合型组的染色体异常率50.0%(25/50)高于简单型组17.8%(23/135),合并心外畸形组的染色体异常率46.6%(34/73)高于无心外畸形组12.5%(14/112)。结论超声心动图检查是胎儿CHD检查的首选。当CHD合并多系统畸形时,胎儿染色体异常风险显著增加,应建议行染色体核型检测。

Object To study the relationships between fetal congenital heart disease（CHD）diagnosed by prenatal color Doppler echocardiography（CDE）and their chromosome abnormalities（CAB）.Methods Totally 185 fetuses with CHD diagnosed by CDE coupled with chromosome examination were enrolled as the case group,and another 185 fetuses without CHD were regarded as the control group.The CHD was divided into simple and complicated types,with or without extra-cardiac malformations（ECM）.The incidence of CHD and CAB were stastically compared for the four groups.Results The incidence of CAB in case group（25.9%,48/185）was significantly higher than that of control group（2.7%,5/185）.The incidence of CAB in complicated CHD（50%,25/50）was more than that in simple CHD type（17.8%,23/135）,and the incidence in CHD with ECM（46.6%,34/73）was also significantly higher than that in CHD without ECM（12.5%,14/112）.Conclusion The CDE method is the first choice of examination for fetal CHD.When CHD cases are with multi-malformations,they have higher risk of CAB,chromosome examination should be recommended for them.