胎儿先天性心脏病产前诊断与临床意义

Prenatal diagnosis and clinical significance of fetal congenital heart disease

先天性心脏病是最常见的出生缺陷之一。孕早期先天性心脏病筛查的方法主要有颈后透明层厚度测量、静脉导管血流测量以及直接进行胎儿超声心动图检查等。孕中期绝大部分的胎儿心脏病可以直接通过胎儿超声心动图检查获得诊断，除心脏解剖结构畸形外，心律失常的诊断以及心功能的评估也是重要检查内容。加强先天性心脏病的相关基因研究，也能够为产前诊断提供可靠依据。对胎儿先天性心脏病进行筛查干预，能够帮助医生早期制定临床决策，缓解家庭负担，有明显的社会效益。

Congenital heart disease is one of the most common birth defects. In early pregnancy,congen- ital heart disease screening methods mainly include neck translucency thickness measurement, ductus venosus flow measurement and fetal echocardiography. In the second trimester fetal heart disease most directly by fetal ul- trasound examination for diagnosis of heartbeat, besides cardiac anatomic abnormalities, arrhythmia the diagnosis and assessment of heart function also are the important examination content. Focusing on more congenital heart disease related gene researches can provide reliable basis for prenatal diagnosis. Through the fetal congenital heart disease screening intervention, physicians can help early formulation of clinical decision making, alleviate the burden of the families, which has obvious social and economic benefits.