Abstract: Congenital heart disease（CHD） is a common birth defect caused by both environmental and genetic factors，of which genetic factors play a major role. G-banding karyotype detection，fluorescence in situ hybridization，and chromosomal microarray analysis（CMA） are common genetic diagnostic techniques. In recent years，CMA has gradually become the first-line method for prenatal diagnosis of fetal CHD. One of the main advantages of CMA is its ability to precisely define unbalanced regions，to definitively diagnose microdeletion/microduplication syndromes，and to detect a large number of copy number variations of unknown clinical significance. When detecting total copy number variation in prenatal samples，copy number variation detection is characterized by high reliability，accuracy and reproducibility. However，in many cases，the impact of copy number variation on cardiac development in patients with CHD remains unclear. This article will focus on chromosomal microarray analysis technology，and review its diagnostic significance and prognostic guidance in fetal CHD.

Key words: congenital heart disease, prenatal diagnosis, chromosomal microarray analysis, copy number variation, fetal

摘要： 先天性心脏病（congenital heart disease，CHD）是一种常见的出生缺陷，是由环境和遗传因素共同引起，其中遗传因素发挥着主要作用。G显带核型检测、荧光原位杂交，及染色体微阵列分析（CMA）技术是目前常见的基因诊断技术，近年来，CMA技术已逐渐成为产前诊断胎儿CHD的一线方法。CMA的主要优点之一是它能够精确定义不平衡区域，可明确诊断微缺失或微重复综合征，同时也可检测到大量的临床意义不明的拷贝数变异。在检测产前样本中总拷贝数变异时，拷贝数变异检测具有高可靠性、准确性和再现性的特点。但在许多情况下，拷贝数变异对CHD患儿心脏发育的影响尚不清楚。该文将以染色体微阵列分析技术为重点，对其在胎儿CHD的诊断意义及预后指导作一综述。

关键词: 先天性心脏病, 产前诊断, 染色体微阵列分析, 拷贝数变异, 胎儿