目的探讨先天性心脏病胎儿的染色体异常情况。方法对325例2006年至2014年中晚期孕妇超声筛查胎儿心脏异常者,行羊水或脐血样本G显带染色体核型分析。结果 325例中染色体异常率为15.1%(49/325)。其中三体征36例最多(73.5%),9号染色体倒位4例(18.4%),染色体平衡易位3例(6.1%)等。有合并心外异常者,染色体异常率60.3%(35/58);无合并心外异常者染色体异常率仅5.2%(14/267)。结论先天性心脏病患儿染色体畸变为主要病因,心外畸形者合并染色体异常的概率更高。染色体检测结果应作为判断是否保留胎儿与是否手术矫正的指征。 Objective To investigate the chromosomal abnormalities in congenital heart disease fetus. Methods 325 cases of mid-late 2006 to mid-late pregnant women ultrasound screening of fetal heart abnormalities, amniotic fluid or umbilical cord blood samples G-banding karyotype analysis. Results The chromosomal abnormalities in 325 cases were 15.1% (49/325). There were 36 patients with trismus (73.5%), 4 (18.4%) with chromosome 9 inversions and 3 (6.1%) with chromosome-balanced translocations. In those with abnormal heart abnormalities, the rate of chromosomal abnormalities was 60.3% (35/58). The rate of chromosomal abnormalities without combined cardiac abnormalities was only 5.2% (14/267). Conclusions Chromosomal aberrations in children with congenital heart disease are the main causes, and those with extra-cardiac malformations have a higher probability of chromosomal abnormalities. Chromosome test results should be used to determine whether to retain the fetus and whether surgical indications.