Abstract:Objective To investigate the characteristics of fetal congenital heart disease (CHD) and analyze its relationship with chromosome abnormalities. Methods The clinical data of 108 fetuses with CHD who went to the Wuxi Maternal and Child Health Hospital due to high-risk factors and received invasive prenatal diagnosis were collected from January 2016 to January 2021. All fetuses received karyotype analysis, of which 100 fetuses received chromosome microarray analysis (CMA). Results Among 108 CHD fetuses, 80 cases (74.1%) were found to have chromosome abnormalities, including 61 cases (56.5%) of chromosome aneuploidy, 2 cases (1.9%) of sex chromosome abnormalities, 11 cases (10.2%) of chromosome structure abnormalities and 6 cases (5.6%) of pathogenic copy number variation (CNV). There were 43 cases of simple CHD and 65 cases of complex CHD. The detection rate of chromosome abnormalities in simple CHD was significantly higher than that in complex CHD (93.0% vs 61.5%, P<0.01). There were 73 cases of CHD with extracardiac malformations and 35 cases without extracardiac malformations. The detection rate of chromosome abnormalities in CHD with extracardiac malformations was significantly higher than that in CHD without extracardiac malformations (93.2% vs 34.3%, P<0.01). The detection rate of chromosome abnormalities in simple CHD with extracardiac malformation was significantly higher than that in complex CHD without extracardiac malformation (97.2% vs 37.9%, P<0.01). Conclusion Fetal CHD is often accompanied by chromosomal abnormalities, and the rate of chromosomal abnormalities increases significantly when combined with extracardiac malformations. Complete endocardial cushion defect, ventricular septal defect and tetralogy of Fallot with chromosomal abnormalities are common. CMA can find additional CNV, improve the genetic etiology diagnosis rate of CHD, and help clinicians to carry out appropriate genetic counseling on the etiology and prognosis of CHD.