Objective To investigate the abnormal sonographic phenotypes and genetic testing of Ventricular septal defect (VSD) in fetus, and to provide information for prenatal counseling and prognosis assessment. Methods From November 2016 to December 2018, 234 fetus with VSD were diagnosed by echocardiography. Amniocentesis or cord blood puncture was voluntarily selected when discover ultrasound abnormalities for karyotype analysis, chromosome microarray analysis (CMA),and whole exome sequencing (WES). WES/Whole genome sequencing (WGS) was performed by obtain fetal umbilical cord tissue and deltoid. Results 1.Of the 77 VSD fetuses, the proportion of isolated VSD fetuses was the highest, 53.2%(41/77), followed by VSD combined with intracardiac and extracardiac malformations 20.8% (16/77) , VSD combined with intracardiac malformation 18.2% (14/77), VSD combined with extracardiac malformation 7.8% (6/77). 2. Ultrasound phenotypic abnormalities: 22 cases (28.6%) with extracardiac abnormalities, the most was minorabnormalities of ultrasound; 30 cases (39%) with intracardiac abnormalities, all of which were conotruncal defect.3. There were 16 cases of genetic abnormalities, and the detection rate was 20.8%: the proportion of VSD combined with intracardiac and extracardiac malformations was the highest, 43.8% (7/16), followed by VSD with intracardiac malformation 35.7%(5/14), VSD with extracardiac malformation 33.3%(2/6), isolated VSD 4.9%(2/41). Using CMA and WES techniques, 12 additional abnormalities were detected in karyotype normal VSD fetuses: 8 cases of pathogenic CNVs (6 cases of microdeletions, 2 cases of microduplication), 4 cases of monogenic diseases, and the molecular diagnostic rates were improved respectively 15.1%, 7.5%.Conclusions Intracardiac and extracardiac abnormalities should be carefully examined when VSD was detected in fetus; CMA and WES can improve the detection rate of VSD fetal genetic abnormalities, and provide more information for prenatal evaluation and prognostic counseling.