Objective
To investigate the incidence, associated characteristics, and postnatal follow-up results of ventricular septal defect (VSD) detected in a national ultrasound screening program for fetal congenital heart defects (CHDs) in China.
Methods
From January 1, 2011 to December 31,2013, a ultrasound screening for CHDs was investigated in 92 hospitals across 31 provinces/municipalities/autonomous regions in China.A total of 759 physicians in these hospitals, who had undergone standardized prenatal ultrasound training and obtained qualiflcations for prenatal diagnosis, participated in this research project.Fetal ultrasound screening was performed in accordance with relevant practice guidelines and hierarchical referral criteria.Data on fetuses with CHDs and their mothers were collected and uploaded using a “data investigation software” system developed by the research group.The incidence, associated characteristics, and follow-up outcomes of VSD was analyzed based on the aggregated data from 92 hospitals during the fetal cardiac screening.
Results
A total of 18 171 fetal CHD cases were identified from 2 452 249 pregnancies.Among these cases, 4345 fetuses were diagnosed with ventricular septal defect(VSD), accounting for 23.9% of all CHD cases (4345/18 171).The incidence of VSD was 17.72 per 10 000(4345/2 452 249; 95% confldence interval:17.20-18.25), which was the highest among the 36 subtypes of CHD.The 31 provinces, municipalities, and autonomous regions in China were divided into six geographical regions.The highest incidence of fetal VSD was found in the eastern region (20.59 per 10 000; 854/414 815),while the lowest incidence occurred in the northwestern region (8.85 per 10 000; 109/123 189).There was a statistically signiflcant difference in incidence among the six geographical regions (χ² = 166.71, P<0.01).Among the 4345 VSD cases, isolated VSD was identifled in 3171 cases (72.98%), while 1015 cases (23.36%)were associated with extracardiac malformations.The top three extracardiac malformations were central nervous system anomalies (427 cases), single umbilical artery and umbilical cord cysts (241 cases), and craniofacial anomalies (219 cases).A total of 534 VSD fetuses underwent genetic study for chromosomal abnormality, with 142 cases (27%) showing chromosomal abnormalities.The most common abnormalities were trisomy 21 (31 cases) and trisomy 18 (59 cases).Postnatal follow-up was carried out for the fetal VSD cases, with 2835 fetuses born alive, 674 cases terminated, and 836 cases lost to follow-up.The concordance rate between prenatal screening results and postnatal veriflcation was 89.60% (3144/3509).
Conclusion
This study provides the incidence of VSD in China, including the regional incidence in the six geographical regions, as well as types of extracardiac malformations associated with VSD, the incidence of chromosomal abnormalities, and the concordance rate between prenatal screening results and postnatal veriflcation.These flndings offer valuable foundational data for further research on fetal VSD.