目的

对来源于中国胎儿超声筛查大数据的胎儿室间隔缺损（VSD）发病率、相关特征及随访结果进行分析。

方法

于2011 年1 月1 日至2013 年12 月31 日在接受规范产前超声培训并取得产前诊断资质的医院进行胎儿先天性心脏病（CHD）的调查。全国31 个省、自治区、直辖市92 家医院759 名医师参与本研究项目。依据相关实践指南规范以及逐级转诊标准进行胎儿心脏筛查，采用项目组开发的“数据调查软件”系统录入上传CHD 胎儿及母亲的数据信息。对产前筛查数据中的VSD 相关数据进行汇总分析，得出VSD 发病率，对VSD 相关特征及随访结果进行分析。

结果

本项目共计2 452 249 名孕妇接受了胎儿超声筛查，诊断CHD 18 171 例。本研究完成的筛查病例中，诊断为VSD 的胎儿有4345 例（4345/18 171，23.9%）。VSD 发病率为17.72/万（4345/2 452 249，95%CI：17.20 ～18.25），在36 种CHD 亚病种中发病率最高。将全国31 个省、自治区、直辖市分为6 个区域，发病率最高的是东部地区（20.59/万，854/414 815），发病率最低的是西北地区（8.85/万，109/123 189），各区域发病率差异存在统计学意义（χ²=166.71，P＜0.01）。4345 例VSD 病例中，单一VSD 3171 例，占比72.98%（3171/4345），合并心外畸形的共1015 例，占比23.36%（1015/4345）。合并心外畸形的类型排在前三位的依次为中枢神经系统畸形427 例，单脐动脉及脐带囊肿241 例，颅面部畸形219 例。共534 例VSD 胎儿完成了染色体检测，发现142 例（142/534，27%）染色体异常，其中最常见的为21-三体综合征31 例、18-三体综合征59 例。随访4345 例VSD 胎儿，出生2835 例，终止妊娠674 例，失访836 例。最终诊断与产前超声诊断的符合率为89.60%（3144/3509）。

结论

本研究获得了中国VSD 的发病率及全国6 个区域的地区发病率，以及VSD 合并心外畸形的病种、染色体异常发生率、生后随访与诊断符合率，为深入开展胎儿VSD 研究提供了基础数据支持。

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.