Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Department of Obstetrics and Gynecology, Chung-Ang University College of Medicine, Seoul, Korea.
PLoS One. 2021 Mar 18;16(3):e0248894. doi: 10.1371/journal.pone.0248894. eCollection 2021.
To investigate the prevalence of extracardiac anomalies (ECA) in prenatally diagnosed congenital heart diseases (CHD), and to provide more information for counseling of women with prenatally diagnosed fetal CHD.
This was a retrospective cohort study of 791 cases of fetal CHD diagnosed by prenatal ultrasound from January 2005 to April 2018. Associated ECAs included extracardiac structural malformation (ECM), chromosomal anomaly, and 22q11.2 microdeletion. CHD was classified into 10 groups according to a modified anatomic and clinical classification of congenital heart defects.
The overall prevalence of ECA in our CHD cohort was 28.6% (226/791): ECM, 25.3%; chromosomal anomaly, 11.7%; and 22q11.2 microdeletion, 5.5%. For those with ECM, ventricular septal defect (VSD) had the highest prevalence (34.5%), followed by anomalies of atrioventricular junctions and valves (28.8%) and heterotaxy (26.9%). For those with chromosomal anomaly, anomalies of atrioventricular junctions and valves had the highest prevalence (37.5%), followed by anomalies of atria and interatrial communications (25.0%) and VSD (22.9%). 22q11.2 microdeletion was detected only in those with anomalies of extrapericardial arterial trunks (14.3%) or ventricular outflow tracts (6.4%).
ECM, chromosomal anomaly, and 22q11.2 microdeletion have different prevalence according to the type of CHD.
探讨产前诊断先天性心脏病（CHD）患者中合并的心脏外异常（ECA）的发生率，为产前诊断胎儿 CHD 患者的咨询提供更多信息。
这是一项回顾性队列研究，纳入了 2005 年 1 月至 2018 年 4 月期间经产前超声诊断的 791 例胎儿 CHD 病例。合并的心脏外异常包括心脏外结构畸形（ECM）、染色体异常和 22q11.2 微缺失。根据先天性心脏病的改良解剖和临床分类，将 CHD 分为 10 组。
在我们的 CHD 队列中，ECA 的总体发生率为 28.6%（226/791）：ECM 为 25.3%，染色体异常为 11.7%，22q11.2 微缺失为 5.5%。对于 ECM 患者，室间隔缺损（VSD）的发生率最高（34.5%），其次是房室结和瓣膜异常（28.8%）和异位（26.9%）。对于染色体异常患者，房室结和瓣膜异常的发生率最高（37.5%），其次是心房和房间隔异常（25.0%）和 VSD（22.9%）。22q11.2 微缺失仅在合并心脏外动脉干（14.3%）或心室流出道（6.4%）异常的患者中检出。
根据 CHD 的类型，ECM、染色体异常和 22q11.2 微缺失的发生率不同。
