Prevalence of Associated Extracardiac Anomalies in Prenatally Diagnosed Congenital Heart Diseases

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2021 Mar 18

PMID 33735284

Citations 4

Authors

Chi-Son Chang

Sir-Yeon Hong

Seo-Yeon Kim

Yoo-Min Kim

Ji-Hee Sung

Suk-Joo Choi

Soo-Young Oh

Cheong-Rae Roh

Jinyoung Song

June Huh

I-Seok Kang

Affiliations

Soon will be listed here.

Abstract

Objective: 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.

Methods: 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.

Results: 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%).

Conclusion: ECM, chromosomal anomaly, and 22q11.2 microdeletion have different prevalence according to the type of CHD.

Citing Articles

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Noncardiac anomalies in children with congenital heart disease.

Huang X, Gao Y, Chen W, Sheng W, Huang G Front Cardiovasc Med. 2023; 10:1293210.

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Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis.

Wang H, Lin X, Lyu G, He S, Dong B, Yang Y Arch Gynecol Obstet. 2023; 308(3):797-811.

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