Prevalence of associated extracardiac anomalies in prenatally diagnosed congenital heart diseases

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.

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

“…A further 74 articles were secondarily excluded from the quantitative analysis. Of these, 38 did not provide quantitative data [ 6 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 ], in 22 articles it was not possible to infer a quantitative analysis of incremental yield of CMA over standard karyotyping [ 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 …”

Integration of Prenatal Cardiovascular Magnetic Resonance Imaging in Congenital Heart Disease

“…Because many infants (13%–56.6%) with CHD have extracardiac anomalies, performing volumetric imaging with high spatial resolution and a large field of view can facilitate early diagnosis of many associated noncardiac anomalies. 8 , 28 , 29 , 30 , 31 CMR is also quite safe. 32 , 33 A comparison of ultrasonography, echocardiography, and CMR is summarized in Table 2 .…”

Health Equity and Policy Considerations for Pediatric and Adult Congenital Heart Disease Care among Minoritized Populations in the United States

“…These disabilities may include difficulties with hearing, vision, cognition, mobility, self-care, and the ability to live independently [67]. Data show that 25% of the CHD population have extracardiac structural malformations [68]. In childhood, those with CHD have a twofold higher risk for developmental disability, even if they have simple CHD [69].…”