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.
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.
Authors: Fernando Felix Dulgheroff; Alberto Borges Peixoto; Caetano Galvão Petrini; Taciana Mara Rodrigues da Cunha Caldas; Daniela Rocha Ramos; Fernanda Oliveira Magalhães; Edward Araujo Júnior Journal: Sao Paulo Med J Date: 2019 Sep-Oct Impact factor: 1.044
Authors: Sjoerd Nell; Camiel A Wijngaarde; Lourens R Pistorius; Martijn Slieker; Henriette ter Heide; G T R Manten; Matthias W Freund Journal: Fetal Diagn Ther Date: 2013-03-20 Impact factor: 2.587
Authors: Anna Wozniak; Danuta Wolnik-Brzozowska; Marzena Wisniewska; Renata Glazar; Anna Materna-Kiryluk; Tomasz Moszura; Magdalena Badura-Stronka; Joanna Skolozdrzy; Maciej R Krawczynski; Joanna Zeyland; Waldemar Bobkowski; Ryszard Slomski; Anna Latos-Bielenska; Aldona Siwinska Journal: BMC Pediatr Date: 2010-12-06 Impact factor: 2.125