Fetal pulmonary atresia with ventricular septal defect: echocardiographic findings, associated anomalies and chromosomal characteristics

Abstract

Objective To analyze the echocardiographic findings, associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect (PA/VSD). Methods The echocardiographic data and follow-up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to March 2018 in the consultation center of fetal heart disease in maternal-fetal medicine in Anzhen hospital. Of all the fetuses, 59 cases (0.19%) had PA/VSD. The echocardiographic findings, associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD. Based on whether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries (MAPCAs) or not, the PA-VSD was classified into type A, type B, and type C. Results A large ventricular defect was demonstrated in five-chamber view with 61.7% of the mean ratio of the aortic overriding. Other fetal echocardiographic features of all the 59 fetuses with PA/VSD included: the right aortic arch (n=19), reversal flow in the ductus arteriosus (n=40), MAPCAs (n=24). The classification of the PA/VSD included: type A (n=35), type B (n=5) and type C (n=19). Associated anomalies: persistent left superior vena cava (n=13), anomalous pulmonary vein connection (n=5), complete atrioventricular septal defect (n=5); single umbilical artery (n=3), right atrial isomerism (n=3). Of all the 30 cases performed chromosomal test, 3 cases had aneuploidy and 7 cases had microdeletion of chromosome. Conclusions The fetal echocardiographic findings of the PA/VSD are characteristic. For prenatal diagnosis of PA/VSD, the type of PA/VSD should be defined and chromosomal test should be performed, which can be helpful for prenatal consulting. Key words: Echocardiography; Heart septal defect, ventricular; Pulmonary atresia; Prenatal diagnosis; Chromosomal aberrations