Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome

Abstract

Objective: To assess the accuracy of prenatal diagnosis, the association with genetic and extracardiac anomalies, and outcome in fetuses with isolated pulmonary atresia with ventricular septal defect (PA-VSD). Design and setting: Retrospective study in a tertiary centre for fetal cardiology. Patients and outcome measures: Echocardiographic video recordings of 27 consecutive fetuses with PA-VSD were reviewed for: (1) intracardiac anatomy; (2) presence of confluence and size of the branch pulmonary arteries; (3) source of pulmonary blood supply; and (4) side of the aortic arch. Postmortem and postnatal data were added. Karyotyping was performed in 25 patients and, in 23 of these, fluorescent in situ hybridisation to identify 22q11.2 deletion. Results: PA-VSD was correctly diagnosed in 19 of 21 patients (90%) with postnatal or autopsy confirmation of diagnosis. Central pulmonary arteries were correctly identified in 79% (15/19), the source of pulmonary blood supply in 62% (13/21) and major aortopulmonary collateral arteries in 44% (4/9). Aneuploidy was detected in 4 of 25 patients (16%) and 22q11.2 deletion in 6 of 23 patients (26%). Five of 27 patients (19%) had extracardiac anomalies. Eleven pregnancies were interrupted. Eleven of 16 liveborn babies survived. Neonatal survival was 15 of 16 (94%, 95% confidence interval (CI) 70 to 100), one-year survival was 9 of 12 (75%, 95% CI 43 to 95) and two-year survival was 5 of 9 (56%, 95% CI 21 to 86). Conclusion: PA-VSD can be diagnosed by fetal echocardiography with a high degree of accuracy. However, it can be difficult to determine the morphology of the central pulmonary arteries and to locate the source of pulmonary blood supply. In most liveborn infants, complete surgical repair can be achieved.

Diagnosis and Treatment of Fetal Cardiac Disease

“…In 1 fetal series, 15% to 50% of fetuses diagnosed with TOF had a 22q11 deletion. 384 Similar findings are true of truncus arteriosus, 385 TOF with absent pulmonary valve, 386 and TOF with pulmonary atresia 387 at 32%, 26%, and 25%, respectively. An isolated right aortic arch was found in 10% of fetuses with 22q11 deletion.…”

Accuracy of Fetal Echocardiography in the Differential Diagnosis between Truncus Arteriosus and Pulmonary Atresia with Ventricular Septal Defect

“…Our overall diagnostic accuracy was 81%, which is inside the range of 77-96% previously reported [1,2,3,4,18,19], although the GA at diagnosis was lower in our series. The accuracy in the CAT group was 80%, with the most common form corresponding to subtype 1 (fig.…”

“…In contrast, the DA was patent in 70% of the fetuses with a PA-VSD, including 4 cases with a mixed pulmonary blood supply. It is noteworthy that there was a relatively high frequency of mixed pulmonary blood supply in the PA-VSD group, which reached 20% in our cases, suggesting that the presence of MAPCAs accompanying a functional DA might be more common than previously reported [2,20,21]. Moreover, in the PA-VSD group, the source of pulmonary blood supply was correctly defined in all cases except in case 27, which also represents a high level of accuracy for predicting the postnatal outcome and for discussing the different options of postnatal treatment with parents.…”

“…Recent advances in the fields of interventional cardiology and cardiovascular surgery have increasingly allowed more patients to achieve a biventricular circulation [22], by different approaches [23,24,25] that are basically intended to complete the unifocalization of the supplying MAPCAs, with or without incorporation of the central pulmonary arteries, if present, and concomitant or delayed closure of the VSD. On the other hand, previous studies [2,26,27] have demonstrated that fetuses with a 22q11.2 microdeletion have more severely hypoplastic central pulmonary arteries and more branching anomalies, which determines a poorer postnatal outcome. Thus, a directed study in order to rule out the presence of MAPCAs is another key issue when evaluating PA-VSD cases in prenatal life.…”

“…Prenatal detection of conotruncal anomalies has greatly improved in the last years [1,2,3,4]. Nonetheless, a differentiation between conotruncal anomalies may be difficult, with a particular potential for confusion between truncus arteriosus communis (CAT) and pulmonary atresia with ventricular septal defect (PA-VSD).…”