Prenatal diagnosis of pulmonary atresia with intact ventricular septum: a single-center study in China

Abstract

Objectives: To evaluate the efficacy of prenatal ultrasound in diagnosing pulmonary atresia with intact ventricular septum (PA/IVS).

Methods: This retrospective study analyzed 48 cases of PA/IVS at the Fujian Maternity and Child Health Hospital between January 2013 and December 2023. Prenatal ultrasound was used to characterize and classify the features of PA/IVS. Pregnancy outcomes were followed up, and the results were compared with post-termination pathological anatomical findings or postnatal imaging. This study aims to enhance the understanding of PA/IVS and improve the accuracy of its prenatal diagnosis.

Results: Among the 48 PA/IVS cases, four were diagnosed during early pregnancy and 44 during mid-to-late pregnancy. In the mid-to-late pregnancy group, there were 29 cases of type I (TV-Z scores ranging from - 1.77 to 5.22), 10 cases of type II (TV-Z scores ranging from - 3.50 to -2.06), and five cases of type III (TV-Z scores ranging from - 4.29 to -7.41). The cohort included 41 singleton pregnancies and seven twin pregnancies. Ventriculo-coronary artery communication (VCAC) was observed in 19 cases. Additional abnormalities included Ebstein's anomaly (EA) in three cases, restricted opening of the foramen ovale in one case, increased inner diameter of the foramen ovale in one case, reversal or deepening of the a-wave of the ductus venosus in six cases, and umbilical vein pulsation in one case. Genetic testing (amniocentesis, NIPT, or SNP-array) was performed in 19 cases, with one case revealing a genomic copy number deletion in the q22.3 region of chromosome 21. Pregnancy outcomes included 41 terminations (five with pathologic dissection or vascular casting), five live births, one selective reduction, and one intrauterine death.

Conclusion: Fetal echocardiography is an effective tool for diagnosing PA/IVS. While PA/IVS can be diagnosed in early gestation, it remains diagnostical challenging. Given the progressive nature of PA/IVS in utero, sequential ultrasound examinations during the second and third trimesters are essential for monitoring disease progression and hemodynamic changes. Additionally, a comprehensive evaluation for associated intracardiac and extracardiac anomalies should be systematically conducted throughout the pregnancy.

Keywords: Fetus; Pregnancy outcome; Prenatal ultrasound; Pulmonary atresia with intact ventricular septum.

Fig. 1

Flowchart of the cohort study

Fig. 2

Prenatal ultrasound and postmortem findings in a 13-week PA/IVS fetus: (A) Four-chamber view demonstrating hypoplastic right ventricle with thickened wall; (B) Three-vessel-trachea (3VT) view showing pulmonary artery (PA) significantly smaller than aorta; (C) Retrograde ductus arteriosus (DA) flow with smaller diameter than aortic flow; (D) Multiple bidirectional turbulent flows within hypertrophied RV myocardium; (E) Specimen frontal view revealing hypoplastic RV (apical portion formed by left ventricle) with dilated epicardial coronary arteries; (F) Anatomical confirmation of marked hypoplastic PA compared to aorta

Fig. 3

Imaging and pathologic features of a PA/IVS fetus (23^+ 3 weeks). (A) Four-chamber view showing hypoplastic right ventricle, dilated left atrium and left ventricle, and thickened right ventricular wall; (B) Absence of significant tricuspid regurgitation; (C) Small pulmonary valve annulus with tortuous ductus arteriosus (DA); (D) Retrograde DA flow into PA; (E-G). Color and spectral Doppler demonstrating VCAC. (H). Anterior specimen view revealing multiple RV surface VCACs

Fig. 4

Prenatal and postnatal imaging findings of PA/IVS. (A) Prenatal ultrasound demonstrating severe regurgitation (large regurgitant jet); (B) Spectral doppler showing peak regurgitant velocity (416 cm/s). (C) Retrograde ductus arteriosus (DA) flow into pulmonary artery. (D-F). Postnatal echocardiography confirming prenatal findings with consistent anatomical and hemodynamic features