The prenatal diagnosis of aortopulmonary window by fetal echocardiography.

OBJECTIVE: The purpose of this study was to analyze the fetal echocardiographic features and the associated anomalies of prenatal aortopulmonary window (APW).

METHODS: We retrospectively reviewed the fetal echocardiographic database (n = 24 000) in our hospital between May 2012 and December 2017. The general clinical information, fetal echocardiographic features, and the associated anomalies in patients with APW were analyzed. Four patients had undergone whole genome sequencing using fetal tissues.

RESULTS: Six cases of APW confirmed by autopsy were identified in our fetal echocardiographic database. On the three-vessel view, a communication between the pulmonary artery trunk and ascending aorta was noted above the two semilunar valves in all cases. The most frequent type of APW among the cases was type II, and all cases were associated with other cardiac anomalies. No pathogenic or suspected pathogenic copy number variation or insertion-deletions were detected in this series.

CONCLUSION: Prenatal diagnosis of APW is feasible, which is helpful during prenatal consultations, so that parents can make better decisions regarding postpartum treatment options and pregnancy outcomes.