Absent pulmonary valve syndrome - diagnosis, associations, and outcome in 71 prenatally diagnosed cases

Objective To analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included. Method Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group (IPCCG). Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016. Results The cohort included 71 cases, 59 with TOF/APVS and 12 with APVS/IVS. In 18.3% of cases diagnosis was achieved within first trimester. Association with hydrops fetalis was high within first trimester (69%). No fetus with known outcome survived after first trimester diagnosis. Karyotype anomalies occurred in 45% of cases with known karyotype. Intrauterine fetal demise occurred in 14.3%. Overall survival after initial diagnosis in the total cohort was 28.1% (28.8% TOF/APVS, 25.0% APVS/IVS). Survival to birth was 50% in TOF/APVS and 44.4% in APVS/IVS. Survival of subjects born alive beyond neonatal period was 84.6% in TOF/APVS and 100% in APVS/IVS. Conclusion Diagnosis of APVS is feasible within first trimester. Outcomes remain guarded, especially if first trimester diagnosis is included into the analysis due to associated karyotypic anomalies, the presence of hydrops fetalis and patent Ductus arteriosus (DA).