Absent Pulmonary Valve Syndrome: Prenatal Diagnosis, Association and Outcome

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 und echocardiographic databases of nine referral centers were rewiewed from 2012-2016. Various clinical und echocardiographic parameters were retrieved. Results: The cohort included 71 cases, 59 with TOF/APVS and twelve with APVS/IVS. In 3% of cases the diagnosis was achieved within the first trimester. Association with hydrops fetalis was high within the first trimester (69%). No fetus with known outcome survived after first trimester diagnosis. Karyotype anomalies occured in 44% with microdeletion 22q11.2 beeing the most frequent (21%). Intrauterine fetal demis (IUD) occured in 14.5%. Pulmonary artery dimensions were increased in all cases of TOF/IVS. Survival to birth was 49.1% in TOF/APVS und 37.5% in APVS/IVS. Survival beyond the neonatal period in actively managed neonates was 40% in TOF/APVS and 37.5% in APVS/IVS. Conclusion: Diagnosis of APVS ist feasible within the first triester. Outcomes remain guarded, especially if first trimester diagnosis ist included into the analysis due to associated karyotypic anomalies and the presence of hydrops fetalis