Roland Axt-Fliedner1, Andrii Kurkevych2, Maciej Slodki3, Maria Respondek-Liberska3, Katarzyna Zych-Krekora3, Rüdiger Stressig4, Jochen Ritgen4, Guiseppe Rizzo5, Martin Krapp6, Luc de Catte7, Gunther Mielke8, Stephan Bosselmann8, Mathias Meyer-Wittkopf9, Andreea Kawecki1, Aline Wolter1, Marios Mamalis1, Christian Enzensberger1. 1. Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University Hospital Giessen and Marburg, Campus Giessen, Justus-Liebig University, Giessen, Germany. 2. Fetal Cardiology Unit, Ukrainian Children's Cardiac Center, Kyiv, Ukraine. 3. Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland. 4. Prenatalplus.de, Köln, Germany. 5. Department Obstetrics and Gynecology, Università di Roma Tor Vergata, Rome, Italy. 6. Center for Prenatal Medicine, Amedes Experts, Hamburg, Germany. 7. Department of Obstetrics and Gynecology, Fetal Medicine, University Hospitals Leuven, Leuven, Belgium. 8. Praenatalzentrum Stuttgart, Stuttgart, Germany. 9. Department of Gynecology and Obstetrics at the Health Center Rheine, Mathias Spital, Rheine, Germany.
Abstract
OBJECTIVE: The objective of this study was 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. 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 and 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 because of associated karyotypic anomalies, the presence of hydrops fetalis, and patent ductus arteriosus.
OBJECTIVE: The objective of this study was 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. 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 and 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 because of associated karyotypic anomalies, the presence of hydrops fetalis, and patent ductus arteriosus.