Ductus Venosus Agenesis: A Case Report and Review of the Literature

Ductus venosus agenesis (DVA) is a rare congenital anomaly of the fetal circulation defined by an absence of the physiological shunt connecting the hepatic-systemic system with the portal-umbilical venous system. Diagnosis relies on ultrasound and color Doppler imaging, mainly during the second trimester. We report the case of a fetus in a 34-year-old patient in whom DVA was diagnosed at 30 weeks gestation. Ultrasound revealed an extrahepatic umbilical vein draining directly into the right atrium that was associated with cardiomegaly. Molecular karyotyping was normal. Weekly ultrasound examinations demonstrated stability of the cardiomegaly during the remainder of the pregnancy. Neonatal outcomes were favorable, with good postnatal adaptation. DVA is a rare anomaly with variable prognosis determined mainly by the venous drainage subtype, the presence of associated malformations or genetic abnormalities, and the occurrence of intrauterine complications. Associated malformations, particularly cardiac anomalies, may be present. Given the possible association of DVA with genetic abnormalities, prenatal genetic testing may be considered. Potential complications such as cardiomegaly, fetal hydrops, or cardiac dysfunction highlight the importance of close echographic surveillance. Perinatal management of DVA requires an individualized approach that integrates clinical, sonographic, and genetic findings, with close ultrasound monitoring and planned delivery in a specialized center to optimize obstetric management, parental counseling, and neonatal outcomes.