Ductus Venosus Agenesis and Portal System Anomalies—Association and Outcome

SIMPLE SUMMARY: We have limited information regarding the association and implications of portal venous system (PVS) anomalies in agenesis of ductus venosus (ADV) cases. Few cases of PVS malformations have been reported during fetal life apart from ADV. To the best of our knowledge, this is the first study designed to evaluate the prenatal incidence of ADV and PVS anomalies in the second- and third-trimester anomaly scan experience of a tertiary unit. PVS anomalies were found more frequently than previously reported. We found PVS anomalies in one-third of the ADV cases, while ADV was present in 85.7% of the PVS anomalies. Our data suggest that PVS development is ductus venosus-dependent. PVS anomalies worsened the outcome of ADV cases in our study, and the vast majority of ADV cases that were associated with a normal PVS presented a favorable outcome. The presence of additional fetal anomalies is the best predictor for the outcome of DVA cases. However, an easier evaluation of PVS represents a powerful predictor for ADV cases and addresses the long-term prognosis. ABSTRACT: To evaluate the prenatal diagnosis of agenesis of ductus venosus (ADV) and portal venous system (PVS) anomalies and describe the outcome of these cases, either isolated or associated. We evaluated the intrahepatic vascular system regarding the presence of normal umbilical drainage and PVS characteristics in the second and third trimester of pregnancy. The associated anomalies and umbilical venous drainage were noted. Follow-up was performed at six months follow-up. Ultrasonography was performed in 3517 cases. A total of 19 cases were prenatally diagnosed: 18 ADV cases, seven abnormal PVS cases, and six associations of the two anomalies. We noted an incidence of 5.1‰ and 1.9‰ for ADV and PVS anomalies, respectively. Out of the 18 ADV cases, 27.7% were isolated. Five cases (26.3%) presented genetic anomalies. PVS anomalies were found in 33.3% of the ADV cases. ADV was present in 85.7% of the PVS anomalies. DV and PVS abnormalities were found with a higher than reported frequency. Normal DV is involved in the normal development of the PVS. Additional fetal anomalies are the best predictor for the outcome of ADV cases. Evaluation of PVS represents a powerful predictor for ADV cases and addresses the long-term prognosis.