Impact of the type of ductus venosus agenesis and the presence of associated anomalies on prognosis

Abstract

Objective: The Ductus Venosus (DV) connects the umbilical vein to the inferior vena cava. With a portocaval pressure gradient, the well-oxygenated blood in the ductus venosus accelerates towards the left sidewall of the inferior vena cava, directing the blood preferentially towards cephalic and coronary circulation through the foramen ovale (1). DV serves as a shunt, expanding to protect the heart and brain in hypoxic conditions. Ductus Venosus Agenesis (DVA) is a rare congenital abnormality with a prevalence of 0.03-0.07%. The type of DVA, along with any additional anatomical or chromosomal anomalies in fetuses with DVA, significantly affects the postnatal prognosis. Some fetuses with DVA develop normally, while others may experience growth retardation, heart defects, or other complications. In this study, we aimed to evaluate the frequency of associated anomalies in DVA cases, examine the impact of each type of DVA (intrahepatic and extrahepatic venous drainage) on prognosis, and contribute to the literature on this rare disease. Materials and Methods: We conducted a retrospective study of all cases diagnosed prenatally with DVA at a tertiary center between 2016-2019. Our study reviewed obstetric data, associated anomalies, other systemic anomalies, type of DVA, chromosomal or genetic anomalies, and perinatal and postnatal outcomes. Postnatal infants were followed up to the 6th month. Results: We identified 16 cases with ductus venosus agenesis. The type of DVA (intrahepatic-extrahepatic shunt), presence of chromosomal anomalies, accompanying ultrasonographic findings, and perinatal outcomes were recorded. Generally, in 7 out of the 16 cases, the umbilical vein drained into the portal system (44% - intrahepatic), and in 9 cases, it drained into the systemic venous system. Conclusion: DVA is a rare congenital abnormality with potentially significant implications for affected fetuses and infants. Early diagnosis, careful monitoring, and appropriate management strategies are crucial to optimize outcomes for these patients. There's a need for future research to better understand the underlying etiology and pathophysiology of DVA and to develop more effective treatment options for affected individuals.