Agenesis of the ductus venosus associated with direct umbilical venous return into the heart - Case series and review of literature

Objectives: The purpose of our study was to review our own experience and the available literature on the prenatal diagnosis of absent ductus venosus associated with direct insertion of the umbilical vein into the heart. Methods: A retrospective review of the database of a tertiary fetal cardiology centre. The literature was searched for cases with a prenatal diagnosis of such an umbilical venous anomaly. Results: Between January 2000 and June 2003, nine fetuses were diagnosed as having absence of the ductus venosus with the umbilical vein directly draining into the heart. This represents the largest reported clinical experience of this anomaly. We also report, to our knowledge, the first prenatal diagnosis of insertion of the umbilical vein into the left atrium. Combining our series with those found in the literature, a total of 35 cases were identified. Cardiomegaly was reported in 25 of the 35 cases (71%). Structural cardiac abnormalities and other extra-cardiac anomalies were found in 13 of the 35 cases (37%). Hydrops was present or developed in 6 cases (17%). The outcome data were available for 33. The overall survival rate was 67% (22 of 33). Conclusions: Careful assessment of the ductus venosus and the umbilical vein should be a part of the evaluation of every fetus with unexplained cardiomegaly. All fetuses with abnormal connection of the umbilical vein should undergo a clinical and ultrasonographic assessment both in utero and after birth to exclude any cardiac and extra-cardiac abnormalities. During the prenatal period, serial ultrasound examinations are indicated and delivery is considered when there is evidence of progressive cardiovascular compromise.