The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes

Introduction: Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.

Materials and methods: This was a retrospective study examining consecutive pregnancies diagnosed as having PRUV in our hospital between 2017 and 2022.

Results: A total of 41 patients were diagnosed as having fetuses with PRUV during the study period. Additional ultrasound findings were detected in 26 fetuses (63.4%). The most common associated finding was fetal growth restriction, which was found in 15 (36.5%) of 41 fetuses. This was followed by cardiovascular findings in eight (19.5%) fetuses. Genetic anomalies were detected in five (12.1%) fetuses. Down syndrome was detected in two fetuses (4.8%), nail-patella syndrome in one fetus (2.4%), duplication of 7p was found in one fetus (2.4%), and Potocki-Lupski syndrome (2.4%) was diagnosed in one fetus.

Conclusion: In our study we found that even in isolated cases, genetic syndromes could coexist and fetal growth could be impaired so it should be closely monitored.