Clinical characteristics and outcome of fetuses with ventriculomegaly: a retrospective multicenter study

PURPOSE: To evaluate the incidence of associated structural anomalies, chromosomal/genetic abnormalities, infections and outcomes of fetuses with ventriculomegaly (VM). METHODS: Retrospective multicenter cohort study of 627 pregnancies with fetal VM. VM was classified as mild, moderate, or severe and isolated or non-isolated. Genetic, obstetric and outcome data were collected and compared according to VM categories. RESULTS: The incidences of associated structural anomalies were 21.9%, 53.1% and 63.9% in mild, moderate and severe VM, respectively (p = 0.032 mild vs. moderate-severe). The incidences of genetic abnormality and fetal infection of the total VM group were 16.1% and 0.8%, respectively, with no significant differences between the VM categories (p > 0.05). The incidences of pathogenic genetic variant in the mild, moderate and severe VM were 13.5% (5/37), 16.7% (3/18) and 38.1% (8/21), respectively (p = 0.032 mild vs. severe). Fetal MRI identified additional CNS anomalies in 5.6% of cases. The incidences of surviving babies with neurological morbidities were significantly higher in fetuses with non-isolated VM groups than in isolated VM groups (p < 0.001). CONCLUSION: The prognosis of fetuses with VM mostly depends on the severity and the associated anomalies. In all types of fetal VMs additional genetic investigations are valuable.