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.