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

## TL;DR

This study examines the clinical features and outcomes of fetuses with ventriculomegaly, finding that severity and associated anomalies strongly influence prognosis.

## Contribution

The study provides new insights into the association between ventriculomegaly severity, anomalies, and outcomes through a large multicenter cohort.

## Key findings

- Severe ventriculomegaly is associated with higher rates of structural anomalies and pathogenic genetic variants.
- Non-isolated ventriculomegaly significantly increases the risk of neurological morbidities in surviving babies.
- Fetal MRI detects additional CNS anomalies in a small percentage of cases.

## Abstract

To evaluate the incidence of associated structural anomalies, chromosomal/genetic abnormalities, infections and outcomes of fetuses with ventriculomegaly (VM).

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.

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).

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.

The online version contains supplementary material available at 10.1007/s00404-025-08279-x.