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Multicenter Study
. 2025 Aug;45(9):1089-1099.
doi: 10.1002/pd.6816. Epub 2025 May 19.

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study

Affiliations
Multicenter Study

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study

Anouk Moens et al. Prenat Diagn. 2025 Aug.

Abstract

Objective: To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.

Methods: VM was classified as mild, moderate, or severe and isolated or non-isolated. Genetic data were collected. Differences between VM subgroups were described, and risk factors for progression of fetal VM were identified using logistic regression analysis. Outcome was defined as the percentage of live births, termination of pregnancy (TOP) and intra-uterine fetal demise (IUFD).

Results: Of the 229 cases, 109 (47.6%) had mild VM, 60 (26.2%) moderate VM, and 60 (26.2%) severe VM. Progression of VM occurred in 45/153 cases (29.4%), half of which were in the group with severe VM. Dilatation of the 3rd ventricle and neural tube defects were risk factors for progression of VM. The percentage of live births (excluding cases with TOP and unknown outcome) was 93.1% (54/58) in mild VM, 78.6% (22/28) in moderate VM and 92.6% (25/27) in severe VM. In 12/229 cases (5.2%) IUFD occurred. Genetic analysis was performed in 143/229 (62.4%) of cases, showing (likely) pathogenic abnormalities in 41/143 (28.7%) cases, predominantly in mild, non-isolated VM.

Conclusions: This study confirms the clinical relevance of additional genetic investigations in all types of fetal VMs. Further larger prospective research including clinical follow-up is needed to improve prenatal counseling.

Keywords: exome sequencing‐neurosonography; fetal counseling; fetal ventriculomegaly; hydrocephaly; outcome; termination of pregnancy.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Ultrasound at 19 weeks of gestation, showing severe ventriculomegaly.
FIGURE 2
FIGURE 2
Flowchart for counseling in fetal ventriculomegaly.

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