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Article Abstract

Objective: Fetal ventriculomegaly (VM) is a common prenatal ultrasound finding with a wide range of etiologies and variable prognostic outcomes. This study aimed to evaluate the prenatal characteristics, genetic findings, and postnatal neurodevelopmental outcomes of fetuses diagnosed with VM, according to the severity of VM and associated abnormalities.

Methods: This retrospective single-center study includes 357 fetuses diagnosed with VM between 2020 and 2024. Cases were classified according to VM severity, laterality, and the presence of associated anomalies. Prenatal genetic tests, neurosonography, and prenatal and postnatal MRI findings were analyzed. Outcomes included the termination of pregnancy, intrauterine and postnatal death, and long-term neurodevelopmental status.

Results: Among 357 fetuses, 193 (54.1 %) had mild VM, 85 (23.8 %) had moderate VM, and 79 (22.1 %) had severe VM. 25.2 % of the cases were isolated. Additional CNS abnormalities were present in 43.1 % of the fetuses. Genetic or chromosomal abnormalities were detected in 35.7 % of the fetuses who underwent genetic testing (55 out of 154 cases). The survival rate was highest in mild (75.6 %) and isolated VM (95.6 %). A higher gestational age at diagnosis, smaller ventricular diameter, and the absence of CNS/extracranial CNS abnormalities were associated with normal neurodevelopmental outcomes. In the logistic regression analysis, the presence of CNS abnormalities, ventricular width, and gestational age at diagnosis were found to be independent predictors of neurodevelopmental status. ROC analysis in our study showed that the cut-off value of 13 mm had good discrimination to predict normal neurodevelopmental status in all cases but limited accuracy in isolated cases of VM.

Conclusion: The severity and etiology of fetal VM significantly affect both survival and neurodevelopmental outcomes. Isolated mild VM correlated with positive outcomes, but moderate-to-severe VM and non-isolated cases had markedly poor survival rates and neurodevelopmental status. Key prognostic factors for normal neurodevelopmental status included higher gestational age at diagnosis, smaller ventricular diameters <13 mm, and the absence of CNS and non-CNS anomalies.

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http://dx.doi.org/10.1016/j.earlhumdev.2025.106355DOI Listing

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