Gezer Murad, Tabakçı Abdullah, Taşdemir Ümit, Özdemir Mucize Eriç, Aytaş Zeycan, Demirci Oya
Department of Obstetrics, Division of Perinatology, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Department of Obstetrics, Division of Perinatology, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Early Hum Dev. 2025 Oct;209:106355. doi: 10.1016/j.earlhumdev.2025.106355. Epub 2025 Aug 1.
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.
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.
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.
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.
胎儿脑室扩大（VM）是产前超声常见的发现，病因广泛，预后结果各异。本研究旨在根据VM的严重程度及相关异常情况，评估诊断为VM的胎儿的产前特征、基因检测结果及产后神经发育结局。
这项回顾性单中心研究纳入了2020年至2024年间诊断为VM的357例胎儿。病例根据VM严重程度、单侧性及相关异常情况进行分类。分析产前基因检测、神经超声及产前和产后MRI检查结果。结局包括妊娠终止、宫内及产后死亡以及长期神经发育状况。
357例胎儿中，193例（54.1%）为轻度VM，85例（23.8%）为中度VM，79例（22.1%）为重度VM。25.2%的病例为孤立性VM。43.1%的胎儿存在其他中枢神经系统异常。在接受基因检测的胎儿中（154例中的55例），35.7%检测到基因或染色体异常。轻度VM（75.6%）和孤立性VM（95.6%）的存活率最高。诊断时孕周较大、脑室直径较小以及无中枢神经系统/颅外中枢神经系统异常与正常神经发育结局相关。在逻辑回归分析中，中枢神经系统异常的存在、脑室宽度及诊断时孕周是神经发育状况的独立预测因素。本研究中的ROC分析表明，13mm的截断值对预测所有病例的正常神经发育状况具有良好的区分度，但在孤立性VM病例中的准确性有限。
胎儿VM的严重程度和病因显著影响生存及神经发育结局。孤立性轻度VM与良好结局相关，但中度至重度VM及非孤立性病例的存活率和神经发育状况明显较差。正常神经发育状况的关键预后因素包括诊断时孕周较大、脑室直径<13mm以及无中枢神经系统和非中枢神经系统异常。
