Sapantzoglou Ioakeim, Asimakopoulos Georgios, Fasoulakis Zacharias, Tasias Konstantinos, Daskalakis Georgios, Antsaklis Panagiotis
First Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece.
Ultraschall Med. 2025 Feb;46(1):73-85. doi: 10.1055/a-2375-0118. Epub 2024 Aug 30.
While mild fetal ventriculomegaly is frequently observed as an incidental and benign finding, it is also known to be linked with structural, genetic, and neurodevelopmental abnormalities. The objective of this study was to conduct a systematic review of the existing literature in order to evaluate the association between apparently isolated fetal mild ventriculomegaly with the presence of additional structural defects detected by fetal brain MRI, chromosomal or other genetic anomalies, and neurodevelopmental delay.
This systematic review was designed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Modern literature was searched from January 1, 2011, to July 31, 2023.
23 studies were included, comprising a total of 2590 patients. Nine studies assessed the association between fetal mild ventriculomegaly and neurodevelopmental impairment, including 536 cases, with normal neurodevelopmental outcomes ranging from 64% to 96.5%. Ten studies evaluated the additive value of fetal MRI, including 1266 fetuses, with the detection rate of additional brain defects that eventually altered the clinical management ranging from 0% to 19.5%. Seven studies investigated the association of mild ventriculomegaly with the presence of underlying chromosomal or genetic conditions, including 747 cases, with the rate ranging from 1.1% to 15.4%.
The prevalence of aneuploidy and genetic abnormalities in ventriculomegaly, especially in isolated cases, is reported to be quite low and the incidence of neurodevelopmental delay appears to be similar to that of the general population in cases that are apparently and truly isolated.
虽然轻度胎儿脑室扩大经常作为偶然的良性发现被观察到，但它也与结构、遗传和神经发育异常有关。本研究的目的是对现有文献进行系统综述，以评估明显孤立的胎儿轻度脑室扩大与胎儿脑MRI检测到的其他结构缺陷、染色体或其他遗传异常以及神经发育延迟之间的关联。
本系统综述根据系统评价和Meta分析的首选报告项目指南进行设计。检索了2011年1月1日至2023年7月31日的现代文献。
纳入23项研究，共2590例患者。9项研究评估了胎儿轻度脑室扩大与神经发育损害之间的关联，包括536例，神经发育正常结局的比例为64%至96.5%。10项研究评估了胎儿MRI的附加价值，包括1266例胎儿，最终改变临床管理的其他脑缺陷的检出率为0%至19.5%。7项研究调查了轻度脑室扩大与潜在染色体或遗传疾病之间的关联，包括747例，发生率为1.1%至15.4%。
据报道，脑室扩大中尤其是孤立病例的非整倍体和遗传异常的患病率相当低，在明显且真正孤立的病例中，神经发育延迟的发生率似乎与一般人群相似。
