Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature
Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature
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DOI：
10.1016/j.ejpn.2018.04.001
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发表时间：
2018-11-01
影响因子：
3.1
通讯作者：
Veggiotti, Pierangelo
中科院分区：
文献类型：
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作者：
Scelsa, Barbara;Rustico, Mariangela;Veggiotti, Pierangelo
目的：我们研究的目的是确定孤立性轻度脑室扩大胎儿的结局，并在单一三级转诊中心进行产前影像检查、产前咨询、分娩和临床随访。方法：研究纳入孤立性非进行性轻度脑室扩大（10-15 mm）胎儿。纳入标准如下：单胎妊娠、染色体分析正常、TORCH 血清学评估正常、胎儿超声和 MRI，排除额外的 CNS 或 CNS 外畸形。根据文献，产前咨询的重点是讨论脑室扩大的预后。产后随访方案包括神经放射学检查（颅脑超声或 MRI）、神经学和儿科检查。格里菲斯量表用于评估神经发育结果。结果：30 名新生儿被纳入随访。产后神经放射学检查证实脑室扩大是除一名病例外所有病例中的孤立发现。十九名儿童可以接受正式的神经发育测试。在我们的病例系列中，93.3% 的儿童有良好的结果或轻微的异常。两名患有轻度脑室扩大的儿童（6.6%）被诊断为患有罕见遗传病。除一例外，所有病例在最新评估（平均年龄 20.8 个月）时，格里菲斯发育商数均正常（平均总商数 98.3）。讨论：正如文献中所述，我们病例系列中的大多数儿童都有良好的结果。尽管现在有大量关于脑室扩大的数据，但胎儿咨询仍然具有挑战性，需要谨慎。诊断患有轻度脑室扩大的妊娠的诊断检查必须非常细致，包括 TORCH 评估、微阵列、排除进展的连续超声检查以及胎儿 MRI。然而，尽管进行了准确的筛查，但在更复杂的情况下，脑室扩大可能是胎儿生命中唯一的非特异性发现，因此必须进行产后随访。 (C) 2018 年欧洲小儿神经病学协会。由爱思唯尔有限公司出版。保留所有权利。
Objective: The aim of our study was to determine the outcome of fetuses with isolated mild ventriculomegaly, with prenatal imaging work-up, prenatal consultation, delivery and clinical follow-up performed in a single tertiary referring center.Methods: Fetuses with isolated and non-progressive mild ventriculomegaly (10-15 mm) were included in the study. Inclusion criteria were as follows: singleton pregnancies, normal chromosomal analysis, normal serological evaluation of TORCH, fetal ultrasound and MRI excluding additional CNS or extra-CNS malformations. The prenatal consultation consisted in discussing the prognosis of ventriculomegaly, according to the literature. The postnatal follow-up protocol included a neuroradiological investigation (cranial ultrasound or MRI), neurological and pediatric examinations. The Griffiths Scales were used to assess the neurodevelopmental outcome.Results: Thirty newborns were included in follow-up. The postnatal neuroradiological investigations confirmed the ventriculomegaly as an isolated finding in all cases except one. Nineteen children were available for formal neurodevelopmental testing. In our case series, 93.3% of the children had a favorable outcome or mild anomalies. Two children (6.6%) with mild ventriculomegaly were diagnosed as having rare genetic conditions. The Griffiths developmental quotients were normal (mean General Quotient 98.3) at the latest assessment (mean age 20.8 months) in all but one case.Discussion: Most children in our case series had a favorable outcome, as described in the literature. Even though a large quantity of data is now available on ventriculomegaly, fetal consultation remains challenging and requires caution. The diagnostic work-up of pregnancies diagnosed with mild ventriculomegaly must be very meticulous and include TORCH evaluation, microarray, serial ultrasounds to exclude progression, and a fetal MRI. However, despite accurate screening, there are more complex conditions in which ventriculomegaly can be the only non-specific finding in fetal life, making postnatal follow up mandatory. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.