Gynaecology and Obstetrics Department, Centro Hospitalar de Entre o Douro e Vouga, Santa Maria da Feira, Portugal,
Gynaecology and Obstetrics Department, Centro Hospitalar de Entre o Douro e Vouga, Santa Maria da Feira, Portugal.
Fetal Diagn Ther. 2021;48(2):88-95. doi: 10.1159/000512534. Epub 2021 Jan 29.
Abnormalities of corpus callosum are one of the most common brain anomalies. Fetuses with isolated corpus callosum agenesis (CCA) have a better prognosis than those with additional anomalies. However, unpredictable neurodevelopmental outcomes of truly isolated CCA make prenatal counseling a challenge. The aim of this review is to evaluate neurodevelopmental outcomes in children with prenatal diagnosis of isolated CCA. Controlled clinical trials published between May 23, 2009, and May 23, 2019, using the MeSH term "agenesis of corpus callosum" were reviewed. A total of 942 articles were identified, and 8 studies were included in the systematic review depending on the inclusion criteria. These studies included 217 fetuses with isolated CCA and no other anomalies at prenatal assessment. Neurodevelopmental outcome was reported to be normal in 83 children with a prenatal diagnosis of isolated CCA confirmed at birth within 128 completed assessments. About 45 children presented borderline, moderate, or severe neurodevelopmental outcome. In this review, neurodevelopment was favorable in two-thirds of the cases, but mild disabilities emerged in older children. Despite this, disabilities can occur later beyond school age and a low risk of severe cognitive impairment exists. Our study highlights the essential early diagnosis and proper supportive therapy.
胼胝体发育不全是最常见的脑畸形之一。孤立性胼胝体发育不全（CCA）胎儿的预后优于伴有其他异常的胎儿。然而，真正孤立性 CCA 的不可预测的神经发育结局使得产前咨询具有挑战性。本综述的目的是评估产前诊断为孤立性 CCA 的儿童的神经发育结局。使用 MeSH 术语“胼胝体发育不全”，检索了 2009 年 5 月 23 日至 2019 年 5 月 23 日之间发表的对照临床试验。共确定了 942 篇文章，并根据纳入标准纳入了 8 项系统评价研究。这些研究包括 217 例在产前评估中无其他异常的孤立性 CCA 胎儿。在 128 例完成评估中，有 83 例产前诊断为孤立性 CCA 并在出生后得到证实的儿童报告神经发育正常。约 45 名儿童的神经发育结果为边缘、中度或重度异常。在本综述中，三分之二的病例神经发育良好，但在较大的儿童中出现了轻度残疾。尽管如此，残疾可能会在学龄期以后出现，并且存在认知障碍严重程度低的风险。我们的研究强调了早期诊断和适当的支持性治疗的重要性。
