Background

Fetal magnetic resonance imaging (MRI) is increasingly utilized for prenatal diagnosis of agenesis of the corpus callosum (ACC). This study aimed to (1) describe cases of ACC diagnosed by fetal MRI, (2) determine the frequency of postnatal confirmation by MRI, and (3) understand postnatal outcomes of infants with ACC.

Methods

Maternal records from Children's National Hospital between January 2012 and June 2019 with a prenatal neurological consultation, fetal MRI, and ACC on imaging were included. Maternal, prenatal, and postnatal infant data were collected. Each case was categorized as complete or partial ACC and isolated or complex ACC by fetal MRI and group comparisons of outcomes were analyzed.

Results

A total of 127 maternal-fetal dyads with ACC were categorized into 45 isolated-complete, 17 isolated-partial, 46 complex-complete, and 19 complex-partial ACC. Of 75 live births, 72 had postnatal evaluations. In 43 of 59 (73%) cases with postnatal neuroimaging, prenatal ACC subcategory was confirmed. Children with isolated or complex and with partial or complete ACC had similar rates of developmental delays and epilepsy. Complex ACC cases had worse outcomes than isolated ACC, with complex ACC having more postnatal dysmorphisms and abnormal feeding and vision compared with isolated ACC. Similar neurodevelopmental outcomes were seen for partial and complete ACC.

Conclusions

Children with isolated or complex ACC and with partial or complete ACC have a range of neurodevelopmental outcomes. Fetal and postnatal brain MRI is a valuable tool to understand differences of the corpus callosum that can guide genetic testing, prenatal counseling, and postnatal care.

中文翻译：

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胎儿 MRI 诊断胼胝体发育不全的结果

背景

胎儿磁共振成像 (MRI) 越来越多地用于产前诊断胼胝体发育不全 (ACC)。本研究旨在 (1) 描述通过胎儿 MRI 诊断的 ACC 病例，(2) 确定通过 MRI 进行产后确认的频率，以及 (3) 了解 ACC 婴儿的产后结果。

方法

纳入了 2012 年 1 月至 2019 年 6 月期间来自国立儿童医院的孕产妇记录，包括产前神经系统会诊、胎儿 MRI 和 ACC 影像学检查。收集母亲、产前和产后婴儿数据。通过胎儿 MRI 将每个病例分类为完全或部分 ACC 和孤立或复杂 ACC，并分析结果的组比较。

结果

共有 127 例母胎 ACC 分为 45 例完全分离、17 例分离部分、46 例复杂完整和 19 例复杂部分 ACC。在 75 名活产婴儿中，72 名接受了产后评估。在 59 例 (73%) 产后神经影像学病例中，有 43 例 (73%) 确诊为产前 ACC 亚类。患有孤立性或复杂性以及部分或完全 ACC 的儿童发育迟缓和癫痫的发生率相似。复杂 ACC 病例的结果比孤立的 ACC 更差，与孤立的 ACC 相比，复杂的 ACC 有更多的产后畸形和异常的喂养和视力。部分和完全 ACC 的神经发育结果相似。

结论

患有孤立性或复杂性 ACC 以及部分或完全性 ACC 的儿童具有一系列神经发育结果。胎儿和产后脑部 MRI 是了解胼胝体差异的宝贵工具，可指导基因检测、产前咨询和产后护理。