Background

Absent septum pellucidum (ASP) is a brain abnormality often associated with neuroanatomic abnormalities including septo-optic dysplasia (SOD). We aimed to determine how frequently prenatally diagnosed isolated ASP is confirmed by postnatal imaging and to examine clinical outcomes for ASP.

Methods

This was a retrospective study of maternal-fetal dyads referred to Children's National Hospital from January 1, 2012, to June 30, 2019. We included cases with fetal diagnosis of isolated or complex ASP. Diagnosis was based on ASP and the presence or absence of additional neuroanatomic findings. Data included obstetric and birth history, genetic testing, imaging, and neurodevelopmental outcomes.

Results

ASP was diagnosed in 35 fetuses. Of 17 fetuses with isolated ASP, 10 had postnatal evaluation. In five (50%) isolated ASP cases, postnatal imaging revealed additional brain abnormalities. The five children with postnatally confirmed isolated ASP had lower rates of hydrocephalus (0% vs 54%) and abnormal feeding (0% vs 20%), hearing (0% vs 14%), and vision (0% vs 14%) than those with complex ASP (n = 17). Children with isolated ASP had lower rates of developmental delay (33% vs 50%) and seizures (11% vs 30%) than children with complex ASP. One child with prenatal isolated ASP was diagnosed with SOD (10%).

Conclusions

Few children with prenatally diagnosed isolated ASP had SOD diagnosed postnatally. Overall, children with isolated ASP demonstrate better outcomes than children with complex ASP. Fetal magnetic resonance imaging is a useful tool to evaluate the septum pellucidum and may reveal additional abnormalities that can impact prognosis and affect prenatal counseling.

中文翻译：

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孤立性透明隔缺失：胎儿诊断和产后结果的回顾性研究

背景

透明隔缺失 (ASP) 是一种大脑异常，通常与神经解剖学异常相关，包括视隔发育不良 (SOD)。我们旨在确定产前诊断孤立性 ASP 的产后影像学证实频率，并检查 ASP 的临床结果。

方法

这是一项回顾性研究，研究对象为 2012 年 1 月 1 日至 2019 年 6 月 30 日期间转诊至国立儿童医院的母胎。我们纳入了胎儿诊断为孤立性或复杂性 ASP 的病例。诊断基于 ASP 和是否存在其他神经解剖学发现。数据包括产科和出生史、基因检测、影像学和神经发育结果。

结果

35 个胎儿被诊断出 ASP。在 17 名孤立性 ASP 胎儿中，10 名进行了产后评估。在五个 (50%) 孤立的 ASP 病例中，产后成像显示额外的脑异常。5 名产后确诊的孤立性 ASP 患儿的脑积水 (0% vs 54%) 和异常喂养 (0% vs 20%)、听力 (0% vs 14%) 和视力 (0% vs 14%) 的发生率低于那些具有复杂 ASP 的人 (n = 17)。单纯性 ASP 患儿的发育迟缓率（33% 对 50%）和癫痫发作率（11% 对 30%）低于复杂性 ASP 患儿。一名产前分离 ASP 的儿童被诊断为 SOD（10%）。

结论

产前诊断为孤立性 ASP 的儿童很少在产后诊断为 SOD。总体而言，孤立性 ASP 的儿童比患有复杂性 ASP 的儿童表现出更好的结果。胎儿磁共振成像是评估透明隔的有用工具，并可能揭示可能影响预后和产前咨询的其他异常。