Unit of Fetal Medicine and Prenatal Diagnosis, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy.
Department of Medical Genetics, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo," Trieste, Italy.
J Matern Fetal Neonatal Med. 2023 Dec;36(2):2232075. doi: 10.1080/14767058.2023.2232075.
The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine. The aim of this work is to review the available literature regarding the oCSP along with the description of a case-report of oCSP with an unexpected outcome.
A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords "cavum septi pellucidi," "abnormal cavum septi pellucidi," "fetus," and "septum pellucidum." Along with the narrative review, we describe a case-report of oCSP.
A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and "hookshaped" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a pathogenic variant involving the gene. The literature review identified four articles reporting on the oCSP of which three were case report and one was a case-series. The reported rate of associated cerebral findings is around 20% and the rate of adverse neurological outcome is around 6%, which is higher than the background risk of the general population.
This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases.
透明隔腔是位于脑中线前部的虚拟腔，仅在胎儿期内有一定量的液体。在产前，闭塞性透明隔腔（ocsp）的存在在文献中描述甚少，但它构成了胎儿医学专家在意义和预后方面的重要临床难题。此外，由于高分辨率超声仪的广泛应用，其发生率可能正在增加。本研究旨在回顾关于 ocsp 的现有文献，并描述一例ocsp 伴意外结局的病例报告。
通过 Pubmed 进行文献检索，截至 2022 年 12 月，使用“透明隔腔”、“异常透明隔腔”、“胎儿”和“透明隔”等关键词，旨在确定之前描述的所有 ocsp 病例。除了叙述性综述外，我们还描述了一例 ocsp 病例报告。
一名 39 岁女性在孕早期被诊断为颈项透明层（nt）介于 95%至 99%百分位之间，在 20 周时被诊断为 ocsp 和“钩状”胆囊。胎儿磁共振成像（MRI）发现左侧多微脑回。标准核型和染色体微阵列分析（cma）正常。出生后，新生儿出现严重酸中毒、无法治疗的癫痫发作和多器官衰竭，最终死亡。癫痫基因panel 的靶向基因分析显示存在涉及 基因的致病性变异。文献综述共发现 4 篇关于 ocsp 的报道，其中 3 篇为病例报告，1 篇为病例系列。报道的相关脑发现率约为 20%，不良神经结局率约为 6%，高于一般人群的背景风险。
本病例报告和文献复习表明，ocsp 是一种目前描述甚少的临床实体，尽管总体预后良好，但在咨询时仍需谨慎。诊断性检查应包括神经超声检查，而胎儿 MRI 可能仅在非孤立性病例中总是需要，具体取决于当地设备情况。非孤立性病例可能需要进行靶向基因分析或全外显子组测序。
