Further insights into unusual acrania-exencephaly-anencephaly sequence caused by amniotic band – first trimester fetoscopic correlation with two- and three-dimensional ultrasound

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI:10.1515/crpm-2021-0023

J. Weichert, W. Sepulveda, M. Gembicki

引用次数: 1

Abstract

Abstract Objectives Antenatal detection of acrania-exencephaly-anencephaly (AEA) sequence beyond 10 completed weeks of gestation is usually straight-forward. An earlier detection and classification of the causative conditions prior to disaggregation of exposed dysplastic brain tissue remains challenging. Case presentation We present two- and three-dimensional ultrasound correlated with fetoscopic findings of an unusual type of neural tube defect at 11 gestational weeks caused by an amniotic constriction ring resulting in cystic degeneration of the developing skull. Conclusions By giving further illustrative insights into early defective brain development, this report confirms recent findings of an unusual subtype of acrania-exencephaly-anencephaly sequence suggesting early disruption of the developing brain, following an amniotic entrapment of the skull.

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进一步了解羊膜带-孕早期胎儿镜与二维和三维超声的相关性引起的不寻常的头-脑-无脑畸形序列

【摘要】目的妊娠10周以上颅骨-外脑-无脑(AEA)序列的产前检测通常是直接的。在暴露的发育不良脑组织解体之前，早期检测和分类的病因条件仍然具有挑战性。病例介绍我们提出了二维和三维超声与胎儿镜的发现一个不寻常类型的神经管缺陷在妊娠11周引起羊膜收缩环导致囊性变性的颅骨发育。结论:通过对早期大脑发育缺陷的进一步说明，本报告证实了最近发现的一种不寻常的脑-畸形-无脑序列亚型，表明在羊膜夹闭颅骨后，发育中的大脑会早期中断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.