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无脑儿:神经管缺陷的挑战性产前诊断

Iniencephaly: A Challenging Prenatal Diagnosis of a Neural Tube Defect.

作者信息

Mendonça Lisandra, Cerveira Isabel, Santos Fernando, Pereira Nuno, Santos Joana

机构信息

Gynecology and Obstetrics Department, Unidade Local de Saúde de Viseu Dão-Lafões, Viseu, PRT.

出版信息

Cureus. 2024 Dec 10;16(12):e75457. doi: 10.7759/cureus.75457. eCollection 2024 Dec.

Abstract

Iniencephaly is a rare malformation of the base of the cranium, with an almost always fatal prognosis. This condition is part of the category of defects related to neural tube closure. Prenatal diagnosis can now be performed through ultrasound evaluation, allowing timely counseling. We present the case of a woman for whom an ultrasound diagnosis of iniencephaly at 13 weeks of gestation enabled early termination of the pregnancy.

摘要

无脑畸形是一种罕见的颅底畸形,预后几乎总是致命的。这种情况属于与神经管闭合相关的缺陷类别。现在可以通过超声评估进行产前诊断,从而能够及时提供咨询。我们报告一例病例,一名女性在妊娠13周时经超声诊断为无脑畸形,随后早期终止了妊娠。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d38/11717403/c965a24b6f07/cureus-0016-00000075457-i01.jpg

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