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33周大的女性胎儿的骨:一个案例报告

Clarisse Veronica L Mirhan¹, Cecile C Dungog¹, Karen Cybelle J Sotalbo²

¹Department of Laboratories, Philippine General Hospital, University of the Philippines Manila.

Acta medica Philippina

|June 7, 2024

概括

一种罕见的神经管严重缺陷 - - 骨病发生在胎儿身上,尽管没有先前的家族病史. 这凸显了叶酸补充对所有生育年龄的妇女来预防出生缺陷的关键重要性.

科学领域:

医学遗传学医学遗传学
产科产科产科产科产科
发展生物学发展生物学

背景情况:

神经管缺陷 (NTDs) 是严重的先天性异常,具有多因素的原因.
头骨,以无脑症和脊柱缺陷为特征,是NTD最严重的形式.
患NTD的危险因素包括家族病史和先前受影响的怀孕,在本案中没有这些因素.

研究的目的:

报告一个独一无二的甲骨炎病例,该病例发生在一个出生于没有NTD病史的母亲的胎儿身上.
强调在所有怀孕中补充叶酸的重要性,无论家庭病史如何.

主要方法:

一个33周大的女性胎儿的病例报告,诊断出甲骨炎.
关于以前的神经管缺陷的母亲和家庭病史的审查.

主要成果:

胎儿出现了骨,一种严重而致命的NTD.
这位母亲以前在孩子或家庭中没有NTD病史.

结论:

这一案例强调了NTD可以偶尔发生,即使没有已知的危险因素.
对所有生育年龄的妇女来说,孕期叶酸补充非常重要,以减少NTDs的风险.

关键词:

尸体解剖尸体解剖是什么意思案例报告案例报告有先天性异常.骨的形形形.神经管缺陷神经管缺陷

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