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在0型脊柱肌肉缩中产前超声检查结果

Stephanie Stokes¹, Madeline Snipes², Lee D Moore³

¹Department of Obstetrics and Gynecology, Augusta University, Augusta, Georgia, USA.

Molecular genetics & genomic medicine

|September 9, 2025

概括

在一个SMN2副本的胎儿中,脊椎肌肉缩 (SMA) 0型呈现出独特的产前发现. 关键指标包括心脏缺陷,部透明度增加和胎儿运动减少,这表明需要进行SMA测试.

科学领域:

遗传学和分子生物学
产前诊断在产前诊断
儿科神经学儿科神经学

背景情况:

脊柱肌缩 (SMA) 是由SMN基因变异引起的遗传疾病,导致婴儿死亡率.
以前关于胎儿SMA产前发现的研究不一致,可能是因为没有考虑SMN2拷贝数.

研究的目的:

分析严重的SMA类型0.0中不同的产前发现.
为了将产前超声波检测结果与SMN2副本编号相关联.

主要方法:

一个患有0型SMA (0SMN1/1SMN2基因型) 的新生儿的病例报告.
产前发现的审查,包括低可塑性左心综合征,AV阻塞,部透光和多水.
在文献中搜索了32例SMA类型0的产前发现.

主要成果:

在SMA类型0中常见的关联包括心脏缺陷,额透光度增加和胎儿运动减少.
其他发现包括非顶部呈现,多水和产后收缩/骨折.
该病例呈现出HLHS,AV阻塞,加厚的部透光度和多水.

结论:

产前发病的SMA类型0与一个SMN2副本具有独特的表型.
常见的产前指标是心脏异常,额透光度增加,胎儿运动减少.
这些发现证明SMA需要进行基因检测.

关键词:

产前超声波产前超声波产前超声波胎儿心脏异常胎儿心脏异常基因查基因查基因查产前诊断产前诊断产前诊断严重的脊柱肌肉缩脊柱肌肉缩0型脊柱肌肉缩0型

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