没有后脑的开放脊椎失明 - 自然史和产后结果
I Bedei1, C C Kik2, R Axt-Fliedner1
1Department of Prenatal Medicine and Fetal Therapy, Justus-Liebig University Giessen, Giessen, Germany.
Prenatal diagnosis
|July 8, 2025
概括
胎儿有开放脊柱失明 (OSD),但没有后脑 (HBH) 的胎儿的分离率很低. 然而,运动功能通常在产前受损,并且在出生后可能会恶化,这会影响胎儿手术的咨询.
科学领域:
- 产前诊断和先天性异常的管理.
- 胎儿神经外科和发育神经学.
- 脊柱失色症及其对神经发育的影响.
背景情况:
- 开放性脊柱失色症 (OSD) 是一种复杂的先天性疾病.
- 后脑 (HBH) 的存在影响OSD预后.
- 了解没有HBH的OSD自然史对于准确的咨询至关重要.
研究的目的:
- 描述患有OSD但没有HBH的胎儿的自然史.
- 评估这个特定的OSD亚组的产前和产后结果.
- 为了告知临床决策有关诸如胎儿手术等干预措施.
主要方法:
- 在三个产前中心进行了回顾性队列研究.
- 包括出生后确诊的OSD和没有产前HBH (19-27周) 的胎儿.
- 使用串行超声波,MRI和产后评估 (成像,手术,神经功能).
主要成果:
- 在280名OSD胎儿中,12名 (4%) 缺乏HBH.
- 中度腹腔大发生在33%的人中;没有检测到体异常.
- 产后HBH发生在50%的患者中,分流率为20%.
- 80%的人与解剖水平相比,运动功能 (MF) 稳定或改善.
- 33%的MF与第二季度评估相比有所下降.
结论:
- 没有HBH的OSD胎儿显示出低的产后分流率.
- 产前运动功能经常受到损害,产后可能会恶化.
- 这些发现挑战了胎儿手术在这个OSD亚组中的作用,并指导了咨询.
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