对VACTERL协会的临床和遗传方法的系统审查
Rachel Bowden1, Noelia Nunez Martinez2
1Sydney Children's Hospital Network and Royal Prince Alfred Hospital, University of Sydney, Sydney, New South Wales, Australia.
Journal of paediatrics and child health
|January 7, 2026
概括
本综述审查了临床和遗传测试VACTERL关联,一个复杂的先天性异常. 基因检测的产量各不相同,这凸显了对标准化诊断方案和进一步研究的需要.
科学领域:
- 医学遗传学 医学遗传学
- 儿科先天性异常 儿童先天性异常
- 诊断策略 诊断策略
背景情况:
- VACTERL关联是多种先天性异常的非随机共发生.
- 现有的诊断方法和遗传检测策略缺乏标准化.
- 了解基因检测的诊断产量对于患者管理至关重要.
研究的目的:
- 系统地审查VACTERL协会的临床和遗传测试方法.
- 评估各种遗传测试方式的诊断产量.
- 识别证据库中的空白,并为未来的研究提供信息.
主要方法:
- 在主要的生物医学数据库 (PubMed,MEDLINE,EMBASE,Web of Science,CINAHL) 进行系统的文献搜索,截至2024年12月.
- 在VACTERL协会中包括报告基因测试的英语人体研究.
- 评估偏见的风险和证据的确定性,使用既有方法.
主要成果:
- 包括65篇文章,包括观察性研究,案例报告,案例系列和专家意见.
- 报告的染色体微阵列的诊断产量在2%至31%之间.
- 整体外体序列测定显示诊断产量在5%至22%之间.
结论:
- 在VACTERL定义和诊断策略中存在显著的异质性.
- 目前的证据基础受到研究设计和过时技术的限制.
- 建议包括考虑对具有VACTERL特征的患者进行成像,染色体微阵列和外基因组/基因组测序,等待进一步的前性研究.
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