基于TREEC的NBS SCID报告实践的评估,以协调结果和解释:全球调查
Jahnavi Aluri1, Amy Gaviglio2, Isaac Kistler3
1Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, and Department of Pathology, The Ohio State University College of Medicine, Columbus, USA.
针对严重综合免疫缺陷 (SCID) 的新生儿查在全球范围内有所不同. 这项研究强调了对T细胞受体切除循环 (TREC) 结果进行协调报告和解释的必要性,以改善新生儿健康结果.
科学领域:
- 免疫学 免疫学 免疫学
- 公共卫生 公共卫生
- 遗传学 是一个遗传学.
背景情况:
- 新生儿查 (NBS) 严重的综合免疫缺陷 (SCID) 使用T细胞受体切除圈 (TREC) 在干血斑点 (DBS) 全球实施.
- 该SCID协调倡议旨在标准化NBS报告实践,以实现全球合作.
研究的目的:
- 评估目前的全球NBS SCID查实践.
- 报告全球调查的初始阶段的调查结果.
主要方法:
- 全球SCID查计划分发了一个18个问题的调查.
- 分析了每个地区的一个反应,包括国际查算法.
主要成果:
- 收到了200个回复;80个是独一无二的,并进行了分析.
- 38%的非美国国家报告全国普遍查,而62%有区域或试点计划.
- 方法和报告的变化,特别是紧急异常TREC结果的变化.
结论:
- 全球NBS SCID方法有很大的差异,强调在报告和解释方面需要协调.
- 这项调查是首次记录全球NBS SCID实践.
- 调查结果将为SCID NBS的第二阶段共识报告框架提供信息.
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