Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
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DOI：
10.1016/j.jaci.2021.08.026
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发表时间：
2022-04
影响因子：
14.2
通讯作者：
van der Burg, Mirjam
中科院分区：
文献类型：
--
作者：
Blom, Maartje;Zetterstrom, Rolf H.;Stray-Pedersen, Asbjorg;Gilmour, Kimberly;Gennery, Andrew R.;Puck, Jennifer M.;van der Burg, Mirjam
关键词：
公共卫生新生儿筛查（NBS）计划不断发展，利用国际共享学习。许多国家最近采用了严重联合免疫缺陷（SCID）的NBS。然而，由于使用不同的术语和不精确或可变的病例定义，对T细胞淋巴细胞减少症的非SCID疾病进行筛选结果的比较受到了阻碍。本研究试图确定标准化的筛查术语是否可以克服巴比伦的混乱，以及改进的病例定义是否会促进国际知识交流。一个系统的文献综述强调了国际上SCID NBS项目中的各种术语。虽然，正如预期的那样，个人的筛选策略和测试是针对每个程序，我们发现缺乏统一的术语在疾病的目标，灵敏度和特异性的定义所需的比较程序。该研究的建议反映了来自文献和现有指南的现有证据，以及公共卫生筛查和免疫学专家的意见。术语已统一。阐明了非SCID病例中可采取行动和不可采取行动的T细胞淋巴细胞减少症之间的区别，前者是患有T细胞淋巴细胞减少症的婴儿，他们可以从预防感染、抗生素预防和避免减毒活疫苗等干预措施中获益。通过将以前互不相关的公共卫生筛查界和临床免疫学界聚集在一起，这些SCID NBS的审议弥合了这些学科之间在语言和观点上的差距。这项研究建议，国际专家在每种疾病的NBS进行联合力量，磨练他们的定义，并建议统一登记的NBS的结果。术语标准化将促进国际知识交流，优化国家统计局和后续护理的每个阶段，提高全世界儿童的健康成果。
Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia. This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge. A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs. The study’s recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance. By bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide.
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