Blom Maartje, Soomann Maarja, Soler-Palacín Pere, Šedivá Anna, Stray-Pedersen Asbjørg, Zetterström Rolf, Speckmann Carsten, Gennery Andrew R, van der Burg Mirjam
Laboratory for Paediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
J Allergy Clin Immunol. 2025 Feb;155(2):377-386. doi: 10.1016/j.jaci.2024.10.018. Epub 2024 Nov 6.
Initiation of newborn screening (NBS) programs in Europe dates back to the 1960s. One of the most recent expansions of NBS programs was the addition of severe combined immunodeficiency (SCID) based on detection of T-cell receptor excision circles (TRECs). In this review, we present an overview of the current situation in Europe. To avoid a biased overview based on only published results, a 37-item survey on TREC-based NBS was sent to representatives of 46 European countries. With a response rate of 83%, we collected data of 38 countries. Seventeen of the 38 European countries that have completed the survey have nationally or regionally implemented TREC-based NBS. The survey results emphasize similarities and differences as well as common practices and challenges in TREC-based NBS. Because TRECs are a general surrogate marker for severe T lymphocytopenia, conditions other than SCID are also identified. Therefore, the initial definition of the target disease as "SCID" might need to be reconsidered and extended to "SCID and severe T lymphocytopenia." Even though complete harmonization of TREC-based NBS programs across Europe will remain challenging, collaboration and close partnerships will help in the move toward universal TREC-based screening for all newborns, resulting in more infants with SCID and severe T lymphocytopenia being detected each year.
欧洲新生儿筛查（NBS）项目始于20世纪60年代。NBS项目最近的一次扩展是基于T细胞受体切除环（TREC）检测增加了严重联合免疫缺陷（SCID）筛查。在本综述中，我们概述了欧洲的现状。为避免仅基于已发表结果得出有偏差的概述，我们向46个欧洲国家的代表发送了一份关于基于TREC的NBS的37项调查问卷。回复率为83%，我们收集了38个国家的数据。在完成调查的38个欧洲国家中，有17个国家已在全国或地区层面实施了基于TREC的NBS。调查结果强调了基于TREC的NBS中的异同点以及常见做法和挑战。由于TREC是严重T淋巴细胞减少的通用替代标志物，因此除了SCID之外，还能识别出其他病症。因此，可能需要重新考虑将目标疾病最初定义为“SCID”，并将其扩展为“SCID和严重T淋巴细胞减少”。尽管在全欧洲实现基于TREC的NBS项目的完全统一仍具有挑战性，但合作与紧密伙伴关系将有助于朝着对所有新生儿进行基于TREC的普遍筛查迈进，从而每年能检测出更多患有SCID和严重T淋巴细胞减少的婴儿。
