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.

中文翻译：

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欧洲新生儿 SCID 和重度 T 淋巴细胞减少症筛查。


欧洲新生儿筛查 （NBS） 计划的启动可以追溯到 1960 年代。NBS 计划的最新扩展之一是增加了基于 T 细胞受体切除环 （TREC） 检测的严重联合免疫缺陷 （SCID）。在这篇评论中，我们概述了欧洲的现状。为避免仅基于已发布结果的偏见概述，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。我们收集了 38 个国家/地区的数据，回复率为 83%。在完成调查的 38 个欧洲国家中，有 17 个国家在国家或地区实施了基于 TREC 的 NBS。调查结果强调了基于 TREC 的 NBS 的相似性和差异性以及共同的做法和挑战。由于 TREC 是严重 T 淋巴细胞减少症的一般替代标志物，因此还可以确定 SCID 以外的疾病。因此，可能需要重新考虑将目标疾病的初始定义为 “SCID” 并扩展为 “SCID 和重度 T 淋巴细胞减少症”。尽管在欧洲完全协调基于 TREC 的 NBS 计划仍然具有挑战性，但合作和密切的伙伴关系将有助于对所有新生儿进行基于 TREC 的普遍筛查，从而每年检测到更多的 SCID 和严重 T 淋巴细胞减少症婴儿。