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Lookup NU author(s): Professor Andrew GenneryORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2024 The AuthorsInitiation 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.
Author(s): Blom M, Soomann M, Soler-Palacin P, Sediva A, Stray-Pedersen A, Zetterstrom R, Speckmann C, Gennery AR, van der Burg M
Publication type: Review
Publication status: Published
Journal: Journal of Allergy and Clinical Immunology
Year: 2025
Volume: 155
Issue: 2
Pages: 377-386
Print publication date: 01/02/2025
Online publication date: 06/11/2024
Acceptance date: 22/10/2024
ISSN (print): 0091-6749
ISSN (electronic): 1097-6825
Publisher: Elsevier Inc.
URL: https://doi.org/10.1016/j.jaci.2024.10.018
DOI: 10.1016/j.jaci.2024.10.018
PubMed id: 39510364
