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.
- Klíčová slova
- Europe, IEI, NBS, Newborn screening, SCID, TREC, inborn errors of immunity, severe T lymphocytopenia, severe combined immunodeficiency,
- MeSH
- lidé MeSH
- lymfopenie * diagnóza epidemiologie MeSH
- novorozenec MeSH
- novorozenecký screening * metody MeSH
- receptory antigenů T-buněk genetika MeSH
- T-lymfocyty * imunologie MeSH
- těžká kombinovaná imunodeficience * diagnóza epidemiologie genetika MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Geografické názvy
- Evropa epidemiologie MeSH
- Názvy látek
- receptory antigenů T-buněk MeSH
