{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T14:16:02Z","timestamp":1791728162544,"version":"4.3.4"},"reference-count":42,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (\u201cconditions\u201d) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS\/MS), making it possible to screen for 40\u201350 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.<\/jats:p>","DOI":"10.3390\/ijns7010015","type":"journal-article","created":{"date-parts":[[2021,3,7]],"date-time":"2021-03-07T21:52:15Z","timestamp":1615153935000},"page":"15","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":225,"title":["Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010"],"prefix":"10.3390","volume":"7","author":[{"given":"J. Gerard","family":"Loeber","sequence":"first","affiliation":[{"name":"International Society for Neonatal Screening (ISNS) Office, 3721CK Bilthoven, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitris","family":"Platis","sequence":"additional","affiliation":[{"name":"Department of Newborn Screening, Institute of Child Health, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3016-0019","authenticated-orcid":false,"given":"Rolf H.","family":"Zetterstr\u00f6m","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institute, SE-17 76 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shlomo","family":"Almashanu","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratories, Tel-HaShomer, 52621 Ramat Gan, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4470-9524","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Boemer","sequence":"additional","affiliation":[{"name":"CHU-Domaine du Sart Tilman, 4000 Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Bonham","sequence":"additional","affiliation":[{"name":"Sheffield Children\u2019s NHS Foundation Trust, Sheffield S10 2TH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Borde","sequence":"additional","affiliation":[{"name":"Laboratoire National de Sant\u00e9, 3555 Dudelange, Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Brincat","sequence":"additional","affiliation":[{"name":"Mater Dei Hospital, Tal-Qroqq Msida, MSD2090 Msida, 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