{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T17:33:22Z","timestamp":1771263202624,"version":"3.50.1"},"reference-count":29,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005881","name":"Ministry of Human Capacities","doi-asserted-by":"publisher","award":["10541-4\/2019\/EGST"],"award-info":[{"award-number":["10541-4\/2019\/EGST"]}],"id":[{"id":"10.13039\/501100005881","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) CFNBS protocol (IRT\/IRT\u00d7PAP\/IRT) was applied with an IRT-dependent safety net (SN). Out of 88,400 newborns, 256 were tested screen-positive. Fourteen cystic fibrosis (CF) and two cystic fibrosis-positive inconclusive diagnosis (CFSPID) cases were confirmed from the screen-positive cases, and two false-negative cases were diagnosed later. Based on the obtained results, a sensitivity of 88% and a positive predictive value (PPV) of 5.9% were calculated. Following the recognition of false-negative cases, the calculation method of the age-dependent cut-off was changed. In purely biochemical CFNBS protocols, a small protocol change, even after a short period, can have a significant positive impact on the performance. CFNBS should be monitored continuously in order to fine-tune the screening strategy and define the best local practices.<\/jats:p>","DOI":"10.3390\/ijns9030047","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T10:29:29Z","timestamp":1692786569000},"page":"47","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Neonatal Screening for Cystic Fibrosis in Hungary\u2014First-Year Experiences"],"prefix":"10.3390","volume":"9","author":[{"given":"Andrea","family":"Xue","sequence":"first","affiliation":[{"name":"Paediatric Centre, MTA Centre of Excellence, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Istv\u00e1n","family":"L\u00e9n\u00e1rt","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Kincs","sequence":"additional","affiliation":[{"name":"Paediatric Centre, MTA Centre of Excellence, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajnalka","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"P\u00e1rniczky","sequence":"additional","affiliation":[{"name":"Heim P\u00e1l National Paediatric Institute, 1089 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3397-2829","authenticated-orcid":false,"given":"Istv\u00e1n","family":"Balogh","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"De\u00e1k","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter B\u00e9la","family":"Monostori","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisztina","family":"Heged\u0171s","sequence":"additional","affiliation":[{"name":"Paediatric Centre, MTA Centre of Excellence, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila J.","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Paediatric Centre, MTA Centre of Excellence, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1040-145X","authenticated-orcid":false,"given":"Ildik\u00f3","family":"Szatm\u00e1ri","sequence":"additional","affiliation":[{"name":"Paediatric Centre, MTA Centre of Excellence, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e154","DOI":"10.3928\/19382359-20190327-01","article-title":"Review of Cystic Fibrosis","volume":"48","author":"Goetz","year":"2019","journal-title":"Pediatr. 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