{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:39:57Z","timestamp":1760060397101,"version":"build-2065373602"},"reference-count":14,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:00:00Z","timestamp":1756252800000},"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>The implementation of newborn screening (NBS) has revolutionized the diagnostic landscape of cystic fibrosis (CF). In Portugal, NBS was initiated in October 2013 through a pilot study and was subsequently fully integrated into a nationwide program by December 2018. Infants with positive screening results are referred to a specialized CF reference center for diagnostic confirmation, employing Sweat Chloride Testing (SCT) and genetic testing for CFTR variants. We aimed to analyze infants with a positive CF screening and determine the false positive and false negative rates, as well as to calculate the positive predictive value and sensitivity of our NBS program. A retrospective nationwide analysis was conducted on infants with a positive NBS for CF between October 2013 and February 2023. Two hundred and forty infants were referred from the NBS program; 74 (30.8%) were confirmed to have CF through SCT and genetic testing. Sensitivity was 93.2%, and the positive predictive value (PPV) was 30.8%. In addition, 48.5% were homozygous for F508del variants, and 87.8% had at least one F508del variant. Guidelines set forth by the European Cystic Fibrosis Society advise NBS programs to achieve a minimum PPV of 30% and a minimum sensitivity of 95%. Our report demonstrated good compliance with these recommendations.<\/jats:p>","DOI":"10.3390\/ijns11030069","type":"journal-article","created":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:19:32Z","timestamp":1756282772000},"page":"69","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9414-3560","authenticated-orcid":false,"given":"Bernardo","family":"Camacho","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Hospital Dr. N\u00e9lio Mendon\u00e7a, 9000-177 Funchal, Portugal"}]},{"given":"Lu\u00edsa","family":"Pereira","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital Santa Maria, Unidade Local de Sa\u00fade Santa Maria, 1649-035 Lisbon, Portugal"}]},{"given":"Raquel","family":"Bragan\u00e7a","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital Dona Estef\u00e2nia, Unidade Local de Sa\u00fade de S\u00e3o Jos\u00e9, 1169-045 Lisbon, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0762-7730","authenticated-orcid":false,"given":"Susana","family":"Castanhinha","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital Dona Estef\u00e2nia, Unidade Local de Sa\u00fade de S\u00e3o Jos\u00e9, 1169-045 Lisbon, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8939-3861","authenticated-orcid":false,"given":"Raquel","family":"Penteado","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital Pedi\u00e1trico, Unidade Local de Sa\u00fade de Coimbra, 3000-602 Coimbra, Portugal"}]},{"given":"Teresa R.","family":"Silva","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital Pedi\u00e1trico, Unidade Local de Sa\u00fade de Coimbra, 3000-602 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7263-2353","authenticated-orcid":false,"given":"Pedro","family":"Miragaia","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital de S\u00e3o Jo\u00e3o, Unidade Local de Sa\u00fade S\u00e3o Jo\u00e3o, 4200-319 Porto, Portugal"}]},{"given":"S\u00f3nia","family":"Silva","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital de S\u00e3o Jo\u00e3o, Unidade Local de Sa\u00fade S\u00e3o Jo\u00e3o, 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1575-5006","authenticated-orcid":false,"given":"Ana L.","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Centro Materno Infantil do Norte, Unidade Local de Sa\u00fade Santo Ant\u00f3nio, 4050-651 Porto, Portugal"}]},{"given":"Telma","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Centro Materno Infantil do Norte, Unidade Local de Sa\u00fade Santo Ant\u00f3nio, 4050-651 Porto, Portugal"}]},{"given":"Cristina","family":"Freitas","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital Dr. N\u00e9lio Mendon\u00e7a, 9000-177 Funchal, Portugal"}]},{"given":"Juan","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital Divino Esp\u00edrito Santo, 9500-370 Ponta Delgada, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8549-166X","authenticated-orcid":false,"given":"Ana","family":"Marc\u00e3o","sequence":"additional","affiliation":[{"name":"Neonatal Screening Unit, National Institute of Health Dr Ricardo Jorge, 1649-016 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6186-779X","authenticated-orcid":false,"given":"Laura","family":"Vilarinho","sequence":"additional","affiliation":[{"name":"Neonatal Screening Unit, National Institute of Health Dr Ricardo Jorge, 1649-016 Porto, Portugal"}]},{"given":"Celeste","family":"Barreto","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital Santa Maria, Unidade Local de Sa\u00fade Santa Maria, 1649-035 Lisbon, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6596-1596","authenticated-orcid":false,"given":"Carolina","family":"Constant","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Reference Centre, Department of Paediatrics, Hospital Santa Maria, Unidade Local de Sa\u00fade Santa Maria, 1649-035 Lisbon, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,27]]},"reference":[{"key":"ref_1","unstructured":"Cystic Fibrosis Foundation Patient Registry 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Nutr."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.jcf.2014.08.001","article-title":"Early detection of infection with Pseudomonas aeruginosa in cystic fibrosis: The Holy Grail or an achievable goal?","volume":"13","author":"Taccetti","year":"2014","journal-title":"J. Cyst. Fibros."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.jcf.2005.05.018","article-title":"Eradication of early Pseudomonas aeruginosa infection","volume":"4","author":"Hansen","year":"2005","journal-title":"J. Cyst. Fibros."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"113595","DOI":"10.1016\/j.jpeds.2023.113595","article-title":"Late diagnosis in the era of universal newborn screening negatively affects short- and long-term growth and health outcomes in infants with cystic fibrosis","volume":"262","author":"Martiniano","year":"2023","journal-title":"J. Pediatr."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/3\/69\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:33:30Z","timestamp":1760034810000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/3\/69"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,27]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["ijns11030069"],"URL":"https:\/\/doi.org\/10.3390\/ijns11030069","relation":{},"ISSN":["2409-515X"],"issn-type":[{"type":"electronic","value":"2409-515X"}],"subject":[],"published":{"date-parts":[[2025,8,27]]}}}