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Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes

2025-08-27Artigo científico Acesso aberto
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datacite.subject.fosCiências Médicas::Ciências da Saúde
dc.contributor.authorCamacho, Bernardo
dc.contributor.authorPereira, Luísa
dc.contributor.authorBragança, Raquel
dc.contributor.authorCastanhinha, Susana
dc.contributor.authorPenteado, Raquel
dc.contributor.authorSilva, Teresa Reis
dc.contributor.authorMiragaia, Pedro
dc.contributor.authorSilva, Sónia
dc.contributor.authorCardoso, Ana L.
dc.contributor.authorBarbosa, Telma
dc.contributor.authorFreitas, Cristina
dc.contributor.authorGonçalves, Juan
dc.contributor.authorMarcão, Ana
dc.contributor.authorVilarinho, Laura
dc.contributor.authorBarreto, Celeste
dc.contributor.authorConstant, Carolina
dc.date.accessioned2026-01-29T12:50:57Z
dc.date.available2026-01-29T12:50:57Z
dc.date.issued2025-08-27
dc.description.abstractThe 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.eng
dc.identifier.citationInt J Neonatal Screen. 2025 Aug 27;11(3):69. doi: 10.3390/ijns11030069
dc.identifier.doi10.3390/ijns11030069
dc.identifier.eissn2409-515X
dc.identifier.pmid40981300
dc.identifier.urihttp://hdl.handle.net/10400.18/10786
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.hasversionhttps://www.mdpi.com/2409-515X/11/3/69
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectNewborn Screening
dc.subjectCystic Fibrosis
dc.subjectDoenças Genéticas
dc.subjectFibrose Quística
dc.subjectRastreio Neonatal
dc.subjectPortugal
dc.titleEvaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomeseng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue3
oaire.citation.startPage69
oaire.citation.titleInternational Journal of Neonatal Screening
oaire.citation.volume11
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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