ArticleInternational journal of neonatal screening2018
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.
Article in International journal of neonatal screening, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Long-term clinical outcomes of neonatal cystic fibrosis presentation: a single-center retrospective study.European journal of pediatrics · 2026Observational
- The response of rare CFTR mutations to specific modulator combinations.ERJ open research · 2025Article
- Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes.International journal of neonatal screening · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.International journal of neonatal screening · 2024Article
- IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population.Cadernos de saude publica · 2024Observational
- Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers.European journal of pediatrics · 2023Article
- Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.International journal of neonatal screening · 2022Article
- Faecal calprotectin and rectal histological inflammatory markers in cystic fibrosis: a single-centre study.BMJ paediatrics open · 2022Article
- Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Molecular genetics & genomic medicine · 2021Article
- [Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.]Revista espanola de salud publica · 2020Article
- Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses.International journal of neonatal screening · 2020Review
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
- Newborn Screening for CF across the Globe-International journal of neonatal screening · 2020Review
- A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).BMC pediatrics · 2020Review
- Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis.Frontiers in physiology · 2020Article
- Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT.International journal of neonatal screening · 2019Article
- The Potential of Self-Management mHealth for Pediatric Cystic Fibrosis: Mixed-Methods Study for Health Care and App Assessment.JMIR mHealth and uHealth · 2019Review
- Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies.Jornal de pediatriaReview
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in the Portuguese population, to determine the incidence, and to contribute to elucidating the genetic epidemiology of CF in Portugal. This was a nationwide three-year pilot study including 255,000 newborns (NB) that were also screened for congenital hypothyroidism (CH) and 24 other metabolic disorders included in the Portuguese screening program. Most samples were collected in local health centers spread all over the country, between the 3rd and 6th days of life. The algorithm tested includes immunoreactive trypsinogen (IRT) determination, pancreatitis associated protein (PAP) as a second tier, and genetic study for cases referred to specialized clinical centers. Thirty-four CF cases were confirmed positive, thus indicating an incidence of 1:7500 NB. The p.F508del mutation was found in 79% of the alleles. According to the results presented here, CF-NBS is recommended to be included in the Portuguese NBS panel with a small adjustment regarding the PAP cut-off, which we expect to contribute to the improvement of the CF-NBS performance. According to our results, this algorithm is a valuable alternative for CF-NBS in populations with stringent rules for genetic studies.
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