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Cystic fibrosis newborn screening in a high prevalence population - Ten years' experience in Ireland.

Respiratory medicine - 1 Jan 2026

McGuire Fiona, Collins Abigail, Elsammak Mohamed, O'Loughlin Mark, O'Grady Loretta, McDaid Jennifer, Rogers Melissa, Marsden Paul, Linnane Barry

Abstract excerpt

BACKGROUND: Ireland has one of the highest birth prevalences of cystic fibrosis (CF) in the world. Newborn screening (NBS) was introduced in July 2011 using an immunoreactive trypsinogen (IRT)/DNA protocol. Tier 1 identifies infants with IRT >99th centile, with samples sent for tier 2 testing against a 38 CF mutation panel (with R117H turned off). A "safety net" system whereby very high IRT values, with no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41386562
DOI: 10.1016/j.rmed.2025.108582

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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