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Long-term Outcomes of Pediatric CFSPID: A 15-Year Clinical and Genomic Study Across Newborn Screening Cystic Fibrosis Units.

Archivos de bronconeumologia - 1 Apr 2026

Morales-Tirado Ana, Blitz-Castro Enrique, Tabares-González Ana, Gascón-Galindo Celia, Vicente-Santamaría Saioa, Luna-Paredes Carmen, Salcedo-Lobato Enrique, Boutry Simon, Lamas-Ferreiro Adelaida

Abstract excerpt

BACKGROUND: Newborn blood spot screening (NBS) for cystic fibrosis (CF) increasingly identifies infants with inconclusive results, classified as CF screen-positive inconclusive diagnosis (CFSPID). However, long-term outcome data remain limited. OBJECTIVE: To analyze the clinical and biochemical course of children with CFSPID. METHODS: We conducted a bi-center observational cohort study including all children...

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Chlorides
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Feces
Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Neonatal Screening

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PMID: 41580343
DOI: 10.1016/j.arbres.2025.12.010

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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