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Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience

Elinor Langfelder-Schwind1, Denise M Kay2, Maria Berdella1

  • 1Lenox Hill Hospital, Northwell Health System, New York, New York, USA.

Pediatric Pulmonology
|May 2, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
CFTR panelCFTR sequencingCystic Fibrosis Newborn ScreeningIRT‐DNA algorithmIRT‐DNA‐SEQ algorithmquality improvement

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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