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Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

Michael J Coffey1, Viola Whitaker1, Natalie Gentin2

  • 1School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, Australia.

The Journal of Pediatrics
|November 14, 2016
PubMed

Insights

Children with late-diagnosed cystic fibrosis (CF) despite newborn screening (NBS) show worse respiratory and growth outcomes. This highlights the importance of robust NBS programs for early CF detection and intervention.

Area of Science:

  • Pediatric Pulmonology
  • Newborn Screening
  • Genetic Disorders

Background:

  • Newborn screening (NBS) aims for early detection of cystic fibrosis (CF).
  • However, some infants are diagnosed late (LD-CF) despite NBS, necessitating further investigation.
  • Understanding outcomes in LD-CF is crucial for optimizing screening protocols.

Purpose of the Study:

  • To evaluate clinical outcomes in children with LD-CF compared to those diagnosed via NBS (NBS-CF).
  • To identify differences in health status at diagnosis and subsequent clinical course.

Main Methods:

  • Retrospective review of LD-CF cases in New South Wales, Australia (1988-2010).
  • LD-CF defined as NBS-negative or NBS-positive with sweat chloride < 60 mmol/L.
  • Matched 1:2 comparison with NBS-CF controls based on age, sex, hospital, and exocrine pancreatic status.

Main Results:

  • 45 LD-CF cases identified, with a median diagnosis age of 1.35 years vs. 0.12 years for NBS-CF (P<.0001).
  • LD-CF patients exhibited more respiratory issues at diagnosis (66% vs 4%), higher hospital admission rates, worse lung function, and increased Pseudomonas aeruginosa colonization.
  • LD-CF cohort showed poorer growth (shorter height z-score).

Conclusions:

  • Late diagnosis of CF, even with NBS, is linked to poorer health outcomes and growth.
  • These findings reinforce the critical role of NBS programs in early CF detection and management.
  • Optimizing NBS protocols may further reduce the incidence and impact of LD-CF.
Abstract

Keywords:
Australiacystic fibrosis transmembrane conductance regulatorgrowthlung function

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