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Published on: August 29, 2025
Newborn screening for cystic fibrosis is associated with reduced treatment intensity
Erika J Sims1, Jonathan McCormick, Gita Mehta
1United Kingdom Cystic Fibrosis Database, Division of Maternal and Child Health Sciences, Ninewells Hospital and Medical School, University of Dundee, Dundee, United Kingdom.
Insights
Newborn screening (NBS) for cystic fibrosis (CF) leads to less intensive therapy compared to clinical diagnosis (CD). This suggests NBS may reduce treatment burden without compromising care for CF patients.
Area of Science:
- Medical Research
- Pediatrics
- Genetics
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) aims for early detection.
- Understanding the impact of NBS on therapeutic interventions is crucial for optimizing patient management.
Purpose of the Study:
- To compare therapeutic interventions in CF patients diagnosed via NBS versus clinical diagnosis (CD).
- To investigate if early detection through NBS correlates with reduced treatment intensity.
Main Methods:
- An observational, cross-sectional study compared two cohorts of CF patients (1-9 years old) diagnosed by NBS or CD.
- Therapies (duration >3 months) and Pseudomonas aeruginosa infection status were analyzed.
- Patients were stratified into age groups (1-3, 4-6, 7-9 years) and analyzed by deltaF508 genotype.
Main Results:
- CF patients diagnosed by NBS received significantly fewer and less demanding therapies, particularly those under 6 years old.
- Fewer NBS patients received intravenous antibiotics, and those without P. aeruginosa infection had reduced therapy.
- No significant differences in therapy were observed between NBS and CD groups with chronic or intermittent P. aeruginosa infections.
Conclusions:
- CF patients diagnosed through NBS receive less treatment compared to age- and genotype-matched CD controls.
- NBS for CF may be associated with a reduced therapeutic burden.
Objectives:
To determine whether the improved clinical status after newborn screening (NBS) for cystic fibrosis (CF) segregates with increased therapeutic intervention compared with presentation by clinical diagnosis (CD).
Study Design:
In 2002, two populations (1 to 9 years of age) who presented (excluding meconium ileus) by NBS < or = 3 months of age or by CD were compared in an observational, cross-sectional design. NBS and CD populations (184 and 950 patients, respectively) were divided into 3-year age groups (1 to 3, 4 to 6, and 7 to 9 years). Therapies of duration >3 months were compared together with Pseudomonas aeruginosa infection status.
Results:
NBS patients < or = 6 years of age received significantly fewer and less demanding therapies not explained by age, genotype, geography, or social deprivation. In 7- to 9-year-olds, significantly fewer NBS patients received intravenous antibiotics. NBS patients without P aeruginosa infection received significantly fewer therapies, but no differences were found between intermittently or chronically infected NBS and CD populations. Comparable results were found in deltaF508/deltaF508 subpopulations.
Conclusions:
CF populations diagnosed by NBS are associated with reduced treatment compared with age- and genotype-matched CD control subjects.
