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Newborn screening for cystic fibrosis
Jeffrey S Wagener1, Edith T Zemanick, Marci K Sontag
1University of Colorado School of Medicine, Aurora, Colorado, USA. jeffrey.wagener@ucdenver.edu
Insights
Newborn screening for cystic fibrosis (CF) offers early identification and treatment opportunities. This review addresses challenges in CF screening, including carrier detection and inconclusive diagnoses, to improve management strategies.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Newborn screening for cystic fibrosis (CF) is now a global standard.
- The expansion of CF screening has highlighted new challenges for healthcare providers.
- Existing literature identifies these challenges and proposes management strategies.
Purpose of the Study:
- To review recent publications on newborn screening for cystic fibrosis.
- To provide an overview of challenges encountered in CF screening programs.
- To offer insights and management ideas for healthcare providers.
Main Methods:
- Systematic review of publications on newborn screening for CF.
- Analysis of challenges related to DNA mutation analysis, carrier detection, and inconclusive diagnoses.
- Examination of early findings in CF-related metabolic syndrome (CRMS) and CF pathophysiology.
Main Results:
- Newborn screening algorithms primarily use DNA mutation analysis.
- Expanded screening has revealed challenges in carrier detection and diagnosis.
- The natural history of CRMS is unpredictable, and optimal CF therapy in infants requires further study.
Conclusions:
- Newborn screening enables early identification and treatment of CF.
- While no single optimal screening approach exists, findings on sweat testing, carrier detection, and pathophysiology are beneficial.
- Continued research is needed to establish optimal therapies and clinical outcome recommendations for infants identified through newborn screening.
Purpose Of Review:
Newborn screening for cystic fibrosis (CF) is now universal in the US and many other countries. The rapid expansion of screening has resulted in numerous publications identifying new challenges for healthcare providers. This review provides an overview of these publications and includes ideas on managing these challenges.
Recent Findings:
Most CF newborn screening algorithms involve DNA mutation analysis. As screening has expanded, new challenges have been identified related to carrier detection and inconclusive diagnoses. Early descriptions of infants with CF-related metabolic syndrome (CRMS) indicate that the natural history of this condition cannot be predicted. Early identification has also provided an opportunity to better understand the pathophysiology of CF. However, few studies have been conducted in infants with CF to determine optimal therapy and recommendations are largely anecdotal.
Summary:
Newborn screening provides an opportunity to identify and begin treatment early in individuals with CF. Whereas a single, optimal approach to screening does not exist, all programs can benefit from new findings regarding sweat testing, carrier detection, early pathophysiology, and clinical outcomes.
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