Does newborn screening improve early lung function in cystic fibrosis?
1UCL Great Ormond Street Institute of Child Health, London, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Insights
Newborn screening for cystic fibrosis (CF) improves nutrition but its effect on early lung function remains unclear. More research is needed to understand the full impact of CF newborn screening on respiratory health.
Area of Science:
- Pulmonary Medicine
- Genetics
- Pediatrics
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) has demonstrated benefits in nutritional outcomes.
- The impact of NBS on early pulmonary outcomes in CF patients is less understood.
- Evaluating NBS effects on lung function is complicated by evolving clinical practices and public health interventions.
Purpose of the Study:
- To review methods for measuring early lung function in CF.
- To summarize knowledge gained from CF NBS cohorts regarding pulmonary outcomes.
- To compare pulmonary outcomes between infants diagnosed via NBS and those diagnosed symptomatically.
Main Methods:
- Review of studies on early lung function measurement in CF NBS cohorts.
- Analysis of comparative studies between NBS and symptomatic diagnosis groups.
- Assessment of evidence on the impact of NBS on pulmonary outcomes.
Main Results:
- Evidence for improved nutritional outcomes in CF NBS is established.
- Data on the impact of NBS on early lung function is currently insufficient for firm conclusions.
- Spirometry alone may lack sensitivity for detecting early lung disease in CF.
Conclusions:
- There is insufficient evidence to definitively conclude the effect of NBS on early lung function in CF.
- Future highly effective CF treatments may allow for earlier intervention, potentially revealing the full impact of NBS on lung function.
- Further research is required to elucidate the long-term pulmonary benefits of early CF detection through NBS.
Abstract:
Despite evidence showing an improvement in nutritional outcomes following diagnosis by newborn screening (NBS) for cystic fibrosis (CF), the impact on pulmonary outcomes has been less clear. In this review the approaches to measurement of early lung function and knowledge gained from NBS CF cohorts will be described. Studies which have compared outcomes in those diagnosed by NBS to those diagnosed following symptomatic presentation will be presented. Compiling the evidence base used to evaluate the impact of NBS on pulmonary outcomes has been complicated by improvements in clinical management, infection control practices, as well as public health interventions (such as tobacco smoking bans in public places) that have evolved substantially over recent decades. Forced expiratory volumes have been used as the main outcome but it is important not to draw conclusions for 'early lung function' from tests such as spirometry alone, which lack sensitivity in early lung disease. There is, at present, insufficient evidence to draw firm conclusions about the effect of NBS on early lung function. In an era of highly effective treatments targeting the underlying molecular defect responsible for CF, future opportunities for early initiation of treatment may mean that the impact of NBS on early lung function may yet to be realised.
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