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Clinical outcomes of newborn screening for cystic fibrosis
D L Waters1, B Wilcken, L Irwing
1James Fairfax Institute of Paediatric Nutrition, Royal Alexandra Hospital for Children, Sydney, New South Wales, Australia.
Insights
Early diagnosis of cystic fibrosis through neonatal screening improves long-term health outcomes. Children identified early show better growth, lung function, and overall clinical scores by age 10.
Area of Science:
- Pediatric Pulmonology
- Medical Genetics
- Neonatal Screening Programs
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Neonatal screening aims for early detection and intervention in newborns.
- Long-term impacts of early CF diagnosis on clinical outcomes require evaluation.
Purpose of the Study:
- To assess the long-term clinical outcomes of children with cystic fibrosis diagnosed via neonatal screening.
- To compare growth, lung function, and Shwachman scores between screened and unscreened CF cohorts.
Main Methods:
- A retrospective observational study comparing two cohorts of children with CF.
- Cohort 1: Born before neonatal screening (1978-1981).
- Cohort 2: Born during the initial 3 years of screening (1981-1984).
- Follow-up to age 10, assessing height, weight, lung function (FEV1, FVC), chest X-rays, and Shwachman scores.
Main Results:
- Screened children had significantly higher height and weight standard deviation scores at age 10.
- Mean FEV1 and FVC were significantly higher in the screened group at ages 5 and 10.
- Screened patients showed improved Shwachman scores by age 10, while chest X-ray scores were similar.
Conclusions:
- Early treatment facilitated by neonatal CF screening is associated with improved long-term clinical outcomes.
- The findings support the benefits of neonatal screening for cystic fibrosis.
- Further validation through cluster randomized trials is recommended for countries considering screening implementation.
Aim:
To determine how early diagnosis of cystic fibrosis, using neonatal screening, affects long term clinical outcome.
Methods:
Fifty seven children with cystic fibrosis born before neonatal screening was introduced (1978 to mid 1981) and a further 60 children born during the first three years of the programme (mid 1981 to 1984), were followed up to the age of 10. The cohorts were compared on measures of clinical outcome, including height, weight, lung function tests, chest x-ray picture and Shwachman score.
Results:
Age and sex adjusted standard deviation scores (SDS) for height and weight were consistently higher in children screened for cystic fibrosis than in those born before screening. At 10 years of age, average differences in SDS between groups were 0.4 (95% CI -0.1, 0.8) for weight and 0.3 (95% CI -0.1, 0.7) for height. This translates to an average difference of about 2.7 cm in height and 1.7 kg in weight. Mean FEV1 and FVC (as percentage predicted) were significantly higher in the screened cohort at 5 and 10 years of age, with an average difference of 9.4% FEV1 (95% CI 0.8, 17.9) and 8.4% FVC (95% CI 1.8, 15.0) at 10 years. Chest x-ray scores were not different between the groups at any age, but by 10 years screened patients scored an average 5.3 (95% CI 1.2, 9.4) points higher on the Shwachman score.
Conclusion:
Although not a randomised trial, this long term observational study indicates that early treatment made possible by neonatal screening may be important in determining subsequent clinical outcomes for children with cystic fibrosis. For countries contemplating the introduction of neonatal screening for cystic fibrosis, its introduction to some areas in a cluster randomised design will permit validation of studies performed to date.