Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the
F Nicole Dijk1, Karen McKay, Federica Barzi
1Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, Australia.
Insights
Newborn screening (NBS) for cystic fibrosis (CF) significantly improves lung function, nutritional status, and survival into early adulthood. Early CF diagnosis via NBS leads to better long-term health outcomes.
Area of Science:
- Pediatric Pulmonology
- Newborn Screening
- Genetic Disease Management
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) is linked to better early nutrition and lung function in children.
- Early diagnosis and treatment of CF through NBS may improve long-term clinical outcomes and survival.
Purpose of the Study:
- To evaluate the long-term clinical outcomes and survival rates of individuals with cystic fibrosis diagnosed through NBS in New South Wales.
- To compare clinical outcomes and survival up to early adulthood between CF patients screened at birth and those diagnosed later.
Main Methods:
- A retrospective observational study comparing two cohorts of CF patients born before (non-screened) and after (screened) the introduction of NBS.
- Patient records were analyzed at transfer to adult care (age 19), with survival data tracked to age 25.
Main Results:
- Screened patients exhibited a lower rate and later age of Pseudomonas aeruginosa acquisition compared to non-screened individuals.
- Screened patients showed significantly better height, weight, BMI z-scores, and FEV(1)% at transfer to adult care.
- Improved FEV(1)% and BMI were independently associated with a reduced risk of death, contributing to significantly better survival rates at age 25 in the screened group.
Conclusions:
- Newborn screening for cystic fibrosis results in enhanced lung function and nutritional status in early adulthood.
- NBS for CF is associated with improved survival rates into early adulthood.
Background:
Newborn screening (NBS) for cystic fibrosis (CF) is associated with improved early nutritional outcomes and improved spirometry in children. The aim of this study was to determine whether early diagnosis and treatment of CF with NBS in New South Wales in 1981 led to better clinical outcomes and survival into early adulthood.
Methods:
Retrospective observational study comprising two original cohorts born in the 3 years before ('non-screened cohort', n=57) and after ('screened'; n=60) the introduction of NBS. Patient records were assessed at transfer from paediatric to adult care by age 19 years and survival was documented to age 25 years.
Results:
Non-screened patients (n=38) when compared with screened patients (n=41) had a higher rate and lower age of Pseudomonas aeruginosa acquisition at age 18 years (p ≤ 0.01). Height, weight and body mass index (BMI) z scores (all p<0.01) and forced expiratory volume in 1 s (FEV(1))% were better in the screened group (n=41) (difference: 16.7 ± 6.4%; p=0.01) compared to non-screened (n=38) subjects on transfer to adult care. Each 1% increase in FEV(1)% was associated with a 3% (95% CI 1% to 5%; p=0.001) decrease in risk of death and each 1.0 kg/m(2) increase in BMI contributed to a 44% (95% CI 31% to 55%; p<0.001) decrease in risk of death. This accumulated in a significant survival difference at age 25 years (25 vs 13 deaths or lung transplants; p=0.01).
Conclusion:
NBS for CF leads to better lung function, nutritional status and improved survival in screened patients in early adulthood.
More Related Videos
Related Concept Videos
01:24Cystic Fibrosis: Management
Sinus disease and chronic...
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...