The First 4 Years - Outcome of Children Identified by Newborn Screening for CF in Germany
Katharina Schütz1,2, Julia Kontsendorn1, Nils Janzen3
1Department of Paediatric Pulmonology, Allergology and Neonatology, Hannover Medical School Centre for Paediatrics and Adolescent Medicine, Hannover, Deutschland.
Insights
Newborn screening for cystic fibrosis (CF) leads to earlier diagnosis and better nutritional outcomes in children. While lung damage trajectories were unaffected, NBS patients showed fewer pulmonary exacerbations and less harmful bacteria early on.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) is widely implemented globally.
- This study evaluates the benefits of NBS by comparing CF patients diagnosed via NBS with those diagnosed before its implementation in Germany.
Purpose of the Study:
- To assess the impact of NBS on the clinical outcomes of children with CF.
- To compare anthropometric, gastrointestinal, pulmonary, and microbiological manifestations between NBS-diagnosed and pre-NBS diagnosed CF patients.
Main Methods:
- A monocentric study comparing 19 children diagnosed via NBS with 29 children diagnosed before NBS implementation.
- Outcomes assessed included anthropometry, disease manifestations, and respiratory microbiology.
Main Results:
- NBS-diagnosed children had less initial difficulty thriving and better BMI, weight, and length z-scores.
- Pre-NBS group showed more oxygen-dependent pulmonary exacerbations and higher rates of Pseudomonas aeruginosa in throat swabs.
- Pulmonary imaging did not show reduced lung damage in the NBS group.
Conclusions:
- NBS for CF improves early diagnosis and nutritional status in young children.
- NBS positively impacts pulmonary exacerbations and bacterial colonization in preschool-aged CF patients.
- Structural lung damage progression in early childhood was not significantly affected by NBS.
Background:
Newborn screening (NBS) has been shown to improve cystic fibrosis (CF) disease course and has been widely implemented worldwide. This monocentric study compared children diagnosed by NBS vs. a cohort preceding the implementation of NBS in Germany in 2016 to evaluate ascribed benefits of NBS.
Methods:
We compared all children with confirmed CF diagnosis (n=19, "NBS group") out of all children presenting with positive NBS at our center after implementation of NBS (n=100) to children diagnosed with CF at our center within 4 years before NBS implementation (n=29, "pre-NBS group") for outcomes of anthropometry, gastrointestinal and pulmonary disease manifestations and respiratory microbiology.
Results:
Children diagnosed by NBS had a lower incidence of initial difficulty to thrive (15 vs. 41%) and showed higher mean z-scores for Body-Mass-Index (BMI), weight and length at diagnosis and during study period. Children in the pre-NBS group displayed higher proportions of oxygen-dependent pulmonary exacerbations (10 vs. 0%). They show a significantly lower amount of normal bacterial flora (p=0.005) along with a significantly higher number of throat swab cultures positive for Pseudomonas aeruginosa (p=0.0154) in the first year of life. Yet, pulmonary imaging did not reveal less pulmonary morbidity in the NBS group.
Conclusions:
Our results confirm that NBS for CF leads to earlier diagnosis and improves nutritional outcomes in early childhood. Although trajectories of structural lung damage at early age were unaffected by NBS, NBS positive CF patients at preschool age displayed less pulmonary exacerbations and pathological bacteria in throat swabs.
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