Related Experiment Videos
Neonatal screening for cystic fibrosis: long-term clinical balance
G Mastella1, L Zanolla, C Castellani
1Cystic Fibrosis Center, Verona Hospital, Verona, Italy. gianni.mastella@mail.azosp.vr.it
Insights
Neonatal screening for cystic fibrosis (CF) shows improved survival and nutritional status in diagnosed patients. While not definitive, these findings suggest screening programs benefit CF outcomes.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Limited conclusive studies exist on the long-term clinical benefits of neonatal screening for cystic fibrosis (CF).
- This report presents preliminary findings from two observational cohort studies investigating the impact of CF diagnosis modalities.
Purpose of the Study:
- To evaluate the long-term clinical advantages of neonatal screening programs for cystic fibrosis (CF).
- To compare clinical outcomes based on different methods of CF diagnosis, including screening versus symptom-based detection.
Main Methods:
- Two observational cohort studies were conducted, analyzing CF patients diagnosed through various methods (newborn screening, meconium ileus, symptom presentation).
- Long-term follow-up (up to 26 years) included survival analysis (Kaplan-Meier, Cox model) and nutritional status assessment (weight, height, BMI).
- A comparative analysis was performed between a region with a neonatal screening program and one with early symptom-based diagnosis.
Main Results:
- Patients diagnosed via newborn screening (CF with pancreatic insufficiency) demonstrated improved survival and nutritional status compared to those diagnosed later.
- Patients with mild CF genotypes diagnosed symptomatically had the best outcomes.
- The cohort from a region with a neonatal screening program showed significantly better survival and nutritional status over 16 years.
Conclusions:
- While observational studies have limitations, the accumulated data strongly suggest a clinical benefit for cystic fibrosis patients diagnosed through neonatal screening programs.
- Early detection via screening appears to contribute to better long-term clinical outcomes in CF patients.
Background/Aims:
Very few studies have been performed on the long-term clinical advantages of neonatal screening programs for cystic fibrosis (CF) and these have been inconclusive. This is a preliminary report of two observational cohort studies on this subject.
Methods:
In the first study, CF patients born between 1973 and 1981 in northeastern Italy were split into 4 groups according to the modality of diagnosis: screening by meconium test (58 patients); meconium ileus (45 patients); symptoms and pancreatic insufficiency (PI; 75 patients), or symptoms and pancreatic sufficiency (PS; 19 patients). The patients were followed for up to 26 years by three CF centers sharing common treatment protocols. In the second study, two cohorts of CF patients born between 1983 and 1992 were compared. Patients from one cohort (126 patients) were born in the Veneto region, where a neonatal screening program had been established based on immunoreactive trypsinogen. Patients from the other cohort (152 patients) were born in Sicily, where an intensive program of early diagnosis by symptoms was implemented. The cohorts were comparable for CF incidence, CFTR genotypes, gender proportion and common treatment protocols. Statistical analyses were performed by Kaplan-Meier survival curves, a Cox proportional hazard model for survival and cross-sectional comparisons by 2-year periods for weight z score, height z score and body mass index.
Results:
In the first study, the patients detected by newborn screening (PI) showed better survival and nutritional status compared to patients diagnosed through meconium ileus or symptom presentation with PI. PS patients diagnosed by symptoms showed the best outcome, but most of them had a mild genotype. In the second study, the Veneto cohort showed better outcome with regard to survival and nutritional status over 16 years of follow-up.
Conclusions:
Observational cohort studies cannot give definitive evidence of the clinical benefit of neonatal CF screening; however, data have been accumulated which strongly suggest a better clinical outcome for CF patients born in an area where a screening program is performed.