Pulmonary outcome differences in U.S. and French cystic fibrosis cohorts diagnosed through newborn screening

Abstract

Background A comparison of the longitudinal progression of lung disease in cystic fibrosis patients identified through newborn screening (NBS) in cohorts located in two different countries has never been performed and was the primary objective of this study. Methods The study included 56 patients in Brittany diagnosed through NBS between 1989 and 1994 and 69 similar patients in Wisconsin between 1985 and 1994. The onset and progression of lung disease was radiographically quantified using the Wisconsin Chest X-ray (WCXR) scoring system. A single pediatric pulmonologist blinded to all identifiers scored the films. Results Generalized estimating equation analyses adjusted for age, genotype, sex, pancreatic insufficiency, and meconium ileus showed worse WCXR scores in Brittany patients compared to Wisconsin patients (average score difference=4.48; p<0.001). Percent predicted FEV1 was also worse among Brittany patients (p<0.001). Conclusions The finding of milder radiographically-quantified lung disease using the WCXR scoring system, as well as better FEV1 values, may be explained by variations in nutrition, environmental exposures, or healthcare delivery.

Rate of improvement of CF life expectancy exceeds that of general population—Observational death registration study

“…CF-related survival differences between countries are difficult to explain and have been variably ascribed to differences in rates of care in specialised centres [7] (with centralised care said to confer an advantage [8] ), distribution of CF genotypes [9] , antibiotic regimens to treat or prevent infection and variations in nutrition and environmental exposure [10] . Countries also vary in rates of diagnosis [11] and it is also clear that the prevalence of CF has reduced since the introduction of newborn screening [12] , the implementation of which has varied between countries.…”

Cystic fibrosis in young children: A review of disease manifestation, progression, and response to early treatment

“…Progression of disease continued throughout childhood, including worsening of airway resistance [45], airway inflammation [78], air trapping [45,124], lung structure [35,40,43,[123][124][125][126], lung function (Fig. 2) [58,61,63,66,112,123], and nutrient deficiencies [127,128].…”

“…Progression of disease continued throughout childhood, including worsening of airway resistance [45], airway inflammation [78], air trapping [45,124], lung structure [35,40,43,[123][124][125][126], lung function (Fig. 2) [58,61,63,66,112,123], and nutrient deficiencies [127,128]. Accumulation of lung damage was evident by 1 year of age [36,123,124], and lung structure and function worsened significantly each year of life in young children aged 0 to 6 years [35,43,58,123,124].…”

“…2) [58,61,63,66,112,123], and nutrient deficiencies [127,128]. Accumulation of lung damage was evident by 1 year of age [36,123,124], and lung structure and function worsened significantly each year of life in young children aged 0 to 6 years [35,43,58,123,124]. One study, however, reported that although 4 spirometric measures of lung function all worsened between ages 0 to 5 years and 6 to 16 years, they worsened by a significant amount from measures recorded in younger age groups only at ages older than 16 years [40].…”

Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis

“…Furthermore, there is a lack of documented evidence that survival or lung function are better in countries with CF NBS than in those without screening. In comparison, differences in treatment practices across countries and centers unrelated to NBS can result in large differences in the magnitudes of clinical outcomes in CF [ 98 , 99 ].…”