Shining new light on newborn screening of cystic fibrosis in the province of Quebec

Abstract

Newborn screening of cystic fibrosis, a severe genetic disease with high treatment burden, is offered in all of North America with the exception of the province of Quebec. This condition, when diagnosed on symptomatic presentation, is marked by chronic infections and progressive lung function decline leading to eventual respiratory failure. Patients continue to have a median age of survival notably below the Canadian average. Despite prevalence rates of cystic fibrosis almost three times the national average in certain regions of Quebec, the province still does not offer screening to its newborns. However, the results of newly published research comparing patients from Quebec with those of other provinces has shown that screening is associated with better nutritional status and overall growth, lower hospitalization rates as well as fewer episodes of infection, hence contributing to the prevention of lung damage in the long term. This research appears to confirm the benefits and pertinence of implementing a neonatal screening program for patients with cystic fibrosis in the province.KEY WORDS: Cystic fibrosis; neonatal screening; respiratory insufficiency; quality of life La traduction du résumé se trouve à la fin de l'article.