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Canadian Journal of Public Health

, Volume 108, Issue 3, pp e335–e337 | Cite as

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

  • Léticia KhendekEmail author
Commentary
  • 3 Downloads

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 

Résumé

Le dépistage néonatal de la fibrose kystique, une maladie à forte charge de morbidité, est offert partout en Amérique du Nord sauf au Québec. Diagnostiquée une fois l’apparition de symptômes, cette maladie est caractérisée par des infections chroniques et un déclin de la fonction respiratoire menant à une éventuelle insuffisance respiratoire. Malgré un taux de prévalence jusqu’à trois fois plus élevé que la moyenne canadienne, la province n’a toujours pas de programme de dépistage de la fibrose kystique pour ses nouveaux-nés. Cependant, une nouvelle étude comparant les patients du Québec à ceux d’autres provinces au pays démontre que le dépistage est associé à de meilleurs états nutritionnels et niveaux de croissance ainsi qu’à de plus bas taux d’hospitalisations et d’infections, contribuant à prévenir la détérioration pulmonaire au fil des années. Ainsi, cette étude semble confirmer les bénéfices et la pertinence de l’implantation d’un programme de dépistage néonatal pour la fibrose kystique dans la province.

Mots Clés

fibrose kystique dépistage neonatal insuffisance respiratoire qualité de vie 

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Copyright information

© The Canadian Public Health Association 2017

Authors and Affiliations

  1. 1.McGill Faculty of MedicineMcIntyre BuildingMontrealCanada

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