Patrick Daigneault, MD
Centre Mère-Enfant Soleil du Centre hospitalier universitaire de Québec-Université Laval, Quebec City, QC
Newborn screening is an essential component of early patient care in cystic fibrosis, allowing for better disease outcomes. However, newborn screening programs for cystic fibrosis still face many challenges – whether organizational, technical or ethical – that need to be regularly addressed. Also, some cases remain challenging and ongoing research is interested in determining which of these children need to be reassessed. This session will discuss these challenges and how to face them.
At the end of this presentation, attendees will be able to:
- Better understand the role of newborn screening for cystic fibrosis in 2022;
- Learn about the various challenges faced by CF newborn screening programs; and
- Understand why some indeterminate cases and CFSPID patients need periodic reevaluations.
CanMEDS Roles Addressed: Health Advocate, Leader, Medical Expert