Newborn screening for cystic fibrosis: Is there benefit for everyone?. (August 2019)

• Record Type: Journal Article
• Authors: Course, C.W.; Hanks, R.
• Is Part Of: Paediatric respiratory reviews. Volume 31(2019)
• Page Start: 3
• Page End: 5
• Publication Date: 2019-08
• Subjects: Cystic fibrosis -- Screening -- Genetics; Pediatric respiratory diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory Therapy -- Periodicals; Child -- Periodicals; Appareil respiratoire -- Infections, chez l'enfant -- Périodiques; Appareil respiratoire -- Maladies, chez l'enfant -- Périodiques; 618.922
• DOI: 10.1016/j.prrv.2019.02.003
• Languages: English
• ISSNs: 1526-0542

Abstract

Abstract: Newborn screening for cystic fibrosis (CF) has become a widely accepted and endorsed public health strategy in economically developed countries, although there is little consensus on optimal screening methods and gene panels. Increasing understanding of CFTR genetics and consequent unpredictability of phenotypic and clinical outcomes lead to diagnostic uncertainty, and emergence of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CF-SPID). Many of these children are clinically well or have a mild phenotype yet may still experience the psychosocial impact of a CF diagnosis. This questions the role of newborn screening and how best to manage those it identifies with CF-SPID.