title: Newborn screening for cystic fibrosis.
abstract: OBJECTIVE
  Newborn screening for cystic fibrosis (CF) is now universal in the US and many other countries. The rapid expansion of screening has resulted in numerous publications identifying new challenges for healthcare providers. This review provides an overview of these publications and includes ideas on managing these challenges.
  
  
  RESULTS
  Most CF newborn screening algorithms involve DNA mutation analysis. As screening has expanded, new challenges have been identified related to carrier detection and inconclusive diagnoses. Early descriptions of infants with CF-related metabolic syndrome (CRMS) indicate that the natural history of this condition cannot be predicted. Early identification has also provided an opportunity to better understand the pathophysiology of CF. However, few studies have been conducted in infants with CF to determine optimal therapy and recommendations are largely anecdotal.
  
  
  CONCLUSIONS
  Newborn screening provides an opportunity to identify and begin treatment early in individuals with CF. Whereas a single, optimal approach to screening does not exist, all programs can benefit from new findings regarding sweat testing, carrier detection, early pathophysiology, and clinical outcomes.
authors.affiliation: University of Colorado School of Medicine, Aurora, Colorado, USA. jeffrey.wagener@ucdenver.edu
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Wagener
authors.forename: Edith T
authors.initials: ET
authors.lastname: Zemanick
authors.forename: Marci K
authors.initials: MK
authors.lastname: Sontag
mesh_terms: D015415:Biomarkers / Q000097:blood; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000628:therapy; D005189:False Positive Reactions; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D013542:Sweat / Q000737:chemistry; D014362:Trypsinogen / Q000097:blood
chemical_list: D015415:Biomarkers; D014362:Trypsinogen