title: Cystic Fibrosis Diagnosis and Newborn Screening.
abstract: The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults.
authors.affiliation: Division of Pulmonary Medicine, Seattle Children's Hospital, University of Washington School of Medicine, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA. Electronic address: margaret.rosenfeld@seattlechildrens.org.
authors.forename: Margaret
authors.initials: M
authors.lastname: Rosenfeld
authors.affiliation: Department of Epidemiology, Colorado School of Public Health, Anshutz Medical Center, University of Colorado, 13001 East 17th, Aurora, CO 80045, USA.
authors.forename: Marci K
authors.initials: MK
authors.lastname: Sontag
authors.affiliation: Section of Pediatric Pulmonology, Allergy, and Sleep Medicine, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, ROC 4270, Indianapolis, IN 46202, USA.
authors.forename: Clement L
authors.initials: CL
authors.lastname: Ren
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Cystic fibrosis; Diagnosis; Mutation; Newborn screening; Sweat chloride