Recommendations for Cystic Fibrosis Newborn Screening

Review of a California program identified challenges for providers, but resources for providers and families are available.

Newborn screening for cystic fibrosis (CF) has contributed much to our understanding of the disease and to identification of many cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations, some of which are not associated with clinical disease. California's pioneering newborn screening strategy for diagnosis of CF includes CFTR sequencing, requires detection of two mutations for screening to be considered positive, and recommends a sweat chloride test. Leaders in the field of CF reviewed 5 years of data from the California program and summarized their findings:

CF is a clinical diagnosis and cannot be based on genotype alone.
Predicting CF phenotype using genotype is not always reliable.
The Clinical and Functional Translation …

Reviewing Author

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

Recommendations for Cystic Fibrosis Newborn Screening

Topics

Reviewing Author