Cystic fibrosis newborn screening: using experience to optimize the screening algorithm

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S255-61. doi: 10.1007/s10545-010-9117-3. Epub 2010 Jun 3.


Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT)-DNA algorithm. Ideally, CF NBS is incorporated as part of an integrated NBS system that allows for comprehensive and coordinated education, laboratory screening, clinical follow-up, and evaluation so that evidence-based data can be used to maximize quality improvements and optimize the screening algorithm. The New England Newborn Screening Program (NENSP) retrospectively analyzed Massachusetts's CF newborn screening data that yielded decisions to eliminate a screen-positive category, maintain the IRT cutoff value that prompts the second tier DNA testing, and communicate CF relative risk to primary care providers (PCPs) based on categorization of positive CF NBS results.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Algorithms*
  • Biomarkers / blood
  • Chlorides / analysis
  • Cystic Fibrosis / blood
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • DNA Mutational Analysis
  • Genetic Testing
  • Humans
  • Immunoassay
  • Infant, Newborn
  • Massachusetts
  • Mutation
  • Neonatal Screening* / methods
  • Predictive Value of Tests
  • Primary Health Care
  • Program Development
  • Program Evaluation
  • Quality Indicators, Health Care
  • Retrospective Studies
  • Sweat / chemistry
  • Trypsinogen / blood


  • Biomarkers
  • CFTR protein, human
  • Chlorides
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Trypsinogen