Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs

Mol Genet Metab. 2021 Sep-Oct;134(1-2):65-67. doi: 10.1016/j.ymgme.2021.08.005. Epub 2021 Aug 15.

Abstract

The Colorado Newborn Screening Program (CO-NBS) screens for cystic fibrosis (CF) by measuring immunoreactive trypsinogen (IRT) from two screens coupled with DNA analysis (IRT/IRT/DNA). The Colorado CF Care Center identified 8 missed CF cases among 358,187 infants screened by the CO-NSP since 2016. Retrospective analysis of CO-NSP IRT data shows that a 96th percentile floating IRT cutoff with a 50 ng/mL fixed cutoff on the first screen, and second screen 50 ng/mL fixed cutoff would have identified 7 of the 8 missed cases. These efforts demonstrate the importance of continuous quality improvement in order to increase sensitivity and reduce missed cases.

Keywords: Cystic fibrosis; False negative; Floating cutoff; Newborn screen; Quality improvement; Sensitivity.

MeSH terms

  • Algorithms*
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • Data Interpretation, Statistical
  • Genetic Testing / methods
  • Genetic Testing / standards*
  • Genetic Testing / statistics & numerical data
  • Humans
  • Infant, Newborn
  • Mutation
  • Neonatal Screening / methods*
  • Neonatal Screening / standards
  • Retrospective Studies
  • Sensitivity and Specificity
  • Trypsinogen / analysis

Substances

  • Trypsinogen