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

Authors :: Martiniano SL
Croak K
Bonn G
Sontag MK
Sagel SD
Source :: Molecular genetics and metabolism [Mol Genet Metab] 2021 Sep-Oct; Vol. 134 (1-2), pp. 65-67. Date of Electronic Publication: 2021 Aug 15.
Publication Year :: 2021
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.<br /> (Copyright © 2021 Elsevier Inc. All rights reserved.)

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

Full Text Access

Tools