A New Cystic Fibrosis Newborn Screening Algorithm: IRT/IRT1↑/DNA
Received 29 August 2008; received in revised form 30 January 2009; accepted 26 March 2009. published online 22 June 2009.
Refers to article:
Cystic Fibrosis: Refining the Approach to Newborn Screening
Bridget Wilcken
The Journal of Pediatrics
November 2009 (Vol. 155, Issue 5, Pages 605-606) Full Text |
Full-Text PDF (77 KB)
Objective
To evaluate an immunoreactive trypsinogen (IRT) IRT/IRT1↑/DNA algorithm, aimed at improving sensitivity while decreasing cystic fibrosis (CF) carrier identification.
Study design
New technologies allow the measurement of the second IRT level solely in infants with an elevated first IRT level. Specimens with an elevated second IRT level undergo mutation analysis. We tested the projected efficacy with retrospective data from Colorado.
Results
All known infants with CF would have been identified with our proposed IRT cutoff points, and 3 would have been missed with our mutation panel. Two of 3 missed cases would have been identified by using a failsafe method (IRT >99.9th percentile), yielding a sensitivity rate of 99.7% (95% CI, 98.4-99.9). Estimated reduction in carrier detection was 80% compared with IRT/DNA.
Conclusion
IRT/IRT1↑/DNA appears to improve cystic fibrosis newborn screen sensitivity while decreasing carrier identification, providing an alternative to IRT/IRT in states that obtain 2 blood spots.
aDepartment of Epidemiology, Colorado School of Public Health, University of Colorado Denver, Aurora, CO
bLaboratory Services Division, Colorado Department of Public Health and Environment, Denver, CO
cDepartment of Pediatrics, University of Colorado Denver School of Medicine and The Children's Hospital, Aurora, CO
Reprint requests: Marci K. Sontag, PhD, The Children's Hospital, 13123 E 16th Ave, B395, Aurora, Colorado, 80045.
Supported by the Cystic Fibrosis Foundation SONTAG07AO, NIDDK RO1 DK61886, NHLBI U01 HL081335. The authors declare no real or perceived conflicts of interest.
ABSTRACT