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- Title
Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.
- Authors
Comeau, Anne Marie; Parad, Richard B; Dorkin, Henry L; Dovey, Mark; Gerstle, Robert; Haver, Kenan; Lapey, Allen; O'Sullivan, Brian P; Waltz, David A; Zwerdling, Robert G; Eaton, Roger B
- Abstract
Newborn screening for cystic fibrosis (CF) provides a model to investigate the implications of applying multiple-mutation DNA testing in screening for any disorder in a pediatric population-based setting, where detection of affected infants is desired and identification of unaffected carriers is not. Widely applied 2-tiered CF newborn screening strategies first test for elevated immunoreactive trypsinogen (IRT) with subsequent analysis for a single CFTR mutation (DeltaF508), systematically missing CF-affected infants with any of the >1000 less common or population-specific mutations. Comparison of CF newborn screening algorithms that incorporate single- and multiple-mutation testing may offer insights into strategies that maximize the public health value of screening for CF and other genetic disorders. The objective of this study was to evaluate technical feasibility and practical implications of 2-tiered CF newborn screening that uses testing for multiple mutations (multiple-CFTR-mutation testing).
- Publication
Pediatrics, 2004, Vol 113, Issue 6, p1573
- ISSN
1098-4275
- Publication type
Journal Article
- DOI
10.1542/peds.113.6.1573