Article
Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.
BMJ (Clinical research ed.) - 4 Jun 1994
Ranieri E, Lewis B D, Gerace R L, Ryall R G, Morris C P, Nelson P V, Carey W F, Robertson E F
Abstract excerpt
OBJECTIVE: To assess the performance and impact of a two tier neonatal screening programme for cystic fibrosis based on an initial estimation of immunoreactive trypsinogen followed by direct gene analysis. DESIGN: Four year prospective study of two tier screening strategy. First tier: immunoreact...
Topics
- Cystic Fibrosis
- DNA Mutational Analysis
- Genes
- Genetic Counseling
- Genetic Techniques
- Genetic Testing
- Humans
- Incidence
- Infant, Newborn
- Mutation
- Neonatal Screening
- Predictive Value of Tests
- Prospective Studies
- South Australia
- Trypsinogen