Article
Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation.
European journal of pediatrics - 1 Aug 1994
Larsen J, Campbell S, Faragher E B, Götz M, Eichler I, Waldherr S, Dobianer K, Spona J
Abstract excerpt
This study investigated the clinical usefulness of screening for cystic fibrosis (CF) in 19,992 newborns, over 39 months, in an Austrian population. Immunoreactive serum trypsin (IRT) determination was followed by sweat chloride analysis (sweat test) to establish diagnosis. In a retrospective ana...
Topics
- Cystic Fibrosis
- DNA Mutational Analysis
- Genetic Testing
- Genotype
- Humans
- Infant, Newborn
- Neonatal Screening
- Prospective Studies
- Sensitivity and Specificity
- Sweat
- Trypsin
