Article
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.
Human genetics - 1 Nov 1995
Férec C, Verlingue C, Parent P, Morin J F, Codet J P, Rault G, Dagorne M, Lemoigne A, Journel H, Roussey M
Abstract excerpt
We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates bor...
Topics
- Base Sequence
- Cystic Fibrosis
- DNA Mutational Analysis
- France
- Genetic Counseling
- Humans
- Incidence
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Neonatal Screening
- Pilot Projects
- Trypsinogen