Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

Hum Genet. 1995 Nov;96(5):542-8. doi: 10.1007/BF00197409.


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 born in the western part of Britanny. The first tier, involving IRT screening at 3 days of age, utilizes a low elevation of the trypsinogen level (600 ng/ml), which is highly sensitive. The second tier, which corresponds to the exhaustive screening for mutations in three exons of the gene, is highly specific for this population (Britanny). The false positive rate is very low, and no false negatives have been reported to date. This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / blood
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • DNA Mutational Analysis
  • France
  • Genetic Counseling
  • Humans
  • Incidence
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation
  • Neonatal Screening*
  • Pilot Projects
  • Trypsinogen / blood*


  • Trypsinogen