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Cystic fibrosis screening in neonates — measurement of immunoreactive trypsin and direct genotype analysis for ΔF508 mutation

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Abstract

This study investigated the clinical usefulness of screening for cystic fibrosis (CF) in 19992 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 analysis covering 6 months of the study period, individuals who were considered to be at risk after IRT estimation (n = 22) were analysed for ΔF508 mutation, using a new method of DNA extraction from the initial dried blood specimens. A total of 119 infants (0.6%) had values greater than 750mg trypsin/ml whole blood. In 88 babies sweat tests were performed, leading to the diagnosis of CF in 11 cases. One patient was not initially identified by screening but was later discovered due to his clinical status. Three infants were noted to carry the ΔF508 mutation (1 homozygous, 2 heterozygous). Two of these babies already had CF. The second heterozygote was a carrier. A highly efficient three tier screening strategy is presented in which IRT estimation, determination of ΔF508 status and sweat chloride testing could lead to a high sensitivity analysis of this population.

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Abbreviations

CF :

cystic fibrosis

IRT :

immunoreactive trypsin

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Author notes

  1. J. Spona

    Present address: Department of Cellular Endocrinology, Ludwig Boltzmann Institute for Experimental Endocrinology, Spitalgasse 23, A-1090, Vienna, Austria

Authors and Affiliations

  1. Department of Cellular Endocrinology, Ludwig Boltzmann Institute for Experimental Endocrinology, Spitalgasse 23, A-1090, Vienna, Austria

    J. Larsen, S. Waldherr & K. Dobianer

  2. Department of Surgery, University Hospital of South Manchester, M20 8LR, Manchester, UK

    J. Larsen

  3. Department of Obstetrics and Gynaecology, University Hospital of South Manchester, M20 8LR, Manchester, UK

    S. Campbell

  4. Medical Statistics, University Hospital of South Manchester, M20 8LR, Manchester, UK

    E. B. Faragher

  5. Department of Paediatrics, University of Vienna, Austria

    M. Götz & I. Eichler

  6. First Department of Gynaecology, University of Vienna, Austria

    J. Spona

Authors
  1. J. Larsen
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  2. S. Campbell
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  3. E. B. Faragher
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  4. M. Götz
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  5. I. Eichler
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  6. S. Waldherr
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  7. K. Dobianer
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  8. J. Spona
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Larsen, J., Campbell, S., Faragher, E.B. et al. Cystic fibrosis screening in neonates — measurement of immunoreactive trypsin and direct genotype analysis for ΔF508 mutation. Eur J Pediatr 153, 569–573 (1994). https://doi.org/10.1007/BF02190660

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  • DOI: https://doi.org/10.1007/BF02190660

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