Cystic fibrosis screening in neonates — measurement of immunoreactive trypsin and direct genotype analysis for ΔF508 mutation
| Autor: | M. Götz, K. Dobianer, J. Spona, E. B. Faragher, S. Campbell, J. Larsen, S. Waldherr, I. Eichler |
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| Rok vydání: | 1994 |
| Předmět: |
medicine.medical_specialty
Pathology Pancreatic disease Cystic Fibrosis Genotype DNA Mutational Analysis Population Sensitivity and Specificity Cystic fibrosis Gastroenterology SWEAT Neonatal Screening Internal medicine Humans Medicine Trypsin Genetic Testing Prospective Studies Sweat ΔF508 education Sweat test Whole blood education.field_of_study medicine.diagnostic_test business.industry Infant Newborn Heterozygote advantage medicine.disease Pediatrics Perinatology and Child Health business |
| Zdroj: | European Journal of Pediatrics. 153:569-573 |
| ISSN: | 1432-1076 0340-6199 |
| Popis: | 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 analysis covering 6 months of the study period, individuals who were considered to be at risk after IRT estimation (n = 22) were analysed for delta F508 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 750 ng 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 delta F508 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 delta F508 status and sweat chloride testing could lead to a high sensitivity analysis of this population. |
| Databáze: | OpenAIRE |
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