ISSN:
1432-1076
Keywords:
Key words Cystic fibrosis
;
Screening
;
Infant
;
Trypsin
;
Mutation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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 analy- sis covering 6 months of the study period, individuals who were con- sidered to be at risk after IRT estimation (n = 22) were analysed for DF508 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 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 sensitiv- ity analysis of this population.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310050192
Permalink
