Newborn screening for cystic fibrosis in Serbia: A pilot study
Article first published online: 27 FEB 2013
© 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society
Volume 55, Issue 2, pages 181–184, April 2013
How to Cite
Radivojevic, D., Sovtic, A., Minic, P., Grkovic, S., Guc-Scekic, M., Lalic, T. and Miskovic, M. (2013), Newborn screening for cystic fibrosis in Serbia: A pilot study. Pediatrics International, 55: 181–184. doi: 10.1111/ped.12009
- Issue published online: 16 APR 2013
- Article first published online: 27 FEB 2013
- Accepted manuscript online: 16 NOV 2012 05:36PM EST
- Manuscript Accepted: 30 OCT 2012
- Manuscript Revised: 3 OCT 2012
- Manuscript Received: 7 AUG 2012
- cystic fibrosis;
- DNA testing;
- genetic counseling;
- immunoreactive trypsinogen;
- newborn screening
We performed a pilot study of neonatal screening for cystic fibrosis (CF) in order to introduce it to the national screening program in Serbia.
Immunoreactive trypsinogen (IRT) concentrations were analyzed in dried blood spot samples. Patients were recalled for repeated measurements in case of high IRT levels. Persisting high IRT levels resulted in DNA testing for the 29 most common mutations in the CF transmembrane regulator (CFTR) gene (IRT/IRT/DNA method). Sweat chloride measurements and clinical assessment were further performed for newly diagnosed patients.
Of 1000 samples, three were initially positive and were further analyzed for the presence of the most common CFTR mutations in the Serbian population. DNA analysis revealed two patients being homozygous for F508del mutation. One sample was false positive, as the genetic test proved to be negative and associated with normal sweat chloride concentration and unremarkable clinical presentation.
The results of our pilot study justified the expanding of the routine neonatal screening program in Serbia with CF. Data could be used in future in order to obtain accurate incidence of CF and carrier prevalence in our country.