Related Experiment Video

Updated: May 16, 2026

Galleria mellonella as an Antimicrobial Screening Model
06:19

Galleria mellonella as an Antimicrobial Screening Model

Published on: October 11, 2024

Newborn screening for cystic fibrosis in Serbia: a pilot study

Danijela Radivojevic1, Aleksandar Sovtic, Predrag Minic

  • 1Laboratory of Medical Genetics, Mother and Child Health Institute of Serbia, Belgrade, Serbia. badane@beotel.rs

Pediatrics International : Official Journal of the Japan Pediatric Society
|November 21, 2012
PubMed

Insights

A pilot study successfully screened 1000 newborns for cystic fibrosis (CF) in Serbia. The results support integrating CF neonatal screening into the national program, identifying two infants with CF.

Area of Science:

  • Neonatal screening
  • Genetics
  • Public health

Background:

  • Pilot study conducted in Serbia to evaluate neonatal screening for cystic fibrosis (CF).
  • Aims to integrate CF screening into the national healthcare program.
  • Focuses on early detection of CF in newborns.

Purpose of the Study:

  • To assess the feasibility and effectiveness of a neonatal screening program for cystic fibrosis in Serbia.
  • To identify potential cases of CF in newborns using a multi-tiered approach.
  • To gather data for the potential expansion of routine CF screening.

Main Methods:

  • Analysis of immunoreactive trypsinogen (IRT) in dried blood spots.
  • Recall for repeat measurements in cases of elevated IRT.
  • DNA testing for common CF transmembrane regulator (CFTR) gene mutations (IRT/IRT/DNA method).
  • Sweat chloride measurements and clinical assessments for confirmed diagnoses.

Main Results:

  • Screened 1000 neonatal blood samples.
  • Identified three initially positive samples.
  • DNA analysis confirmed two infants homozygous for the F508del CFTR mutation.
  • One sample was a false positive, with negative genetic tests and normal clinical findings.

Conclusions:

  • The pilot study's findings support the expansion of routine neonatal screening for cystic fibrosis in Serbia.
  • The data collected can inform future incidence and carrier prevalence studies.
  • Successful implementation of IRT/IRT/DNA method for CF screening.
Abstract

More Related Videos

Development of a Polymicrobial Colony Biofilm Model to Test Antimicrobials in Cystic Fibrosis07:16

Development of a Polymicrobial Colony Biofilm Model to Test Antimicrobials in Cystic Fibrosis

Published on: September 20, 2024

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

Related Concept Videos

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...