Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Newborn screening programmes for cystic fibrosis.

Kevin W Southern1, James M Littlewood

  • 1Institute of Child Health, University of Liverpool, Royal Liverpool Children's Hospital, Alder Hey, Liverpool L12 2AP, UK. kwsouth@liv.ac.uk

Paediatric Respiratory Reviews
|November 25, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Performance Evaluation of a Novel Cystic Fibrosis Caregiver Burden Measure Demonstrates Significant Challenges for Parents of Children With CF During the Early Years: The Irish Comparative Outcomes Study (ICOS).

Pediatric pulmonology·2026
Same author

CFTR modulator monotherapy for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).

The Cochrane database of systematic reviews·2026
Same author

Supporting Physiotherapy and Exercise for People With Cystic Fibrosis in Low-Resource Settings.

Pediatric pulmonology·2026
Same author

Qualitative study exploring the views and perceptions of parents/carers of young children with CF regarding the introduction of CFTR modulator therapy (The REVEAL study; PaRents pErspectiVEs of KAftrio in chiLdren aged 2-5).

BMJ open respiratory research·2025
Same author

What does the expanding CFTR modulator programme mean for people with cystic fibrosis?

The Lancet. Respiratory medicine·2025
Same author

Regulatory adverse drug reaction analyses support a temporal increase in psychiatric reactions after initiation of cystic fibrosis combination modulator therapies.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024

Newborn cystic fibrosis screening (NCFS) programs vary globally, often using immunoreactive trypsinogen (IRT) and DNA analysis. Successful NCFS implementation requires clear pathways and parental education for optimal outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Cystic fibrosis (CF) is a genetic disorder requiring early diagnosis for effective management.
  • Newborn screening programs aim to identify affected infants before symptom onset.

Purpose of the Study:

  • To review the global landscape of newborn cystic fibrosis screening (NCFS) programs.
  • To identify common methodologies and challenges in establishing NCFS.

Main Methods:

  • Review of existing NCFS program algorithms worldwide.
  • Analysis of screening protocols involving immunoreactive trypsinogen (IRT) and DNA testing.

Main Results:

  • Global NCFS programs exhibit diversity in their screening algorithms.

Related Experiment Videos

  • Most programs utilize an initial IRT measurement, followed by a second IRT or DNA analysis.
  • DNA analysis enhances sensitivity and identifies carriers, while some programs combine IRT and DNA testing.

    • Conclusions:

    • Successful NCFS implementation depends on a well-defined screening algorithm.
    • Clear communication pathways and comprehensive parental information are crucial for effective NCFS programs.