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 Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

595
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,...
595
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

331
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...
331

You might also read

Related Articles

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

Sort by
Same author

Parents' Experiences of Receiving a Severe Combined Immunodeficiency (SCID) or Non-SCID T-Cell Lymphopenia Outcome During the Newborn Screening Evaluation in England.

International journal of neonatal screening·2026
Same author

Parental Views on the Psychosocial Impact of False-Positive Results Following Newborn Screening for Severe Combined Immunodeficiency in England.

International journal of neonatal screening·2026
Same author

Exploring How Children and Young People With Sickle Cell Disease and Their Families Want to be Involved in Research: A Qualitative Study.

Health expectations : an international journal of public participation in health care and health policy·2025
Same author

Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study.

Journal of participatory medicine·2025
Same author

Burkholderia cenocepacia ST-250 in cystic fibrosis patients in Switzerland: Genomic investigation of transmission routes.

Diagnostic microbiology and infectious disease·2024
Same author

Psychosocial Impact of False-Positive Newborn Screening Results: A Scoping Review.

Children (Basel, Switzerland)·2024
Same journal

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

International journal of neonatal screening·2026
Same journal

Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025.

International journal of neonatal screening·2026
Same journal

Implementation of a Prospective Birth Cohort for Newborn Screening and Early Linkage to Comprehensive Sickle Cell Disease Care in a Low-Resource Setting.

International journal of neonatal screening·2026
Same journal

Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization.

International journal of neonatal screening·2026
Same journal

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes.

International journal of neonatal screening·2026
Same journal

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

International journal of neonatal screening·2026
See all related articles

Related Experiment Video

Updated: Dec 5, 2025

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

355

Processing Newborn Bloodspot Screening Results for CF.

Jürg Barben1, Jane Chudleigh2

  • 1Division of Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland.

International Journal of Neonatal Screening
|October 19, 2020
PubMed
Summary
This summary is machine-generated.

The clinical processing of positive newborn screening results for cystic fibrosis (CF) is crucial. A clear diagnostic algorithm ensures timely information and follow-up for affected families.

Keywords:
cystic fibrosisnewborn screeningparental informationpresumptive diagnosissweat test

More Related Videos

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

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

Published on: April 11, 2018

11.0K
Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD
09:47

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD

Published on: September 13, 2018

17.0K

Related Experiment Videos

Last Updated: Dec 5, 2025

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

355
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

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

Published on: April 11, 2018

11.0K
Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD
09:47

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD

Published on: September 13, 2018

17.0K

Area of Science:

  • Medical Genetics
  • Public Health
  • Pediatrics

Background:

  • Newborn bloodspot screening (NBS) for cystic fibrosis (CF) involves laboratory and clinical components.
  • The clinical processing of positive NBS results is often underestimated but critical for patient outcomes.
  • Effective NBS programs require well-defined diagnostic algorithms within CF centers.

Purpose of the Study:

  • To emphasize the importance of the clinical component in CF NBS programs.
  • To highlight the need for clear diagnostic algorithms in CF centers for positive screening results.
  • To underscore the significance of timely and effective communication with families following a positive NBS result.

Main Methods:

  • Review of the components involved in processing positive CF NBS results.
  • Analysis of the impact of diagnostic procedures on affected children and parents.
  • Examination of communication strategies for delivering NBS results and subsequent diagnostic information.

Main Results:

  • The clinical part of CF NBS, including result processing, significantly impacts families.
  • A clear diagnostic algorithm in CF centers is essential for NBS program performance.
  • Timely diagnosis and information delivery are paramount for parents and CF teams.

Conclusions:

  • The communication of a positive NBS result is a critical process, not a single event.
  • Efficient and effective information dissemination ensures consistent and timely follow-up care.
  • Optimizing the clinical pathway of CF NBS is vital for improving patient and family experiences.