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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

360
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,...
360
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

223
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...
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Related Experiment Video

Updated: Sep 10, 2025

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

Ambika Shenoy1, Nilesh Seshadri2, Haley Haskett2

  • 1Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Division of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, 3501 Civic Center Boulevard, Philadelphia, PA 19104, USA.

Clinics in Perinatology
|August 24, 2025
PubMed
Summary
This summary is machine-generated.

Cystic fibrosis newborn screening (CF NBS) enables earlier diagnosis and improved outcomes. Achieving timely, equitable CF diagnosis for all infants remains the primary goal, despite implementation challenges.

Keywords:
Cystic fibrosisFetal therapyGeneticsNewborn screening

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Area of Science:

  • Medical Genetics
  • Pediatrics
  • Public Health

Background:

  • Newborn screening (NBS) for cystic fibrosis (CF) is crucial for early diagnosis and improved clinical outcomes.
  • The primary objective of CF NBS is to ensure timely and equitable diagnosis for all affected infants.
  • Existing CF NBS protocols and algorithms are essential for identifying infants with CF.

Purpose of the Study:

  • To outline the processes and algorithms involved in cystic fibrosis newborn screening.
  • To review the testing and clinical outcomes associated with CF NBS.
  • To identify future needs and challenges in the optimal implementation of CF NBS.

Main Methods:

  • Review of current cystic fibrosis newborn screening protocols and algorithms.
  • Analysis of testing methodologies and clinical outcomes in infants screened for CF.
  • Identification of challenges and future directions for CF NBS implementation.

Main Results:

  • CF NBS leads to earlier diagnosis and better clinical outcomes for affected infants.
  • Significant variation exists in state-level CF NBS protocols, impacting implementation.
  • Challenges include managing inconclusive test results and ensuring timely evaluation and treatment.

Conclusions:

  • Optimizing CF NBS requires addressing variations in state protocols and improving diagnostic pathways.
  • Enhanced education for primary providers and families is essential for effective CF NBS.
  • Strong partnerships between CF centers and state programs are vital for successful CF NBS implementation.