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

[Epidemiological data. Neonatal and prenatal screening]

J P Farriaux1, J L Dhondt

  • 1Service de Pédiatrie, Hôpital Huriez, CHU, Lille.

Revue De Pneumologie Clinique
|January 1, 1995
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

A novel 22bp deletion in a Tunisian phenylketonuria family.

Pathologie-biologie·2012
Same author

[Guidelines relative to the collection and handling management of biological samples].

Annales de biologie clinique·2011
Same author

[Guidelines concerning sample reception and request recording of laboratory tests].

Annales de biologie clinique·2011
Same author

[Management of pre-analytical nonconformities].

Annales de biologie clinique·2011
Same author

[Guidelines concerning stat laboratory process].

Annales de biologie clinique·2011
Same author

[Self assesment grid for pre-examination phase].

Annales de biologie clinique·2011

Cystic fibrosis, a hereditary disease, is less common than often believed, affecting 1 in 3,200 births. While neonatal screening isn't widespread, antenatal screening for carriers is technically possible.

Area of Science:

  • Genetics and Hereditary Diseases
  • Medical Diagnostics
  • Public Health

Context:

  • Cystic fibrosis (CF) prevalence is often overestimated; it affects approximately 1 in 3,200 individuals, varying geographically.
  • Heterozygous carrier frequency for CF is around 1 in 28.
  • No country currently implements widespread neonatal screening for CF due to technical challenges and unproven benefits of early intervention.

Purpose:

  • To evaluate the current understanding of cystic fibrosis (CF) epidemiology and screening strategies.
  • To explore the feasibility and potential of antenatal screening for CF carriers.
  • To address the need for developing effective screening protocols.

Summary:

  • Cystic fibrosis (CF) is not the most common hereditary disease, with a prevalence of about 1/3,200 births.

Related Experiment Videos

  • The frequency of heterozygous carriers is approximately 1/28.
  • While neonatal screening is not standard, antenatal screening for heterozygous carriers is technically feasible but requires further research into optimal protocols.

    • Impact:

    • Highlights the need for accurate public health messaging regarding CF prevalence.
    • Suggests a potential shift towards antenatal screening for cystic fibrosis carriers.
    • Emphasizes the importance of developing and testing new screening protocols for hereditary diseases.