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

Screening for cystic fibrosis.

H C Ryley1, M C Goodchild, J A Dodge

  • 1Department of Medical Microbiology, University of Wales College of Medicine, Cardiff.

British Medical Bulletin
|October 1, 1992
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

Self-management of the health care regimen: a comparison of nurses' and cardiac patients' perceptions.

Patient education and counseling·2011
Same author

With commentary.

Archives of disease in childhood·2010
Same author

The selective oestrogen receptor modulator, LY362321, is not neuroprotective in a rat model of transient focal ischaemia.

Journal of neuroendocrinology·2008
Same author

Cystic fibrosis mortality and survival in the UK: 1947-2003.

The European respiratory journal·2006
Same author

Shwachman-Diamond syndrome: UK perspective.

Archives of disease in childhood·2006
Same author

Cystic fibrosis is no longer an important cause of childhood death in the UK.

Archives of disease in childhood·2005

Neonatal screening for cystic fibrosis (CF) using immunoreactive trypsin and genetic analysis improves early detection. Long-term benefits require further study, with potential for reduced abortion rates if effective CF treatments emerge.

Area of Science:

  • Medical Genetics
  • Neonatal Medicine
  • Public Health

Background:

  • Neonatal screening for cystic fibrosis (CF) is established, primarily using immunoreactive trypsin assays on dried blood spots.
  • While reducing short-term illness, the long-term impact of neonatal CF screening remains insufficiently demonstrated.
  • Current screening methods can be enhanced with genetic analysis for improved specificity.

Purpose of the Study:

  • To evaluate the current state and future implications of neonatal screening for cystic fibrosis.
  • To discuss the role of genetic testing in improving screening accuracy and managing high-risk pregnancies.
  • To explore societal and ethical considerations surrounding population-wide genetic screening for CF.

Main Methods:

  • Review of current diagnostic methods for neonatal cystic fibrosis screening, including immunoreactive trypsin and genetic analysis.

Related Experiment Videos

  • Discussion of molecular screening approaches for high-risk pregnancies and potential for termination.
  • Analysis of ethical and societal implications of community-based genetic carrier detection.

    • Main Results:

    • Neonatal screening for CF effectively reduces immediate morbidity.
    • Combining trypsin assays with genetic analysis enhances screening specificity.
    • Molecular screening allows for prenatal diagnosis and pregnancy termination decisions.
    • Widespread genetic carrier screening raises significant societal and ethical questions.

    Conclusions:

    • Neonatal CF screening offers short-term benefits, but long-term outcomes need further investigation.
    • Advancements in CF treatment could increase the demand for neonatal screening and potentially decrease the need for pregnancy termination.
    • Ethical frameworks are crucial for addressing population-level genetic testing and carrier identification.