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

A future for neonatal alpha1-antitrypsin screening?

T Sveger1, T Thelin

  • 1Department of Paediatrics and Psychiatry, University of Lund, University Hospital, Malmö, Sweden.

Acta Paediatrica (Oslo, Norway : 1992)
|July 29, 2000
PubMed
Summary

Neonatal screening for alpha1-antitrypsin deficiency (alpha1ATD) is recommended by the WHO. Early detection aids in managing liver disease and preventing emphysema, though debates continue on optimal screening timing and potential disadvantages.

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

Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis.

Annals of human genetics·2008
Same author

Plasma neutrophil lipocalin, elastase-alpha1-antitrypsin complex and neutrophil protease 4 in preterm infants with respiratory distress syndrome.

Scandinavian journal of clinical and laboratory investigation·2003
Same author

Tracheobronchial aspirate fluid neutrophil lipocalin, elastase- and neutrophil protease-4-alpha1-antitrypsin complexes, protease inhibitors and free proteolytic activity in respiratory distress syndrome.

Acta paediatrica (Oslo, Norway : 1992)·2002
Same author

A longitudinal cohort study on the prevalence of Helicobacter pylori antibodies in Swedish children and adolescents.

Acta paediatrica (Oslo, Norway : 1992)·2002
Same author

Respiratory symptoms and lung function in young adults with severe alpha(1)-antitrypsin deficiency (PiZZ).

Thorax·2002
Same author

Expression of an LDL receptor allele with two different mutations (E256K and I402T).

Molecular pathology : MP·2000

Area of Science:

  • Medical genetics
  • Public health screening
  • Pulmonology

Background:

  • Alpha1-antitrypsin deficiency (alpha1ATD) is a genetic disorder with varying prevalence, posing risks for liver disease in infancy and emphysema in adulthood.
  • Smoking significantly exacerbates alpha1ATD, reducing life expectancy and prolonging the asymptomatic phase.

Purpose of the Study:

  • To evaluate the benefits and drawbacks of neonatal screening for alpha1-antitrypsin deficiency (alpha1ATD).
  • To discuss the optimal timing for alpha1ATD screening, considering early diagnosis versus adolescent-onset risks like smoking.

Main Methods:

  • Review of existing alpha1ATD screening programs, including the Swedish experience.
  • Analysis of potential advantages and disadvantages of neonatal versus school-age screening for alpha1ATD.

Related Experiment Videos

  • Consideration of psychosocial impacts and ethical concerns related to alpha1ATD screening.

    • Main Results:

    • Neonatal screening allows for early diagnosis and treatment of liver disease and informed genetic counseling regarding smoking risks.
    • School-age screening (11-12 years) aligns with the age when smoking initiation may occur, allowing for child participation in screening decisions.
    • Potential disadvantages include psychosocial reactions in mothers and discrimination risks, with uncertainties regarding screening participation and anti-smoking advice efficacy.

    Conclusions:

    • The optimal timing for alpha1-antitrypsin deficiency screening remains a subject of ongoing debate, balancing early intervention benefits against potential psychosocial and discrimination risks.
    • Evidence from the Swedish program suggests that early information and advice can deter smoking in adolescents with alpha1ATD.
    • Further research is needed to address uncertainties regarding voluntary screening participation, psychosocial outcomes, and the effectiveness of anti-smoking interventions at different ages.