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

Fabry's disease: antenatal detection.

R O Brady, B W Uhlendorf, C B Jacobson

    Science (New York, N.Y.)
    |April 9, 1971
    PubMed
    Summary
    This summary is machine-generated.

    Prenatal diagnosis of Fabry

    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

    Dynamic intervention-based biomarkers may reduce heterogeneity and motivate targeted interventions in clinical high risk for psychosis.

    Schizophrenia research·2022
    Same author

    Butyrylcholinesterase: an enzyme antidote for cocaine intoxication.

    Addiction biology·2016
    Same author

    A longitudinal pilot proton MRS investigation of the manic and euthymic states of bipolar disorder.

    Translational psychiatry·2012
    Same author

    Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.

    Neurobiology of disease·2008
    Same author

    Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.

    Brain : a journal of neurology·2006
    Same author

    Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.

    Neurology·2006
    Same journal

    Erratum for the Research Article "Detecting supramolecular organic nanoparticles during heat wave".

    Science (New York, N.Y.)·2026
    Same journal

    Local signals, systemic decline.

    Science (New York, N.Y.)·2026
    Same journal

    The mechanics of liver regeneration.

    Science (New York, N.Y.)·2026
    Same journal

    Computing in a memory with physics.

    Science (New York, N.Y.)·2026
    Same journal

    Retraction.

    Science (New York, N.Y.)·2026
    Same journal

    Making time.

    Science (New York, N.Y.)·2026
    See all related articles

    Area of Science:

    • Medical Genetics
    • Prenatal Diagnosis
    • Metabolic Disorders

    Background:

    • Fabry's disease is an X-linked metabolic disorder.
    • Accurate prenatal diagnosis is crucial for genetic counseling and management.
    • Early detection allows for timely intervention and family planning.

    Purpose of the Study:

    • To describe a procedure for intrauterine detection of Fabry's disease in a male fetus.
    • To validate the diagnostic accuracy using biochemical analyses.
    • To emphasize the implications for genetic counseling and pregnancy monitoring.

    Main Methods:

    • Intrauterine detection at 17 weeks of gestation.
    • Enzyme and lipid analyses of fetal tissue specimens.
    • Carrier identification and monitoring of pregnancies.

    Related Experiment Videos

    Main Results:

    • Successful intrauterine detection of a male fetus with Fabry's disease.
    • Confirmation of diagnosis through comprehensive enzyme and lipid analyses.
    • Established the feasibility of prenatal diagnosis for this condition.

    Conclusions:

    • Prenatal diagnosis of Fabry's disease is achievable.
    • This advancement aids in precise genetic counseling for affected families.
    • Enables effective monitoring of pregnancies at risk for X-linked metabolic disorders.