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

Antenatal diagnosis of genodermatoses.

N B Esterly, S Elias

    Journal of the American Academy of Dermatology
    |May 1, 1983
    PubMed
    Summary

    Fetoscopy and fetal skin biopsy enable prenatal diagnosis of genetic skin disorders. These techniques allow direct visualization and tissue analysis for conditions like epidermolysis bullosa, improving early detection.

    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

    Causal Inference in Oncology: Why, What, How and When.

    Clinical oncology (Royal College of Radiologists (Great Britain))·2024
    Same author

    Circulating tumor DNA guided adjuvant chemotherapy in stage II colon cancer (MEDOCC-CrEATE): study protocol for a trial within a cohort study.

    BMC cancer·2020
    Same author

    Enteroviral infection in patients treated with rituximab for non-Hodgkin lymphoma: a case series and review of the literature.

    Hematological oncology·2016
    Same author

    The Medical Bookshelf.

    Postgraduate medicine·2016
    Same author

    Three-month results of the effect of Ultrapro or Prolene mesh on post-operative pain and well-being following endoscopic totally extraperitoneal hernia repair (TULP trial).

    Surgical endoscopy·2015
    Same author

    Massive subcutaneous emphysema in a long-term ventilated patient.

    QJM : monthly journal of the Association of Physicians·2014

    Area of Science:

    • Medical Genetics
    • Dermatology
    • Prenatal Diagnosis

    Background:

    • Hereditary skin disorders (genodermatoses) pose diagnostic challenges.
    • Antenatal diagnosis is crucial for managing severe genetic skin conditions.
    • Existing diagnostic methods have limitations for in-utero assessment.

    Purpose of the Study:

    • To evaluate the utility of fetoscopy and fetal skin biopsy for prenatal diagnosis of genodermatoses.
    • To assess the feasibility of obtaining fetal skin samples for various analyses.
    • To explore the potential of these techniques for a wider range of fetal skin disorders.

    Main Methods:

    • Direct visualization of the fetus and placenta via fetoscopy.
    • Obtaining fetal skin biopsy specimens.
    • Performing light and electron microscopy, tissue culture, and biochemical analysis on biopsy samples.

    Main Results:

    • Successful prenatal diagnosis or exclusion of epidermolysis bullosa, epidermolytic hyperkeratosis, and harlequin ichthyosis.
    • Demonstrated feasibility of obtaining viable tissue for diagnostic studies.
    • Established the potential for diagnosing other genodermatoses.

    Conclusions:

    • Fetoscopy and fetal skin biopsy are effective tools for antenatal diagnosis of specific genodermatoses.
    • These techniques offer significant potential for expanding prenatal diagnostic capabilities for fetal skin disorders.
    • Further research will enhance understanding of fetal skin development and refine diagnostic procedures.

    Related Experiment Videos