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  • Genetic Counseling and Prenatal Diagnosis

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    Pande Indra Premana
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    This document discusses genetic counseling and prenatal diagnosis. Genetic counseling is defined as a process that provides information and education to address concerns relating to hereditary disorders. It involves assessing risk, discussing options like prenatal diagnosis, and providing long-term support. Prenatal diagnosis can be invasive, through procedures like amniocentesis and CVS, or non-invasive using techniques like ultrasound and analyzing cell-free DNA from maternal blood. Invasive procedures carry risks of fetal loss around 1-3%. Laboratory analysis of samples identifies chromosomal abnormalities, DNA mutations, and biochemical markers.

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    This document discusses genetic counseling and prenatal diagnosis. Genetic counseling is defined as a process that provides information and education to address concerns relating to hereditary disorders. It involves assessing risk, discussing options like prenatal diagnosis, and providing long-term support. Prenatal diagnosis can be invasive, through procedures like amniocentesis and CVS, or non-invasive using techniques like ultrasound and analyzing cell-free DNA from maternal blood. Invasive procedures carry risks of fetal loss around 1-3%. Laboratory analysis of samples identifies chromosomal abnormalities, DNA mutations, and biochemical markers.

    Copyright:

    © All Rights Reserved
    Scarica in formato PPTX, PDF, TXT o leggi online su Scribd
    Segnala contenuti inappropriati
    54 visualizzazioni13 pagine

    Genetic Counseling and Prenatal Diagnosis

    Caricato da

    Pande Indra Premana
    This document discusses genetic counseling and prenatal diagnosis. Genetic counseling is defined as a process that provides information and education to address concerns relating to hereditary disorders. It involves assessing risk, discussing options like prenatal diagnosis, and providing long-term support. Prenatal diagnosis can be invasive, through procedures like amniocentesis and CVS, or non-invasive using techniques like ultrasound and analyzing cell-free DNA from maternal blood. Invasive procedures carry risks of fetal loss around 1-3%. Laboratory analysis of samples identifies chromosomal abnormalities, DNA mutations, and biochemical markers.

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    © All Rights Reserved
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    di 13

    Genetic Counseling & Prenatal

    Diagnosis
    Dr. I G K Nyoman Arijana, Msi.Med
    Histology Department

    Genetic Counseling 1
    A process to give information & education which
    addresses concerns relating to the development and/or
    transmission of a hereditary disorder
    diagnosis

    Anamnesis
    (pedigree,
    past history
    family
    history)
    Physical &
    supporting
    examination
    including
    DNA testing
    Available
    treatment
    Long term
    prognosis

    risk
    assessme
    nt
    Support
    group

    options

    communi
    cation

    Prenatal
    diagnosis,
    PGD,
    contraceptio
    n/
    sterilization,
    adoption,
    artificial
    insemination
    by donor

    2-way
    communicati
    on

    long-term
    contact
    and
    support
    Support
    group

    Genetic Counseling 2
    Overview of Genetic Disorders
    Chromo
    somal

    Mendelian Multifactorial&
    Polygenic

    Number
    AD
    Trisomy
    AR
    21
    Structur X-linked
    Y-linked
    al
    Robertso
    nian
    transloca
    tion

    DM I
    Cleft lip/palate
    Neural tube defects

    Outline : Prenatal Diagnosis


    Invasive Prenatal Diagnosis (IPD)
    Diagnosis (NIPD)

    CVS (9-12 weeks)


    Amniocentesis (16-17
    weeks)
    Cordocentesis
    (19-21
    weeks)
    Fetoscopy
    PGD (8 cellsblastomere)

    Non-Invasive Prenatal

    Maternal serum
    screening
    Ultrasound (USG)
    Isolation of fetal cells
    from maternal
    circulation
    Isolation of cell-free
    DNA (cffDNA) from
    maternal circulation

    Laboratory analysis:
    Chromosomal level : karyotyping
    DNA level : PCR
    Biochemistry level: maternal serum
    screening

    Outline : Complication of Prenatal


    Diagnosis
    Fetal Loss
    Amniocentesis: 1/200
    CVS: 1%
    Cordocentesis: 2-3%
    Fetoscopy : 5%

    IPD (Invasive Prenatal Diagnostic)

    1. CVS-Chorionic
    YouTube)

    Vilus

    Sampling

    (Courtesy

    of

    IPD (Invasive Prenatal Diagnostic)

    2. Amniocentesis (Courtesy of YouTube)

    IPD (Invasive Prenatal Diagnostic)

    3. Cordocentesis /PUBS Percutaneus Umbilical Blood


    Sampling (Courtesy of YouTube)

    NIPD (Non-Invasive Prenatal Diagnostic)

    1. Ultrasound, 2D vs 4D (Courtesy of YouTube)

    Special Technique in IPD

    IVF (Courtesy of YouTube)

    Special Technique

    PGD (Courtesy of YouTube)

    Summary
    Genetic counseling
    Communication and education
    End result : non-directive
    Genetic disorder
    Prenatal diagnosis
    Invasive & non invasive
    complication
    Lab analysis

    Thank You for Your


    Attention

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