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Evaluation Recording (PM) Recording

Postgraduate Courses

Prenatal Genetic Screening and Diagnosis: New Opportunities and Challenges

Sunday, February 11, 2024
8:00 AM – 3:00 PM  
Location: Maryland Ballroom C, Ballroom Level
CE: 5.5

Additional registration fee required CME Credit Offered
CE Credits: 5.5
CME Credits: 5.5
Ultrasound Credits: 0

    Course Chair(s)

  • Stephanie Dukhovny, MD (she/her/hers)

    Associate Professor
    Oregon Health & Science University
    Portland, Oregon, United States

    Disclosure(s): I have no relevant financial relationships to report.

  • Angie Jelin, MD (she/her/hers)

    Associate Professor
    The Johns Hopkins University School of Medicine
    Baltimore, MD, United States

    Disclosure(s): I have no relevant financial relationships to report.

  • Teresa Sparks, MD, MAS (she/her/hers)

    Maternal-Fetal Medicine and Clinical Genetics
    University of California, San Francisco
    San Francisco, CA, United States

    Disclosure(s): Ultragenyx: Participated on one-time advisory board (Terminated, July 1, 2022)

  • Neeta Vora, MD

    Professor
    University of North Carolina at Chapel Hill
    Chapel Hill, North Carolina, United States

    Disclosure(s): Illumina: Research (even if individual’s institution receives the research grant and manages the funds.) (Terminated, July 1, 2023)

This post-graduate course will review important clinical topics in prenatal genetics, including the role of cfDNA for single gene conditions, and diagnostic testing beyond microarray weighing gene panels vs. exome sequencing/genome sequencing. The attendee will also gain genetic knowledge through case presentations.

Supported by an independent medical education grant from Illumina, Inc.

Learning Objectives:

  • Define the appropriate uses of currently available molecular and cytogenetic tests to achieve a fetal genetic diagnosis.
  • Discuss new uses of cfDNA screening tests, such as for twin pregnancies and single gene analyses.
  • Differentiate between Mendelian patterns of inheritance, multifactorial inheritance, and the impact of environment on fetal disease.
  • Explain genetic diseases affecting the pregnant individual for which it is critical that obstetric providers understand associated risks.

Presentations:

  • 8:00 AM – 8:10 AM  
    Welcome and Introductions

    Presenter: Stephanie Dukhovny, MD (she/her/hers) – Oregon Health & Science University

    Presenter: Angie C. Jelin, MD (she/her/hers) – The Johns Hopkins University School of Medicine

  • 8:10 AM – 8:20 AM  
    Fellow Case Presentation

    Presenter: Matthew Shear, MD (he/him/his) – University of California, San Francisco (UCSF)

  • 8:20 AM – 9:00 AM  
    cfDNA-broad overview and testing for Single Gene Disorders

    Presenter: Stephanie Dukhovny, MD (she/her/hers) – Oregon Health & Science University

  • 9:00 AM – 9:10 AM  
    Panel Discussion with Q&A

    Panelist: Stephanie Dukhovny, MD (she/her/hers) – Oregon Health & Science University

    Panelist: Matthew Shear, MD (he/him/his) – University of California, San Francisco (UCSF)

  • 9:10 AM – 9:20 AM  
    Fellow case Presentation: highlighting benefits and drawbacks

    Presenter: Lauren Meiss, MD (she/her/hers) – Johns Hopkins Hospital

  • 9:20 AM – 9:50 AM  
    Microarray, Karyotype, FISH

    Presenter: Teresa N. Sparks, MD, MAS (she/her/hers) – University of California, San Francisco

  • 9:50 AM – 10:00 AM  
    Panel Discussion with Q&A

    Panelist: Lauren Meiss, MD (she/her/hers) – Johns Hopkins Hospital

    Panelist: Teresa N. Sparks, MD, MAS (she/her/hers) – University of California, San Francisco

  • 10:00 AM – 10:30 AM  
    Break
  • 10:30 AM – 10:45 AM  
    Fellow case Presentation

    Presenter: Shriddha Nayak, MD (she/her/hers) – Johns Hopkins University School of Medicine

  • 10:45 AM – 11:25 AM  
    Gene Panels, Exome Sequencing, Whole Genome Sequencing

    Presenter: Neeta L. Vora, MD – University of North Carolina at Chapel Hill

  • 11:25 AM – 11:55 AM  
    Complex gene disorders: Mendelian, environmental, multifactorial

    Presenter: Angie C. Jelin, MD (she/her/hers) – The Johns Hopkins University School of Medicine

  • 11:55 AM – 12:00 PM  
    Panel Discussion with Q&A

    Panelist: Angie C. Jelin, MD (she/her/hers) – The Johns Hopkins University School of Medicine

    Panelist: Shriddha Nayak, MD (she/her/hers) – Johns Hopkins University School of Medicine

    Panelist: Neeta L. Vora, MD – University of North Carolina at Chapel Hill

  • 12:00 PM – 1:00 PM  
    Lunch
  • 1:00 PM – 1:15 PM  
    Fellow Case Presentation

    Presenter: Alexandra D. Forrest, BA, MD (she/her/hers) – Johns Hopkins University

  • 1:15 PM – 2:00 PM  
    cfDNA Maternal Malignancy

    Presenter: Diana Bianchi, MD (she/her/hers) – Eunice Kennedy Shriver National Institue of Child Health and Human Development, National Institutes of Health

  • 2:00 PM – 2:40 PM  
    Must Know Maternal Genetic Diseases

    Presenter: April Adams, MD, MS (she/her/hers) – Baylor College of Medicine

  • 2:40 PM – 3:00 PM  
    Panel Discussion with Q&A

    Panelist: April Adams, MD, MS (she/her/hers) – Baylor College of Medicine

    Panelist: Diana Bianchi, MD (she/her/hers) – Eunice Kennedy Shriver National Institue of Child Health and Human Development, National Institutes of Health

    Panelist: Alexandra D. Forrest, BA, MD (she/her/hers) – Johns Hopkins University