Skip to main content

Conference Program

Subpage Hero


Challenge the Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)

15 Mar 2024
Venue: MTCC
Meeting Room: 718
Prenatal Genetics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
This is an exciting new format for this session!  The session provides attendees an opportunity to present cases to a panel of experts and an audience of geneticists for discussion of differential diagnosis, treatment, and counseling options.  Three prenatal and three pediatric cases will be selected (rare knowns and unknowns) for an interactive session with the audience and the expert.  The presenter will have the opportunity to "challenge the expert" with their case.  Prenatal cases include those that are rare knowns of prenatally diagnosed malformations, genetic syndromes, or potential genetic syndromes and include ultrasound findings, management, and if available, postnatal findings.  Pediatric cases can be an unknown or a rare known that has not been presented previously as an unknown.
Each presentation will be limited to 10 min, with 5 min for audience and expert participation. 

Learning Objectives

  1. Discuss a case presentation from chief complaint to diagnosis
  2. Contribute to a differential diagnosis
  3. Review diagnostic workup suggested by experts
  4. Recognize clinical features of rare disorders