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Navigating Genetic Evaluation and Counseling in Cases of Perinatal Demise

15 Mar 2024
Venue: MTCC
Meeting Room: 801 AB
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Health services and Implementation
  • Secondary Categories:
    • Health services and Implementation
  • Level of Learner:
    • Intermediate
Genetic abnormalities can contribute to recurrent pregnancy loss, intrauterine fetal demise, stillbirth, neonatal critical illness, and death soon after delivery. Despite the disproportionately high prevalence of genetic disease in these individuals, barriers exist to genetic testing that include risk of pregnancy loss with prenatal genetic testing approaches, the short window of opportunity for DNA sample collection postnatally following demise, billing practices, navigation of the psychosocial concerns, and which clinical team holds the primary responsibility for initiating the genetic testing process. Identification of a genetic diagnosis in the fetal tissue is one of the most important factors that informs recurrence risk for the family. Obtaining a DNA sample from the conceptus could fall on the obstetrician, neonatologist, pathologist, or geneticist. We present multiple viewpoints from the many teams that care for these patients to identify gaps in care, opportunities for improved communication, delineation of ownership of responsibilities, and emphasize the teamwork necessary for successful care of these families. 

Learning Objectives

  1. Describe key barriers and facilitators to postmortem genetic testing
  2. Describe the value of various research approaches to expanding knowledge of gene-disease associations with fetal loss
  3. Recount molecular autopsy policy implementation
  4. Illustrate the logistical and psychosocial experiences of providers and families in navigating prenatal loss
  5. Summarize the collaborative process of perinatal demise protocol development
  6. Outline incidence of genetic diagnoses in NICU mortality

Agenda

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