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Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow.

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Summary

Genetic testing for perinatal demise is often missed. A new multidisciplinary workflow improves access to genetic evaluation for stillbirth and neonatal death, enhancing diagnosis and family support.

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Area of Science:

  • Genetics
  • Perinatology
  • Neonatology

Background:

  • Genetic causes of perinatal demise are frequent but often undiagnosed.
  • Clinical and logistical barriers limit access to genetic testing.

Purpose of the Study:

  • To develop a multidisciplinary workflow to improve genetic testing access for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death.
  • To address barriers and enhance genetic evaluation in perinatal loss.

Main Methods:

  • A working group with diverse specialists identified barriers and designed solutions.
  • Developed tools: testing algorithms, specimen guides, documentation templates, and EHR integration.
  • Iterative refinement based on case reviews and stakeholder feedback.

Main Results:

  • The workflow clarified roles, timing, and coordination across specialties.
  • Scenario-specific algorithms and a specimen-testing matrix guided decisions.
  • Demonstrated improved sample collection, diagnostic yield, and family counseling.

Conclusions:

  • A multidisciplinary workflow enhances the feasibility and consistency of genetic evaluation in perinatal demise.
  • This model can guide other institutions in implementing genetic testing for pregnancy loss and neonatal death.