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

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.