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Genetic testing after pregnancy loss

This hub provides practical guidance, training resources, and evidence-based recommendations to support safe, consistent genomic testing following pregnancy loss. It is aimed at Bereavement Midwives and Maternity staff and has been developed as part of the Genomic Services Provision in the Context of Fetal Loss project (2025/26).

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Non-urgent advice: On this page

  • Why genomic testing matters
  • Summary of project findings
  • Leadership actions to strengthen genomic pathways
  • Education tools & training resources
  • Supporting consent
  • Support in the clinic
  • Useful links and resources

Overview

Genomic testing after pregnancy loss can provide vital answers for families, supporting understanding of causation and informing future pregnancies. However, an East Genomics review identified significant variation in access, pathways, and staff confidence.

This learning hub brings together practical tools, training resources, and evidence-based consideration to support bereavement midwives and maternity teams in delivering safe, equitable genomic care.

Why Genomic Testing Matters

  • Genomic testing may offer clearer diagnostic information
  • Supports recurrence-risk counselling
  • Helps guide future pregnancy planning
  • Postmortem findings support genomic interpretation
  • Inequity occurs when pathways vary
  • National Genomic Test Directory expectations

About the Project

What We Heard: Summary of Project Findings

Key themes from the report identified:

  • Variation and inequality of care
  • Variation in criteria for postmortem and genomic investigations
  • Knowledge gaps in genomic testing and pathways
  • Postmortem and genomic pathways are complex and slow
  • Follow-up is inconsistent and consultant-dependent
  • Subsequent pregnancy support is valued but limited

Leadership Actions to Strengthen Genomic Pathways

Suggested actions (based on our report):

  • Ensure staff know the Named Clinical Genetics contact for genomic advice
  • Standardise local genomic testing pathways
  • Maintain a register of staff trained to obtain consent
  • Introduce a minimum-information checklist for genomic and postmortem requests
  • Improve communication between maternity, pathology, and Clinical Genetics
  • Strengthen dissemination of national genomic updates
  • Ensure access to genomic training
  • Support staff wellbeing

Coming soon: Our full report on the Genomic Services Provision in the Context of Fetal Loss project, plus an executive summary.

Educational Tools & Training Resources

Bitesize Video Series

What does Genetics Actually Mean?

A brief overview of the basics of genetics and genomics

What this video covers

  • Revision of the fundamentals
  • The technologies available for testing chromosomes
  • The technologies available for single gene disorders
When to Offer Postmortem and Genomic Testing

These videos explain when testing should be considered.

What these videos cover:

  • Indications for postmortem
  • When genomic testing is appropriate
  • How to avoid missed opportunities

Please be aware that the R297 test has been retired and added to R464 Recurrent miscarriage where products of conception are not available for testing - parental karyotype, as a new overlapping Clinical Indication.

Genomic Testing in Recurrent Miscarriage

These videos focus on recurrent miscarriage and early pregnancy pathways.

What this video covers:

  • When to test in recurrent miscarriage
  • Relevant R-codes
  • Equity issues in early pregnancy pathways

Please be aware that the R297 test has been retired and added to R464 Recurrent miscarriage where products of conception are not available for testing - parental karyotype, as a new overlapping Clinical Indication.

Recognising When a Genetic Condition May Be Present

What this video covers:

  • Key phenotypic clues
  • How to recognise patterns
  • When to escalate to Clinical Genetics
Clinical Scenarios and Fetal Medicine Cases

These videos show how genomic testing applies in real-world situations.

What these videos cover:

  • Practical examples
  • How decisions are made
  • How fetal medicine and bereavement teams work together
Practical “How-To” for Requesting and Processing Tests

Sample Suitability and Referral Forms

Sample Pathway within the Laboratory

Which referrals get tested?

Supporting Consent

Consent for genomic testing after pregnancy loss requires clarity, sensitivity, and confidence. This PowerPoint has been designed specifically for bereavement midwives and maternity staff to support high-quality, consistent consent discussions across the region.

Support in the clinic

Quick-reference tools to guide safe, confident genomic care during bereavement appointments.

To help bereavement midwives feel supported during real-time clinical conversations, we have developed two practical resources designed for use at the point of care: GeNotes and the Genomic Testing after Pregnancy Loss Poster (coming soon). These tools provide clear, accessible guidance when decisions need to be made quickly and sensitively.