For informed conversations with your healthcare team. This guide is not personalised medical advice and has not been individually reviewed by a clinician.
Identify exactly what is being tested
Pre-implantation genetic testing for monogenic disorders, or PGT-M, looks for a specific inherited genetic condition in embryos created through IVF. It is different from chromosome-number screening offered as PGT-A. A family history alone may not give the laboratory enough information to design the appropriate test. Arrange a genetics consultation and ask which reports or family samples are needed. If you are considering an overseas clinic, send the confirmed genetic findings before booking a cycle. The team should explain whether it can test for your particular condition and how that conclusion has been reached.
Discuss uncertainty as well as selection
The HFEA explains that PGT-M is not completely accurate and that treatment may produce no embryos suitable for transfer. Ask how the laboratory reports an inconclusive result, what further discussion would follow and whether confirmatory testing during pregnancy may be advised. The consultation should also cover the usual implications of IVF for someone who may not otherwise have fertility difficulties. Take time to compare available reproductive options with a genetics professional. A test designed to reduce the risk of one inherited condition cannot promise a child free from every health problem, and the consent discussion should make those limits clear.
Build the trip around laboratory readiness
Confirm that the testing arrangements are in place before medication starts. Ask whether samples are analysed at the fertility centre or sent elsewhere, who communicates results and how translation is handled. Different countries may apply different rules to embryo testing, so obtain advice about the destination's requirements rather than assuming UK arrangements apply. Clarify whether embryos will be frozen while results are reviewed and what another visit would involve. Keep the genetic counselling summary and laboratory report securely accessible for future care. Decisions about an embryo result deserve a planned consultation, not a hurried call while arranging flights home.
Questions to take with you
- Can the laboratory test our confirmed condition?
- How are inconclusive results handled?
- What must be ready before IVF starts?
Sources & further reading
Further reading from the medical, regulatory and specialist organisations cited in this article.
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