What is PGT-M done with?

PGT-M means preimplantation genetic testing for monogenic disease. It is used when a family has a known gene change that may be passed to a child. Before IVF testing begins, the laboratory usually needs information about the gene change and may build a personalised testing approach for the family.

During IVF, a small sample of cells is taken from an embryo at the appropriate stage. The sample is analysed for the specific gene change, sometimes with next-generation sequencing and family-based comparison. The embryo is generally frozen while the laboratory prepares and reports the result.

Bring any available genetic reports and ask whether relatives need testing to help the laboratory design the assay. Discuss how embryos will be grouped according to the condition being tested and how uncertain or inconclusive findings will be handled.

PGT-M is targeted: it does not rule out every genetic, developmental, or pregnancy-related concern. Prenatal testing may still be offered after pregnancy. A genetic counsellor can help you weigh the laboratory information alongside your family plans and treatment choices.

After egg collection or another IVF procedure, seek urgent help for severe pain, heavy bleeding, faintness, breathing difficulty, or rapidly increasing abdominal swelling. Contact the clinic if you are unsure how to interpret a PGT-M report or if a result conflicts with the family genetic information used to design testing.

What gene change will the test look for, and how will the laboratory validate the test for my family? What does an affected, unaffected, carrier, or inconclusive result mean? Should we arrange genetic counselling or prenatal testing after transfer?