How effective is PGT-M for genetic risk in related couples?

Being biologically related can increase the chance that both partners carry the same recessive condition, particularly when it is present in the family. PGT-M is designed for a specific gene change or condition. Embryos are created through IVF, tested for the agreed familial variant, and considered for transfer according to the result and the clinic's policy. The test cannot screen for every possible condition, and a result may be unavailable or unclear. Confirmatory testing in pregnancy is usually discussed as part of counselling.

Start with genetic counselling and testing for both partners and, where helpful, affected relatives. The laboratory then develops a customised test for the known family variant, which can take preparation before IVF begins. Discuss options if few embryos are available or none are suitable, including prenatal diagnosis, donor conception or another family-building route. Ask how samples are handled and how results are communicated.

Seek urgent medical advice during IVF for severe pain, heavy bleeding, breathing difficulty, faintness or rapid abdominal swelling. During pregnancy, contact your maternity service for bleeding, severe pain, fluid loss or reduced fetal movement when relevant to your stage. Arrange prompt genetic review if a result is unexpected, inconclusive or differs from the family diagnosis.

Ask whether the family condition has a confirmed variant, how the inheritance pattern affects your options, and whether PGT-M can be built for it. Clarify residual risk, confirmatory pregnancy testing, possible results and alternatives if no embryo is suitable.