What are the treatment options for genetic risk in related couples?

Being related can increase the chance that both partners carry the same inherited gene change, but the actual risk depends on family history, ancestry, and the condition involved. A genetic counsellor can map relatives with known diagnoses, explain inheritance, and help both partners decide what information they want before testing.

Genetic carrier screening looks for selected inherited conditions in people who may have no symptoms. If both partners carry a change in the same recessive condition, options can include natural conception with prenatal testing, donor options, adoption, or IVF with PGT-M. PGT-M tests embryos for a known familial condition before transfer; it is relevant only when the gene change and testing approach are established.

Gather medical records and details of affected relatives, including the diagnosis and age at onset. Consider pre-marital screening where appropriate, then discuss whether expanded carrier screening is useful. Results should be interpreted with counselling because a negative panel does not examine every possible inherited condition and a finding may need confirmation.

Arrange genetic counselling before marriage or pregnancy when there is a known inherited condition, repeated pregnancy loss, a child with a genetic diagnosis, or several affected relatives. If you are already pregnant and a familial gene change is known, seek advice promptly because the timing of available testing can matter.

Ask which condition may run in the family, whether both partners need testing, what each result would mean for children, which prenatal tests are available, and whether PGT-M is technically suitable for the identified gene change.