When is genetic carrier screening recommended for genetic risk in related couples?

Being related can increase the chance that both partners share a recessive gene variant inherited from a common ancestor. A carrier often has no symptoms. Testing one or both partners can identify conditions that may affect a future child and can clarify whether further genetic counselling is useful.

Arrange a preconception appointment if possible and bring any known family diagnoses, previous genetic results, or details of children affected by an inherited condition. A clinician may suggest a targeted panel or broader screening. If one partner is found to carry a condition, testing the other partner helps interpret reproductive options.

Seek genetic counselling before trying to conceive when the couple are blood relatives, a family condition is known, or a previous pregnancy or child was affected by a genetic disorder. During pregnancy, contact the maternity team promptly after a carrier result so appropriate confirmatory testing and counselling can be discussed.

Ask which conditions are relevant to our family background, whether both partners should test, and how results could influence pregnancy planning. Ask whether a result needs confirmation and who will explain options without pressure.