Counsel a consanguineous couple on genetic risk to a future pregnancy — OSCE

Candidate brief

You have eight minutes to counsel a consanguineous couple planning a further pregnancy after the loss of their first child to an undiagnosed recessive illness. Use a structured, honest, empathic, non-directive approach that frames consanguinity as a risk modifier rather than a cause for blame, and offer a concrete pathway forward. [1] [2]

Key teaching and communication objectives

Acknowledge and validate the couple's grief and their sense of having been judged, and allow silence before delivering information. Establish that consanguinity is a common and accepted practice in many communities and is a risk modifier, not a wrongdoing, and that your role is to give them accurate information so they can make their own decisions. [2]

Explain the genetic mechanism in plain language: because first cousins share more genetic material than the population average, a rare recessive variant carried by both is more likely to be inherited by a child as two copies, and this is the likely basis of their first child's illness. Quantify the additional risk honestly — an added two to three per cent over the population baseline for a first-cousin union — while stressing that most children of consanguineous couples are healthy. [2] [3]

Outline a concrete pathway: where possible, establish a molecular diagnosis from the first child's records or stored samples, draw the pedigree together, offer carrier testing, and review the reproductive options — prenatal diagnosis, preimplantation genetic testing, donor gametes, and taking the risk — so the couple can choose according to their values. Stress that the decision is theirs and that the role of the clinician is to inform and support, not to direct. [1]

Close with a shared plan, a referral to clinical genetics for formal counselling and testing, and an open invitation to return with questions. Document the conversation and the agreed next steps. [1] [3]