Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel a consanguineous couple on genetic risk to a future pregnancy — OSCE
OSCE communication and shared decision-making station: counselling a consanguineous couple who lost a child to an undiagnosed autosomal recessive illness, framing consanguinity as a risk modifier rather than a blame, quantifying the recurrence risk honestly, drawing the pedigree with the family, and laying out the reproductive options non-directively.
On this page
Study tools
Target exams
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]
References3ShowHide
- [1]Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns, 2008.PMID 18792771
- [2]Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A, 2010.PMID 19805052
- [3]Gelb BD. Incomplete penetrance and variable expressivity: Old concepts, new urgency. Am J Hum Genet, 2025.PMID 40054435