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Paeds Casesgenetics-dysmorphology-and-metabolism

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.

osce communication and shared decision-making1 min readVerification in progress

Target exams

MRCPCH ClinicalRACP DCERCPSC Pediatrics
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Study tools

Target exams

MRCPCH ClinicalRACP DCERCPSC Pediatrics
Prompt
A consanguineous couple (first cousins) whose first child died at eight months of an undiagnosed metabolic illness are planning another pregnancy. They are anxious, have read conflicting information online blaming consanguinity for their child's death, and feel judged by previous clinicians. They ask whether it is safe to have another child and whether anything can be done. Counsel them.

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]

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References3ShowHide
  1. [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. [2]Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A, 2010.PMID 19805052
  3. [3]Gelb BD. Incomplete penetrance and variable expressivity: Old concepts, new urgency. Am J Hum Genet, 2025.PMID 40054435
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