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Consanguinity counselling — RACP Paediatrics MCQ

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ModerateGeneticsConsanguinity counsellingRACP Paediatrics

First-cousin parents present for preconception counselling. They are both healthy with no known genetic conditions in the family. They ask about the genetic risk to their offspring. What is the most appropriate counselling?

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Correct answer: B — Increased risk of autosomal recessive conditions

First-cousin consanguinity (coefficient of inbreeding 1/16) increases the risk of autosomal recessive conditions due to shared ancestry. The background risk of a child having a significant birth defect or genetic condition increases from ~2-3% (general population) to ~4-7% for first-cousin couples. Carrier screening for common autosomal recessive conditions in their ethnic group is recommended.

Reference: RACP Paediatric Curriculum – Genetics; Australian Guidelines on Genetic Counselling