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CF – genetic counselling — RACP Paediatrics MCQ

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EasyGeneticsCF – genetic counsellingRACP Paediatrics

Parents of a child with cystic fibrosis (both parents are carriers) ask about the risk of their next child being affected. What is the correct recurrence risk?

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Correct answer: C — Autosomal recessive – 25% risk

Cystic fibrosis is autosomal recessive. When both parents are carriers (heterozygous), each pregnancy has a 25% chance of being affected, 50% chance of being a carrier, and 25% chance of being unaffected non-carrier. Prenatal testing and preimplantation genetic diagnosis are available options.

Reference: RACP Paediatric Curriculum – Genetics