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PGT – autosomal recessive — RACP Paediatrics MCQ

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ModerateGeneticsPGT – autosomal recessiveRACP Paediatrics

A couple with a child affected by a severe autosomal recessive condition wish to avoid having another affected child but also wish to avoid pregnancy termination. What reproductive option should be discussed?

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Correct answer: D — Preimplantation genetic testing (PGT)

Preimplantation genetic testing (PGT, formerly PGD) involves IVF with genetic testing of embryos before transfer, selecting unaffected embryos for implantation. This avoids the need for prenatal diagnosis and potential termination. It requires IVF, which has its own costs, risks, and success rates. Genetic counselling should discuss all reproductive options.

Reference: RACP Paediatric Curriculum – Genetics