Preconception carrier screening — RACP Paediatrics MCQ

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EasyGeneticsPreconception carrier screeningRACP Paediatrics

A healthy couple planning pregnancy asks about genetic testing options available before conception to identify if they are carriers of common autosomal recessive conditions. What type of screening is this?

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Correct answer: E — Preconception carrier screening

Preconception carrier screening (also called reproductive carrier screening) tests prospective parents for carrier status of common AR conditions (CF, SMA, fragile X, thalassaemia, and expanded panels). If both partners are carriers of the same condition, reproductive options (PGT-M, prenatal diagnosis, donor gametes) can be discussed before pregnancy. Mackenzie's Mission in Australia is evaluating free expanded carrier screening.

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