Carrier screening – consanguinity — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

ModerateGeneticsCarrier screening – consanguinityRACP Paediatrics

The same consanguineous couple are planning pregnancy. Both are of Middle Eastern descent. What is the most appropriate proactive genetic testing?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: A — Carrier screening of both parents

Carrier screening of both parents for common autosomal recessive conditions prevalent in their ethnic group (e.g., thalassaemia, sickle cell disease, CF, SMA, and expanded carrier panels for conditions with higher prevalence in consanguineous populations) is the most appropriate proactive step. If both parents are carriers of the same condition, preconception counselling about reproductive options (PGT-M, prenatal diagnosis) should follow.

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