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AVSD – amnio trisomy 21 — RACP Paediatrics MCQ

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ModerateCardiologyAVSD – amnio trisomy 21RACP Paediatrics

An 18-week fetal echo identifies a complete AVSD. What additional investigation should be offered?

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Correct answer: DAmniocentesis for karyotype

~40-50% of complete AVSDs are associated with trisomy 21. Amniocentesis for karyotype/microarray should be offered.

Reference: RACP Paediatric Curriculum – Cardiology/Genetics