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Newborn Screening in Trisomy 21 — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicNewborn Screening in Trisomy 21RACP Paediatrics

A newborn with features of trisomy 21 is born at term. The newborn screening blood spot is collected at 48 hours. Which condition is specifically screened for on the Australian newborn bloodspot screening panel that is particularly relevant for this child?

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Correct answer: A — Congenital hypothyroidism

Children with trisomy 21 have a significantly increased risk of congenital hypothyroidism (approximately 1 in 140, compared to 1 in 3000 in the general population). The Australian newborn bloodspot screening program includes congenital hypothyroidism. Thyroid function should also be specifically monitored throughout childhood in children with trisomy 21, as autoimmune thyroid disease is also more common.

Reference: Australian Government Department of Health – 2024 – Newborn Bloodspot Screening