Counsel parents given a new diagnosis of 22q11.2 deletion syndrome — OSCE

OSCE communication and shared-planning station: breaking the news of a 22q11.2 deletion syndrome diagnosis confirmed after a neonatal cardiac presentation, explaining the multisystem nature and the meaning of the chromosomal microarray, outlining the live-vaccine rule and the age-based surveillance plan in plain language, and offering honest prognostic framing while addressing fear.

osce communication and shared decision-making2 min readVerification in progress

Prompt

The parents of a four-day-old infant, just told that their baby has 22q11.2 deletion syndrome confirmed by chromosomal microarray after a tetralogy of Fallot was found on echocardiogram, are frightened and tearful. They have read online that their child will be intellectually disabled and will develop schizophrenia. They do not understand what a microarray is, why a karyotype was normal, or why the immunisation schedule has been paused. Counsel them.

Candidate brief

You have eight minutes to counsel the parents of a four-day-old infant given a new diagnosis of 22q11.2 deletion syndrome, confirmed by chromosomal microarray after a tetralogy of Fallot was found. Use a structured, honest, empathic approach that names the multisystem nature of the condition and builds a shared plan. ^[1] ^[2]

References4Show

[1]McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers, 2015.PMID 27189754
[2]Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr, 2011.PMID 21570089
[6]Scheuerle AE, Geleske TA, Merchant N, et al. Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report. Pediatrics, 2025.PMID 40685150
[9]Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A, 2018.PMID 29341423

Counsel parents given a new diagnosis of 22q11.2 deletion syndrome — OSCE

osce communication and shared decision-making2 min readVerification in progress

Candidate brief

References4Show

[1]McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers, 2015.PMID 27189754
[2]Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr, 2011.PMID 21570089
[6]Scheuerle AE, Geleske TA, Merchant N, et al. Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report. Pediatrics, 2025.PMID 40685150
[9]Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A, 2018.PMID 29341423