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

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]

Key teaching and communication objectives

Acknowledge and validate the parents' fear before delivering information, and allow silence. Explain in plain language that their baby is missing a small piece of genetic material on chromosome 22 — a microdeletion — and that the earlier karyotype was normal because that test is not sensitive enough to see a deletion this small, which is why the microarray was sent. Name that this single change can affect the heart, the palate, the calcium levels, the immune system, and learning, and that each of these can be monitored and managed. [1]

Address the immunisation pause directly and without alarm: some of the routine vaccines are live and are held only until the immune system is checked, because a child with a weaker immune system needs that check before those specific doses. Reassure the parents that this is a planned, temporary measure owned by the immunology team, and that the rest of the immunisation schedule continues. [9]

Address the online information honestly. Explain that the condition is variable — that many children attend mainstream school with support, that the heart will be repaired, and that the calcium and immune and learning needs are watched and managed through a structured plan. Acknowledge the psychiatric risk without minimising it, framing it as something the team will actively monitor and support from adolescence, so that early help is available. Avoid deficit language, name the baby by name, and frame the conversation around the person rather than the syndrome. [6]

Close with a shared plan and a clear next appointment, a connection to a 22q support organisation, and an open invitation to return with questions. Outline the immediate next steps — the cardiac repair plan, the calcium monitoring, the immune staging, and the palate and feeding assessment — and name the coordinator who will hold the plan together. [2] [6]