Down syndrome — branching viva

Opening question

A newborn on the postnatal ward is hypotonic with the characteristic facial gestalt, and the microarray shows additional chromosome 21 material. How do you confirm the diagnosis, and why does the genetic mechanism matter beyond the label? [1] [2]

Branch 1 — the immediate cardiac and surgical threats

Take the same child. What is the cardiac surveillance that must happen by six weeks, and why can the lesion be silent? Now the child develops bilious vomiting on day two — what is the diagnosis and your immediate management? [2] [1]

Branch 2 — the haematology trap

A blood count at one week shows a blast excess. What is transient abnormal myelopoiesis, what mutation drives it, and how do you distinguish observation from the need for treatment? What is the long-term leukaemia risk in this child? [3]

Branch 3 — the under-diagnosed complication

Fast forward to age four: behavioural change, snoring, restless sleep. What complication are you looking for, how common is it in Down syndrome, and what investigation confirms it? [4]

Closing — the lifespan schedule

In one sentence, what is the principle of Down syndrome management across the lifespan, and why is the surveillance schedule a checklist rather than a single visit? [2] [1]