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Folio edition · Set in Instrument Serif & Archivo

Paeds Vivaspreventive-and-community-paediatrics

Paeds Vivas · preventive-and-community-paediatrics

Newborn bloodspot screening for inherited metabolic disease and follow-up — branching viva

Branching viva from incomplete bloodspot cards through critical CH result, galactosaemia feed safety, MCADD education and parental refusal.

branching clinical structured oral
On this page & tools

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
You are the postnatal and community paediatric registrar. Newborn bloodspot issues are released in stages by the examiner.

Station opening

Examiner: "The baby looks perfect. Why are you delaying discharge for a blood test card?" [17]

Strong candidate (must-hit)

  • Bloodspot is a closed-loop programme, not optional paperwork. [17]
  • Distinguishes clear, positive, unsatisfactory and incomplete states. [17]
  • Names an owner for incomplete items. [17]

Weak candidate

  • "Feeding well so the GP can do it sometime." [17]
  • Collapses screening into diagnosis language. [17]

Branch A — Critical TSH

Examiner: "Day 7, thriving infant, critical TSH on bloodspot." [3]

Strong

  • Same-day contact; confirmatory free T4/TSH; protocolised levothyroxine pathway; endocrine follow-up. [3]
  • Explains brain risk despite well appearance. [3]

Weak

  • "Review at 6 weeks if still well." [3]

Branch B — Possible classic galactosaemia

Examiner: "Screen suggests classic galactosaemia. Baby is on milk and looks fine." [10]

Strong

  • Stop galactose-containing feeds now; suitable alternative formula; confirm diagnosis; watch for sepsis/liver failure. [10]

Weak

  • Continues milk until "the enzyme comes back next week." [10]

Branch C — MCADD education

Examiner: "MCADD is confirmed. Teach the parents in one minute." [7]

Strong

  • Avoid prolonged fasting; illness emergency regimen; early presentation if intake fails. [7]

Weak

  • "No special care after the newborn period." [7]

Branch D — Refusal

Examiner: "Parents decline the heel prick after online reading." [17]

Strong

  • Explores reasons, corrects specific myths, documents residual risk, offers lawful process, ensures not lost to follow-up. [17]

Weak

  • Coercive confrontation or complete disengagement with no safety-net. [17]

Close

Examiner: "One-sentence handover." [17]

Strong

  • Card status, result state, open actions, owner, family contacts, safety-net. [17]

References

  1. [3]van Trotsenburg, P Congenital Hypothyroidism consensus guidelines update. Thyroid, 2021.PMID 33272083
  2. [7]Mason, E Medium-chain Acyl-COA dehydrogenase deficiency. Endocrinology, diabetes & metabolism, 2023.PMID 36300606
  3. [10]Berry, GT Galactosemia: when is it a newborn screening emergency? Molecular genetics and metabolism, 2012.PMID 22483615
  4. [17]O'Leary, P Newborn bloodspot screening policy framework for Australia. Australasian medical journal, 2015.PMID 26464586