Paediatrics: Patau Syndrome: Free MSRA Podcast

🎙️ FREE MSRA PODCAST – Patau Syndrome (Trisomy 13)🧬 A high-yield, concise breakdown of one of the most severe autosomal trisomies, tailored for MSRA revision and clinical understanding.🧠 Key Learning Points📌 Definition• Patau syndrome, or Trisomy 13, is a genetic disorder caused by an extra copy of chromosome 13.• It results in multiple congenital anomalies and severe intellectual disability.• Often fatal within the first year of life.📌 Causes & Risk Factors• Most cases are sporadic, due to meiotic nondisjunction.• Rarely inherited; balanced translocations may play a role in recurrence.• Main risk factor: advanced maternal age.💡 Think: “Random copy, not inherited”📌 Pathophysiology• Gene dosage effect – extra chromosome leads to excess gene expression.• Disrupts organogenesis and embryonic development.• Multi-system impact: CNS, cardiac, craniofacial, limbs, renal and more.📌 Differential Diagnosis• ⚠️ Trisomy 18 (Edwards syndrome)• ⚠️ Other rare syndromes or pseudotrisomy 13• 🔬 Confirm with karyotype or chromosomal microarray.📌 Epidemiology• Affects ~1 in 10,000 to 1 in 16,000 UK live births.• 3rd most common autosomal trisomy after Down (21) and Edwards (18).📌 Clinical Features• Severe intellectual disability• Cleft lip/palate, polydactyly, microcephaly• Congenital heart defects (e.g. VSD, ASD, PDA, dextrocardia)• Holoprosencephaly, cutis aplasia, renal/cystic anomalies, scalp defects• Capillary haemangiomas, eye/ear defects, seizures, feeding difficulties📌 Diagnosis• Prenatal: Nuchal translucency scan, combined screening (10–14 weeks), CVS or amniocentesis• Postnatal: Clinical features + karyotyping or microarray• Additional tests: echo, brain imaging, x-rays, chromosomal studies on parents if needed📌 Management• Supportive and palliative – no cure• Multidisciplinary team: paediatrics, cardiology, genetics, palliative care• Feeding support (e.g. NG/G-tube), surgical input for clefts or heart defects• Genetic counselling essential for future pregnancy planning💡 Emphasis on quality of life, comfort, and parent choice📌 Prognosis• Median survival ~2.5 days• <10% live beyond 1 year• Profound disabilities in survivors• Mosaic trisomy 13 may have a milder course but still carries high risk📌 Complications• Cardiac failure, respiratory issues, seizures, renal abnormalities• Severe feeding problems, failure to thrive• Intellectual and physical developmental delays• High risk of early mortality📎 More MSRA Resources for Patau Syndrome📝 Revision Notes: https://www.passthemsra.com/topic/patau-syndrome-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/patau-syndrome-flashcards/💬 Accordion Q&A Notes: https://www.passthemsra.com/topic/patau-syndrome-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/patau-syndrome-rapid-quiz/🧪 Quiz Bank: https://www.passthemsra.com/quizzes/patau-syndrome/🎓 Full Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/📚 Explore more at:https://www.passthemsra.comhttps://www.freemsra.com🔖 Hashtags#MSRA #MSRARevision #PatauSyndrome #Trisomy13 #PaediatricsMSRA #GeneticsMSRA #MSRAFlashcards #MSRAQuiz #MSRAAccordions #MSRAQandA #MSRATextbook #MSRAOnline #MSRALearning #MSRAResources