Paediatrics: Edward's Syndrome (Trisomy 18): Free MSRA Podcast

⚕️ FREE MSRA PODCAST – Edwards Syndrome (Trisomy 18)🎧 A clear, high-yield breakdown of this severe chromosomal condition – perfect for exam prep and real-life clinical scenarios.🧠 Key Learning Points📌 Definition• Edwards syndrome (Trisomy 18) is a genetic disorder caused by an extra copy of chromosome 18, leading to widespread developmental abnormalities and a high infant mortality rate.📌 Causes & Risk Factors• Most commonly due to non-disjunction during gametogenesis (not usually inherited)• Advanced maternal age is the primary risk factor• Rarely due to balanced translocation in a parent• Mnemonic: “18 = 1 egg, 1 extra” (Non-disjunction → Trisomy 18)📌 Pathophysiology• Overexpression of genes on chromosome 18• Leads to abnormal organ development, growth restriction, and multi-system malformations• Often affects heart, brain, hands, feet, and facial features📌 Symptoms• Severe intellectual disability• Clenched fists with overlapping fingers• Rocker-bottom feet• Low birth weight, micrognathia, microcephaly, low-set ears• Heart defects (e.g. VSDs, ASDs), omphalocele, polyhydramnios• Antenatal signs: increased nuchal translucency, absent nasal bone, reversed ductus venosus flow• Mnemonic: “Heart, Head, Hands, Feet, Gut, Genitals”📌 Differential Diagnosis• Trisomy 13 (Patau syndrome)• Trisomy 21 (Down syndrome)• CHARGE syndrome• Pena–Shokeir syndrome• Fetal akinesia sequence• General chromosomal syndromes📌 Diagnosis• Antenatal: Ultrasound → raised suspicion• Definitive: Karyotyping or chromosomal microarray• Postnatal confirmation via physical signs and genetic testing• Investigations tailored to anomalies (echo, renal US, brain imaging)📌 Management• Multidisciplinary team approach: neonatology, genetics, cardiology, palliative care• Primarily supportive care• Surgical interventions considered in select cases (e.g. correctable heart defects)• Feeding support (often via NG/PEG), respiratory monitoring• Parental counselling essential📌 Complications• Severe global developmental delay• Congenital heart disease• Feeding and breathing difficulties• Recurrent infections• Short life expectancy📌 Prognosis• Poor overall• Median survival: 14 days• ~20% survive to 3 months, ~8% to 1 year• Death commonly due to central apnoea, cardiac failure, or respiratory complications📎 More MSRA Resources for Edwards Syndrome (Trisomy 18)📝 Revision Notes: https://www.passthemsra.com/topic/edwards-syndrome-trisomy-18-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/edwards-syndrome-trisomy-18-flashcards/💬 Accordion Q&A Notes: https://www.passthemsra.com/topic/edwards-syndrome-trisomy-18-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/edwards-syndrome-trisomy-18-rapid-quiz/🎓 Full Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/🧠 Extra Quiz: https://www.passthemsra.com/quizzes/edwards-syndrome/#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQ&ANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #Paediatrics #EdwardsSyndromeMSRA #Trisomy18