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trisomy 18


  • 1. Edwards syndrome Presented by Amrutha Ramakrishnan Nair

2. Edwards syndrome The trisomy 18 syndrome, also known as Edwards syndrome Common autosomal chromosomal disorder Presence of an extra chromosome 18. 3. Edwards syndrome The syndrome pattern Comprises of major and minor anomalies, an increased risk of neonatal and infant mortality, significant psychomotor and cognitive disability. 4. Prevalence at birth higher in females compared to males Epidemiology Trisomy 18 is the second most common autosomal trisomy syndrome after trisomy 21. 1 in 6,000 BIRTHS 5. Types 1. Regular or full (severe) this is when every cell in the body has three copies of chromosome 18 94% of cases 6. Types 2. Mosaic (less severe) when some cells have the usual two copies and some have three copies of chromosome 18. The extent and severity of the condition will depend on how many cells have the extra copy of chromosome 18 5% 7. Types 3. Partial when there is an extra copy of only a part of chromosome 18. The effects of this may be milder 8. ETIOLOGY The extra chromosome is present because of non disjunction methylene tetrahydrofolate reductase gene (MTHFR) Polymorphisms in mothers Advancing maternal age. A small positive association of paternal age 9. PATHOGENESIS caused by a genetic abnormality before conception, when egg and sperm cells are made. A healthy egg or sperm cell contains 23 individual chromosomes one to contribute to each of the 23 pairs of chromosomes needed to form a healthy, 46 chromosome cell. 10. PATHOGENESIS sometimes egg and sperm cells are left with 24 (or more) chromosomes. joining of these egg or sperm cellsa trisomy fetus to be formed. 11. Clinical description Prenatal growth deficiency Specific craniofacial features minor, major malformations, marked psychomotor and cognitive developmental delay 12. Clinical description The growth delay starts in prenatal period and continues after the birth Associated with feeding problems that may require enteral nutrition. 13. PROMINENT OCCIPUT SMALL MOUTH AND JAW SMALL NECKWIDE NIPPLESDYSPASTIC EARS SHORT STERNUMSHIELD CHESTCLENCHED HANDSFLEXED BIG TOEPROMINENT HEELS 14. smooth 'rocker bottom' feet (with a rounded base) 15. clenched fist with overriding fingers (index finger overlapping the third and 5th finger overlapping the 4th 16. dolicocephaly anomalies of the earsskin at the back of the neckShort palpebral fissures micrognathia 17. short sternumclub feetsmall fingernails, underdevelop ed thumbs 18. Cardiovascular 80%-100% ventricular and atrial septal defects, patent ductus arteriosus and polyvalvular disease 19. RESPIRATORY upper airway obstruction (in some case due to a laryngomalacia or tracheobronchomalacia) and central apnea 20. Ophthalmologic Ears and hearing Musculoskeletal Genitourinary Neoplasia Neurologic 21. CENTRAL NERVOUS SYSTEM cerebellar hypoplasia, agenesis of corpus callosum, polymicrogyria, spina bifida craniofacial orofacial clefts eye microphthalmia, coloboma, cataract, corneal opacities 22. Gastrointestinal abnormalities omphalocele, oesophageal atresia tracheo-oesophageal fistula, umbilical or inguinal hernia imperforate anus, pyloric stenosis. 23. DIAGNOSIS PHYSICAL FEATURES XRAY ECHO KARYOTYPING 24. Antenatal diagnosis maternal serum analysis human chorionic gonadotropin, unconjugated estriol,and alphafetoprotein are significantly lower, amniocentesis, chorionic villus sampling. 25. ULTRASONOGRAPHY FIRST TRIMESTER SCREENING (nuchal translucency, pregnancyassociated plasma protein and free beta-hCG) SECOND TRIMESTER quadruple screening (serum alpha-fetoprotein, total hCG, unconjugated estriol and inhibin A) 26. ULTRASONOGRAPHY growth retardation, polyhydramnios, strawberry-shaped cranium (brachycephaly and narrow frontal cranium), 27. ULTRASONOGRAPHY overlapping of hands fingers (second and fifth on third and fourth respectively), congenital heart defects, omphalocele, single umbilical artery The prevalence of growth retardation and polyhydramnios increases with gestational age 28. Trisomy 18 pregnancies have a high risk of fetal loss and stillbirth 29. Survival after birth and neonatal management There is a high percentage of fetuses dying during labor (38.5%), and the preterm frequency (35%) Approximately 50% of babies with trisomy 18 live longer than 1 week, and 5-10% of children survive beyond the first year 30. Causes of death Central apnea, cardiac failure due to cardiac malformations respiratory insufficiency due to hypoventilation, aspiration, upper airway obstruction 31. Growth and feeding Prenatal growth retardation 1700-1800 g Weight and height < the third centile in the postnatal period feeding difficulties sucking and swallowing problems Gastroesophageal reflux pneumonia and aspiration 32. Developmental and behavior Developmental delay is always present marked to profound degree of psychomotor and intellectual disability slow gaining of some skills Expressive language and independently walk are not achieved 33. A young lady with full trisomy 18 in early childhood and in adolescence; she lived to 19 years of age and achieved multiple milestones, including sitting and walking in a walker. 34. How Is it Treated? There is no cure for Edwards syndrome. Ninety to 95 % of all babies born with it die within a year of birth. The few infants that do survive need special treatment--ranging from muscular therapy to nervous system and skeletal corrections-for their various handicaps. 35. MANAGEMENT nutritional support, treatment of infections, transfusions for low blood cell counts, medications such as diuretics and/or digoxin to manage heart failure 36. MANAGEMENT Health supervision and management follow-up visits anticipatory guidance immunizations 37. Can Trisomy 18 Be Passed to Future Generations? Trisomy 18 is caused by nondisjunction, it cannot be passed on to future generations.