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Down's Syndrome

Dr Katie Benner VTS 1 in paediatrics. Down's Syndrome. Definition. In 1887 Landon-Down described a syndrome of physical anomalies and mental handicap Was previously known as “Mongolism”, now known as Down's syndrome or trisomy 21

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Down's Syndrome

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  1. Dr Katie Benner VTS 1 in paediatrics Down's Syndrome

  2. Definition • In 1887 Landon-Down described a syndrome of physical anomalies and mental handicap • Was previously known as “Mongolism”, now known as Down's syndrome or trisomy 21 • Commonest of the chromosomal disorders and major cause of mental retardation • Incidence increases with maternal age

  3. Clinical Features • Brachcephaly maximal breadth of the skull in the coronal plain is more than 80% of the length in the sagittal plain

  4. Short neck • Epicanthic folds

  5. Inward down - mongoloid - slant to the eyes • Brushfield spots on the iris

  6. almond shaped eyes • small simple ears, which may be low set • flat nasal bridge

  7. protruding tongue, mouth hanging open • narrow high arched palate

  8. Associations • duodenal atresia (10%) • Hirschsprung's disease (3%) • other intestinal atresias • Up to 40% have congenital heart disease: • atrioventricular canal - the most common • ventricular septal defect • patent ductus arteriosus • atrial septal defect - ostium primum (40%) • tetralogy of Fallot

  9. Management • Support for family • Referral to MDT • Referral to relevant specialists if complications arise

  10. Prognosis • 90% live to 5 years • Remainder die of congenital heart disease, Hirschprung's and infection

  11. Antenatal issues • All pregnant women should be offered screening (but it is their choice to decline) • From 10+0 to 20+0 weeks • 2 different tests depending on when woman presents • If up to 14+1 gets triple test hCG, PAPP-A and nuchal translucency • If 14+2 to 20+0 gets hCG, AFP, uE3, inhibin A

  12. Maternal risk Woman's age (years) Risk as a ratio %Risk Below 20 1:1600 0.067 20 1:1500 0.066 30 1:800 0.125 35 1:270 0.37 40 1:100 1.0 45 and over 1.50 and greater 2.0

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