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Down's Syndrome
Dr Katie Benner
VTS 1 in paediatrics
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
Clinical Features
maximal breadth of the skull in the coronal plain is more than 80% of the length in the sagittal plain
Short neck
Epicanthic folds
Inward down - mongoloid - slant to the eyes
Brushfield spots on the iris
almond shaped eyes
small simple ears, which may be low set
flat nasal bridge
protruding tongue, mouth hanging open
narrow high arched palate
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
Support for family
Referral to MDT
Referral to relevant specialists if complications
90% live to 5 years
Remainder die of congenital heart disease,
Hirschprung's and infection
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
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
Maternal risk
Woman's age (years)
Risk as a ratio
Below 20
1:1600 0.067
1:1500 0.066
1:800 0.125
1:270 0.37
1:100 1.0
45 and over 1.50 and greater