OSCE things

Question 1

Down’s Syndrome screening

Answer 1

55% are detected antenatally, only 5% choose to continue pregnancy.

Measure AFP, hCG and oestriol markers in blood.Look at nuchal fold thickness. This gives risk score, which is it’s high can then do diagnostics testing via chorionic villus sampling or amniocentesis.

Question 2

Down’s syndrome

Answer 2

Extra chromosome 21

Presentation:

• Upward sloping palpebral fissures
• Epicanthal folds
• Flat occiput
• Single palmar creases
• Mild/moderate developmental delay
• Sandal gap
• Congenital heart defects - esp AVSD
• Increased risk of leukaemia (ALL)
• Increased risk of duodenal atresia, Hirschsprung’s
• Hypothyroidism