Paediatric Genetics - Liam

Question 1

Down syndrome dysmorphic features

Answer 1

Hypotonia

Brachycephaly

Epicanthic folds

Single palmar crease

Question 2

Down syndrome complications

Answer 2

Learning disability

Deafness

Visual problems

Hypothyroidism

Cardiac defects (ASD, VSD)

Dementia

Leukaemia

Question 3

Down syndrome

• screening

Answer 3

• Combined test
  
  • beta-HCG - higher
  • PAPPA - lower
  • Triple test between 14-20 week
    
    • Beta-HCG - higher
    • Alpha-fetoprotein (AFP) - lower
    • Serum oestriol - lower
• Quadruple test
  
  • Also includes maternal blood for inhibin - A (higher)