Down's

• What is Down's?


  Genetic disorder
• What causes Down's?


  Extra copy of chromosome 21
• What is the most common chromosomal abnormality?


  Down's
• What increases the risk of Down's?


  Maternal age
• What are some clinical features of Down's?


  Flattened facial profile

  Upward slanting eyes

  Single crease across the palm
• What are some cardiac complications of down's?


  Endocardial cushion defect

  VSD

  ASD (secundum)

  ToF

  Isolated PDA
• What are some 'later' complications in Down's?


  Subfertility

  Learning difficulties

  Short stature

  Repeated resp infection

  Hypothyroidism

  Alzheimer's disease
• Individuals with Down's syndrome are more likely to suffer from vision and hearing problems
• What is the NICE guidelines for screening for Down's?


  Nuchal translucency measurement + serum B-HCG + pregnancy associated plasma protein A
• When should the antenatal screening tests for Down's be done?


  between 11 - 13+6 weeks
• What should be offered if women book later in prgnancy for antenatal Down's screening?


  Triple or quadruple test should be offered
• Children with Down syndrome have an increased risk of acute lymphoblastic leukaemia