A5 - Human Genetics

• Describe the two tests of genetic disorders in pregnancy         

  • Amniocentesis tests the fluid around the foetus
  • CVS tests tissue from the foetal tissue/ Placenta  
• Diagnostic Testing

  • testing that identifies genetic disorders
• Amniocentesis

  • Removal from a sample of amniotic fluid
  • A long needle is guided by an ultrasound image
  • The chromosomes are examined under a microscope
  • This can diagnose genetic problems
• Two example of Congenital disorders

  • Downs Syndrome - is an extra chromosome - leading to developmental problems
  • Foetal alcohol syndrome - due to the mother drinking during pregnancy leading to developmental problems
• Chronic Villus Sampling


  A test done 10- 14 weeks where there is a high risk of chromosome abnormalities