Reporting

Question 1

What should all cytogenetic reports contain?

Answer 1

• Karyotype using correct ISCN where practical
• type of analysis used
• clear written description of the result
• if appropriate, referral to clinical genetics

Question 2

What should an abnormal report contain?

Answer 2

• Karyotype using correct ISCN
• clear description of the abnormality
• state whether it is balanced or unbalanced
• the name of any associated syndrome
• methods used to establish the result
• relevant literature
• clinical interpretation which should include;
  consistent with clinical findings?
  request to follow up with family members starting with the closest available
  an assessment of recurrence/risk
  recommendation for prenatal diagnosis in further pregnancies
  referral to clinical genetics.