Flashcards in Genetic dilemmas Deck (10)
What is the role of a clinical geneticist?
- Identify patients with, or at risk of a genetic condition
- Communicate genetic information in an understandable, non-directive manner
- Offer recommendations (screening)
- Discuss implications of gene testing
- Options (treatment)
Type of inheritance in Huntingtons?
If a daughter tests positive for Huntingtons disease who should be tested next?
The father will be a obligate carrier
- Chorionic villus sampling >11 weeks
- 12 week viability scans (USS) - Nuchal folds
- Amniocentesis >15 weeks
Which mutations are associated with developing breast and ovarian cancer?
BRCA1 and BRCA2
What tests can be used to screen fro breast cancer?
- Genetic screening for mutations in BRCA1 and BRCA2
If an individual is BRCA1 or BRCA2 positive what treatment may they consider?
Prophylactic surgery to remove their breast or ovaries
What are the risks involved in antenatal testing?
- Increased risk of miscarriage
- 50% risk of terminating a healthy fetus
If a father is positive for Huntington's what is the chance of the child being positive?