Genetic Counseling Flashcards
Genetic Counselor
Role is to provide information and support to families who have members with birth defects. They also identify families at risk, investigae the problem in the fam, interpret disease info and analyze inheritance patterns.
Goals of genetic counseling
- diagnosis and its implications
- The role of heredity
- The risk of recurrence and options
- Possible courses of action
- Methods of on-going adjustment
Why do genetic counselors never tell people “this is what you need to do…”
Genetic counseling and testing is a very personal choice.
What is the threshold number for miscarriages that you begin to wonder if there is another factor?
3
What are some reasons for multiple miscarriages?
Maternal disease/autoimmune condition, uterine structural anomaly, thrombophilia (usually miscarriage in 2nd trimester), parental chromosome rearrangement
What is the most common form of X linked mental retardation?
Fragile X
Presymptomatic testing
Genetic testing done to dianose the presence of a disorder, which will eventually occur, before its manifestations. This is done for family histories with Huntington’s
Which genes are responsible for inherited breast and/or ovarian cancer?
BRCA1 and BRCA2. Mutations in these genes do not mean that someone will definitely develop breast or ovarian cancer, it just places someone at a higher lifetime risk of developing breast and ovarian cancer.
Predisposition testing
Testing done to look for something that places an individual at a higher risk that a condition will occur.
Which ethnic group is most at risk for Cystic Fibrosis?
North European caucasians
Which 4 conditions are recommended by ACOG for Ashkenazi Jewish populations to be screened for?
Tay Sachs, Cystic Fibrosis, Canavan Disease, Familia Dysautonomia
