Genetics Flashcards
1
Q
Reasons for Genetic Referral
A
- FHx of GENETIC CONDITION in RELATIVES
- DIAGNOSIS of GENETIC CONDITIONS = KNOWN/UNKNOWN
- MANAGEMENT of GENETIC CONDITIONS
GENETIC COUNSELLING = aids decision making/increasing understanding
2
Q
What do patients need to know prior to genetic test
A
- REASON FOR TEST
- LIKELIHOOD of TEST being +VE & WHAT HAPPENS if +ve test
- WHAT if TEST is -VE
- WHAT if FALSE +VE/-VE
- IMPLICATIONS FOR OTHER FAMILY MEMBERS of +VE RESULTS
- DNA STORED (in UK, stored for 30yrs - further testing can be done on sample to further clarify diagnosis)
3
Q
Reproductive Choices
A
- NOTHING/TESTING at BIRTH
- CHORIONIC VILLUS SAMPLING
- AMNIOCENTESIS
- PRE-IMPLANTATION GENETIC DIAGNOSIS - for IVF
- ADOPTION
- GAMETE DONATION
- NON-INVASIVE PRENATAL DIAGNOSIS/TESTING
4
Q
Newborn Screening
A
Clinical examination + hearing + blood spot ~ 5 days
Why? = early detection of pre-symptomatic babies, early treatment to improve health, reduce anxiety caused by uncertainty over symptoms before clinical diagnosis made
Conditions screened for: PKU, congenital hypothyroidism, sickle cell disorders, CF
