Genetic testing

Question 1

What is screening?

Answer 1

Use genetic tests to identify sufferers/carriers

Question 2

What is testing?

Answer 2

Identifying abnormal gene in DNA from a nucleus

Question 3

Why test for CF?

Answer 3

To see if potential parents are carriers
Test embryo before implantation
Test embryo
Confirm diagnosis from another method

Question 4

Where is DNA taken from?

Answer 4

Nuclei of cheek cells or WBC

Question 5

Amniocentisis

Answer 5

Insert needle into amniotic fluid via abdomen wall to collect fetal cells that have fallen off the placenta
15-17 weeks
1% miscarriage risk
Invasive procedure

Question 6

CVS

Answer 6

Invase
Small sample of placental tissue removed through abdomen or vagina
8-12 weeks
1-2% miscarriage risk

Question 7

NIPD

Answer 7

Sample of mothers blood taken
Analyses DNA fragments in mums blood plasma
Some DNA passd from baby to mother - test for paternal mutation
7-9 weeks
No miscarriage risk

Question 8

PGD

Answer 8

Used if there is serious family condition
In IVF, at 8 cell stage one cell is removed for testing without harm
DNA analysed and if OK, embryo is implanted
Expensive and stressful

Question 9

What are the ethical framework

Answer 9

Rights and duties - right to life
Maximising amount of good - unethical to raise a child with severe disease
Making decision yourself - up to parents decide
Leading virtuous life - parents would always love their child

Question 10

Describe genetic consellor

Answer 10

How a disease is inherited, change of baby having disease, test available, courses of action
Don’t tell them what to do only advise