SPEC POINT 2.15

Question 1

Describe the uses of genetic testing:

Answer 1

1. confirm diagnosis
2. identify carriers
3. testing embryos

Question 2

What is amniocentesis?

Answer 2

A diagnostic test carried out during pregnancy, performed at 14-20 weeks and involves inserting a needle into amniotic fluid to collect cells that have fallen off the placenta and foetus

Question 3

What are the benefits and issues with amniocentesis?

Answer 3

ADVANTAGES:
1. allows parents to know if fetus has genetic disorder
DISADVANTAGES:
1. risk of miscarriage
2. chance of incorrect result
3. parents may opt for abortion if result is positive

Question 4

What is CVS and how does it work?

Answer 4

CVS = chronic villus sampling
A test carried out during pregnancy where a sample of cells are removed and tested from the placenta. Checks baby for inherited disorders such as Down’s syndrome and rarer diseases

Question 5

What are the benefits and issues with CVS?

Answer 5

ADVANTAGES:
1. CVS can be carried out earlier in the pregnancy (8-12 weeks)
DISADVANTAGES:
1. risk of miscarriage
2. chance of incorrect result
3. parents may opt for abortion if result is positive

Question 6

What is Non-invasive prenatal diagnosis?

Answer 6

1. genetic analysis is carried out on DNA fragments in the mother’s blood
2. some of this DNA is from the fetus

Question 7

What are the benefits and issues with Non-invasive prenatal diagnosis?

Answer 7

ADVANTAGES:
1. non-invasive so less risk of miscarriage
DISADVANTAGE:
1. parents may opt for abortion if result is positive

Question 8

What is PIGD and how does it work?

Answer 8

PIGD = pre implantation genetic diagnosis
Analysis of genes in embryos created through IVF to check for genetic conditions

Question 9

What are the benefits and issues with PIGD?

Answer 9

ADVANTAGES:
1. non-invasive so less risk of miscarriage
2. prevents the need for abortions at later stages
DISADVANTAGE:
1. expensive and stressful
2. low success rate
3. discarded embryos could be considered potential life