Genetic disorder and the Quality of Life argument

Question 1

What causes Down’s syndrome?

Answer 1

The presence of an extra copy of chromosome 21

Question 2

What is Down’s syndrome the result of?

Answer 2

A one- off genetic change in the sperm or the egg

Question 3

What is the likelihood of Down’s in a pregnancy?

Answer 3

Small chance with every pregnancy
Likelihood increases with age:
- aged 20 = 1 in 1500
- aged 40 = 1 in 100

Question 4

How many babies are born each year with Down’s syndrome?

Answer 4

775

Question 5

What screening is there for Down’s syndrome?

Answer 5

10-14 weeks = probability based on rate of growth and hormone levels - combined test
14-20 weeks = quadruple test
If screening shows you have a high risk you will be offered further diagnostic tests:
- Chronic Villus Sampling
- Amniocentesis
- Non - invasive prenatal diagnosis

Question 6

How many women choose to abort after a positive diagnosis?

Answer 6

9/10 British women

100% of women in Iceland

Question 7

What is the impact of Down’s syndrome on quality of life?

Answer 7

Every child will have a learning disability.
With help 80% can learn to read.
From 1981 there was access to mainstream schooling.
With support many people can get jobs and live fairly independently.
Many of the common health problems can be treated.
With good healthcare, someone with Down’s can live to around 60.

Question 8

What is Edwards’ syndrome?

Answer 8

A serious genetic condition caused by an additional copy of chromosome 18 in some or all cells.

Question 9

What cause Edwards’ syndrome?

Answer 9

An error in the division of cells

Question 10

How many babies does Edwards’ syndrome affect?

Answer 10

1 in 3000-6000 live births.

Question 11

Of those who have Edwards’ syndrome and survive to birth…

Answer 11

1/2 will die in 2 weeks
1/5 will live at least 3 months
1/12 will live beyond one year

Question 12

What happens to the foetus with Edwards’ syndrome?

Answer 12

Disrupts development - causes miscarriage or stillbirth

Question 13

What screening is there available for Edwards’ syndrome?

Answer 13

10-14 weeks = assess probability with combined test
18-21 weeks = a scan that looks for physical abnormalities
High risk = diagnostic tests:
- Chronic Villus sampling
- Amniocentesis
- Non-invasive prenatal diagnosis

Question 14

What impact does Edwards’ syndrome have on quality of life?

Answer 14

Cannot walk
Severely mentally disabled
Feeding problems
Characteristics are very difficult to manage
In some cases care is only viable in specialist hospitals or hospices.