22 - Preconception Carrier Screening

Question 1

Diagnostic testing

Answer 1

• Type of test used to help diagnose a disease
• E.g. Mammograms
• Performed on symptomatic individuals

Question 2

Screening

Answer 2

• Test for a person’s risk of developing an inherited disease
• Performed on asymptomatic individuals

Question 3

How many lethal mutations do we carry

Answer 3

3-5 lethal mutations

Question 4

Preconception carrier screening

Answer 4

• Identifying carriers of recessive conditions before having an affected child
• Provides at risk couples with family planning options
• Severe child onset diseases

Question 5

Autosomal recessive

Answer 5

• Males and females can be carriers
• 1 in 4 (25%) chance of any child being affected
• E.g. CF

Question 6

X linked recessive

Answer 6

• Females usually carriers
• 1 in 2 (50%) chance of boys being affected
• E.g. DMD

Question 7

Screening programs in Aus

Answer 7

No genetic screening programs in WA

Question 8

What is the percentage of childhood deaths that result from malformation or genetic disorders

Answer 8

34% (51% under age 1)

Question 9

What do patients with genetic diseases want

Answer 9

1. Accurate diagnosis (need to know which gene is mutated)
2. Treatment
3. Avoid passing disease to children

Question 10

Genetic disease treatment problem

Answer 10

Cost

Question 11

Mackenzies mission

Answer 11

$20 million Medical Research Future Fund project

Question 12

Couple based screening high chance

Answer 12

• Both are carriers of the same autosomal recessive condition
• OR the woman is a carrier of an X linked condition

Question 13

Reproductive options for high chance couples

Answer 13

• Pregnant (CVS)
• Non pregnant (preimplantation genetic testing)