Genetics of the Reproductive System

Question 1

Reasons for referral to genetics

Answer 1

Family history genetic condition in relatives
Diagnosis of genetic conditions
Management of genetic conditions
Genetic counselling

Question 2

What do people need to know before undergoing a genetic test?

Answer 2

Implications for other family members of positive results
DNA stored
What test is for / what’s the point in having it done?
How likely is it to be positive
What happens if its positive
What if its negative
What if false positive / false negative

Question 3

Types of pregnancy testing/screening

Answer 3

Targeted

Whole population

Question 4

What is Duchenne’s muscular dystrophy?

Answer 4

X linked 
Fatal in early adult life
Carrier testing
Prenatal diagnosis
Pre-implantation diagnosis

Question 5

Screening for Down syndrome

Answer 5

Maternal age
Triple screening
CUB screening
Selection for amniocentesis

Question 6

What is CUB screening?

Answer 6

Combined Ultrasound and Biochemical screening

Question 7

Common recessive disorders that raise screening issues

Answer 7

N. Europe cystic fibrosis
Africans sickle cell diseases
Tay-Sachs disease
Breast/ovarian cancer BRCA1

Question 8

Newborn screening

Answer 8

Clinical examination
Hearing
Blood spot