Genetics Lecture

Question 1

what is reasons for referral to genetics

Answer 1

family hisotry of genetic condition
genetic counselling
genetic diagnosis

Question 2

what do people need to know

Answer 2

what the test is for
how likely it is to be positive
what happens if its positive 
what if its negative
what if its false negative/positive 
implications for other family members

Question 3

what types of pregnancy screening is there

Answer 3

targeted

whole population

Question 4

what types of testing are there

Answer 4

chorionic villi sampling
amniocentesis
preimplantation genetic diagnosis
noninvasive prenatal-blood taken

Question 5

what does x linked recessuve mean

Answer 5

daughter of men are carriers

boys are usually affects

Question 6

what does autosomal dominant mean

Answer 6

each child has 50% chance

no skipped generation

Question 7

what screening is used for down syndrome

Answer 7

tripple screening
CUBS screening
combined USS and biochemical-nuchal

Question 8

explain CF genetics

Answer 8

autosomal recessive
defect in cellular chlordie transport
pancreatic insufficiency

Question 9

explain sickle cell

Answer 9

abrnomla haemoglobin gene
pain
cold
dehydration
jaundice

Question 10

what is done in new born screening

Answer 10

clinical exmaination
hearing test
blood spot

Question 11

name a few things babies are screened for

Answer 11

SCD
CF
maple syrup urine

Question 12

explain congential hypothyroidism

Answer 12

not enough thyroxine
early treatment wit tablets
treatment started 21 days of age