genetic screening

Question 1

purpose of prenatal screening

Answer 1

define the risk of a genetic disease in a low-risk population

Question 2

assess the risk that a child will have a genetic disease

Answer 2

screening test

Question 3

given if a screening test is positive, to assess whether the disease is present or absent

Answer 3

diagnostic test

Question 4

when can nuchal translucency be seen?

Answer 4

10-14 weeks

Question 5

what can be used to detect Down syndrome in 1st trimester

Answer 5

1. hCG
2. PAPP-A
3. nuchal translucency

Question 6

how early can chorionic villus sampling be done?

Answer 6

as early as 10 weeks

Question 7

which method of testing for down syndrome results in best sensitivity?

Answer 7

integrated screening

Question 8

most important initial step in identifying a woman at risk for hereditary cancer

Answer 8

family history

Question 9

BRCA 1/2 is assc’d with which cancers?

Answer 9

1. breast cancer

2. ovarian cancer