genetic screening Flashcards
1
Q
purpose of prenatal screening
A
define the risk of a genetic disease in a low-risk population
2
Q
assess the risk that a child will have a genetic disease
A
screening test
3
Q
given if a screening test is positive, to assess whether the disease is present or absent
A
diagnostic test
4
Q
when can nuchal translucency be seen?
A
10-14 weeks
5
Q
what can be used to detect Down syndrome in 1st trimester
A
- hCG
- PAPP-A
- nuchal translucency
6
Q
how early can chorionic villus sampling be done?
A
as early as 10 weeks
7
Q
which method of testing for down syndrome results in best sensitivity?
A
integrated screening
8
Q
most important initial step in identifying a woman at risk for hereditary cancer
A
family history
9
Q
BRCA 1/2 is assc’d with which cancers?
A
- breast cancer
2. ovarian cancer
