genetic screening

Question 1

what does the quad screen contain

Answer 1

b-hCG, inihibinA, estriol, AFP

Question 2

what are the aneuploidies

Answer 2

Down (21), edqwards (18), patau (13)

Question 3

what does the quad screen look like for downs?

Answer 3

HCG (up), Inhibin A (up), estriol and AFP (down)

Question 4

what does the quad screen look like for edwards

Answer 4

All down

Question 5

what is the combined screen and why use it?

Answer 5

1st trimester screen and then a 2nd trimeter screen. this increases sensitivity and reduces risk to the fetus, but reduces the options

Question 6

what is the sequential test and why use it

Answer 6

1st trimester screen then if negative wait until 2nd trimester; if positive go to invasive testing. this opens up more options becuase there is less waiting, but it increasees risk of fetal loss with invasive testing.

Question 7

cell free DNA test

Answer 7

detects ftal DNA in maternal blood. looks for sickle cell disease and cystic fibrosis.

Question 8

what are the rules for testing/screening

Answer 8

only do it if mom wants the invasive test and she is willing to terminate, otherwise there is no point in doing the test.