Genetic Testing

Question 1

What does aneuploid mean?

Answer 1

too many or too few chromosomes

pg. E 75

Question 2

What does trisomy mean?

Answer 2

presence of an extra chromosome

pg. E 75

Question 3

What does triploidy mean?

Answer 3

extra set of chromosomes

pg. E 75

Question 4

When is a nuchal translucency measured?

Answer 4

11. 5 - 13.5 weeks

pg. E 76

Question 5

What is considered an abnormal nuchal translucency measurement?

Answer 5

> 3 mm

pg. E 76

Question 6

A NT measurement is measured from ___.

Answer 6

inner to inner

pg. E 76

Question 7

If a fetus has a thickened NT, what can that indicate?

Answer 7

Trisomy 18
Trisomy 21
cardiac abnormalities
pg. E 77

Question 8

What blood tests are taken in the 1st trimester?

Answer 8

PAPP-A
beta hCG
pg. E 76

Question 9

What can a high beta hCG indicate?

Answer 9

trophoblastic disease

pg. E 77

Question 10

What can low beta hCG and PAPP-A levels indicate?

Answer 10

poor implantation or placentation
Trisomy 21
pg. E 77

Question 11

When and why is chorionic villus sampling performed?

Answer 11

between 9-12 weeks after a thickened NT or abnormal blood tests are indicated
pg. E 77

Question 12

What screenings are done in the 2nd trimester?

Answer 12

Quad screen
Amniocentesis
pg. E 78

Question 13

What is included in a Quad screen?

Answer 13

MSAFP
hCG
unconjugated estriol (uE3)
Inhibin-A
pg. E 78

Question 14

When is a quad screen performed?

Answer 14

15-18 weeks

Question 15

What does an elevated MSAFP indicate?

Answer 15

incorrect dates
multiple gestation
neural tube defects
abdominal wall defects
pg. E 78

Question 16

What does a decreased MSAFP indicate?

Answer 16

incorrect dates
chromosomal abnormalities
fetal demise
pg. E 79

Question 17

What would a low uE3 indicate?

Answer 17

Trisomy 21

pg. E 79

Question 18

What does an elevated inhibin-A indicate?

Answer 18

Trisomy 21

pg. E 79

Question 19

When is an amniocentesis performed?

Answer 19

16 weeks

pg. E 80

Question 20

What would low amniocentesis lab values indicate?

Answer 20

neural tube defects

pg. E 80

Question 21

When is a nuchal fold measured?

Answer 21

15-21 weeks

pg. E 142

Question 22

What is a normal measurement for nuchal fold?

Answer 22

< 6 mm

pg. E 142

Question 23

What is an abnormal nuchal fold associated with?

Answer 23

Trisomy 21

pg. E 142

Question 24

How can you check for fetal anemia?

Answer 24

Middle cerebral artery Doppler

Google

Question 25

How long do PUBS results take to get back?

Answer 25

48 hours

Question 26

How long do CVS results take to get back?

Answer 26

1 week

Question 27

How long do amniocentesis results take to get back?

Answer 27

2 weeks

Question 28

What might cause CA 125 to be elevated?

Answer 28

Ovarian carcinoma
Endometrial carcinoma 
Endometriosis
PID
Fibroids
URR Exam

Question 29

Fetal lung maturity can be detected in an amniocentesis through which lab value?

Answer 29

Phosphatidyl-glycerol