Class 23: Chromosomal Abnormalities

Question 1

another name for trisomy 13?

Answer 1

patau syndrome

Question 2

what type of screening is used for patau syndrome?

Answer 2

quad screening

Question 3

what does quad screening evaluate?

Answer 3

lab values for AFP, inhibin, estriol, hCG

Question 4

lab values for trisomy 13?

Answer 4

increased inhibin
increased AFP
decreased hCG
decreased PAPP-A

Question 5

prognosis for trisomy 13 is ___ survival rate

Answer 5

poor survival rate

Question 6

another name for trisomy 18?

Answer 6

edward’s syndrome

Question 7

what is the 2nd most common trisomy?

Answer 7

edward’s syndrome

Question 8

trisomy 18 mainly affects male fetuses. T/F?

Answer 8

false – female fetuses are mainly affected by edward’s syndrome

Question 9

lab values for trisomy 18 (hCG, AFP, estriol, PAPP-A, inhibin)

Answer 9

normal inhibin
lower hCG, AFP, estriol, PAPP-A

Question 10

edward’s syndrome is associated with choroid plexus cysts. T/F?

Answer 10

true

Question 11

radial ray anomalies are associated with which trisomy?

Answer 11

trisomy 18

Question 12

strawberry shaped head is associated with which trisomy?

Answer 12

18

Question 13

rocker bottom foot is associated with which trisomy?

Answer 13

13

Question 14

holoprosencephaly is associated with which trisomy?

Answer 14

13

Question 15

what is the most common trisomy?

Answer 15

21

Question 16

which is the most common chromosomal abnormality?

Answer 16

21

Question 17

brush field spots are physical symptoms of which trisomy?

Answer 17

21

Question 18

another name for trisomy 21?

Answer 18

down’s syndrome

Question 19

microtia is a good indication of a fetus having trisomy 18. T/F?

Answer 19

false – trisomy 21