UW + mehl. trisomy tests (quads) 02-14 (1)

Question 1

M.trisomy 13, name?

Answer 1

Patau. rare as fuck

Question 2

M. 13 trisomy. CP? neuro + msk

Answer 2

Holoprosencephaly (cylopia) / failure of halves of brain to separate; polysyndactyly.

Question 3

M. 13 (patau). Quad screen? inhibin?

Answer 3

all arrows down. inhibin normal.

Question 4

M. patau (13) outcome?

Answer 4

Usually fatal in utero or shortly after birth.

Question 5

M. trisomy 18, name?

Answer 5

Edward syndrome

Question 6

M. trisomy 18 (edward). CP?

Answer 6

Low-set ears; prominent occiput; rocker-bottom feet; clenched hands / overlapping fingers; omphalocele or gastroschisis.

Question 7

M. trisomy 18 (edward). Quad?

Answer 7

all arrows down

Question 8

M. trisomy 18 (edward). outcome?

Answer 8

Usually fatal in utero or shortly after birth.

Question 9

M. trisomy 21, name?

Answer 9

Down syndrome

Question 10

M. Down syndrome

• 95% due to extra chromosome 21 as a result of meiotic nondisjunction in advanced maternal age
• 4% due to Robertsonian translocation
• 1% is mosaic Down, which is due to post-fertilization mitotic (not meiotic) error. In this case, not all cells of the conceptus contain the trisomy.

Answer 10

.

Question 11

M. Most common GENETIC cause of mental retardation? what is second?

Answer 11

first - down
second - Fragile x

Question 12

M. Most common cause of mental retardation overall?

Answer 12

fetal alcohol syndrome.

Question 13

M. Down CP? dahuja cia

Answer 13

• Associated with flattened facies; slanted palpebral fissures; epicanthal folds; single palmar crease (this finding non-specific but still often mentioned in Down); large gap
  between the first and second toes; Hirschsprung disease; duodenal atresia (double bubble sign on AXR); endocardial cushion defects (AVSD, VSD, or ASD); pulmonary artery
  malformations; acute lymphoblastic leukemia; congenital hypothyroidism; Eustachian tube atresia; Brushfield spots (iris lesions).

Question 14

M. Down. What 3 findings in first trimester (8-10 w).?

Answer 14

incr. nuhal translucency, incr. hCG
DECREASED PAPP-A!!!!

Question 15

M. Down. what about nose?

Answer 15

a hypoplastic nasal bone is also an
important finding in Downs (reflects flattened facies).

Question 16

M. Down. 2nd trimested quad screen arrows?

Answer 16

Decr. AFP, decr. estriol, incr. hCG, incr. inhibin

the ones that have “Hs” are ­ (i.e., hCG and inhibin A both have Hs, so those are the ones that are ­)

Question 17

UW. When are performed quad tests?

Answer 17

second trimester

Question 18

UW. 21. AFP?

Answer 18

decr.

Question 19

UW. 21. beta-hCG

Answer 19

incr.

Question 20

UW. 21. estriol?

Answer 20

decr.

Question 21

UW. 21. inhibin a?

Answer 21

incr.

Question 22

UW. 18. AFP?

Answer 22

decr.

Question 23

UW. 18. beta-hCG?

Answer 23

decr.

Question 24

UW. 18. estriol?

Answer 24

decr.

Question 25

UW. 18. inhibin?

Answer 25

normal.

Question 26

UW. neural tube or abdominal wall defect. AFP?

Answer 26

increased (the only one)

Question 27

UW. neural tube or abdominal wall defect. beta-HCG?

Answer 27

normal.

Question 28

UW. neural tube or abdominal wall defect. estriol?

Answer 28

normal

Question 29

UW. neural tube or abdominal wall defect. inhibin?

Answer 29

normal.

Question 30

UW. 21.
MSAFP and unconjugated estriol, which are fetal tissue products, are decreased (possibly due to suboptimal fetal tissue function).

Answer 30

.

Question 31

UW. 21.
β-hCG and inhibin A, which are placental secretory products, are increased (possibly due to compensatory placental hyperfunction).

Answer 31

.

Question 32

UW. abominal wall defects leads to incr. AFP. whats about cardiac defects?

Answer 32

fetal cardiac anomalies do not increase AFP levels because AFP is not produced in fetal cardiac tissue.

Question 33

UW case. 29y/o, 18 weeks gestation. all normal. took AFP - significantly increased. Cause?

Answer 33

FETAL ABDOMINAL WALL DEFECT