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Repro Week 4 > Genetics/Prenatal Screening > Flashcards

Genetics/Prenatal Screening Flashcards

1
Q

define malformation

A

congenital morphologic anomaly of single organ or body part from alteration of primary development of the organ

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2
Q

teratogen exposure at 15-25 days has wha two effects?

A

CNS or cardiac

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3
Q

teratogen exposure at 20-30 days has what effects?

A

axial skeleton, limbs and muscles

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4
Q

teratogen exposure at 25-40 days has what issues?

A

eyes heart and lower limbs

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5
Q

teratogen expposure after 60 days has what implication?

A

inhibited fetal growth

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6
Q

ACE and ARBs cause what in fetus?

A

2/3rd trimester cause oligohydramnios, renal failure and pulmonary hypoplasia

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7
Q

warfarin causes what in fetus?

A

fetal bleeding, malformed bones, ID and microcephaly

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8
Q

lithium in fetus leads to what?

A

ebstein anomaly

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9
Q

what is ebstein anomaly?

A

abnormally large and poorly functional tricuspid valves

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10
Q

what does nicotine cause in fetus?

A

growth restriction

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11
Q

what is classic triad of congenital toxoplasmosis?

A

chorioretinities
hydrocephalus
intracranial calcifications

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12
Q

what is classic triad of congenital rubella?

A

sensorineural deafness
ocular defects (catracts)
cardiac anomalies (PDA)
blueberry muffin

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13
Q

what are common congenital CMV issues?

A 
hearing loss
microcephaly
periventricular calcifications
chorioretinitis
petichiae
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14
Q

what can happen wiht maternal PKU?

A

if phenylalanine builds up it is toxic to developing brain

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15
Q

trisomy 18 is called what?

A

edward syndrome

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16
Q

what happens to babies with edward syndrome?

A

die in a year

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17
Q

what are the classic physical finding of edward syndrome?

A

small head and jaw
low set ears
clenching of hands
rocker bottom feet

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18
Q

what is name of trisomy 13?

A

patau syndrome

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19
Q

what are classic physical findings of patau syndrom?

A

polydactyly
holoprosencephaly
cleft lip/palate

20
Q

what does CVS stand for?

A

chorionic villus smapling

21
Q

what is sampled in CvS?

A

placental biopsy

22
Q

when do you perform a CVS?

A

10-14 weeks

23
Q

what can CVS not test for?

A

NTDs

24
Q

when is amniocentesis performed?

A

15 weeks and beyond

25
Q

what can you test for in amniocentesis?

A

NTDs

26
Q

what is amniocentesis a measurement of?

A

fetal cells in the amniotic fluid

27
Q

what is quad screening?

A

measurement of AFP, hCG, DIA and uE3 at 15-22 weeks gestation

28
Q

what are typical values of AFP, uE3, hCG, and inhibin A in positive down syndrome quad screen?

A

low AFP and uE3

high hCg and inhibin A

29
Q

name some causes of elevated AFP in screening

A 
NTDs, 
anencephaly
abdominal wlal defects
GI defects 
multiple gestations
30
Q

what makes hCG?

A

syncytiotrophoblasts

31
Q

when does hcg peak?

A

at 8 weeks gestation then decreases and plateaus

32
Q

what is most sensitive marker for down syndrome?

A

hCG

33
Q

where is uE3 made?

A

placenta

34
Q

what happens to uE3 levels throughout pregnancy?

A

steadily increase

35
Q

what are levels of AFP, uE3 and hCG in T18

A

all low

36
Q

what are levels of AFP, uE3 and hCg in T13?

A

all low

37
Q

what is AFP level in NTDs?

A

HIGH

38
Q

what is cfDNA screening?

A

cell free screening

39
Q

explain how we think cfDNA screening works

A

cell free fetal DNA circulates in maternal plasma as cells turnover during development so we can use this to sequence the genome and map it

40
Q

when is cfDNA screening able to determine the most?

A

third trimester

41
Q

what can effect the levels of cfDNA in maternal circulation?

A

obesity

42
Q

what do you do to confirm results of cfDNA screening?

A

CVS or amniocentesis

43
Q

what are some ultrasound signs of DS in 2nd trimester?

A

nuchal fold
duodenal atresia
AV canal
absent nasal bone

44
Q

which of T21, 18 and 13 can be well detected by fetal ultrasound?

A

18 and 13 are best

45
Q

what are findings of T18 on ultrasound?

A

growth restirciton
clenched fists
cardiac defects

Repro Week 4 (8 decks)

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