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ABGC2 > Prenatal (1) > Flashcards

Prenatal (1) Flashcards

1
Q

What is the background risk for neural tube defects?

A

1/1000

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2
Q

What are the 3 most common neural tube defects?

A

spina bifida
anencephaly
encephalocele

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3
Q

How much folate should women take to reduce risk of neural tube defects?

A

400 micrograms daily

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4
Q

Name 2 heart defects detected on ultrasound that are associated with T21

A

AVSD

VSD

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5
Q

Name 1 heart defect detected on ultrasound that is associated with Turner syndrome

A

coarctation of the aorta

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6
Q

Name 1 heart defect detected on ultrasound that is associated with 22q11.2 deletion

A

tetralogy of Fallot

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7
Q

What percentage of fetuses with T21 have an absent / short nasal bone on ultrasound?

A

60%

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8
Q

What are the main things to think about with an absent / short nasal bone? (5)

A 
often normal variation
T21
T18
T13
Turner syndrome
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9
Q

What is the incidence of nonsyndromic cleft lip and/or palate? What ethnic groups have a higher incidence?

A

1/1000 live births

more common in Native Americans and Asians

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10
Q

What is the percentage break down of isolated vs. syndrome cleft lip and/or palate?

A

60% isolated

40% syndromic

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11
Q

What are the most common syndromes associated with cleft lip and/or palate? (5)

A

more common: T18, T13

other: T21, 4p-, 22q11.2 deletion

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12
Q

What is the incidence of clubfoot?

A

1/1000 live births

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13
Q

What can cause clubfoot? (4)

A
  • multifactorial inheritance
  • intrauterine environment
  • T18
  • smoking (20-fold increase in risk)
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14
Q

What is the recurrence risk of clubfoot if a parent was affected?

A

20%

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15
Q

What is the recurrence risk of clubfoot if a non-parent first-degree relative was affected?

A

4%

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16
Q

What is the incidence of increased NT / cystic hygroma?

A

1/500 pregnancies

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17
Q

What conditions are most commonly associated with increased NT / cystic hygroma? (7)

A 
T21
Turner
Noonan
22q11.2
T18
T13
cardiac defects
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18
Q

What factors other than genetic conditions can be associated with increased NT / cystic hygroma? (2)

A

virus

alcohol

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19
Q

If increased NT / cystic hygroma is seen in the first trimester, what is it more likely to be due to?
In the second trimester?

A

1st: autosomal aneuploidy
2nd: Turner

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20
Q

What is the incidence of choroid plexus cyst (CPC)?

A

1/100 normal fetuses

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21
Q

What is the natural progression of a choroid plexus cyst (CPC)?

A

usually resolves by 26 weeks without problems

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22
Q

What conditions is choroid plexus cyst (CPC) most commonly associated with? (2)

A

T18

other chromosome abnormalities

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23
Q

What is the incidence of echogenic bowel?

A

1/100 - 1/200 fetuses

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24
Q

What is the natural progression of echogenic bowel?

A

usually not associated with anything major and resolves without problems

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25
Q

What genetic conditions can echogenic bowel be associated with? (2)

A

T21

CF

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26
Q

Other than genetic conditions, what can echogenic bowel be associated with? (4)

A

viral infection
GI malformations
IUGR
intra-amniotic bleeding

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27
Q

Name 6 genetic syndromes associated with NTDs:

A
  • Meckel-Gruber
  • Roberts
  • Jarcho-Levin
  • HARD
  • T13
  • T18
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28
Q

What percentage of twins are monochorionic vs. dichorionic?

A

30% mono

70% di

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29
Q

What U/S finding has a very high association with spina bifida?

A

lemon sign

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30
Q

What recommendation should you make to a woman who has had a previous pregnancy with a NTD?

A

10x the dosage of folic acid

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31
Q

What do gravida and para stand for?

A 
gravida = number of pregnancies
para = number of pregnancies carried to full term
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32
Q

What percentage of T21 is detected on ultrasound?

A

50%

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33
Q

What percentage of T18 is detected on ultrasound?

A

75%

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34
Q

What percentage of T13 is detected on ultrasound?

A

75%

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35
Q

What percentage of spina bifida is detected on ultrasound?

A

80%

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36
Q

What percentage of anencephaly is detected on ultrasound?

A

100%

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37
Q

Name 5 US findings indicative of T21:

A
  • increased NT
  • heart defect
  • echogenic bowel
  • short leg bones
  • ventriculomegaly
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38
Q

Name 6 features T18 and T13 have in common

A
  • severe MR
  • short life span
  • clenched fists
  • rocker-bottom feet
  • cardiac problems
  • renal problems
39
Q

Name 2 features T18 presents with which are not common in T13

A
  • neurological findings

- micropthalmia

40
Q

Name 1 feature T13 presents with which is less common with T18

A

postaxial polydactyly

41
Q

Is cyclopia more likely to be indicative of T18 or T13?

A

T13

42
Q

Is a CPC on ultrasound more likely to be associated with T18 or T13?

A

T18

43
Q

What percentage of couples identify a previously unrecognized genetic or teratogenic risk when they undergo prenatal genetic counseling?

A

10%

44
Q

Most cases of which mosaic trisomy identified on CVS are confined placental mosaicism?

A

trisomy 16

45
Q

Do diabetics have a higher or lower risk of having a baby with an NTD than the general population?

A

higher

46
Q

What is the phenotype of a mosaic 45,X / 46,XY person?

A

95% are normal males

47
Q

What is the phenotype of a trisomy 20 mosaic person?

A

usually phenotypically normal

48
Q

What risk does maternal valproic acid exposure in the first trimester confer for NTDs?

A

1%

49
Q

Maternal fever slightly increases risk for what?

A

NTDs

50
Q

What is the usual cutoff risk for T21 which gives a positive prenatal screening result?

A

1/270

51
Q

What are the first two things you should do upon receiving a prenatal screen positive result?

A
  • confirm gestational age

- make sure blood was drawn within correct time window

52
Q

What is Reprotox?

A

a website about meds during pregnancy

53
Q

What is Mother to Baby?

A

a website about meds during pregnancy

54
Q

What day to you start counting gestational age for prenatal screening?

A

the first day of the LMP

55
Q

What is the time window for the first trimester blood draw and ultrasound?

A

11 - 14 weeks

56
Q

What is the time window for a CVS?

A

10 - 14 weeks

57
Q

What is the time window for the second trimester blood draw?

A

15 - 20 weeks

58
Q

What is the time window for an amniocentesis?

A

16 - 22 weeks

59
Q

What is the time window for the level II ultrasound?

A

~18 weeks

60
Q

What analytes are measured in the first trimester?

A

PAPP-A

hCG

61
Q

What analytes are measured in the second trimester?

A

hCG
uE3
INH
AFP

62
Q

What produces PAPP-A?

A

the trophoblast (placenta)

63
Q

What produces hCG?

A

the placenta

64
Q

What produces uE3?

A

fetus & placenta

65
Q

What produces INH?

A

the placenta

66
Q

What produces AFP?

A

the fetus (yolk sac)

67
Q

Which analyte(s) is/are produced by the fetus?

A
  • uE3

- AFP

68
Q

Which analyte(s) is/are produced by the placenta?

A
  • PAPP-A
  • hCG
  • uE3
  • INH
69
Q

What pattern gives a high risk for T21?

A
  • high “H”s and high NT

- low everything else

70
Q

What pattern gives a high risk for T18?

A
  • high NT

- low all analytes

71
Q

Which analyte is only used to assess T21 risk and nothing else?

A

INH

72
Q

What pattern gives a high risk for NTDs?

A
  • high AFP

- nothing else matters

73
Q

What pattern gives a high risk for SCD (SLOS, congenital abnormalities, fetal demise)?

A
  • low hCG, uE3, AFP

- nothing else matters

74
Q

If analytes are abnormal (very high or very low), what 4 perinatal complication risks exist?

A
  • growth restriction
  • preterm delivery
  • pre-eclampsia
  • fetal demise
75
Q

What is the pattern of PAPP-A over time?

A

starts at week 8 and rises throughout pregnancy

76
Q

What is the pattern of hCG over time?

A

rises early, then declines from week 10 onward

77
Q

What is the pattern of uE3 over time?

A

rises throughout pregnancy

78
Q

What is the pattern of INH over time?

A

remains constant throughout pregnancy

79
Q

What is the pattern of AFP over time?

A

rises until week 30-32, then declines

80
Q

Which analyte(s) stay(s) constant throughout pregnancy?

A

INH

81
Q

Which analyte(s) rise(s) throughout weeks 10 - 20 of pregnancy?

A
  • PAPP-A
  • uE3
  • AFP
82
Q

Which analyte(s) decline(s) throughout weeks 10 - 20 of pregnancy?

A

hCG

83
Q

What NT measurement is normal?

A

under 3mm

84
Q

Which analyte is lower in smokers?

A

uE3

85
Q

Which analyte is lower in diabetics?

A

AFP

86
Q

Which analyte is lower in overweight people?

A

AFP

87
Q

Which analyte is higher in blacks?

A

AFP

88
Q

Which approach of CVS can be done after 13 weeks?

A

transabdominal

89
Q

What percentage of CVS results reveal mosaicism?

A

1-2%

90
Q

What percentage of CVS mosaic results are found to be confined placental mosaicism?

A

80%

91
Q

What is the miscarriage risk for invasive prenatal testing?

A

1/500 - 1/1000

92
Q

What are three potential failures of PGD?

A
  • failure of PCR
  • allele dropout
  • sperm contamination
93
Q

Are high or low levels of INH associated with pregnancy complications?

A

high only

ABGC2 (12 decks)

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