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DMS 400 OB/GYN > Class 15: NTD > Flashcards

Class 15: NTD Flashcards

1
Q

what are neural tube defects?

A

anomalies of the fetal head, neck, spine

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2
Q

causes of NTD?

A

may result from genetic mutation or be acquired

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3
Q

what is the most common NTD?

A

anencephaly/acrania

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4
Q

what is anencephaly

A

the absence of cerebral hemispheres & overlying skull & scalp – no forebrain

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5
Q

only the midbrain & hindbrain are present with anencephaly. T/F?

A

true

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6
Q

what weeks can anencephaly be seen on US TV?

A

9-10 weeks

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7
Q

what is the most common congenital anomaly of the CNS?

A

anencephaly

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8
Q

which parts of the world is anencephaly more common in?

A

where spina bifida is common (UK)

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9
Q

which part of the population does anencephaly more commonly occur in? male or female?

A

females

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10
Q

in anencephaly, what is the US appearance of the cranial vault & intracranial contents?

A

absent

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11
Q

in anencephaly, what is the US appearance of the eyes?

A

eyes are present, but bulging

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12
Q

US appearance of the neck with a fetus with anecephaly?

A

short neck

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13
Q

oligohydramnios is present in half the cases of anencephaly. T/F?

A

false – polydramnios is present

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14
Q

why is polyhydramnios common with fetuses with anencephaly?

A

due to problems with swallowing amniotic fluid

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15
Q

5 causes of NTD?

A
  1. chromosomal abnormalities
  2. diabetes mellitus
  3. folic acid deficiency
  4. amniotic band syndrome
  5. hyperthermia
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16
Q

what is the most common cause of NTD?

A

chromosomal abnormalities

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17
Q

lab values for NTD?

A

high levels of alpha feto protein

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18
Q

fetuses with anencephaly take on a ___-like appearance

A

frog

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19
Q

any NTD with exposure to ___ can cause degeneration of brain tissue

A

amniotic fluid

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20
Q

what is acrania?

A

the absence of cranial bones but with the presence of abnormal brain tissue

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21
Q

what can acrania lead to?

A

anencephaly if the brain tissue is exposed to amniotic fluid

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22
Q

what is hydranencephaly?

A

the total or near total absence of the cerebral hemispheres; cerebral parenchyma is destroyed & replaced by CSF

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23
Q

hydranencephaly is usually not associated with chromosomal abnormalities. T/F?

A

true

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24
Q

hydranencephaly is usually associated with other structural anomalies. T/F?

A

false

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25
Q

hydranencephaly is a lethal condition. T/F?

A

true

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26
Q

what are 2 causes of hydranencephaly?

A
  1. bilateral obstruction of the ICA leads to tissue necrosis of brain & is replaced by CSF
  2. congenital infection
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27
Q

US appearance of hydranenncephaly?

A
  • no cerebral parenchyma
  • large anechoic areas surrounding midbrain
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28
Q

what is holoprosencephaly?

A

failure of prosencephalon to divide into double lobes of cerebral hemispheres

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29
Q

holoprosencephaly is associated with hypertelorism deformities. T/F?

A

false – hypotelorism

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30
Q

3 types of holoprosencephaly?

A
  1. alobar
  2. semilobar
  3. lobar
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31
Q

what is the most severe type of holoprosencephaly?

A

alobar

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32
Q

what is the mildest type of holoprosencephaly?

A

lobar

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33
Q

what is alobar holoprosencephaly?

A

complete failure of prosencephalon to divide into 2 hemispheres – unable to see IHF

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34
Q

US appearance of alobar holoprosencephaly?

A

absent CSP, monoventricle & fused thalami

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35
Q

what abnormalities are associated with alobar holoprosencephaly?

A

craniofacial abnormalities

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36
Q

what is semilobar holoprosencephaly?

A

partial separation of cerebral tissue

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37
Q

US appearance of semilobar holoprosencephaly?

A

abset CSP, present occipital lobe

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38
Q

what abnormalities are associated with semilobar holoprosencephaly?

A

cleft palate & lip

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39
Q

what is lobar holoprosencephaly?

A

nearly complete separation of cerebral hemispheres

40
Q

US appearance of lobar holoprosencephaly?

A

abset CSP

41
Q

what is cebocephaly?

A

hypotelorism & normally placed nose with 1 nostril

42
Q

what is ethmocephaly?

A

hypotelorism with proboscis superior to eyes

43
Q

how do facial clefts form?

A

due to the failure of lip fusion prior to 35 days from conception

44
Q

other names for dandy walker malformation?

A

dandy walker syndrome, dandy walker cyst, dandy walker variant

45
Q

features of dandy walker malformation?

A
  1. agenesis/incomplete formation of vermis
  2. dilation of 4th ventricle & enlargement of posterior fossa
46
Q

cause of dandy walker malformation?

A

obstruction at lushka & magendie foramen

47
Q

US appearance of dandy walker malformation?

A

cystic dilation of 4th ventricle & subsequent dilation of 3rd & lateral ventricles
cerebellar lobes splayed apart

48
Q

what is a cephalocele?

A

a herniation of meninges with or without brain tissue through a skull defect

49
Q

what is an encephalocele?

A

a herniation of meninges, CSF, and brain tissue

50
Q

most common location for a cephalocele to occur?

A

occipital region

51
Q

hydrocephalus is present in ___ of cases with cephalocele

A

80%

52
Q

spina bifida is present in ___ of cases with cephalocele

A

7-15%

53
Q

cephalocele is associated with polyhydramnios. T/F?

A

true

54
Q

US appearance of encephalocele?

A

heterogenous – has meninges & brain tissue present

55
Q

what is hydrocephalus?

A

an abnormal increase in fluid in cerebral ventricles

56
Q

what is another name for hydrocephalus?

A

ventriculomegaly

57
Q

effects for ventriculomegaly?

A
  • flattening of the brain parenchyma
  • intraparenchymal effusion
58
Q

3 classifications of hydrocephalus?

A
  1. aqueductal stenosis/noncommunicating hydrocephalus
  2. communicating hydrocephalus
  3. overproduction of CSF
59
Q

what can cause overproduction of CSF?

A

choroid plexus papilloma – can cause choroid plexus to make more CSF

60
Q

measurement of cisterna magna with dandy walker malformation?

A

> 10 mm/1cm

61
Q

what is another name for noncommunicating hydrocephalus?

A

aqueductal stenosis

62
Q

what is aqueductal stenosis?

A

obstruction INSIDE ventricular system – there is no communication between ventricular system & subarachnoid space

63
Q

what is communicating hydrocephalus?

A

obstruction OUTSIDE ventricular system (ex subarachnoid space)

64
Q

US appearance of choroid plexus with ventriculomegaly?

A

hanging/dangling choroid plexus

65
Q

US appearance of ventricles with hydrocephalus?

A

dilated ventricles (ventriculomegaly)

66
Q

measurement of lateral ventricles with ventriculomegaly?

A

> 10 mm/1cm

67
Q

US appearance of fetal head with hydrocephalus?

A

enlargement of head leads to overestimation of GA

68
Q

what is arnold chiari malformation?

A

a common type of hydrocephalus where the cerebellum is pulled through the CM

69
Q

where does the spinal cord normally start & end?

A

starts at the foramen magnum & ends at L2

70
Q

with arnold chiari malformation, where does the spinal cord start & end?

A

pushed down on foramen magnum & starts at CM; ends below L2

71
Q

what 2 conditions is arnold chiari malformation associated with?

A

spina bifida
hydrocephalus

72
Q

US appearance of arnold chiari malformation?

A
  • fruit bowl sign – cerebellum = banana shape; narrow frontal bone = lemon sign
  • dilated lateral ventricles = severe bat wing sign
  • dilated 3rd ventricle
  • no CSP
73
Q

microcephaly means that the head circumference of the fetus is ___ standard deviations below the mean

A

2

74
Q

3 causes of microcephaly?

A
  1. trisomies (13, 18, 21)
  2. environmental teratogens
  3. uterine infections
75
Q

effects of microcephaly?

A

mental retardation

76
Q

choroid plexus cysts may be transient & ___ by the end of the ___ trimester

A

resolve; 2nd

77
Q

when may choroid plexus cysts be associated with trisomy 18?

A

5% are associated with edward’s syndrome if unresolved by the 2nd half of pregnancy

78
Q

choroid plexus cysts are an increased risk of abnormal karyotype if they are ___ that measure ___

A

bilateral; > 10 mm

79
Q

is cystic hygroma benign or malignant?

A

benign

80
Q

what is cystic hygroma?

A

a lymphatic obstruction/malformation that leads to fluid filled sacs

81
Q

most common location for cystic hygroma?

A

80% of the time they are found in the posterolateral portion of the neck

82
Q

what condition is associated with cystic hygroma?

A

turner’s syndrome

83
Q

what is turner’s syndrome?

A

a chromosomal abnormality in which female only has 45X instead of 46XX

84
Q

the following are characteristics of what condition?
- infantile sexuality
- pterigium colli
- elbow malformation
- low birth weight
- short stature
- edema on hands & feet
- loose skin folds on neck
- prominent ears

A

turner’s syndrome

85
Q

US appearance of cystic hygroma?

A

uni/multilocular cystic mass

86
Q

what is the 2nd most common NTD?

A

spina bifida

87
Q

what is spina bifida?

A

a spinal defect in which the vertebral arches don’t fuse properly

88
Q

most common location of spina bifida?

A

lumbar sacral

89
Q

2nd most common location of spina bifida?

A

cervical

90
Q

3 types of spina bifida?

A
  1. meningocele
  2. meningomyelocele
  3. occult spina bifida
91
Q

what is meningocele?

A

spina bifida type in which only meninges protrude

92
Q

what is meningomyelocele?

A

spina bifida type in which meninges & spinal cord protrude

93
Q

what is occult spina bifida?

A

a small defect without protrusion

94
Q

which type of spina bifida has poor prognosis?

A

meningomyelocele

95
Q

what 4 conditions are associated with spina bifida?

A
  1. arnold chiari
  2. bladder, bowel dysfunction
  3. lower extremities paralysis
  4. hydrocephalus

DMS 400 OB/GYN (21 decks)

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