Class 15: NTD Flashcards

(95 cards)

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
hydranencephaly is a lethal condition. T/F?
true
26
what are 2 causes of hydranencephaly?
1. bilateral obstruction of the ICA leads to tissue necrosis of brain & is replaced by CSF 2. congenital infection
27
US appearance of hydranenncephaly?
- no cerebral parenchyma - large anechoic areas surrounding midbrain
28
what is holoprosencephaly?
failure of prosencephalon to divide into double lobes of cerebral hemispheres
29
holoprosencephaly is associated with hypertelorism deformities. T/F?
false -- hypotelorism
30
3 types of holoprosencephaly?
1. alobar 2. semilobar 3. lobar
31
what is the most severe type of holoprosencephaly?
alobar
32
what is the mildest type of holoprosencephaly?
lobar
33
what is alobar holoprosencephaly?
complete failure of prosencephalon to divide into 2 hemispheres -- unable to see IHF
34
US appearance of alobar holoprosencephaly?
absent CSP, monoventricle & fused thalami
35
what abnormalities are associated with alobar holoprosencephaly?
craniofacial abnormalities
36
what is semilobar holoprosencephaly?
partial separation of cerebral tissue
37
US appearance of semilobar holoprosencephaly?
abset CSP, present occipital lobe
38
what abnormalities are associated with semilobar holoprosencephaly?
cleft palate & lip
39
what is lobar holoprosencephaly?
nearly complete separation of cerebral hemispheres
40
US appearance of lobar holoprosencephaly?
abset CSP
41
what is cebocephaly?
hypotelorism & normally placed nose with 1 nostril
42
what is ethmocephaly?
hypotelorism with proboscis superior to eyes
43
how do facial clefts form?
due to the failure of lip fusion prior to 35 days from conception
44
other names for dandy walker malformation?
dandy walker syndrome, dandy walker cyst, dandy walker variant
45
features of dandy walker malformation?
1. agenesis/incomplete formation of vermis 2. dilation of 4th ventricle & enlargement of posterior fossa
46
cause of dandy walker malformation?
obstruction at lushka & magendie foramen
47
US appearance of dandy walker malformation?
cystic dilation of 4th ventricle & subsequent dilation of 3rd & lateral ventricles cerebellar lobes splayed apart
48
what is a cephalocele?
a herniation of meninges with or without brain tissue through a skull defect
49
what is an encephalocele?
a herniation of meninges, CSF, and brain tissue
50
most common location for a cephalocele to occur?
occipital region
51
hydrocephalus is present in ___ of cases with cephalocele
80%
52
spina bifida is present in ___ of cases with cephalocele
7-15%
53
cephalocele is associated with polyhydramnios. T/F?
true
54
US appearance of encephalocele?
heterogenous -- has meninges & brain tissue present
55
what is hydrocephalus?
an abnormal increase in fluid in cerebral ventricles
56
what is another name for hydrocephalus?
ventriculomegaly
57
effects for ventriculomegaly?
- flattening of the brain parenchyma - intraparenchymal effusion
58
3 classifications of hydrocephalus?
1. aqueductal stenosis/noncommunicating hydrocephalus 2. communicating hydrocephalus 3. overproduction of CSF
59
what can cause overproduction of CSF?
choroid plexus papilloma -- can cause choroid plexus to make more CSF
60
measurement of cisterna magna with dandy walker malformation?
> 10 mm/1cm
61
what is another name for noncommunicating hydrocephalus?
aqueductal stenosis
62
what is aqueductal stenosis?
obstruction INSIDE ventricular system -- there is no communication between ventricular system & subarachnoid space
63
what is communicating hydrocephalus?
obstruction OUTSIDE ventricular system (ex subarachnoid space)
64
US appearance of choroid plexus with ventriculomegaly?
hanging/dangling choroid plexus
65
US appearance of ventricles with hydrocephalus?
dilated ventricles (ventriculomegaly)
66
measurement of lateral ventricles with ventriculomegaly?
> 10 mm/1cm
67
US appearance of fetal head with hydrocephalus?
enlargement of head leads to overestimation of GA
68
what is arnold chiari malformation?
a common type of hydrocephalus where the cerebellum is pulled through the CM
69
where does the spinal cord normally start & end?
starts at the foramen magnum & ends at L2
70
with arnold chiari malformation, where does the spinal cord start & end?
pushed down on foramen magnum & starts at CM; ends below L2
71
what 2 conditions is arnold chiari malformation associated with?
spina bifida hydrocephalus
72
US appearance of arnold chiari malformation?
- fruit bowl sign -- cerebellum = banana shape; narrow frontal bone = lemon sign - dilated lateral ventricles = severe bat wing sign - dilated 3rd ventricle - no CSP
73
microcephaly means that the head circumference of the fetus is ___ standard deviations below the mean
2
74
3 causes of microcephaly?
1. trisomies (13, 18, 21) 2. environmental teratogens 3. uterine infections
75
effects of microcephaly?
mental retardation
76
choroid plexus cysts may be transient & ___ by the end of the ___ trimester
resolve; 2nd
77
when may choroid plexus cysts be associated with trisomy 18?
5% are associated with edward's syndrome if unresolved by the 2nd half of pregnancy
78
choroid plexus cysts are an increased risk of abnormal karyotype if they are ___ that measure ___
bilateral; > 10 mm
79
is cystic hygroma benign or malignant?
benign
80
what is cystic hygroma?
a lymphatic obstruction/malformation that leads to fluid filled sacs
81
most common location for cystic hygroma?
80% of the time they are found in the posterolateral portion of the neck
82
what condition is associated with cystic hygroma?
turner's syndrome
83
what is turner's syndrome?
a chromosomal abnormality in which female only has 45X instead of 46XX
84
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
turner's syndrome
85
US appearance of cystic hygroma?
uni/multilocular cystic mass
86
what is the 2nd most common NTD?
spina bifida
87
what is spina bifida?
a spinal defect in which the vertebral arches don't fuse properly
88
most common location of spina bifida?
lumbar sacral
89
2nd most common location of spina bifida?
cervical
90
3 types of spina bifida?
1. meningocele 2. meningomyelocele 3. occult spina bifida
91
what is meningocele?
spina bifida type in which only meninges protrude
92
what is meningomyelocele?
spina bifida type in which meninges & spinal cord protrude
93
what is occult spina bifida?
a small defect without protrusion
94
which type of spina bifida has poor prognosis?
meningomyelocele
95
what 4 conditions are associated with spina bifida?
1. arnold chiari 2. bladder, bowel dysfunction 3. lower extremities paralysis 4. hydrocephalus