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Fetal Abnormalities Flashcards

(128 cards)

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1
Q

Acrania

A
  • abnormal migration of mesenchymal tissue
  • skull and brain is absent
  • elevated alpha feta protein
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2
Q

Acrania coexists with

A
  • spinal defects
  • clubfoot
  • cleft lip and palate
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3
Q

Acrania sono findings

A
  • lack of hyper bony calvaria
  • brain tissue development
    0 prominent sulcal markings
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4
Q

agenesis of corpus callosum

A
  • failure of callosal fibers to form a normal connection
  • may be partial or complete
  • associated with multiple anomalies
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5
Q

agenesis of corpus callosum sono findings

A
  • dilation of third ventricle
  • outward angling of the frontal and lateral horns
  • dilation of occipital horn
  • absent cavum septum pellucidi
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6
Q

arachnoid cyst

A
  • congenital abnormality of the pia-arachnoid layer

- a result of trauma, infarction, or infection

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7
Q

Arachnoid cyst sono findings

A
  • splaying of cerebellum hemisphere

- normal vermis

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8
Q

Arnold Chiari Type II Malformation

A

displacement of the cerebellar vermis, fourth ventricle, medulla oblongata through foramen magna into the upper cervical canal

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9
Q

Arnold Chiari Type II Malformation sono findings

A
  • compressed shape to the cerebellum (banana shape)
  • obliteration of cisterna magna
  • lemon shaped cranium
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10
Q

Dandy-walker syndrome

A
  • congenital malformation of the cerebellum with assoc maldevelopment of 4th ventricle
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11
Q

Dandy-walker syndrome sono findings

A
  • enlarged posterior fossa
  • splaying of cerebellar hemispheres
  • complete or partial agenesis of vermis
  • cisterna magna > 1cm
  • ventriculomegaly
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12
Q

hydranencephaly

A
  • destruction of cerebral cortex resulting from vascular compromise or congenital infection
  • brain tissue is replaced by cerebrospinal fluid
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13
Q

hydraencephaly sono findings

A
  • anechoic brain tissue
  • not assoc with other abnormalities
  • presence of falx cerebri
  • brain stem spared
  • choroid plexus may be displayed
  • variable presence of third ventricle
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14
Q

hydrocephalus (ventriculomegaly)

A
  • increase in ventricular volume caused by outflow obstruction. decrease in cerebrospinal fluid production or overprotection of CSP
  • occipital horm dilates first
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15
Q

hydrocephalus (ventriculomegaly) sono findings

A
  • ventriculomegaly is symmetrical
  • mild enlargement
    • lateral ventricle measureing 10-15 mm
  • severe enlargement
    • lateral measuring > 15 mm
    • dangling of choroid plexus
    • echogenic rim of solid brain tissue
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16
Q

holoprosencephaly

A
  • group of diorders arising from abnormal development of the forebrain
  • assoc w/ tris 13
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17
Q

alobar holoprosencephaly

A
  • monoventricular cavity

- most severe form

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18
Q

alobar holoprosencephaly sono findings

A
  • large central single ventricle
  • fused thalami
  • absence of csp, falx, corpus callosum, and 3rd ventricle
  • normal cerebellum
  • hypotelerism, cyclopia, and proboscis
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19
Q

semilobar holoprosencephaly

A
  • monoventricular cavity

- milder form

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20
Q

semilobar holoprosencephaly sono findings

A
  • large central single ventricle
  • occipital and temporal horns may be present
  • variable development of falx
  • assoc with cleft lip and palate
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21
Q

lobar holoprosencephaly

A
  • 2 large lateral ventricles

- mildest form

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22
Q

lobar holoprosencephaly sono findings

A
  • 2 large lateral ventricles

- absent csp and cavum callosum

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23
Q

lemon shape

A
  • may be a normal findings

- assoc with spina bifida

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24
Q

lemon shape sono findings

A

bilateral indentation of frontal bone

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25
Microcephaly
- overall reduction in brain size - chromosomal aberration - intrauterine infection - difficult to detect before 24 w
26
microcephaly sono findings
- small bpd and hc - decrease hc/ ac ratio - sloping forehead
27
prosencephaly
result of infarction or hemorrhage of brain
28
prosencephaly sono findings
- anechoic mass w/in an area of brain tissue | - midline brain shift
29
strawberry shape
assoc with tris 18
30
strawberry shape sono findings
flattened occiput dia and narrowing of the frontal portion of the skill
31
anecephaly
- failure of cephalic end of the neural tube to close completely - portions of midbrain and brain stem may be present - most common neural tube defect - elevated AFP levels
32
anecephaly is assoc with
malformation of the spine, face, feet, and abd wall
33
anencephaly sono findings
- absence of cranial vault - bulging eyes - brain tissue herniating from defect - macroglossia - poly - increase in fetal activity
34
caudal regression
- structural abnoramlity of caudal end of the neural tube | - more common in patients with diabetes
35
caudal regression is assoc with
genitourinary, gastrointestinal and cardiovascular abnormalities
36
caudal regression sono findings
- absent sacrum - fused pelvis - short femurs
37
encephalocele
- normal afp - presence of brain in cranial protusion - more commonly arise in occipital region
38
encephalocele sono findings
- spherical fluid filled or brain filled sac extending from calvaria - bony calvarial defect
39
spina bifida
failure of neural tube to close completely
40
spina bifida occulta
- defect is covered by normal soft tissue - normal afp level - rarely diagnosed with ultrasound
41
spina bifida aperta
- defect is uncovered - elevated afp levels - assoc with cleft lip and palate, cardiac defects, encephalocele, gi anomalies, and clubfoot
42
Anophthalmia
- lack of fusion of the maxillary prominences with the nasal prominence on one or both sides - failure of optic vesicle to form
43
anophthalmia sono findings
absence of globe or often the orbit
44
Cyclopia
- midline fusion of the orbits | - assoc with holoprosencephaly, tris 13, microcephaly, williams syndrome
45
cyclopia sono findings
single midline orbit
46
facial cleft
- defect in upper lip | - most common facial abnormality
47
facial cleft sono findings
- anechoic defect between the upper lip and nostrils - poly - small stomach
48
hypotelorism
orbits placed closer together than expected
49
hypotelorism sono findings
abnormal small interocular distance for gestational age
50
hypertolerism
- orbits placed wider apart than expected | - assoc with tris 18, noonan syndrome, medial cleft syndrome, craniosynostosis and anterior cepohalocele
51
hypertolerism sono findings
abmormally wide interocular distance for gestational age
52
macroglossia
- assoc with beckwith wiedemann and downs | - persistent protrusion of the tongue
53
macroglossa sono findings
- persistent protrusion of the fetal tongue | - poly
54
micrognathia
- hypoplastic mandible | - assoc with tris 18
55
micrognathia sono findings
- small receding chin and lower lip - poly - protrusion of upper lip
56
Cystic hygroma
- developmental defect fo the lymphatic system | - assoc with chromosomal abnormalities, fetal hydrops, and fetal heart failure
57
Cystic hygroma sono findings
- multilocular anechoic cervical mass - thin surrounding membrane - no cranial defect - continuous with abnormal skin and subcutaneous tissue
58
nuchal edema
- thickening of nuchal fold | - assoc with chromosomal anomalies
59
Cystic Adenomatoid malformation
- abnormal formation of the bronchial tree - replacement of normal pulmonary tissue with cyst - may be assoc with renal or gi abnormalities
60
CAMS sono findings
- simple or multiloculated cystic chest mass - medistinal shift - diaphragm is visible and intact - fetal hydrops - poly - usually unilateral
61
ectopic cardis
partial or complete displacement of the heart outside of the thorax
62
Ectopic cardis sono findings
- small thorax - heart located outside of thorax - extrathoracic pulsating mass
63
Ebstein anomaly
displacement of the septal and posterior leaflets of tricuspid valves into rt ventricle
64
ebstein anomaly sono findings
- 4 ch heart - enlargement of the heart (esp. rt atrium) - regurgation across the tricuspid valve with color and spectral doppler
65
diaphragmatic hernia
- diaphragm fails to close allowing herniation of abd cavity | - assoc with cardiac, renal chromosomal and central nervous system anomalies
66
diaphragmatic hernia sono findings
- stomach or liver located in thorax - inability to visualize normal diaphragm - mediastinal shift - small abd circumference - poly - usually unilateral - left sided defect more common
67
pleural effusion
- most commonly a malformation of the thoracic duct | - assoc with hydrops, infection, turner syndrome, and chromosomal acardiac abnormalities
68
pleural effusion sono findings
- anechoic fluid collection in fetal chest - fluid contours to surrounding lung and diaphragm - lung tissue appears echogenic
69
Tetralogy of fallot
most common form of cynatic heart disease
70
tetralogy of fallot
- subaortic ventricular spetal defect - aortic valve overriding the defect - pulmonic stenosis - hypertrophic of the rt ventricle in 3rd trim
71
Transpostion of great vessels
aorta arises from the rt ventricle and the pulmonary arteries arise from lt ventricle
72
transpostion of great vessels sono findings
- normal four chamber | - 2 great vessels do not criss cross but arise parallel from base of heart
73
bowl atresia
- obstruction usually occuring in the inferior small bowel | - assoc with meconium ileus and cystic fibrosis
74
bowel atresia sono findings
- multiple anechoic structures within fetal abd | - poly
75
duodenal atresia
- blockage of duodenum - normal afp level - assoc with tris 21, cardiac, urinary, and gi anomalies
76
duodenal atresia sono findings
- dilated stomach and prox duodenum (double bubble) | - poly
77
esophageal atresia
- congenital malformation of foregut | - assoc with tracheoesphageal fistula
78
esophageal atresia sono findings
- absence of stomach | - poly
79
hyperechoic bowel
- assoc with cystic fibrosis, infection, iugr, and chromosomal abnormalities - if isolated, normal fetal outcome
80
hyperechoic bowel sono findings
echogenicity of bowl is equal to bone
81
meconium ileus
- impaction of thick meconium in distal ileum | - assoc with cystic fibrosis
82
meconium ileus sono findings
- dilated illeum - ileum filled with echogenic materal - colon is small and empty
83
meconium peritonitis
bowel prforation caused by bowel atresia or meconium ileus
84
meconium peritonitis sono findings
- abd calcification - bowel dilation - poly
85
extrophy of bladder
- externalization of bladder onto ant abd wall | - caused by incomplete closure of inferior part of the anterior abd wall
86
extrophy of bladder sono findings
- cystic mass located in the inferior anterior abd wall - normal kidneys - normal AFI
87
hydronephrosis
urinary tract obstruction
88
hydronephrosis sono findings
- pelviectasis >10 mm | - ratio of renal pelvis dia to AP renal dia >50%
89
infantile polycystic disease
- bilateral renal disease - autosomal recessive - lethal condition
90
infantile polycystic disease sono findings
- hyperechoic enlarge kidneys - extreme oligo - no bladder
91
multicystic dysplastic kidneys
- kidney tissue is replaced by cysts | - additional renal anomalies occur up to 40% of cases
92
multicystic dysplastic kidneys sono findings
- renal tissue is replaced by multiple cyst - variable size - unilateral
93
posterior uretheral valve obstruction
- males | - presence of a membrane within the posterior urethera
94
posterior uretheral valve obstruction sono findings
- dilated bladder - dilated posterior urethera (key hole bladder) - hydroureter - hydronephrosis - oligo
95
renal agenesis
- absence of one or both kidneys | - pulmonary hypoplastia secondary to oligo
96
unilateral renal agenesis sono findings
- absence of one kidney - enlarged contralateral idney - fetal bladder visualized - normal amniotic fluid volume
97
bilateral renal agensis sono findings
- absence of both kidneys - no evidence of bladder - oligo
98
renal cyst sono findings
- anechoic renal mass - round or oval - smooth, thin wall margins - posterior acoustic enhancement
99
Uteropelvic junction obstruction
- results from an abnormal bend or kink in ureter | - obstruction of prox ureter
100
UPJ sono findings
- hydronephrosis - normal bladder - normal afi - unilateral
101
ureterovesical junction
- results form urethral defect - ureterocele - ureter stenosis
102
ureterovescial junction sono findings
- dilated ureter | - possible hydronephrosis
103
wilms tumor
malignant mass in pediatric renals
104
wilms tumor sono findings
echogenic solid renal mass
105
gastroschisis
- defect involves all layers of abd wall - elevated afp levels - not assoc with other anomalies - higher incidence in women younger than 20
106
gastroschisis sono findings
- paraumbilical wall defect - to the rt of normal umbilical cord insertion - normal CI - free floating herniated small bowel within amniotic cavity - poly
107
omphalocele
- midline defect covered by amnion and peritonuem - normal or elevated afp - assoc with cardiac, gentiourinary, gastrointestional, and chromosomal anomalies
108
omphalocele sono findings
- midline anterior abd wall mass - contains herniated viscera - umbilical cord enters mass
109
sacrococcygeal teratome
- benign neoplasm protruding from posterior wall of sacrum - possible increase in AFP level - mass may extend into pelvis and abd
110
sacrococcygeal teratome sono findings
- solid or complex mass protruding from fetal rump - calcification - normal spine - bladder displacement - hydronephrosis - poly
111
umbilical hernia
less serious than omphalocele
112
umbilical hernia sono findings
- small anterior abd wall defect - normal cord insertion - typically contain peritoneu - rarely contain omentum or bowel
113
achondrogensis
lethal short limb dysplasia
114
achondrogensis type 1
- autosomal recessive - 20 % of cases - thin ribs
115
achondrogensis type 2
- autosomal dominant - 80% of cases - ribs appear thicker
116
achondroplasia
- abnormal cartilage deposits at the lone bone epiphysis | - most common form
117
achondroplasia sono findings
- macrocrania - micromelia - frontal bossin - hypoplastic thorax - ventriculomegaly
118
clubfoot
- development defect - abnormal relationship of the tarsal bones and the calcaneus - 55% of cases are bilateral - polynesian and middle eastern prevalence
119
clubfoot sono findings
- forefoot is oriented in same plane as lower leg | - persistent abnormal inversion fo the foot at an angle perpendicular to lower leg
120
osteogenesis imperfecta
- disorder of collagen production leading to brittle bones - type I - IV - type 2 is most lethal - before 24 w , demineralization of bone or abormal limb length or shape may bot yet be apparent
121
osteogensis imperfecta type 1
- bowin of long bones - may demonstrate fractures - thick bones have wrinkled appearance
122
osteogensis imperfecta type 2
- hypomineralization - significant bone shortening - narrow bell-shaped chest - multiple, fractures of long bones, ribs, and spine - thin cranium
123
osteogensis imperfecta type 3
- occasional rib fractures - thin cranium - mild leg bowing
124
osteogensis imperfecta type 4
- bowling of limbs - occasional rib and limb fractures - head is of normal size
125
rocker bottom foot
- tris 18
126
rocker bottom foot sono findings
- prominent head | - convex sole
127
thanatophoric dysplasia
- lethal skeletal dysplasia | - male dominance
128
thanatophoric dysplasia sono findings
- severe rhizomelia - micromelia - bowing of limbs - cloverleaf macrocephaly - frontal bossing - depressed nasal bridge - hypertelerism - ventriculomegaly - thick soft tissue - narrow bell shaped chest - protuberant abd - narrow spinal canal - small hands - poly

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