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OB Review > Fetal Abnormalities > Flashcards

Fetal Abnormalities Flashcards

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
Q

Microcephaly

A
  • overall reduction in brain size
  • chromosomal aberration
  • intrauterine infection
  • difficult to detect before 24 w
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26
Q

microcephaly sono findings

A
  • small bpd and hc
  • decrease hc/ ac ratio
  • sloping forehead
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27
Q

prosencephaly

A

result of infarction or hemorrhage of brain

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28
Q

prosencephaly sono findings

A
  • anechoic mass w/in an area of brain tissue

- midline brain shift

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29
Q

strawberry shape

A

assoc with tris 18

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30
Q

strawberry shape sono findings

A

flattened occiput dia and narrowing of the frontal portion of the skill

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31
Q

anecephaly

A
  • 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
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32
Q

anecephaly is assoc with

A

malformation of the spine, face, feet, and abd wall

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33
Q

anencephaly sono findings

A
  • absence of cranial vault
  • bulging eyes
  • brain tissue herniating from defect
  • macroglossia
  • poly
  • increase in fetal activity
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34
Q

caudal regression

A
  • structural abnoramlity of caudal end of the neural tube

- more common in patients with diabetes

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35
Q

caudal regression is assoc with

A

genitourinary, gastrointestinal and cardiovascular abnormalities

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36
Q

caudal regression sono findings

A
  • absent sacrum
  • fused pelvis
  • short femurs
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37
Q

encephalocele

A
  • normal afp
  • presence of brain in cranial protusion
  • more commonly arise in occipital region
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38
Q

encephalocele sono findings

A
  • spherical fluid filled or brain filled sac extending from calvaria
  • bony calvarial defect
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39
Q

spina bifida

A

failure of neural tube to close completely

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40
Q

spina bifida occulta

A
  • defect is covered by normal soft tissue
  • normal afp level
  • rarely diagnosed with ultrasound
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41
Q

spina bifida aperta

A
  • defect is uncovered
  • elevated afp levels
  • assoc with cleft lip and palate, cardiac defects, encephalocele, gi anomalies, and clubfoot
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42
Q

Anophthalmia

A
  • lack of fusion of the maxillary prominences with the nasal prominence on one or both sides
  • failure of optic vesicle to form
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43
Q

anophthalmia sono findings

A

absence of globe or often the orbit

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44
Q

Cyclopia

A
  • midline fusion of the orbits

- assoc with holoprosencephaly, tris 13, microcephaly, williams syndrome

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45
Q

cyclopia sono findings

A

single midline orbit

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46
Q

facial cleft

A
  • defect in upper lip

- most common facial abnormality

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47
Q

facial cleft sono findings

A
  • anechoic defect between the upper lip and nostrils
  • poly
  • small stomach
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48
Q

hypotelorism

A

orbits placed closer together than expected

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49
Q

hypotelorism sono findings

A

abnormal small interocular distance for gestational age

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50
Q

hypertolerism

A
  • orbits placed wider apart than expected

- assoc with tris 18, noonan syndrome, medial cleft syndrome, craniosynostosis and anterior cepohalocele

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51
Q

hypertolerism sono findings

A

abmormally wide interocular distance for gestational age

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52
Q

macroglossia

A
  • assoc with beckwith wiedemann and downs

- persistent protrusion of the tongue

53
Q

macroglossa sono findings

A
  • persistent protrusion of the fetal tongue

- poly

54
Q

micrognathia

A
  • hypoplastic mandible

- assoc with tris 18

55
Q

micrognathia sono findings

A
  • small receding chin and lower lip
  • poly
  • protrusion of upper lip
56
Q

Cystic hygroma

A
  • developmental defect fo the lymphatic system

- assoc with chromosomal abnormalities, fetal hydrops, and fetal heart failure

57
Q

Cystic hygroma sono findings

A
  • multilocular anechoic cervical mass
  • thin surrounding membrane
  • no cranial defect
  • continuous with abnormal skin and subcutaneous tissue
58
Q

nuchal edema

A
  • thickening of nuchal fold

- assoc with chromosomal anomalies

59
Q

Cystic Adenomatoid malformation

A
  • abnormal formation of the bronchial tree
  • replacement of normal pulmonary tissue with cyst
  • may be assoc with renal or gi abnormalities
60
Q

CAMS sono findings

A
  • simple or multiloculated cystic chest mass
  • medistinal shift
  • diaphragm is visible and intact
  • fetal hydrops
  • poly
  • usually unilateral
61
Q

ectopic cardis

A

partial or complete displacement of the heart outside of the thorax

62
Q

Ectopic cardis sono findings

A
  • small thorax
  • heart located outside of thorax
  • extrathoracic pulsating mass
63
Q

Ebstein anomaly

A

displacement of the septal and posterior leaflets of tricuspid valves into rt ventricle

64
Q

ebstein anomaly sono findings

A
  • 4 ch heart
  • enlargement of the heart (esp. rt atrium)
  • regurgation across the tricuspid valve with color and spectral doppler
65
Q

diaphragmatic hernia

A
  • diaphragm fails to close allowing herniation of abd cavity

- assoc with cardiac, renal chromosomal and central nervous system anomalies

66
Q

diaphragmatic hernia sono findings

A
  • 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
Q

pleural effusion

A
  • most commonly a malformation of the thoracic duct

- assoc with hydrops, infection, turner syndrome, and chromosomal acardiac abnormalities

68
Q

pleural effusion sono findings

A
  • anechoic fluid collection in fetal chest
  • fluid contours to surrounding lung and diaphragm
  • lung tissue appears echogenic
69
Q

Tetralogy of fallot

A

most common form of cynatic heart disease

70
Q

tetralogy of fallot

A
  • subaortic ventricular spetal defect
  • aortic valve overriding the defect
  • pulmonic stenosis
  • hypertrophic of the rt ventricle in 3rd trim
71
Q

Transpostion of great vessels

A

aorta arises from the rt ventricle and the pulmonary arteries arise from lt ventricle

72
Q

transpostion of great vessels sono findings

A
  • normal four chamber

- 2 great vessels do not criss cross but arise parallel from base of heart

73
Q

bowl atresia

A
  • obstruction usually occuring in the inferior small bowel

- assoc with meconium ileus and cystic fibrosis

74
Q

bowel atresia sono findings

A
  • multiple anechoic structures within fetal abd

- poly

75
Q

duodenal atresia

A
  • blockage of duodenum
  • normal afp level
  • assoc with tris 21, cardiac, urinary, and gi anomalies
76
Q

duodenal atresia sono findings

A
  • dilated stomach and prox duodenum (double bubble)

- poly

77
Q

esophageal atresia

A
  • congenital malformation of foregut

- assoc with tracheoesphageal fistula

78
Q

esophageal atresia sono findings

A
  • absence of stomach

- poly

79
Q

hyperechoic bowel

A
  • assoc with cystic fibrosis, infection, iugr, and chromosomal abnormalities
  • if isolated, normal fetal outcome
80
Q

hyperechoic bowel sono findings

A

echogenicity of bowl is equal to bone

81
Q

meconium ileus

A
  • impaction of thick meconium in distal ileum

- assoc with cystic fibrosis

82
Q

meconium ileus sono findings

A
  • dilated illeum
  • ileum filled with echogenic materal
  • colon is small and empty
83
Q

meconium peritonitis

A

bowel prforation caused by bowel atresia or meconium ileus

84
Q

meconium peritonitis sono findings

A
  • abd calcification
  • bowel dilation
  • poly
85
Q

extrophy of bladder

A
  • externalization of bladder onto ant abd wall

- caused by incomplete closure of inferior part of the anterior abd wall

86
Q

extrophy of bladder sono findings

A
  • cystic mass located in the inferior anterior abd wall
  • normal kidneys
  • normal AFI
87
Q

hydronephrosis

A

urinary tract obstruction

88
Q

hydronephrosis sono findings

A
  • pelviectasis >10 mm

- ratio of renal pelvis dia to AP renal dia >50%

89
Q

infantile polycystic disease

A
  • bilateral renal disease
  • autosomal recessive
  • lethal condition
90
Q

infantile polycystic disease sono findings

A
  • hyperechoic enlarge kidneys
  • extreme oligo
  • no bladder
91
Q

multicystic dysplastic kidneys

A
  • kidney tissue is replaced by cysts

- additional renal anomalies occur up to 40% of cases

92
Q

multicystic dysplastic kidneys sono findings

A
  • renal tissue is replaced by multiple cyst
  • variable size
  • unilateral
93
Q

posterior uretheral valve obstruction

A
  • males

- presence of a membrane within the posterior urethera

94
Q

posterior uretheral valve obstruction sono findings

A
  • dilated bladder
  • dilated posterior urethera (key hole bladder)
  • hydroureter
  • hydronephrosis
  • oligo
95
Q

renal agenesis

A
  • absence of one or both kidneys

- pulmonary hypoplastia secondary to oligo

96
Q

unilateral renal agenesis sono findings

A
  • absence of one kidney
  • enlarged contralateral idney
  • fetal bladder visualized
  • normal amniotic fluid volume
97
Q

bilateral renal agensis sono findings

A
  • absence of both kidneys
  • no evidence of bladder
  • oligo
98
Q

renal cyst sono findings

A
  • anechoic renal mass
  • round or oval
  • smooth, thin wall margins
  • posterior acoustic enhancement
99
Q

Uteropelvic junction obstruction

A
  • results from an abnormal bend or kink in ureter

- obstruction of prox ureter

100
Q

UPJ sono findings

A
  • hydronephrosis
  • normal bladder
  • normal afi
  • unilateral
101
Q

ureterovesical junction

A
  • results form urethral defect
  • ureterocele
  • ureter stenosis
102
Q

ureterovescial junction sono findings

A
  • dilated ureter

- possible hydronephrosis

103
Q

wilms tumor

A

malignant mass in pediatric renals

104
Q

wilms tumor sono findings

A

echogenic solid renal mass

105
Q

gastroschisis

A
  • defect involves all layers of abd wall
  • elevated afp levels
  • not assoc with other anomalies
  • higher incidence in women younger than 20
106
Q

gastroschisis sono findings

A
  • paraumbilical wall defect
  • to the rt of normal umbilical cord insertion
  • normal CI
  • free floating herniated small bowel within amniotic cavity
  • poly
107
Q

omphalocele

A
  • midline defect covered by amnion and peritonuem
  • normal or elevated afp
  • assoc with cardiac, gentiourinary, gastrointestional, and chromosomal anomalies
108
Q

omphalocele sono findings

A
  • midline anterior abd wall mass
  • contains herniated viscera
  • umbilical cord enters mass
109
Q

sacrococcygeal teratome

A
  • benign neoplasm protruding from posterior wall of sacrum
  • possible increase in AFP level
  • mass may extend into pelvis and abd
110
Q

sacrococcygeal teratome sono findings

A
  • solid or complex mass protruding from fetal rump
  • calcification
  • normal spine
  • bladder displacement
  • hydronephrosis
  • poly
111
Q

umbilical hernia

A

less serious than omphalocele

112
Q

umbilical hernia sono findings

A
  • small anterior abd wall defect
  • normal cord insertion
  • typically contain peritoneu
  • rarely contain omentum or bowel
113
Q

achondrogensis

A

lethal short limb dysplasia

114
Q

achondrogensis type 1

A
  • autosomal recessive
  • 20 % of cases
  • thin ribs
115
Q

achondrogensis type 2

A
  • autosomal dominant
  • 80% of cases
  • ribs appear thicker
116
Q

achondroplasia

A
  • abnormal cartilage deposits at the lone bone epiphysis

- most common form

117
Q

achondroplasia sono findings

A
  • macrocrania
  • micromelia
  • frontal bossin
  • hypoplastic thorax
  • ventriculomegaly
118
Q

clubfoot

A
  • development defect
  • abnormal relationship of the tarsal bones and the calcaneus
  • 55% of cases are bilateral
  • polynesian and middle eastern prevalence
119
Q

clubfoot sono findings

A
  • forefoot is oriented in same plane as lower leg

- persistent abnormal inversion fo the foot at an angle perpendicular to lower leg

120
Q

osteogenesis imperfecta

A
  • 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
Q

osteogensis imperfecta type 1

A
  • bowin of long bones
  • may demonstrate fractures
  • thick bones have wrinkled appearance
122
Q

osteogensis imperfecta type 2

A
  • hypomineralization
  • significant bone shortening
  • narrow bell-shaped chest
  • multiple, fractures of long bones, ribs, and spine
  • thin cranium
123
Q

osteogensis imperfecta type 3

A
  • occasional rib fractures
  • thin cranium
  • mild leg bowing
124
Q

osteogensis imperfecta type 4

A
  • bowling of limbs
  • occasional rib and limb fractures
  • head is of normal size
125
Q

rocker bottom foot

A
  • tris 18
126
Q

rocker bottom foot sono findings

A
  • prominent head

- convex sole

127
Q

thanatophoric dysplasia

A
  • lethal skeletal dysplasia

- male dominance

128
Q

thanatophoric dysplasia sono findings

A
  • 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

OB Review (12 decks)

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