Fetal Abnormalities Flashcards
1
Q
hypotelorism
A
- orbits placed closer together than expected
- abnormally small interocular distance for gestational age
- differential: poor fetal position or technical error
2
Q
clubfoot
A
- developmental defect
- abnormal relationship of the tarsal bones and the calceneus
- 55% of cases are bilateral
- forefoot is oriented in the same plane as the lower leg
- foot at angle perpendicular to lower leg
- differential: normal mobility of foot
3
Q
infantile polycystic disease
A
- bilateral renal disease
- autosomal recessive
- lethal condition
- hyperechoic enlarge kidneys
- extreme oligo
- bladder not seen
- differential: hyperechoic bowel, premature rupture of membranes
4
Q
diaphargmatic hernia
A
- diaphragm fails to close allowing herniation of the abdominal cavity
- associated with cardiac, renal, chromosomal, and central nervous system anomalies
- mediastinal shift
- usually unilateral
- left-side more common
- differential: cystic adenomatoid malformation
5
Q
ectopis cordis
A
- partial or complete displacement of the heat outside of teh thorax
- small thorax
- heart located outside thorax
- extrathoracic pulsating mass
- differential: acardiac twin or diaphragmatic hernia
6
Q
renal cyst
A
- rare
- anechoic, round, smooth, enhancement
- differential: hyrdo, multicystic dysplastic kidney
7
Q
macroglossia
A
- associated with Beckwith-Wiedemann and Down syndromes
- persistent protrusion of the tongue
- polyhydramnios
- differential: normal tongue or umbilical cord
8
Q
holoprosencephaly
A
- associated with trisomy 13
- alobar: most severe
- semilobar: milder form
- lobar: two large lateral ventricles, mildest form
9
Q
esophageal atresia
A
- congenital malformation of the foregut
- associated with tracheoesophageal fistula
- absence of stomach
- possible poly
- differential: normal esophagus
10
Q
ebstain anomaly
A
- displacement of the septal and posterior leaflets of the tricuspid valves into the right ventricle
- variable in degree
- enlargement of heart
- regurgitation across tricuspid
- differential: teralogy of fallot or ventricular septial defect
11
Q
gastroschisis
A
- defect involves all layers of abdominal wall
- high AFP
- not associated with other anomalies
- more likely in women under 20
- paraumbilical defect
- to the right of umbilical
- free floating bowel
- possible poly
- differential: normal or ruptured omphalocele
12
Q
cyclopia
A
- midline fusion of the orbits
- associated with holoprosencephaly, trisomy 13, microcephaly, williams syndrome
- single midline orbit
- differential: poor fetal position or technical error
13
Q
multicystic dysplastic kidney
A
- kidney tissue is replaced by cysts
- additional renal abnormalities occur in 40% of cases
- renal tissue replaced with cysts
- varible size
- usualy unilateral
- differential: fluid-filled bowel or hydronephrosis
14
Q
achondrogenesis
A
- lethal short limb dysplasia
- type I: auto recessive, thin ribs
- type II: auto dominant, ribs thicker
- severe micromelia
- bowing of long bones
- short trunk
- poor vertebral and cranial ossifications
- differential: osteogenesis imperfecta
15
Q
prosencephaly
A
- a result of infarction or hemorrhage or the brain
- anechoic mass within an area of brain tissue
- midline brain shift
16
Q
cystic hygroma
A
- developmental defect of the lymphatic system
- associated with chromosomal abnormalities, fetal hydrops, and fetal heart failure
- multilocular anechoic cervical mass
- differential: encephalocele, cystic taratoma, normal umbilical cord, thyroglossal cyst, nuchal edema
17
Q
arachnoid cyst
A
- congenital abnormality of the pia-arachnoid layer
- a result of trauma, infarction, or infection
- splaying of cerebellum hemispheres
- normal vermis
18
Q
ureteropelvic junction obstruction
A
- results from bend or kink in ureter
- obstruction of prox ureter
- hydro
- normal bladder
- fluid WNL
- unilateral
- differential:renal cyst or bowel
19
Q
hydranencephaly
A
- brain tissue os replaced by cerebrospinal fluid
- anechoic brain tissue
- nost associated with other abnormalities
- falx cerebri present
- brain usually spared
- variable presence of the third ventricle
20
Q
arnold chiari type II malformation
A
- displacement of the cerebellar vermis, fourth ventricle, medulla oblingata through foramen of magna into the upper cervical canal
- banana sign
- obliteration of cisterna magna
- ventriculomegaly
- lemon head
21
Q
achondroplasia
A
- abnormal cartilage deposits at the long bones epiphysis
- most common form
- macrocrania
- micromelia
- frontal bossing
- hypoplastic thorax
- ventriculomegaly
- differential: achondrogenesis or osteogenesis imperfecta
22
Q
anencephaly
A
- most common neural tube defect
- elevated AFP
- failure of the sephalic end of the neural tube to close completely
- portions of the midbrain and brain stem may be present
- differential: severe microcephaly, acrania, encephalocele, and amniotic band syndrome
23
Q
hyrdocephalus
A
- ventriculomegaly, generally symmetrical
- occipital horn dilates first
- mild enlargement: lateral ventricle 10-15mm
- severe enlargement: lateral ventricle >15mm, dangling of the choroid plexus
24
Q
micrognathia
A
- hypoplastic mandible
- associated with trisomy 18
- small receding chin and lower lip
- polyhydramnios
- protrusion of the upper lip
- differential: technical error or normal chin
25
Q
meconium ileus
A
- impaction of thick meconium in the distal ileum
- frequently associated with cystic fibrosis
- dilated ileum
- ileum filled with echogenic material
- colon is small and empty
- differential: normal echogenic bowel
26
Q
spina bifida
A
- failure of the neural tube to close completely
- occulta: defect is covered by normal soft tissue
- aperta: defect is uncovered, elevated AFP
- differential: sacrococcygeal teratoma
27
Q
hypertelorism
A
- orbits placed wider apart than expected
- associated with trisomy 18, Noonan syndrome, Median cleft syndrome. craniosynostosis, and anterior cephalocele
- abnormality wide interocular distance for gestational age
- differential: poor fetal position or technical error
28
Q
hydronephrosis
A
- urinary tract obstruction
- pelviectasis >10mm
- differential: prominal renal pelvis or renal cyst
29
Q
posterior urethral valve obstruction
A
- occurs in males
- membrane within posterior urethra
- urine is unable to pass
- overdistention of bladder
- oligo, hydronephrosis, hydroureter
- differential: normal fetal bladder or ureterovesical obstruction
30
Q
dandy-walker syndrome
A
- congential malformation of cerebellum with associated maldevelopment of the fourth ventricle
- enlarged posterior fossa
- splaying of cerebellar hemispheres
- complete of partial agenesis of the vermis
- cisterna magna >1 cm
- ventriculomegaly
31
Q
agenesis of the corpus callosum
A
- failure of callosal fibers to form a normal connection
- may be partial or complete
- dilation of third ventricle
- absent of CSP
32
Q
cystic adenomatoid malformation
A
- abnormal formation of the bronchial tree
- replacement of normal pulmonarytissues with cysts
- may be associated with renal of gastrointestinal abnormalities
- simple or multiloculated cystic chest mass
- mediastinal shift
- fetal hydrops, polyhydramnios, usually unilateral
- differential: diaphragmatic hernia, pleural effion, pericardial fluid
33
Q
strawberry shape
A
- associated with trisomy 18
- flattened occiput diameter and narrowing of the frontal portion of the skull
34
Q
caudal regression
A
- structural abnormaility of the caudal end of the neural tube
- more common inpatients with diabetes
- associated with genitourinary, gastrointestinal, and cardiovascular abnormalities
- absent sacrum, fused pelvis, short femurs
- differential: skeletal dysplasia
35
Q
tetralogy of fallot
A
- most common form of cyanotic heart disease
- subaortic ventricular septal defect
- aortic valve overriding the defect
- pulmonic stentosis
- differential: ebstein anomaly
36
Q
lemon shape
A
- may be normal finding
- associated with spina bifida
- bilateral indentation of the frontal bones
37
Q
renal agenesis
A
- absence of one or both kidneys
- pulmonary hypoplasia secondary to oligo
- unilateral: enlarged contolateral kidney, bladder seen, amniotic fluid WNL
- bilateral: no bladder, extreme oligo
- differential: infantile polycystic renal disease
38
Q
rocker bottom feet
A
- trisomy 18
- other chromosomal abnormalities
- fetal syndromes
- prominent heal
- convex sole
- differential: normal foot
39
Q
Acrania
A
- abnormal migration if mesenchymal tissues
- skull is absent
- brain is present
- elevated AFP levels
- coexisting spinal defects, clubfoot, cleft lip and palate
40
Q
ureterovesical junction
A
- results from urethral defect
- ureterocele
- ureter stenosis
- dilated ureter
- possible hydro
- differential: UPJ or bowel
41
Q
wilms tumor
A
- malignant mass
- echogenic solid renal mass
- differential: adrenal hemorrhage
42
Q
omphalocele
A
- covered by amnion and peritoneum
- normal or elevated AFP
- associated with cardiac, genitourinary, gastrointestinal, and chromosomal abnormalities
- midline, umbilical cord enters mass
- differential: umbilical hernia or fetal position
43
Q
anophthalmia
A
- lack of fusion of the maxillary prominences with the nasal prominence on one or both sides
- failure of the optic vesicle to form
- absence of the globe or often the orbit
- differental: poor fetal positon or technical error
44
Q
pleural effusion
A
- most commonly a malformation of the thoracic duct
- associated with hydrops, ifection, turner syndrome, and chromosomal and cardiac abnormalities
- anechoic fluid collection in the fetal chest
- differential: diaphragmatic hernia or fetal hydrops
45
Q
meconium peritonitis
A
- bowel performation caused by bowel atresia or meconium ileus
- abdominal calcification
- bowel dilation
- poly
- differential: gallstone, splenic calcification, congenital infection, hepatic necrosis
46
Q
thanatophoric dysplasia
A
- lethal skeletal dysplasia
- male dominance
- severe rhizomelia
- micromelia
- cloverleaf skull
- poly
- hypertelorism
- bell shaped chest
- differential: achondroplasia or osteogenesis imperfecta
47
Q
encephalocele
A
- normal AFP level
- presence of brain in a cranial protrusion
- more commonly arises in the occipital region
- spherical fluid-filled or brain-filled sac extending from the calvaria
- differential: cystic hygroma, cloverleaf skull, amniotic band syndrome, microcephaly
48
Q
bowel atresia
A
- obstruction usually in inferior small bowel
- may be associated with meconium ileus and cystic fibrosis
- multiple anechoic structures within abdomen
- poly
- differential: normal prominent loops of bowel or multicystic kidney
49
Q
osteogenesis imperfecta
A
- disorder of collagen production leading to brittle bones
- types I-IV
- type II: most lethal, hypomineralization, narrow thorax, multiple fractures
- differential: achondroplasia or achondrogenesis
50
Q
duodenal atresia
A
- blockage of the duodenum
- normal AFP
- associated with trisomy 21, cardiac, urinary, and GI anomalies
- double bubble
- poly
- differential: normal stomach or fluid filled bowel
51
Q
facial cleft
A
- defect of the upper lip
- most common facial abnormality
- anechoic defect between the upper lip and nostrils
- polyhydromnios
- small stomach
- differential: technical error
52
Q
extrophy of the bladder
A
- bladder outside of abdominal wall
- casued by incomplete closure of the inferior part of the anterior abdominal wall
- cystic mass located in the inferior anterior abdominal wall
- normal kidneys
- normal amnotic fluid volume
- differential: umbilical cord or umbilical cord cyst
53
Q
sacrococcygeal teratoma
A
- benign neoplasm protruding from wall of sacrum
- possible increase AFP
- higher ratio in female
- solid or complex
- differential: myelomeningocele
54
Q
transposition of the great vessels
A
- aorta arises from the right ventricle and the pulmonary arteries arise from the left ventricle
- two great vessels do not crisscross but arise parallel from the base of the heart
- differential: technical error
55
Q
nuchal edema
A
- thickening of the nuchal fold
- associated with chromosomal abnormalities
- anechoic posterior cervical mass
- midline septum
- differential: cystic hygroma
56
Q
umbilical hernia
A
- less serious than omphalocele
- small anterior wall defect
- typically contains peritoneum
- differential: omphalocele or fetal position
57
Q
hyperechoic bowel
A
- associated with cystic fibrosis, infection, IUGR, and chromosomal abnormalities
- echogenicity equal to bone
- differential: meconium ileus
