Fetal Abnormalities Flashcards
(57 cards)
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
meconium ileus
* 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
spina bifida
* 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
hypertelorism
* 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
hydronephrosis
* urinary tract obstruction
* pelviectasis \>10mm
* differential: prominal renal pelvis or renal cyst
29
posterior urethral valve obstruction
* 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
dandy-walker syndrome
* 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
agenesis of the corpus callosum
* failure of callosal fibers to form a normal connection
* may be partial or complete
* dilation of third ventricle
* absent of CSP
32
cystic adenomatoid malformation
* 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
strawberry shape
* associated with trisomy 18
* flattened occiput diameter and narrowing of the frontal portion of the skull
34
caudal regression
* 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
tetralogy of fallot
* most common form of cyanotic heart disease
* subaortic ventricular septal defect
* aortic valve overriding the defect
* pulmonic stentosis
* differential: ebstein anomaly
36
lemon shape
* may be normal finding
* associated with spina bifida
* bilateral indentation of the frontal bones
37
renal agenesis
* 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
rocker bottom feet
* trisomy 18
* other chromosomal abnormalities
* fetal syndromes
* prominent heal
* convex sole
* differential: normal foot
39
Acrania
* abnormal migration if mesenchymal tissues
* skull is absent
* brain is present
* elevated AFP levels
* coexisting spinal defects, clubfoot, cleft lip and palate
40
ureterovesical junction
* results from urethral defect
* ureterocele
* ureter stenosis
* dilated ureter
* possible hydro
* differential: UPJ or bowel
41
wilms tumor
* malignant mass
* echogenic solid renal mass
* differential: adrenal hemorrhage
42
omphalocele
* 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
anophthalmia
* 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
pleural effusion
* 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
meconium peritonitis
* bowel performation caused by bowel atresia or meconium ileus
* abdominal calcification
* bowel dilation
* poly
* differential: gallstone, splenic calcification, congenital infection, hepatic necrosis
46
thanatophoric dysplasia
* lethal skeletal dysplasia
* male dominance
* severe rhizomelia
* micromelia
* cloverleaf skull
* poly
* hypertelorism
* bell shaped chest
* differential: achondroplasia or osteogenesis imperfecta
47
encephalocele
* 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
bowel atresia
* 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
osteogenesis imperfecta
* 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
duodenal atresia
* 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
facial cleft
* defect of the upper lip
* most common facial abnormality
* anechoic defect between the upper lip and nostrils
* polyhydromnios
* small stomach
* differential: technical error
52
extrophy of the bladder
* 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
sacrococcygeal teratoma
* benign neoplasm protruding from wall of sacrum
* possible increase AFP
* higher ratio in female
* solid or complex
* differential: myelomeningocele
54
transposition of the great vessels
* 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
nuchal edema
* thickening of the nuchal fold
* associated with chromosomal abnormalities
* anechoic posterior cervical mass
* midline septum
* differential: cystic hygroma
56
umbilical hernia
* less serious than omphalocele
* small anterior wall defect
* typically contains peritoneum
* differential: omphalocele or fetal position
57
hyperechoic bowel
* associated with cystic fibrosis, infection, IUGR, and chromosomal abnormalities
* echogenicity equal to bone
* differential: meconium ileus
