Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

OB-GYN Board Review > Fetal Abnormalities > Flashcards

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

renal cyst

A
  • rare
  • anechoic, round, smooth, enhancement
  • differential: hyrdo, multicystic dysplastic kidney
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

macroglossia

A
  • associated with Beckwith-Wiedemann and Down syndromes
  • persistent protrusion of the tongue
  • polyhydramnios
  • differential: normal tongue or umbilical cord
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

holoprosencephaly

A
  • associated with trisomy 13
  • alobar: most severe
  • semilobar: milder form
  • lobar: two large lateral ventricles, mildest form
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

esophageal atresia

A
  • congenital malformation of the foregut
  • associated with tracheoesophageal fistula
  • absence of stomach
  • possible poly
  • differential: normal esophagus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

prosencephaly

A
  • a result of infarction or hemorrhage or the brain
  • anechoic mass within an area of brain tissue
  • midline brain shift
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

OB-GYN Board Review (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions