Fetal Abnormalities Flashcards

1
Q

sacrococcygeal teratoma

A

a tumor at the distal portion of the fetal spine; demonstrates a normal spine and may extend into pelvis and abd, displacing urinary bladder and resulting in hydro

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

thanatophoric dysplasia

A

a lethal skeletal dysplasia demonstrating sever rhizomelia, bell-shaped chest and cloverleaf skull

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

cystic hygroma

A

a multilocular cystic cervical mass, contiguous with posterior surface of the fetal head and neck
TURNER’S SYNDROME
most common fetal neck mass
caused by obstruction of lymph system

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

achondroplasia

A

a nonlethal skeletal dysplasia with abnormal cartilage deposits at the long bone epiphysis

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

diastrophic dysplasia

A

a very rare autosomal recessive disorder characterized by micromelia, talipes, cleft palate and hand abnormalities

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

ventriculomegaly

A

“hydrocephalus”

caused by: spina bifida, encephalocele, Dandy-Walker, agenesis of corpus callosum, holoprosencephaly, and aqueductal stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

hydranencephaly

A

an abnormality of the brain tissue
congenital absence of the cerebral hemispheres because of an occlusion of the carotid arteries
results from vascular compromise or congenital infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

preeclampsia

A

an abnormal condition of pregnancy charact. by the onset of acute hypertension after the 24th wk of gest.
TRIAD sympt: maternal HTN, proteinuria, and edema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

fetal hydrops

A

abnormal accum. of fluid in fetal body and soft tissue

Result in: anasarca, scalp edema, pleural eff., abd ascites, and pericardial eff, hydramnios, and placenta edema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

eclampsia

A

the gravest form of pregnancy induced HTN, charac. by seizures, proteinuria, edema, and coma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

eagle barrett syndrome

A

“Prune Belly Syndrome”
assoc. with hydronephrosis, megaureter, oligo-, small thorax, large abd, scoliosis, hip subluxation/dislocation, and cryptorchidism
manifested by dilatation of renal collecting system

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

pentalogy of cantrell

A

a congenital disorder charac. by two major defects

  1. ectopia cordis
  2. abd wall defect
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

meckel gruber syndrome is assoc with what?

A

assoc. with infantile PCKD, nonvisualization of fetal bladder, encephalocele, and polydactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

twin to twin transfusion syndrome

A

arterial blood from the donor twin pumps into the venous system of the recieving twin
donor twin displays oligo and IUGR
receiving twin displays poly and hydrops, macrosomia, placentomegaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

twin to twin transfusion syndrome

A

the most common cause of discordant growth in monochorionic twin gestation
arteriovenous anastomosis present

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

which fetal abnormality is assoc. with fused thalamic cerebri?

A

Patau (Trisomy 13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

agenesis of the corpus callosum, generally results in agenesis of what other structure?

A

CSP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

agenesis of the corpus callosum and CSP are assoc. with what syndromes/anomalies?

A

holoprosencephaly, Dandy walker, aqueductal stenosis, trisomy 18, 8, 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

assoc. anomaly with macrocephaly

A

beckwith wiedemann, hydrocephalus, and hydranencephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

microcephaly is assoc with what?

A

TORCH infections, trisomy 13, meckel gruber, fetal alcohol syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

lemon shaped cranium

A

arnold chiari II mal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

CM meas >10 mm is consistent with what anomaly?

A

dandy walker malformation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

cm meas.

A

arnold chiari II mal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

hydranencephaly

A

FATAL
entire cerebrum is replaced by a large sac containing CSF
falx cerebri may be partially or completely absent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

hydraencephaly

A

a normally developed skull, with fluid replacing the cerebral hemispheres

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

cebocephaly

A

midline facial anomaly resulting in one nostril

holoprosencephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

ethmocephaly

A

consists of a proboscis separating narrow set eyes with an absent nose
(least common anomaly seen with holoprosencephaly)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

dandy walker malf

A
CM > 10 mm 
results from abnormal cerebellar dev't 
4th ventricle is enlarged
vermis is hypoplastic or absent
hydrocephalus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

lissencephaly

A

4 layered cerebral cortex instead of 6
absence of gyri/sulci
ventriculomegaly
poor prog.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

porencephaly/schizencephaly

A

porencephalic cyst is identified in the fetal brain with communication with the ventricular system
made up of a cyst filled with CSF that replaces normal brain tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

encephalomenigocystocele

A

protrusion of meninges, brain tissue, and lateral ventricle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

most cases of spina bifida are assoc, with what anomaly/syndrome

A

arnold chiari II mal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

limb body wall complex

A
"body stalk anomaly"
rare group of fatal defects
short/absent umbilical cord
ventral wall defects
limb defects 
craniofacial defects
scoliosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

cytomegalovirus

A

TORCH

most common utero fetal infections on the brain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

teratoma

A

most common intracranial tumor found in utero

contains tissues, hair, fat and sebum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

vein of galen aneruysm

A
an arteriovenous malf that occurs within the fetal brain
hydrops
cardiomegaly
CHF
turbulent flow
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

otocephaly

A

ears do not descend during embryology

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

microagnathia

A

very small jaw

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

cleft lip/palate

A

most common facial abnormality
^ risk in japanese and american tribes
^ in males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

what syndrome is typically assoc with omphalocele

A

beckwith wiedemann syn

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

esophageal atresia is a result of what

A

an incomplete division of the foregut
poly-
many have tracheoesophageal fistulas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

meconium ileus obstruction is often assoc, with what disorder

A

cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

achondrogenesis

A

LETHAL
rare
1. short stubby arms, rib fractures and incomplete ossification of skull
2. macrocephaly, small chest, protruding abd, limbs are very short

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

achondroplasia

A

most common nonlethal (heterozygous) form

homozygous = lethal form

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

atrioventricular septal defects (AVSD) is highly assoc. with what anomalies

A
trisomy 21
tetralogy of fallot
coarctation of the aorta
transposition of the great vessels
complete and incomplete forms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

ductus venosum

A

shunts blood from umbilical vein to right atrium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

foramen ovale

A

shunts blood from right atrium to left atrium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

hypoplastic left heart syndrome

A
smaller than normal left ventricle
high assoc. with coarctation of the aorta
mitral valve atresia 
aortic atresia
aortic stenosis
49
Q

hypoplastic right heart syndrome

A

smaller than normal right ventricle
absent/small pulmonary artery
CHF
hydrops

50
Q

ebstein’s anomaly

A

tricuspid valve is apically located
large right atrium
small right ventricle

51
Q

tetralogy of fallot

A

VSD
aorta overrides the interventricular septum
hypertrophic right ventricle
good prognosis

52
Q

coarctation of the aorta

A

narrowing of the aorta

53
Q

common cardiac tumors

A

cystic teratomas

rhabdomyomas

54
Q

what are other assoc. anomalies with esophageal atresia

A

VACTERL
IUGR
Trisomy 18 & 21

55
Q

atresia

A

congenital absence or closure of a normal body opening or tubular structure

56
Q

hepatomegaly in a fetus may be seen with what syndrome

A
Beckwith Wiedemann 
(may also be seen with intrauterine infections)
57
Q

choledochal cyst

A

a cystic growth on the CBD

can lead to: cholangitis, portal HTM, pancreatitis, liver failure

58
Q

hirschprung disease

A

causes a functional fetal bowel obstruction caused by the absence of nerves within the bowel wall

59
Q

what fetal abnormality may be seen with gastroschisis

A

IUGR

60
Q

what other anomalies may be seen with omphalocele

A
trisomy 18 & 13
turner's
beckwith wiedemann
pentalogy of cantrell
ectopia cordis
cleft sternum
anterior diaphragmatic defect
pericardial defects
61
Q

what substances are covering an omphalocele

A

amnion and peritoneum

62
Q

what other fetal anomaly may be assoc. with renal agenesis

A

sirenomelia

63
Q

multicystic dysplastic kidney

A
kidney tissue is replaced by cysts 
fatal if bilateral
unilateral
1st trimester insult 
no functioning renal tissue
AFI is normal
64
Q

obstructive cystic dysplasia

A

caused by an early renal obstruction
ureterocele can lead to bilateral obstruction
caused by: pelviureteral junction & vesicoureteral junction obstruction

65
Q

sonographic signs of obstructive cystic dysplasia

A

small, echogenic kidneys
cysts located at the margins of kidneys
hydronephrosis
thick walled urinary bladder

66
Q

other terms for fetal hydronephrosis

A

pelviectasis

caliectasis

67
Q

abnormal measurements for the fetal renal pelvis

A

> 10 mm after 30 wks gest.

4-10 mm before 30 wks gest.

68
Q

prune belly syndrome

A
eagle-barrett syndrome
caused by megacystis (enlarged bldr)
male prevalence
TRIAD:
absent abd musculature
cyrptorchidism
urinary tract abnormalities
69
Q

truncus arteriosis

A

one great vessel instead of two

70
Q

pentalogy of cantrell

A

a group of anomalies that combines ectopia cordis and an existing omphalocele

71
Q

pleural effusion may be assoc. with what syndrome

A

turner syndrome

72
Q

pulmonary sequestration

A

extra pulmonary tissue is presnt within the pleural lung sac (intralobar)
or connected to the inferior border of the lung within its own pleural sac (extralobar)

73
Q

heterozygous achondroplasia

A

nonlethal
autosomal dominant (1 carrier)
rhizomelia

74
Q

homozygous achondroplasia

A
LETHAL 
autosomal recessive (2 carriers)
75
Q

sonographic findings of achondroplasia

A
rhizomelia
macrocephaly
trident hands
depressed nasal bridge
frontal bossing
mild ventriculomegaly
76
Q

trident hands

A

seen with achondroplasia
=short proximal and middle phalanges
^ space b/t 3rd and 4th finger

77
Q

achondrogenesis

A

rare and LETHAL

absent mineralization of the skeletal bones

78
Q

sacrococcygeal teratoma

A
germ cell tumor 
most common congenital neoplasm 
female prevalence
mass extending off distal fetal spine
may become malignant
79
Q

acromelia

A

shortening of distal segment of a limb

80
Q

phocomelia

A

absent long bones with the hand and feet arising from shoulders and hips

81
Q

radial ray defect

A

uncommon
=absence/underdev’t of the radius
trisomy 13 & 18
VACTERL

82
Q

amniotic band synd is a result of what

A

rupture of amnion

83
Q

fetal factors assoc. with IUGR

A

chromosomal anomaly
congenital malformation
multiple gestations

84
Q

placental factors assoc. with IUGR

A

abnormal trophoblastic invasion
multiple placental infarctions
abnormal cord insertion
chorioangioma

85
Q

encephalocele

A

protrusion of the brain through a cranial fissure

more commonly located in the occipital region of the head

86
Q

sonographic findings of dandy walker

A

splaying of the hemispheres of the cerebellum

complete partial absence of the vermis

87
Q

caudal regression syndrome

A

lack of dev’t of the lower limbs
affects lower spine, pelvis, and lower extremities
maternal diabetes
fetuses demonstrate fusion of the pelvis with short legs

88
Q

congenital cystic adenomatoid malf.

A

a cystic mass identified in the fetal chest

an abnormal formation of the bronchial tree replaces normal pulmonary tissue with cysts

89
Q

crescent-shaped cerebellum

A

“banana sign”
marker for spina bifida
arnold chiari II
lemon-shaped skull

90
Q

infantile PKD

A

autosomal recessive

affects fetal kidneys and liver

91
Q

how facial abnormalities affect amniotic fluid volume

A

affect the ability to swallow resulting in polyhydramnios

92
Q

pulmonary hypoplasia

A

“hypoplastic lungs”
a lethal condition assoc. with cases oligo-, genitourinary abnorm., diaphrag. hernia, skeletal dysplasias, and chromo. abnormal.
=underdev’t of lungs

93
Q

sandal toe deformity

A

trisomy 21

separation of the big toe from the other digits

94
Q

acardiac twin

A

rare anomaly of MONOZYGOTIC twinning
acardiac twin demonstrates a poorly developed upper body and an absent or rudimentary heart and receives blood through the normal twin gest. (shunts blood from vein to vein, or art. to art.)

95
Q

beckwith wiedemann syndrome findings

A

macroglossia
omphalocele
hemi-hypertrophy

96
Q

division of the zygote 4-8 days after fertilization

A

mono-di twinning

2 amnions and one chorion (shared placenta)

97
Q

dizygotic twins

A

“fraternal twins”

arise from separate ova that are individually fertilized

98
Q

which of the following fetal abnormalities is more commonly assoc. with diabetic pts?

A

caudal regression syndrome

99
Q

a defect in the fetal lymphatic system typically results in the dev’t of a…

A

cystic hygroma

100
Q

hydranencephaly is an abnormality of the what?

A

cerebral cortex

101
Q

hydrocephalus

A

ventriculomegaly
most common cause is obstruction of the flow of CSF due to stenosis
good prog.

102
Q

choroid plexus cyst that does not resolve, may indicate what anomaly

A

trisomy 18

103
Q

encephalocele

A

protrusion of brain tissue only

104
Q

what is ectopia cordis assoc. with?

A
omphalocele
diaphragmatic hernia
pentalogy of cantrell
holoprosencephaly
tetralogy of fallot
105
Q

syndrome assoc with bilateral renal agenesis

A

potter’s syndrome

106
Q

most common cardiac defects

A

VSD

  1. membranous (most common)
  2. muscular
107
Q

ductus arteriosus

A

shunts blood from pulmonary vein to descending aorta

108
Q

normal cardiac outflows

A

pulmonary artery is attached to right ventricle (RVOT)

aorta is attached to left ventricle (LVOT)

109
Q

absent stomach is an indication of what abnormality

A

esophageal atresia

110
Q

cause of cliteromegaly

A

maternal hormone stimulation

111
Q

3 types of cardiac defects

A

VSD
ASD
AVSD

112
Q

CCAM

A

congenital cystic adenomatoid malformation
a mass within the fetal lungs consisting of abnormal bronchial and lung tissue
has both solid and cystic components
similar to pulmonary sequestration
may resolve if unilateral
can lead to fetal hydrops

113
Q

foramen of bochdalek

A

LEFT
most common
posterior lateral

114
Q

foramen of morgagni

A

RIGHT

anterior medial

115
Q

thanatophoric dysplasia

A
most common lethal skeletal dysplasia
cloverleaf skull
frontal bossing
hydrocephalus
short long bones/bowed
narrow thorax
hypoplasia of lungs
116
Q

caudal regression syndrome

A

causes by uncontrolled maternal diabetes
agenesis of sacrum and coccyx
defects in lumbar and lower extremities

117
Q

sirenomelia

A
mermaid syndrome
fusion of lower extremities
bilat. renal agenesis present
oligo-
possible cardiac defects 
2 vessel cord
caused by uncontrolled maternal diabetes
118
Q

asymmetric IUGR

A

occurs when the head is spare, but the body is small
growth slows late in pregnancy
most common