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OB/GYN Board Review > Fetal Abnormalities > Flashcards

Fetal Abnormalities Flashcards

(118 cards)

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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

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2
Q

thanatophoric dysplasia

A

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

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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

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4
Q

achondroplasia

A

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

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5
Q

diastrophic dysplasia

A

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

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6
Q

ventriculomegaly

A

“hydrocephalus”

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

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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

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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

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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

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10
Q

eclampsia

A

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

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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

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12
Q

pentalogy of cantrell

A

a congenital disorder charac. by two major defects

  1. ectopia cordis
  2. abd wall defect
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13
Q

meckel gruber syndrome is assoc with what?

A

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

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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

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15
Q

twin to twin transfusion syndrome

A

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

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16
Q

which fetal abnormality is assoc. with fused thalamic cerebri?

A

Patau (Trisomy 13)

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17
Q

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

A

CSP

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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

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19
Q

assoc. anomaly with macrocephaly

A

beckwith wiedemann, hydrocephalus, and hydranencephaly

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20
Q

microcephaly is assoc with what?

A

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

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21
Q

lemon shaped cranium

A

arnold chiari II mal

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22
Q

CM meas >10 mm is consistent with what anomaly?

A

dandy walker malformation

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23
Q

cm meas.

A

arnold chiari II mal

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24
Q

hydranencephaly

A

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

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25
hydraencephaly
a normally developed skull, with fluid replacing the cerebral hemispheres
26
cebocephaly
midline facial anomaly resulting in one nostril | holoprosencephaly
27
ethmocephaly
consists of a proboscis separating narrow set eyes with an absent nose (least common anomaly seen with holoprosencephaly)
28
dandy walker malf
``` CM > 10 mm results from abnormal cerebellar dev't 4th ventricle is enlarged vermis is hypoplastic or absent hydrocephalus ```
29
lissencephaly
4 layered cerebral cortex instead of 6 absence of gyri/sulci ventriculomegaly poor prog.
30
porencephaly/schizencephaly
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
31
encephalomenigocystocele
protrusion of meninges, brain tissue, and lateral ventricle
32
most cases of spina bifida are assoc, with what anomaly/syndrome
arnold chiari II mal
33
limb body wall complex
``` "body stalk anomaly" rare group of fatal defects short/absent umbilical cord ventral wall defects limb defects craniofacial defects scoliosis ```
34
cytomegalovirus
TORCH | most common utero fetal infections on the brain
35
teratoma
most common intracranial tumor found in utero | contains tissues, hair, fat and sebum
36
vein of galen aneruysm
``` an arteriovenous malf that occurs within the fetal brain hydrops cardiomegaly CHF turbulent flow ```
37
otocephaly
ears do not descend during embryology
38
microagnathia
very small jaw
39
cleft lip/palate
most common facial abnormality ^ risk in japanese and american tribes ^ in males
40
what syndrome is typically assoc with omphalocele
beckwith wiedemann syn
41
esophageal atresia is a result of what
an incomplete division of the foregut poly- many have tracheoesophageal fistulas
42
meconium ileus obstruction is often assoc, with what disorder
cystic fibrosis
43
achondrogenesis
LETHAL rare 1. short stubby arms, rib fractures and incomplete ossification of skull 2. macrocephaly, small chest, protruding abd, limbs are very short
44
achondroplasia
most common nonlethal (heterozygous) form | homozygous = lethal form
45
atrioventricular septal defects (AVSD) is highly assoc. with what anomalies
``` trisomy 21 tetralogy of fallot coarctation of the aorta transposition of the great vessels complete and incomplete forms ```
46
ductus venosum
shunts blood from umbilical vein to right atrium
47
foramen ovale
shunts blood from right atrium to left atrium
48
hypoplastic left heart syndrome
``` smaller than normal left ventricle high assoc. with coarctation of the aorta mitral valve atresia aortic atresia aortic stenosis ```
49
hypoplastic right heart syndrome
smaller than normal right ventricle absent/small pulmonary artery CHF hydrops
50
ebstein's anomaly
tricuspid valve is apically located large right atrium small right ventricle
51
tetralogy of fallot
VSD aorta overrides the interventricular septum hypertrophic right ventricle good prognosis
52
coarctation of the aorta
narrowing of the aorta
53
common cardiac tumors
cystic teratomas | rhabdomyomas
54
what are other assoc. anomalies with esophageal atresia
VACTERL IUGR Trisomy 18 & 21
55
atresia
congenital absence or closure of a normal body opening or tubular structure
56
hepatomegaly in a fetus may be seen with what syndrome
``` Beckwith Wiedemann (may also be seen with intrauterine infections) ```
57
choledochal cyst
a cystic growth on the CBD | can lead to: cholangitis, portal HTM, pancreatitis, liver failure
58
hirschprung disease
causes a functional fetal bowel obstruction caused by the absence of nerves within the bowel wall
59
what fetal abnormality may be seen with gastroschisis
IUGR
60
what other anomalies may be seen with omphalocele
``` trisomy 18 & 13 turner's beckwith wiedemann pentalogy of cantrell ectopia cordis cleft sternum anterior diaphragmatic defect pericardial defects ```
61
what substances are covering an omphalocele
amnion and peritoneum
62
what other fetal anomaly may be assoc. with renal agenesis
sirenomelia
63
multicystic dysplastic kidney
``` kidney tissue is replaced by cysts fatal if bilateral unilateral 1st trimester insult no functioning renal tissue AFI is normal ```
64
obstructive cystic dysplasia
caused by an early renal obstruction ureterocele can lead to bilateral obstruction caused by: pelviureteral junction & vesicoureteral junction obstruction
65
sonographic signs of obstructive cystic dysplasia
small, echogenic kidneys cysts located at the margins of kidneys hydronephrosis thick walled urinary bladder
66
other terms for fetal hydronephrosis
pelviectasis | caliectasis
67
abnormal measurements for the fetal renal pelvis
>10 mm after 30 wks gest. | 4-10 mm before 30 wks gest.
68
prune belly syndrome
``` eagle-barrett syndrome caused by megacystis (enlarged bldr) male prevalence TRIAD: absent abd musculature cyrptorchidism urinary tract abnormalities ```
69
truncus arteriosis
one great vessel instead of two
70
pentalogy of cantrell
a group of anomalies that combines ectopia cordis and an existing omphalocele
71
pleural effusion may be assoc. with what syndrome
turner syndrome
72
pulmonary sequestration
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
heterozygous achondroplasia
nonlethal autosomal dominant (1 carrier) rhizomelia
74
homozygous achondroplasia
``` LETHAL autosomal recessive (2 carriers) ```
75
sonographic findings of achondroplasia
``` rhizomelia macrocephaly trident hands depressed nasal bridge frontal bossing mild ventriculomegaly ```
76
trident hands
seen with achondroplasia =short proximal and middle phalanges ^ space b/t 3rd and 4th finger
77
achondrogenesis
rare and LETHAL | absent mineralization of the skeletal bones
78
sacrococcygeal teratoma
``` germ cell tumor most common congenital neoplasm female prevalence mass extending off distal fetal spine may become malignant ```
79
acromelia
shortening of distal segment of a limb
80
phocomelia
absent long bones with the hand and feet arising from shoulders and hips
81
radial ray defect
uncommon =absence/underdev't of the radius trisomy 13 & 18 VACTERL
82
amniotic band synd is a result of what
rupture of amnion
83
fetal factors assoc. with IUGR
chromosomal anomaly congenital malformation multiple gestations
84
placental factors assoc. with IUGR
abnormal trophoblastic invasion multiple placental infarctions abnormal cord insertion chorioangioma
85
encephalocele
protrusion of the brain through a cranial fissure | more commonly located in the occipital region of the head
86
sonographic findings of dandy walker
splaying of the hemispheres of the cerebellum | complete partial absence of the vermis
87
caudal regression syndrome
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
congenital cystic adenomatoid malf.
a cystic mass identified in the fetal chest | an abnormal formation of the bronchial tree replaces normal pulmonary tissue with cysts
89
crescent-shaped cerebellum
"banana sign" marker for spina bifida arnold chiari II lemon-shaped skull
90
infantile PKD
autosomal recessive | affects fetal kidneys and liver
91
how facial abnormalities affect amniotic fluid volume
affect the ability to swallow resulting in polyhydramnios
92
pulmonary hypoplasia
"hypoplastic lungs" a lethal condition assoc. with cases oligo-, genitourinary abnorm., diaphrag. hernia, skeletal dysplasias, and chromo. abnormal. =underdev't of lungs
93
sandal toe deformity
trisomy 21 | separation of the big toe from the other digits
94
acardiac twin
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
beckwith wiedemann syndrome findings
macroglossia omphalocele hemi-hypertrophy
96
division of the zygote 4-8 days after fertilization
mono-di twinning | 2 amnions and one chorion (shared placenta)
97
dizygotic twins
"fraternal twins" | arise from separate ova that are individually fertilized
98
which of the following fetal abnormalities is more commonly assoc. with diabetic pts?
caudal regression syndrome
99
a defect in the fetal lymphatic system typically results in the dev't of a...
cystic hygroma
100
hydranencephaly is an abnormality of the what?
cerebral cortex
101
hydrocephalus
ventriculomegaly most common cause is obstruction of the flow of CSF due to stenosis good prog.
102
choroid plexus cyst that does not resolve, may indicate what anomaly
trisomy 18
103
encephalocele
protrusion of brain tissue only
104
what is ectopia cordis assoc. with?
``` omphalocele diaphragmatic hernia pentalogy of cantrell holoprosencephaly tetralogy of fallot ```
105
syndrome assoc with bilateral renal agenesis
potter's syndrome
106
most common cardiac defects
VSD 1. membranous (most common) 2. muscular
107
ductus arteriosus
shunts blood from pulmonary vein to descending aorta
108
normal cardiac outflows
pulmonary artery is attached to right ventricle (RVOT) | aorta is attached to left ventricle (LVOT)
109
absent stomach is an indication of what abnormality
esophageal atresia
110
cause of cliteromegaly
maternal hormone stimulation
111
3 types of cardiac defects
VSD ASD AVSD
112
CCAM
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
foramen of bochdalek
LEFT most common posterior lateral
114
foramen of morgagni
RIGHT | anterior medial
115
thanatophoric dysplasia
``` most common lethal skeletal dysplasia cloverleaf skull frontal bossing hydrocephalus short long bones/bowed narrow thorax hypoplasia of lungs ```
116
caudal regression syndrome
causes by uncontrolled maternal diabetes agenesis of sacrum and coccyx defects in lumbar and lower extremities
117
sirenomelia
``` mermaid syndrome fusion of lower extremities bilat. renal agenesis present oligo- possible cardiac defects 2 vessel cord caused by uncontrolled maternal diabetes ```
118
asymmetric IUGR
occurs when the head is spare, but the body is small growth slows late in pregnancy most common

OB/GYN Board Review (8 decks)

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