Fetal Abnormalities Flashcards
sacrococcygeal teratoma
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
thanatophoric dysplasia
a lethal skeletal dysplasia demonstrating sever rhizomelia, bell-shaped chest and cloverleaf skull
cystic hygroma
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
achondroplasia
a nonlethal skeletal dysplasia with abnormal cartilage deposits at the long bone epiphysis
diastrophic dysplasia
a very rare autosomal recessive disorder characterized by micromelia, talipes, cleft palate and hand abnormalities
ventriculomegaly
“hydrocephalus”
caused by: spina bifida, encephalocele, Dandy-Walker, agenesis of corpus callosum, holoprosencephaly, and aqueductal stenosis
hydranencephaly
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
preeclampsia
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
fetal hydrops
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
eclampsia
the gravest form of pregnancy induced HTN, charac. by seizures, proteinuria, edema, and coma
eagle barrett syndrome
“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
pentalogy of cantrell
a congenital disorder charac. by two major defects
- ectopia cordis
- abd wall defect
meckel gruber syndrome is assoc with what?
assoc. with infantile PCKD, nonvisualization of fetal bladder, encephalocele, and polydactyly
twin to twin transfusion syndrome
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
twin to twin transfusion syndrome
the most common cause of discordant growth in monochorionic twin gestation
arteriovenous anastomosis present
which fetal abnormality is assoc. with fused thalamic cerebri?
Patau (Trisomy 13)
agenesis of the corpus callosum, generally results in agenesis of what other structure?
CSP
agenesis of the corpus callosum and CSP are assoc. with what syndromes/anomalies?
holoprosencephaly, Dandy walker, aqueductal stenosis, trisomy 18, 8, 13
assoc. anomaly with macrocephaly
beckwith wiedemann, hydrocephalus, and hydranencephaly
microcephaly is assoc with what?
TORCH infections, trisomy 13, meckel gruber, fetal alcohol syndrome
lemon shaped cranium
arnold chiari II mal
CM meas >10 mm is consistent with what anomaly?
dandy walker malformation
cm meas.
arnold chiari II mal
hydranencephaly
FATAL
entire cerebrum is replaced by a large sac containing CSF
falx cerebri may be partially or completely absent
hydraencephaly
a normally developed skull, with fluid replacing the cerebral hemispheres
cebocephaly
midline facial anomaly resulting in one nostril
holoprosencephaly
ethmocephaly
consists of a proboscis separating narrow set eyes with an absent nose
(least common anomaly seen with holoprosencephaly)
dandy walker malf
CM > 10 mm results from abnormal cerebellar dev't 4th ventricle is enlarged vermis is hypoplastic or absent hydrocephalus
lissencephaly
4 layered cerebral cortex instead of 6
absence of gyri/sulci
ventriculomegaly
poor prog.
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
encephalomenigocystocele
protrusion of meninges, brain tissue, and lateral ventricle
most cases of spina bifida are assoc, with what anomaly/syndrome
arnold chiari II mal
limb body wall complex
"body stalk anomaly" rare group of fatal defects short/absent umbilical cord ventral wall defects limb defects craniofacial defects scoliosis
cytomegalovirus
TORCH
most common utero fetal infections on the brain
teratoma
most common intracranial tumor found in utero
contains tissues, hair, fat and sebum
vein of galen aneruysm
an arteriovenous malf that occurs within the fetal brain hydrops cardiomegaly CHF turbulent flow
otocephaly
ears do not descend during embryology
microagnathia
very small jaw
cleft lip/palate
most common facial abnormality
^ risk in japanese and american tribes
^ in males
what syndrome is typically assoc with omphalocele
beckwith wiedemann syn
esophageal atresia is a result of what
an incomplete division of the foregut
poly-
many have tracheoesophageal fistulas
meconium ileus obstruction is often assoc, with what disorder
cystic fibrosis
achondrogenesis
LETHAL
rare
1. short stubby arms, rib fractures and incomplete ossification of skull
2. macrocephaly, small chest, protruding abd, limbs are very short
achondroplasia
most common nonlethal (heterozygous) form
homozygous = lethal form
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
ductus venosum
shunts blood from umbilical vein to right atrium
foramen ovale
shunts blood from right atrium to left atrium
hypoplastic left heart syndrome
smaller than normal left ventricle high assoc. with coarctation of the aorta mitral valve atresia aortic atresia aortic stenosis
hypoplastic right heart syndrome
smaller than normal right ventricle
absent/small pulmonary artery
CHF
hydrops
ebstein’s anomaly
tricuspid valve is apically located
large right atrium
small right ventricle
tetralogy of fallot
VSD
aorta overrides the interventricular septum
hypertrophic right ventricle
good prognosis
coarctation of the aorta
narrowing of the aorta
common cardiac tumors
cystic teratomas
rhabdomyomas
what are other assoc. anomalies with esophageal atresia
VACTERL
IUGR
Trisomy 18 & 21
atresia
congenital absence or closure of a normal body opening or tubular structure
hepatomegaly in a fetus may be seen with what syndrome
Beckwith Wiedemann (may also be seen with intrauterine infections)
choledochal cyst
a cystic growth on the CBD
can lead to: cholangitis, portal HTM, pancreatitis, liver failure
hirschprung disease
causes a functional fetal bowel obstruction caused by the absence of nerves within the bowel wall
what fetal abnormality may be seen with gastroschisis
IUGR
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
what substances are covering an omphalocele
amnion and peritoneum
what other fetal anomaly may be assoc. with renal agenesis
sirenomelia
multicystic dysplastic kidney
kidney tissue is replaced by cysts fatal if bilateral unilateral 1st trimester insult no functioning renal tissue AFI is normal
obstructive cystic dysplasia
caused by an early renal obstruction
ureterocele can lead to bilateral obstruction
caused by: pelviureteral junction & vesicoureteral junction obstruction
sonographic signs of obstructive cystic dysplasia
small, echogenic kidneys
cysts located at the margins of kidneys
hydronephrosis
thick walled urinary bladder
other terms for fetal hydronephrosis
pelviectasis
caliectasis
abnormal measurements for the fetal renal pelvis
> 10 mm after 30 wks gest.
4-10 mm before 30 wks gest.
prune belly syndrome
eagle-barrett syndrome caused by megacystis (enlarged bldr) male prevalence TRIAD: absent abd musculature cyrptorchidism urinary tract abnormalities
truncus arteriosis
one great vessel instead of two
pentalogy of cantrell
a group of anomalies that combines ectopia cordis and an existing omphalocele
pleural effusion may be assoc. with what syndrome
turner syndrome
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)
heterozygous achondroplasia
nonlethal
autosomal dominant (1 carrier)
rhizomelia
homozygous achondroplasia
LETHAL autosomal recessive (2 carriers)
sonographic findings of achondroplasia
rhizomelia macrocephaly trident hands depressed nasal bridge frontal bossing mild ventriculomegaly
trident hands
seen with achondroplasia
=short proximal and middle phalanges
^ space b/t 3rd and 4th finger
achondrogenesis
rare and LETHAL
absent mineralization of the skeletal bones
sacrococcygeal teratoma
germ cell tumor most common congenital neoplasm female prevalence mass extending off distal fetal spine may become malignant
acromelia
shortening of distal segment of a limb
phocomelia
absent long bones with the hand and feet arising from shoulders and hips
radial ray defect
uncommon
=absence/underdev’t of the radius
trisomy 13 & 18
VACTERL
amniotic band synd is a result of what
rupture of amnion
fetal factors assoc. with IUGR
chromosomal anomaly
congenital malformation
multiple gestations
placental factors assoc. with IUGR
abnormal trophoblastic invasion
multiple placental infarctions
abnormal cord insertion
chorioangioma
encephalocele
protrusion of the brain through a cranial fissure
more commonly located in the occipital region of the head
sonographic findings of dandy walker
splaying of the hemispheres of the cerebellum
complete partial absence of the vermis
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
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
crescent-shaped cerebellum
“banana sign”
marker for spina bifida
arnold chiari II
lemon-shaped skull
infantile PKD
autosomal recessive
affects fetal kidneys and liver
how facial abnormalities affect amniotic fluid volume
affect the ability to swallow resulting in polyhydramnios
pulmonary hypoplasia
“hypoplastic lungs”
a lethal condition assoc. with cases oligo-, genitourinary abnorm., diaphrag. hernia, skeletal dysplasias, and chromo. abnormal.
=underdev’t of lungs
sandal toe deformity
trisomy 21
separation of the big toe from the other digits
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.)
beckwith wiedemann syndrome findings
macroglossia
omphalocele
hemi-hypertrophy
division of the zygote 4-8 days after fertilization
mono-di twinning
2 amnions and one chorion (shared placenta)
dizygotic twins
“fraternal twins”
arise from separate ova that are individually fertilized
which of the following fetal abnormalities is more commonly assoc. with diabetic pts?
caudal regression syndrome
a defect in the fetal lymphatic system typically results in the dev’t of a…
cystic hygroma
hydranencephaly is an abnormality of the what?
cerebral cortex
hydrocephalus
ventriculomegaly
most common cause is obstruction of the flow of CSF due to stenosis
good prog.
choroid plexus cyst that does not resolve, may indicate what anomaly
trisomy 18
encephalocele
protrusion of brain tissue only
what is ectopia cordis assoc. with?
omphalocele diaphragmatic hernia pentalogy of cantrell holoprosencephaly tetralogy of fallot
syndrome assoc with bilateral renal agenesis
potter’s syndrome
most common cardiac defects
VSD
- membranous (most common)
- muscular
ductus arteriosus
shunts blood from pulmonary vein to descending aorta
normal cardiac outflows
pulmonary artery is attached to right ventricle (RVOT)
aorta is attached to left ventricle (LVOT)
absent stomach is an indication of what abnormality
esophageal atresia
cause of cliteromegaly
maternal hormone stimulation
3 types of cardiac defects
VSD
ASD
AVSD
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
foramen of bochdalek
LEFT
most common
posterior lateral
foramen of morgagni
RIGHT
anterior medial
thanatophoric dysplasia
most common lethal skeletal dysplasia cloverleaf skull frontal bossing hydrocephalus short long bones/bowed narrow thorax hypoplasia of lungs
caudal regression syndrome
causes by uncontrolled maternal diabetes
agenesis of sacrum and coccyx
defects in lumbar and lower extremities
sirenomelia
mermaid syndrome fusion of lower extremities bilat. renal agenesis present oligo- possible cardiac defects 2 vessel cord caused by uncontrolled maternal diabetes
asymmetric IUGR
occurs when the head is spare, but the body is small
growth slows late in pregnancy
most common
