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