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103 Cards in this Set

  • Front
  • Back
when is fetal facial evaluation included in a diagnostic exam
when there is a family history of facial malformations or another congenital anomaly is found
fetuses with facial abnormalities usually have what other abnormalities
chromosomal
what hinders extensive facial screening
bone shadowing

poor fetal positioning


oligohydraminos


maternal obesity

when can fetal facial features be indentified
the end of the first trimester


facial congenital anomalies affect?
1in 600
-bony defect in calvarium that may occur in the occipital or parietal region. May cause hypertelorism
encephalocele
what is another cause of off axis encephalocele
amniotic band syndrome
occurs when the amnion disrupts early in the embryonic stage, leaving strains of tissue within the uterus that may lead to a malformed fetus
amniotic band syndrome
what is the sonographic appearance of the eye lens
echogenic circle within the orbit
small eyes
mcropthalmia
absent eyes
anopthalmia
abnormal protrusion of the eye
exopthalmia
congenital disorder in which the embryonic prosencephalon fails to properly divide the orbits into two cavities
cyclopia
cyclopia is more common with which gender?
female, and incompatible with life
measurement of the lateral to the medial wall of the same orbit
ocular diameter
lengeth between orbits
interocular diameter
lateral margin of one orbit to the lateral margin of the other orbit
binocular diameter
decreased distance between orbits
hypotelorism/stenopia
abnormally widely spaced orbits
hypertelorism/euryopia
associated with trisomy 13
hypotelorism
most accurate measurement for diagnosing hypertelorism
interocular
most common cause of hypertelorism
anterior cephalocele; displaces orbits laterally
hypertelorism associated with?
craniosynostosis
absence of external nasal structures and nasal passages
arhinia
tongue protrusion may suggest
macroglossia
enlarged tongue
macroglossia
macroglossia associated with
beckwith-wiedemann syndrome
if arhinia is suspected, what should the sonographer do?
look for nostril symmetry, nasal septum and continuity of upper lip to exclude cleft lip and palate
abnormal positioning of tongue may be indicative of?
oral cavity mass

obstructive process


macroglossia

teratoma in the oral cavty
epignathus
how are ears imaged
parasaggital or coronal plane
how often are ear malformations predicted perinatally?
rarely
low-set or small ears are indicative of?
down syndrome

turner syndrome



opening or gap
cleft
clefting occurs when?
when tissues of the lip and or palate of a fetus dont grow together early in pregnancy
children with clefts often dont have?
enough tissue in their mouth, and and they tissue they do have isnt fused together properly to form the roof of their mouths
narrow opening or gap in the skin of the upper lip that extends all the way to the base of the nose
cleft lip
the opening between the roof of the mouth and the nasal cavity
celft palate
best view for imaging cleft lip and palate
coronal
clefting occurs mostly with
trisomy 13 and 18
which gender is affected more by clefting
males
clefting identified with an incidence how often
1 in 700 births
clefting associated more with which race?
native americans
what percentage of those affected with cleft lip will have cleft palate?
80%
isolated unilateral cleft lip commonly originates on which side of the face
left
which cleft palate is difficult to diagnose via ultrasound
isolated
small chin
micrognathia
best plane for visualizing the mandible
saggital
micrognathia can be ____ or _____
incidental or associated with congenital anomalies
cloverleaf skull
craniosynostosis
consists of premature fusion of one or more cranial sutures (coronal, saggital, or lambdoid) often resulting in an abnormal head shape
craniosynostosis
cloverleaf skull has been associated with ?
skeletal dysplasias and ventriculomegaly
what should findings should prompt for search for further malformations
irregularities of the contour of the forehead
conditon in which the number of chromosomes in the cell's nucleus is not exact
aneuploidy
1st trimester nuchal translucency is associated with
aneuploidy
accumulation of subcutaneous fluid or tissue in the nuchal area
nuchal translucency
causes of nuchal translucency
trisomy 21, 13, 18,



skeletal dysplasia

most accurate transducer for nuchal translucency
endovag
time frame to perform nuchal translucency
between 10-14wks
abnormal measurement for nuchal translucency
>3mm
abnormal measurement for nuchal fold
>6mm
time frame to measure nuchal fold
between 15&21wks
when is the nuchal fold no longer accurate
after 24wks
how to measure nuchal fold
outer edge of occipital bone to the outer edge of the skin
nuchal fold is measure at the level of
in the axial plane at the level of the csp and angling coronally to include the cerebellum and occipital bone
results from a malformation of the lymphatic system at the level of the jugular
cystic hygroma/cavernous lymphangioma
characterized by single or multiple cystic areas within the soft tissue surrounding the neck
cystic hygroma
cystic hygroma assoicated with
edema

fetal hydrops


pleural effusion


ascites


polyhydraminos

cystic hygroma associated with
chromosomal anomalies; turners & down syndrome
___%occur in cervical region
80%
most common neck abnormality, elevated afp
cystic hygroma
1 in ___ pregnancies affected by cystic hygroma
6000
common location for neck teratoma
anterolateral location
may be so large that they obstruct the airway
neck teratoma
referred as neural tube defects
anomalies of the fetal head
occur when the embryonic neural tube fails to close
neural tube defects
most common neural defects
anencephaly and spina bifida
neural tube defects occur 1 in ____pregnancies
1000
causes of neural tube defects
triploidy, trisomies 13& 18, maternal diabetes, seizure medication
what supplement should the mother take during pregnancy to reduce chances of fetal neural tube defects
4mg of folic acid (folate)
how to screen for neural tube defects
sonography, maternal serum screenng, amniocentesis
most helpful portion of maternal serum screening for detecting neural tube defects
msafp
congenital anomaly in which the cerebral hemispheres and overlying skull are entirely absent
anencephaly
caused by failure of closure of the neural tube at the cranial end
anencephaly
besides neural tube defects, when will afp be elevated
presence of gastroschisis

multiple gestations


incorrect dating

afp exits through an opening in the
neural tube
order of afp production
yolk sac, fetal gi tract, then fetal liver
lethal disorder with high levels of afp
anencephaly
prevalence of anencephaly
1 in 1000 in us
anencephaly risk increases with
diabetic mothers
____% of anencephaly occurs as a first time event
90%
___%chance of anencephaly to recurr
4%
anencephaly affects which gender more? what is the ratio?
male, 4:1
which race is affected more ?
white, 6:1 ratio to africans
what country is anencephaly common
united kingdom
how early can anencephaly be dectected via u/s
10-14wks
____can mimic microcephaly
anencephaly
anomalies associated with anencephaly
refer to page 10, slide 57
developmental abnormality characterized by partial or complete absence of cranial vault with protrustion of brain tissue into amniotic cavity
exencephaly (acrania)
unlike anencephaly, brain tissue is always present with this abnormality
exencephaly
poor prognosis, brain tissue appears heterogeneous and disorganized
exencephaly
rare disorder; infant is born with a gap in the skull
cephalocele
outward herniation of CNS contents through a defect in the cranium, vast majority are midline
cephalocele