study guide test 1 Flashcards
What is the best plane to measure cleft lip and palates?
coronal/axial views
(multiplanar imaging?)
Extensive facial screening can be hindered by what?
patient size, lack of fluid, fetal positioning
(difficulty of displaying the secondary palate
attributed to: shadowing from the primary palate, natural downward curvature of the soft palate?)
What is craniosynostosis?
the premature closure of any or all six of the cranial sutures
causes the fetal cranium to become abnormally shaped
What is a nasal triad and what should it include?
the nasal triad is the view of the nose, lips, and chin
It should include:
nostril symmetry, nasal septum integrity, continuity of the upper lip (to exclude cleft lip and palate)
What is the most common neck mass?
Cystic hygroma colli (lymphatic obstruction)
What is the percentage of cystic hygromas associated with chromosomal anomalies?
about 50%
What is the optimal amount of weeks for an NT measurement?
10-14wks
Proboscis is suggestive of what abnormality?
holoprosencephaly
What is the most common malformation of the face?
cleft lip with or without cleft palate
(midface hypoplasia?)
What are some differential considerations for cystic hygroma?
meningomyelocele, encephalocele, nuchal edema, brachial cleft cyst, cystic teratoma, hemangioma, thyroglossal duct cyst
What term describes a small chin?
micrognathia
What is an elongated forehead in the longitudinal plane and triangular shaped in the axial plane?
trigonocephaly
In what conditions are ear malformations observed?
Goldenhar’s syndrome with anophtalmia (absent eye)
hemifacial microsomia (abnormal smallness of one side of the face)
Robert’s syndrome (small ears)
Nager acrofacial dysostosis syndrome (inadequate development of the ear)
Treacher Collins syndrome
Cleft lip with or without palate is most often seen in what groups?
trisomies 13, 18, and 21
triploidy
translocations
What is a fetal goiter?
thyromegaly
usually appears as a symmetrical (bilobed), solid, homogenous mass arising from the anterior fetal neck in the region of the fetal thyroid gland
How many facial anomalies occur? (1 in how many births)
1 in 600
Which neural defect is a lack of cerebal hemisphere and cranial vault?
anencephaly
What CNS anomaly demonstrates splaying of cerebellar hemispheres?
Dandy-Walker malformation
What condition has complete or partial absence of cranial bones?
acrania
What are some other anomalies that may be associated with anencephaly?
cleft lip and palate, hydronephrosis, diaphragmatic hernia, cardiac defects, omphalocele, gastrointestinal defects, and talipes
What is the most severe form of holoprosencephaly?
alobar
Absence of the cavum septum pellucidi is a distinguishing characteristic of what anomaly?
agenesis of corpus callosum
What facial anomalies are associated with holoprosencephally?
cyclopia, hypotelorism, an absent nose, a flattened nose with a single nostril, proboscis, cebocephaly, ethmocephaly, facial clefts (with median or bilateral clefting)
What characteristics go along with Arnold-Chiari syndrome?
cerebellum is banana shaped, cisterna magna is destroyed
hydrocephalus is present
scalloping of frontal bones (lemon shaped)
fetuses with myelomengoceles often present with ACS
What condition has a posterior fossa cyst and splaying of the cerebellar hemispheres?
Dandy-Walker malformation
What is the congenital absence cerebellar cerebral hemispheres resulting from an occlusion of the carotid arteries?
hydraencephaly
Ventriculomegaly is defined by what measurement of the ventricles?
when diameter of ventricle exceeds 10mm
What open cord spinal defect is characterized by protusion of meninges and spinal cord through the defect?
meningomyelocele
What conditions are commonly associated with fetal hydrocephalus?
ventriculomegaly, Dany-Walker malformation, agenesis of the corpus callosum, lissencephaly, schizencephaly, holoprosencephaly
Ventriculomegaly with enlargement of the head is called?
Hydrocephalus
What is the most common open neural tube defect?
Anencephaly
Which fetal head anomaly is characterized by a single primitive ventricle?
Holoprosencephaly
What is a Vein of Galen malformation?
aneurysm of the vein of Galen
rare arteriovenous malformation
What are the different forms of holoprosencephaly?
alobar-most severe
semilobar-intermediate
lobar-mildest
What is microcephaly?
an abnormally small head that falls 2 standard deviations below the mean
What are some differential considerations for anencephaly?
microcephaly
acrania
cephalocele
cystic hygroma
If we have a herniation of meninges and brain through a calverium defect is called?
meningohydroencephalocele
Differential considerations for Dandy-Walker malformation:
arachnoid cyst
cerebellar hypoplasia
