Fetal Face and Neck Flashcards
When can features of the fetal face be visualized?
end of first trimester
TV beginning late 1st and early 2nd trimester
What is the best view/plane to visualize a cleft lip and palate?
cornonal view
What else is best visualized in the cornonal plane?
maxilla and orbits
The longitudinal view of the face shows what? What is it helpful to rule out?
nasal bone, soft tissue, mandible
rules out micrognathia, anterior encephalocele, nasal bridge defects
What does the transverse view show? What is it useful in evaluating?
shows orbital abnormalities and intraorbital distances
evaluates the maxilla, mandible, and tongue
What questions should a sonographer be asking when evaluating the fetal profile?
are orbits normally spaced; are nose and bridge clearly imaged, is proboscis or cebocephaly present; any periorbital masses apparent; is upper lip intact; is tongue normal size; is chin abnormally small; are ears normal size and in normal position?
How is the forehead visualized on ultrasound? What does it look like?
achieved by series of midsagittal scans through face
appears as curvilinear surface with differentiation of nose, lips, and chin
What does the forehead allow diagnosis of?
anterior cephaloceles (disease may cause widely spaced orbits)
Using midsagittal scans through the face, what should be assessed?
curvilinear surface with differentiation of forehead, nose, lips, and chin
When scanning the face, what may be seen?
clover leaf skull (skeletal displasia), frontal bossing (may appear as lemon-shaped skull or absent, depressed nasal bridge), strawberry shaped cranium (bulging of frontal bones and wide occiput), masses of nose and upper lip (distortion of facial profile - look for cleft lip)
What causes premature closing of sutures? What does is cause?
craniosynostosis
causes fetal cranium to become abnormally shaped
What is a clover leaf skull?
kleeblattschadel
appears ass unusually misshapen skull with clover leaf appearance
What is kleeblattschadel associated with?
numerous skeletal dysplasias and ventriculomegaly
What may trigonocephaly cause?
forehead to have elongated appearance in sagittal plane and appear triangular shaped in axial plane
What does an absent or depressed nasal bone signify?
underdevelopment of middle structures of face
midface hypoplasia may be seen in fetuses with chromosomal abnormalities
What is frontonasal dysplasia?
median-cleft face syndrome consisting of range of midline facial defects involving the eyes, forehead and nose
What abnormalites of frontnasal dysplasia include?
ocular hypertelorism, variable bifid nose, broad nasal bridge, midline defect of frontal bone, extension of frontal hairline to form widows peak
When is nuchal translucency measured?
first trimester - 11 weeks to 13 weeks 6 days
when the CRL is 45-85mm
What is an abnormal measurement of NT? What does it mean?
greater than 3mm
the greater the NT, the greater the risk of chromosomal anomaly
What is macroglossia? What may suggest this?
large tongue
tongue protrusion
What may be a condition found in Beckwith:Wiedemann syndrome? What is this syndrome?
macroglossia
metabolic disorder - organomegaly (liver, tongue, heart, spleen) is featured
Describe congeital micrognathia.
very small mandible
should be suspected with small chin is observed
With what anomalies can congenital micrognathia be seen?
in chromosomal anomalies (18 most common), skeletal dysplasias, primary mandibular disorders (pierre robin syndrome)
Can malformations be seen of the ears with ultrasound?
rarely predicted prenataly
low set ears may be appreciated in long or coronal view
placement of ear appears lower in many craniofacial malformations and syndromes
What must the sonographer do when imaging the fetal eyes?
must document the presence of both eyes and assess the overall size of the eyes to exclude microphthalmia (small eyes) and anophthalmia (absent eyes)
What may be reported of the orbits?
periorbital masses, such as lacrimal duct cysts (dacryocysticeles), dermoids, and hemangiomas
What also may be seen within the eye on US?
echogenic eye
=artery
What is characterized by decreased distance between orbits?
hypotelorism
What syndromes may hypotelorism be associated with?
holoprosencephaly (most common; abnormal brain development), microcephaly (small brain/head), craniosynostose (early suture closure), and phenylketonuria (inherited metabolic disorder)
Obvious hypotelorism will be seen in what?
ethmocephaly (prominent disorder of midline face) and cebocephaly (one nostril)
When hypotelorism is severe, what may it be seen as?
so severe that a single orbit is demonstrated with fused or single eye, as seen in cyclopia
What may be seen with hypotelorism?
ethmocephaly proboscis
trunk-like growth between eyes, absent eyes, lips not prominent
What is hypertelorism?
abnormally wide-spaced eyes
found in several abnormal fetal conditions, genetic syndromes, and chromosomal anomalies
What may be seen with hypertelorism?
anterior encephalocele
In what ways can a sonographer see the nose, maxilla, lips, and palate? What is the best way to view?
by placing transducer in a lateral coronal plane, sagittal profile place, modified tangential maxillary view, and modified coronal view
BEST: coronal plane
What is the most common congenital anomaly of the face?
cleft lip (with or without cleft palate)
What is the range of the defect of cleft lip?
from clefting of lip alone to involvement of hard and soft palate
may extend into nose and in rare cases to inferior border of orbit
may be unilateral or bilateral
Does cleft lip occur only with other abnormalities?
occur in isolation or in association with other anatomic and karyotype abnormalities
isolate posterior cleft palate is recognized as distinct entity
List the top three most common congenital anamalies.
1-club foot
2-cleft lip
3-cleft palate
What are risk factors for cleft lip and palate?
alcohol and nicotine abuse, excessive use of vitamin A, and some viral infections (rubela)
If the lip is cleft, what is also common to be present?
cleft palate
What is the etiology of cleft palate (lip?)
highest ethnicity is asian and native americans (1:450)
lowest ethnicity is african americans
isolated cleft palate is more common in females
What is the sonographic appearance of cleft lip/palate?
will have swirling pattern on color doppler
What is the function of the hard and soft palate?
hard palate (maxilla and palatine bones) is the roof of mouth; seperates the oral and nasal cavities soft palate involves formation of sound and plays a huge role in speech
Describe the treatment of cleft palate.
surgeons try to wait until baby is 5 years old - when the face stops growing; for speech to develop normally, surgeons now like to do it when baby is 10 months old; if there is only a small defect, surgery can be done at 3 months old
Describe the three differnt types of clefts.
median cleft lip: caused by incomplete merging of the two medial nasal prominences in the midline
oblique facial cleft: failure of maxillary prominence to merge with the lateral nasal swelling, with exposure of the nasolacrimal duct
complete bilateral cleft lip and palate: large gap in upper lip on modified coronal view; nose is flattened and widened; a premaxillary mass may be present
With a normal fetus, what behavioral patterns may they exhibit?
swallowing, protrusion and retrusion of tongue, and hiccoughing
What is epignathus?
teratoma located in oropharynx
What will epignathus look like sonographically?
masses may be highly complex and contain solid, cystic, and calcified components
swallowing may be impaired, resultings in hydramnios
small stomach may be present (due to impaired swallowing)
What is the most common neck mass?
cystic hygroma colli
What is a cystic hygroma?
results from malformation of lymphatic system that leads to single or multiloculated lymph filled cavities around the neck
failure of lymphatic system to properly connect venous system results in distention of jugular lymph sacs and accumulation of lymph in fetal tissue
What percentage of cystic hygromas are involved in the neck?
70%
usually arise from posterior of neck bilaterally
more rarely may arise from anterior or lateral surface
up to 20% invovle axillae
What can cystic hygromas cause?
can cause fetal hydrops, which causes CHF, which will result in fetal death
What is the sonographic appearance of a cystic hygroma?
isolated small cystic cavities (with/out septations), 50% associated with chromosomal anomalies, may be small and regress, webbing of neck and swelling of extremities may be appreciated after birth
What is the sonographic appearance of a teratoma?
usually unilateral and anterior, complex sonographic patterns
What is a brachial cleft cyst?
congenital birth defect that occurs early in embryonic development
arises on the lateral part of the neck from a failure of obliteration of the second brachial cleft in embryonic development
A brachial cleft cyst may appear as what? Describe each.
cysts, sinuses or fistulas
cysts: fluid filled lumps under skin
sinuses: small passageways that may have an opening into the skin or the back of mouth
fistula: communication between the small skin opening and one in the back of the mouth
