Fetal Face and Neck Flashcards

1
Q

When can features of the fetal face be visualized?

A

end of first trimester

TV beginning late 1st and early 2nd trimester

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2
Q

What is the best view/plane to visualize a cleft lip and palate?

A

cornonal view

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3
Q

What else is best visualized in the cornonal plane?

A

maxilla and orbits

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4
Q

The longitudinal view of the face shows what? What is it helpful to rule out?

A

nasal bone, soft tissue, mandible

rules out micrognathia, anterior encephalocele, nasal bridge defects

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5
Q

What does the transverse view show? What is it useful in evaluating?

A

shows orbital abnormalities and intraorbital distances

evaluates the maxilla, mandible, and tongue

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6
Q

What questions should a sonographer be asking when evaluating the fetal profile?

A

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?

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7
Q

How is the forehead visualized on ultrasound? What does it look like?

A

achieved by series of midsagittal scans through face

appears as curvilinear surface with differentiation of nose, lips, and chin

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8
Q

What does the forehead allow diagnosis of?

A
anterior cephaloceles
(disease may cause widely spaced orbits)
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9
Q

Using midsagittal scans through the face, what should be assessed?

A

curvilinear surface with differentiation of forehead, nose, lips, and chin

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10
Q

When scanning the face, what may be seen?

A

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)

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11
Q

What causes premature closing of sutures? What does is cause?

A

craniosynostosis

causes fetal cranium to become abnormally shaped

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12
Q

What is a clover leaf skull?

A

kleeblattschadel

appears ass unusually misshapen skull with clover leaf appearance

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13
Q

What is kleeblattschadel associated with?

A

numerous skeletal dysplasias and ventriculomegaly

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14
Q

What may trigonocephaly cause?

A

forehead to have elongated appearance in sagittal plane and appear triangular shaped in axial plane

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15
Q

What does an absent or depressed nasal bone signify?

A

underdevelopment of middle structures of face

midface hypoplasia may be seen in fetuses with chromosomal abnormalities

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16
Q

What is frontonasal dysplasia?

A

median-cleft face syndrome consisting of range of midline facial defects involving the eyes, forehead and nose

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17
Q

What abnormalites of frontnasal dysplasia include?

A

ocular hypertelorism, variable bifid nose, broad nasal bridge, midline defect of frontal bone, extension of frontal hairline to form widows peak

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18
Q

When is nuchal translucency measured?

A

first trimester - 11 weeks to 13 weeks 6 days

when the CRL is 45-85mm

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19
Q

What is an abnormal measurement of NT? What does it mean?

A

greater than 3mm

the greater the NT, the greater the risk of chromosomal anomaly

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20
Q

What is macroglossia? What may suggest this?

A

large tongue

tongue protrusion

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21
Q

What may be a condition found in Beckwith:Wiedemann syndrome? What is this syndrome?

A

macroglossia

metabolic disorder - organomegaly (liver, tongue, heart, spleen) is featured

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22
Q

Describe congeital micrognathia.

A

very small mandible

should be suspected with small chin is observed

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23
Q

With what anomalies can congenital micrognathia be seen?

A

in chromosomal anomalies (18 most common), skeletal dysplasias, primary mandibular disorders (pierre robin syndrome)

24
Q

Can malformations be seen of the ears with ultrasound?

A

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

25
Q

What must the sonographer do when imaging the fetal eyes?

A

must document the presence of both eyes and assess the overall size of the eyes to exclude microphthalmia (small eyes) and anophthalmia (absent eyes)

26
Q

What may be reported of the orbits?

A

periorbital masses, such as lacrimal duct cysts (dacryocysticeles), dermoids, and hemangiomas

27
Q

What also may be seen within the eye on US?

A

echogenic eye

=artery

28
Q

What is characterized by decreased distance between orbits?

A

hypotelorism

29
Q

What syndromes may hypotelorism be associated with?

A

holoprosencephaly (most common; abnormal brain development), microcephaly (small brain/head), craniosynostose (early suture closure), and phenylketonuria (inherited metabolic disorder)

30
Q

Obvious hypotelorism will be seen in what?

A

ethmocephaly (prominent disorder of midline face) and cebocephaly (one nostril)

31
Q

When hypotelorism is severe, what may it be seen as?

A

so severe that a single orbit is demonstrated with fused or single eye, as seen in cyclopia

32
Q

What may be seen with hypotelorism?

A

ethmocephaly proboscis

trunk-like growth between eyes, absent eyes, lips not prominent

33
Q

What is hypertelorism?

A

abnormally wide-spaced eyes

found in several abnormal fetal conditions, genetic syndromes, and chromosomal anomalies

34
Q

What may be seen with hypertelorism?

A

anterior encephalocele

35
Q

In what ways can a sonographer see the nose, maxilla, lips, and palate? What is the best way to view?

A

by placing transducer in a lateral coronal plane, sagittal profile place, modified tangential maxillary view, and modified coronal view
BEST: coronal plane

36
Q

What is the most common congenital anomaly of the face?

A

cleft lip (with or without cleft palate)

37
Q

What is the range of the defect of cleft lip?

A

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

38
Q

Does cleft lip occur only with other abnormalities?

A

occur in isolation or in association with other anatomic and karyotype abnormalities
isolate posterior cleft palate is recognized as distinct entity

39
Q

List the top three most common congenital anamalies.

A

1-club foot
2-cleft lip
3-cleft palate

40
Q

What are risk factors for cleft lip and palate?

A

alcohol and nicotine abuse, excessive use of vitamin A, and some viral infections (rubela)

41
Q

If the lip is cleft, what is also common to be present?

A

cleft palate

42
Q

What is the etiology of cleft palate (lip?)

A

highest ethnicity is asian and native americans (1:450)
lowest ethnicity is african americans
isolated cleft palate is more common in females

43
Q

What is the sonographic appearance of cleft lip/palate?

A

will have swirling pattern on color doppler

44
Q

What is the function of the hard and soft palate?

A
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
45
Q

Describe the treatment of cleft palate.

A

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

46
Q

Describe the three differnt types of clefts.

A

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

47
Q

With a normal fetus, what behavioral patterns may they exhibit?

A

swallowing, protrusion and retrusion of tongue, and hiccoughing

48
Q

What is epignathus?

A

teratoma located in oropharynx

49
Q

What will epignathus look like sonographically?

A

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)

50
Q

What is the most common neck mass?

A

cystic hygroma colli

51
Q

What is a cystic hygroma?

A

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

52
Q

What percentage of cystic hygromas are involved in the neck?

A

70%
usually arise from posterior of neck bilaterally
more rarely may arise from anterior or lateral surface
up to 20% invovle axillae

53
Q

What can cystic hygromas cause?

A

can cause fetal hydrops, which causes CHF, which will result in fetal death

54
Q

What is the sonographic appearance of a cystic hygroma?

A

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

55
Q

What is the sonographic appearance of a teratoma?

A

usually unilateral and anterior, complex sonographic patterns

56
Q

What is a brachial cleft cyst?

A

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

57
Q

A brachial cleft cyst may appear as what? Describe each.

A

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