Fetal Face and Neck

Question 1

When can features of the fetal face be visualized?

Answer 1

end of first trimester

TV beginning late 1st and early 2nd trimester

Question 2

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

Answer 2

cornonal view

Question 3

What else is best visualized in the cornonal plane?

Answer 3

maxilla and orbits

Question 4

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

Answer 4

nasal bone, soft tissue, mandible

rules out micrognathia, anterior encephalocele, nasal bridge defects

Question 5

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

Answer 5

shows orbital abnormalities and intraorbital distances

evaluates the maxilla, mandible, and tongue

Question 6

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

Answer 6

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?

Question 7

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

Answer 7

achieved by series of midsagittal scans through face

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

Question 8

What does the forehead allow diagnosis of?

Answer 8

anterior cephaloceles
(disease may cause widely spaced orbits)

Question 9

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

Answer 9

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

Question 10

When scanning the face, what may be seen?

Answer 10

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)

Question 11

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

Answer 11

craniosynostosis

causes fetal cranium to become abnormally shaped

Question 12

What is a clover leaf skull?

Answer 12

kleeblattschadel

appears ass unusually misshapen skull with clover leaf appearance

Question 13

What is kleeblattschadel associated with?

Answer 13

numerous skeletal dysplasias and ventriculomegaly

Question 14

What may trigonocephaly cause?

Answer 14

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

Question 15

What does an absent or depressed nasal bone signify?

Answer 15

underdevelopment of middle structures of face

midface hypoplasia may be seen in fetuses with chromosomal abnormalities

Question 16

What is frontonasal dysplasia?

Answer 16

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

Question 17

What abnormalites of frontnasal dysplasia include?

Answer 17

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

Question 18

When is nuchal translucency measured?

Answer 18

first trimester - 11 weeks to 13 weeks 6 days

when the CRL is 45-85mm

Question 19

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

Answer 19

greater than 3mm

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

Question 20

What is macroglossia? What may suggest this?

Answer 20

large tongue

tongue protrusion

Question 21

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

Answer 21

macroglossia

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

Question 22

Describe congeital micrognathia.

Answer 22

very small mandible

should be suspected with small chin is observed

Question 23

With what anomalies can congenital micrognathia be seen?

Answer 23

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

Question 24

Can malformations be seen of the ears with ultrasound?

Answer 24

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

Question 25

What must the sonographer do when imaging the fetal eyes?

Answer 25

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

Question 26

What may be reported of the orbits?

Answer 26

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

Question 27

What also may be seen within the eye on US?

Answer 27

echogenic eye | =artery

Question 28

What is characterized by decreased distance between orbits?

Answer 28

hypotelorism

Question 29

What syndromes may hypotelorism be associated with?

Answer 29

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

Question 30

Obvious hypotelorism will be seen in what?

Answer 30

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

Question 31

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

Answer 31

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

Question 32

What may be seen with hypotelorism?

Answer 32

ethmocephaly proboscis | trunk-like growth between eyes, absent eyes, lips not prominent

Question 33

What is hypertelorism?

Answer 33

abnormally wide-spaced eyes | found in several abnormal fetal conditions, genetic syndromes, and chromosomal anomalies

Question 34

What may be seen with hypertelorism?

Answer 34

anterior encephalocele

Question 35

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

Answer 35

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

Question 36

What is the most common congenital anomaly of the face?

Answer 36

cleft lip (with or without cleft palate)

Question 37

What is the range of the defect of cleft lip?

Answer 37

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

Question 38

Does cleft lip occur only with other abnormalities?

Answer 38

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

Question 39

List the top three most common congenital anamalies.

Answer 39

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

Question 40

What are risk factors for cleft lip and palate?

Answer 40

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

Question 41

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

Answer 41

cleft palate

Question 42

What is the etiology of cleft palate (lip?)

Answer 42

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

Question 43

What is the sonographic appearance of cleft lip/palate?

Answer 43

will have swirling pattern on color doppler

Question 44

What is the function of the hard and soft palate?

Answer 44

``` 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 ```

Question 45

Describe the treatment of cleft palate.

Answer 45

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

Question 46

Describe the three differnt types of clefts.

Answer 46

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

Question 47

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

Answer 47

swallowing, protrusion and retrusion of tongue, and hiccoughing

Question 48

What is epignathus?

Answer 48

teratoma located in oropharynx

Question 49

What will epignathus look like sonographically?

Answer 49

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)

Question 50

What is the most common neck mass?

Answer 50

cystic hygroma colli

Question 51

What is a cystic hygroma?

Answer 51

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

Question 52

What percentage of cystic hygromas are involved in the neck?

Answer 52

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

Question 53

What can cystic hygromas cause?

Answer 53

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

Question 54

What is the sonographic appearance of a cystic hygroma?

Answer 54

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

Question 55

What is the sonographic appearance of a teratoma?

Answer 55

usually unilateral and anterior, complex sonographic patterns

Question 56

What is a brachial cleft cyst?

Answer 56

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

Question 57

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

Answer 57

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