Fetal Face And Neck Flashcards

1
Q

What re some abnormalities of the fetal face? 6

A
  1. Cleft lip
  2. Cleft palate
  3. Micrognathia
  4. Neck
  5. Nuchal translucency
  6. Nuchal fold
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2
Q

Fetal face embryology starts when? When is it finished?

A

5 weeks LMP and is complete 10 weeks LMP

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3
Q

What develops during fetal face embryology ? 3

A

Develops from five main facial processes that move together and fuse
1. 1 Frontonasal process
2. 2 Maxillary prominence
3. 2 Mandibular prominences

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4
Q

The frontonasal process starts where? And moves where? What does it form? 5

A

Starts superior and moves Inferiorly to form
1. Mid forehead
2. Nose
3. Central upper lip
4. Central maxilla
5. Anterior palate

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5
Q

Maxillary prominence move medially to form what? 4

A
  1. Checks
  2. Lateral upper lip
  3. Maxilla
  4. Hard palate
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6
Q

In terms of formation, the nose starts where and migrates how?

A

The nose starts above the orbits as 2 widely spread nasal placodes that move medially Inferiorly

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7
Q

What are placodes?

A

Areas of ectoderm tissues which form the sense organs - auditory, olfactory, or vision

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8
Q

The eyes start where and move how?

A

Laterally and move medially

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9
Q

The ears start where and move where?

A

Ears start below the mandible and move laterally upward

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10
Q

What is the occurrence rate of facial anomalies?

A

1/600 births

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11
Q

How common are facial anomalies?

A

Common

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12
Q

Polyhydraminos occurs with how many facial anomalies?

A

60% of the facial anomalies

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13
Q

How often does other non -facial anomalies occur due to chromosomal abnormalities?

A

50%

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14
Q

What increases the risk of development of the face? 3

A

Drugs such as
1. Alcohol
2. Codeine
3. Valium

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15
Q

What doe we see with axial view of the face? why? 3

A
  1. Orbits
  2. Lens of the eye
  3. To assess binocular distance
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16
Q

What’s the nose/lip shot?

A

Tangential coronal of nose lip

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17
Q

What are some tips for Nose/lip? 3 (What do we need to assess?)

A
  1. Make sure you have the soft tissue of the nose and lip rather than bone
  2. Assess for intact upper lip
  3. Assess for the presence of 2 nostrils
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18
Q

How do we get a profile image?

A

Ultrasound beam directly over the midline of the face

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19
Q

What are some things that we should see with the profile view? 3

A
  1. Chin should be off of chest
  2. Should see nasal bone and maxilla
  3. Midline structures of the brain (Corpos callosum)
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20
Q

What are some things we assess with the profile view? 3

A
  1. Prominence of the chin and forehead
  2. Protruding tongue or flattened nose
  3. Nasal bone
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21
Q

What is a benefit of 3D imaging for parents/

A

Gives parents an idea of what to expect at delivery

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22
Q

How can 3D imaging be used for in terms of detection?

A

For better detecting facial anomalies after 2D

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23
Q

Orbits should be separated by a distance of how much?

A

Orbit globe (1 eyeball)

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24
Q

Outer orbital distances can be used to do what?

A

Date the pregnancy when the BPD can not be obtained. Low head.

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25
Q

What is anophthalmia?

A

Congenital absence or severe hypoplasia of the eyes

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26
Q

What do we need to look for to confirm anophhtalmia?

A

Look for lens

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27
Q

Who is most affected by anophthalmia? (demographic)

A

T13 babies

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28
Q

What is Microphthalmia?

A

Small eyes

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29
Q

What do we need to diagnose microphthalmia?

A

Interocular measurments

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30
Q

Who is affected by microphthalmia?

A

T13 babies

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31
Q

What is hypertelorism?

A

Widely spread eyes

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32
Q

Hypertelorism is most commonly due to what?

A

Mass blocking anterior migration

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33
Q

Hypertelorism is less commonly due to what?

A

Craniosynostoses

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34
Q

What is hypotelorism?

A

eyes close together

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35
Q

What kind of measurement do we have with hypotelorism?

A

Binocular measurement

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36
Q

Who is affected by hypotelorism?

A

T13 babies

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37
Q

What is cyclonic?

A

Fusion of eyes into one orbit

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38
Q

What is cyclonic typically seen with?

A

With nose as supraorbitial proboscis?

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39
Q

Who is affected by cyclopia?

A

13

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40
Q

What is ethmocephaly?

A

2 closely spaced but separate eyes with supraorbital proboscis

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41
Q

What is cebocephaly?

A

2 closely spaced by separate eyes with a central placed nose with only one blind needed nostril

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42
Q

What is a proboscis?

A

Tuft of tissue, usually above the eyes.

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43
Q

What is seen with proboscis?

A

Absence of a normal nose

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44
Q

What are five patterns of cleft lip and palate? One extra. 6

A
  1. Cleft lip alone
  2. Unilateral cleft lip and palate
  3. Bilateral cleft lip and palate
  4. Midline cleft lip and palate
  5. Cleft palate alone
  6. Facial defects associated with amniotic bands
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45
Q

What is the occurrence rate of clefting with T18?

A

40%

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46
Q

What is the occurrence rate of clefting in t13?

A

60%

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47
Q

Isolated cleft palate is more likely to be associated with what?

A

Additional anomalies

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48
Q

How easy is it to see cleft palate on u/s?

A

Difficult

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49
Q

Polyhydraminos and small stomach are often seen because of what?

A

clefting defect which can disturb fetal swallowing

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50
Q

If you are having a difficult time catching the soft tissue, what do we need to do?

A

Look very carefully, this baby may have bilateral cleft lip

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51
Q

When looking for a cleft lip we need to be careful not to do what?

A

Confuse not to confuse philtrum with cleft lip

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52
Q

Where is the median cleft face located?

A

Middle of the nose

53
Q

What is medial cleft face?

A

Nasal and maxillary structures fail to fuse, also cleft nose.

54
Q

Which is more difficult to see, Cleft palate or Cleft lip?

A

Cleft palate

55
Q

What is the view we need to use to catch cleft palate?

A

TRX around tooth buds

56
Q

It is very easy to create cleft palate if you are doing what?

A

Scanning in the oral cavity or ethmoid sinuses

57
Q

What is marcroglossia?

A

Abnormally large protruding tongue beyond the lips

58
Q

What chromosomal anomaly is macroglossia assocaited with?

A

T21

59
Q

What S/S of Beckwith- wiedemann syndrome? 4

A
  1. Macroglossia
  2. Macrosomia
  3. Omphalocele
  4. Renal hyperplasia or renal dysplasia
60
Q

Beckwith-wiedemann syndrome has an increased risk of developing what? 2

A
  1. Wilms tumor
  2. Hepatoblastoma
61
Q

What is Micrognathia?

A

Mandibular hypoplasia

62
Q

What are some features we see with Micrognathia? 2

A
  1. Lower jaw smaller than usual
  2. Small chin
63
Q

If the ears are placed low or small, it can be associated with what? 3

A
  1. T21
  2. T18
  3. T13
64
Q

Fetal thyroid starts to function @ how many weeks?

A

12 weeks

65
Q

Can the fetus have hyperthyroidism and hypothyroidism?

A

Yes

66
Q

Hyperthyroidism and hypothyroidism does what to the thyroid?

A

Enlarges it

67
Q

Maternal Graves’ disease can cause what?

A

Hyperthyroid in fetus

68
Q

Can we see a neck mass on u/s?

A

Yes

69
Q

A mass in the fetal neck may cause what?

A

Fetal neck to hyperextend

70
Q

What can happen as a result of a fetal mass in the neck? (s/s)

A

Polyhydraminos

71
Q

Fetal thyroid dysfunction can lead to what? 3

A
  1. IUGR
  2. Oligiohydramnios
  3. Tachycardia
72
Q

Treatment of the thyroid can be done when?

A

In utero with thyroid medication administered to the mother

73
Q

What is a nuchal cord?

A

Umbilical cord looped 2 or more times around neck

74
Q

What is cystic hygroma?

A

Septated nuchal fluid

75
Q

Cystic hygroma usually consists of what?

A

Multiocular lymphatic fluid lined by lymphatic endothelium

76
Q

Cystic hygroma is thought to arise due to what?

A

Failure of the lymphatic system to develop a communication to the Venous system of the neck

77
Q

Not all cystic hygromas have what kind of origin?

A

Lymphatic

78
Q

Cystic hygromas are often accompanied by what? 2

A
  1. Hydrops
  2. Cardiac abnormalities
79
Q

> 60% of fetuses with cystic hygromas have what?

A

Chromosomal abnormalities

80
Q

What are some chromosomal anomalies that are associated with cystic hygroma? 3

A
  1. Turner’s syndrome
  2. Down’s syndrome
  3. Noonan Syndrome
81
Q

What is a non chromosomal syndrome that is a associated with cystic hygroma?

A

Fetal alcohol syndrome

82
Q

When can cystic hygroma be seen as?

A

Postmortem effect

83
Q

What does cystic hygroma look like on u/s?

A

Hypoechoic fluid collection with random septations

84
Q

How early can cystic hygromas be seen on u/s?

A

10 weeks but should not be mistaken with nuchal translucency

85
Q

What is the DDX of cystic hygroma?

A

Posterior encephalocele, however, the brain, skull, and spine are normal with cystic hygroma

86
Q

When is nuchal translucency seen?

A

Between 11w - 13w 6d gestation

87
Q

What is the CRL of nuchal translucency values?

A

45- 84mm

88
Q

What is the normal values of nuchal translucency?

A

Depends on the maternal age

89
Q

What is nuchal translucency used for?

A

Screening for increasing or decreasing first of chromosomal abnormalities

90
Q

Increased nuchal translucency is associated with what?

A

Aneuploidy and other fetal abnormalities

91
Q

When is nuchal fold thickening assessed?

A

Between 16-22 weeks as port of a routine 2nd trimester detailed assessment

92
Q

What is nuchal fold thickening due to?

A

Subcutaneous edema

93
Q

What is considered abnormal for nuchal fold thickening?

A

> 6mm

94
Q

What has a high association with nuchal fold thickening?

A

T21

95
Q

42% of fetus with Down syndrome have a thick what?

A

Nuchal fold

96
Q

What does a teratoma look like?

A

Solid/ complex mass

97
Q

If the teratoma is large what happens to the fetal neck?

A

Hyperextension

98
Q

Label

A
99
Q

Label

A
100
Q

What does this image represent?

A

The migration of the nose, eyes and ears

101
Q

Which plane is used to assess the nuchal fold?

A

BPD

102
Q

What are some landmarks we see when we look for a nuchal fold?

A

CSP, Falx, peduncles

103
Q

Teratomas may obstruct swelling causing what?

A

Polyhydraminos

104
Q

What is the views being identified?

A
  1. Nose bone
  2. Maxilla
105
Q

What does this profile image focus on?

A
  1. Assessing the prominence of the chin and forehead
  2. Assess from protruding tongue or a flattened nose
  3. Assess for nasal bone
106
Q

What does this image represent?

A

Hypoplastic nasal bone

107
Q

What does this image represent?

A

Hypoplastic nasal bone

108
Q

What does this image represent?

A

Retronasal triangle

109
Q

What does this image represent?

A

No nasal bone

110
Q

What does this image represent?

A

Coronal face

111
Q

What does this image represent?

A

Orbital measurements

112
Q

What does this image represent?

A

Normal vs IOD abnormal

113
Q

What does this image represent?

A

Hypotelorism

114
Q

What does this image represent?

A

Ethmocephaly vs cebocephaly

115
Q

Label

A
116
Q

What does this image represent?

A

Normal nose/ lip and cleft lip

117
Q

What does this image represent?

A

Bilateral cleft lip

118
Q

What does this image represent?

A

Median cleft face

119
Q

What does this image represent?

A

Beckwith - wiedemann syndrome

120
Q

What does this image represent?

A

Tongue mass

121
Q

What does this image represent?

A

Micrognathia vs retrognathia

122
Q

What does this image represent?

A

Frontal bossing

123
Q

What does this image represent?

A
  1. Normal
  2. Pseudo low set ears
  3. True low set ears
124
Q

What does this image represent?

A

Nuchal cord

125
Q

What does this image represent?

A

Nuchal cord

126
Q

What does this image represent?

A

Normal vs abnormal lymphatic drainage

127
Q

What does this image represent?

A

Nuchal translucency

128
Q

What does this image represent?

A

Nuchal fold