Module 11: Fetal Face and Neck Flashcards

1
Q

When does embryology start and when is it completed?

A

5 weeks LMP and 10 weeks LMP

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2
Q

What are the 5 main facial processes that move together and fuse?

A
  • 1 nasal frontal process
  • 2 maxillary prominences
  • 2 mandibular prominences.
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3
Q

How does the nasal frontal process move?

A

Starts superior and moves inferiorly

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4
Q

What does the nasal frontal process form and what is the key piece?

A

Mid forehead, nose, central maxilla, anterior palate

Key: Central upper lip

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5
Q

What can sometimes be mistaken for a cleft lip?

A

The philtrum (cupids bow)

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6
Q

How do the maxillary and mandibular prominences move?

A

Medially

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7
Q

What do the maxillary prominences form and what it the key piece? (4)

A

Cheeks, maxilla, hard palate

Key = Lateral aspects of upper lip

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8
Q

What do the mandibular prominences move to form?

A

Move medially and fuse to form mandible

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9
Q

Where does the nose start and where does it move?

A

Starts as 2 nasal placodes above orbits that move med/inf

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10
Q

Where do the eyes start and move?

A

Start laterally and move inwards

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11
Q

Where do the ears start and move?

A

Start below the mandible and move out and up

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12
Q

Facial anomalies occur at what rate?

A

1/600 births

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13
Q

What condition occurs in conjunction with 60% of the facial anomalies and how often are non-facial anomalies also present?

A

Polyhydramnios occurs with 60 % of facial anomalies

50% of the time other non-facial anomalies also occur due to chromosomal abnormalities

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14
Q

What can affect the development of the face? (4)

A

Drugs such as:

Alcohol, codeine, valium, anti-epileptic drugs

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15
Q

In what view do you obtain binocular distance, orbital size, and presence of the hard palate?

A

Axial/trans view through the face

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16
Q

In what plane are you assessing the nose/lip?

A

Tangential coronal (intact upper lip and 2 nostrils seen)

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17
Q

In what plane are you assessing fetus profile?

A

Midline sagittal

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18
Q

What are limiting factors for our images? (2)

A
  • Oligohydramnios

- High maternal BMI

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19
Q

What is OOD and IOD?

What should the IOD equal?

A

OOD = Outer Occular Distance (Distance between outer edges of eyes)

IOD = Inner Occular DIstance (Distance between Inner edges)

IOD should be about the distance of one orbital globe (eyeball)

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20
Q

What can be used to date the pregnancy when the BPD cannot be obtained due to a low head and what sgould the orbits be assessed for?

A

Outer to outer orbital distances

The lens should be seen in orbits to prove the presence of eyeballs

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21
Q

What is anophthalmia?

A

Congenital absence or severe hypoplasia of the eyes

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22
Q

What is anophthalmia associated with?

A

Trisomy 13

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23
Q

What is microphthalmia?

A

Small eyes

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24
Q

How do you measure to ensure you are assessing microphthalmia?

A

Interocular diameter (between eyes)

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25
Q

What is hyperteliorism?

A

Widely spread eyes (inner-ocular meas increased)

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26
Q

What is hyperteliorism most commonly due to?

A

Mass blocking anterior migration (ex: encephalocele)

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27
Q

What is hypoteliorism?

A

Eyes too closely positioned

28
Q

What is hypoteliorism associated with?

A

Trisomy 13

29
Q

What is cyclopia and what often develops?

A

Fusion of eyes into one

Nose as supraorbital proboscis develops

30
Q

What is cyclopia associated with?

A

Trisomy 13

31
Q

What is ethmocephaly?

A

2 closely spaced but separate eyes with a supraorbital proboscis

32
Q

What is cebocephaly?

A

2 closely spaced but separate eyes with a centrally placed nose with only one blind ended nostril

33
Q

What is a proboscis?

A

Instead of a normal nose, a tuft of tissue develops midline above the eyes

34
Q

What is a median cleft face and what is another name?

A

Cleft in the middle of the nose (nasal and maxillary structures fail to fuse)

AKA: Cleft nose

35
Q

What are the 5 lip anomaly patterns?

A
  • Cleft lip alone
  • Unilateral cleft lip and palate
  • Bilateral cleft lip and palate
  • Midline cleft lip and palate
  • Facial defects associated with amniotic band syndrome
36
Q

Clefting occurs in 40% of fetuses with which trisomy?

A

Trisomy 18

37
Q

Clefting occurs in 60% of fetuses with which Trisomy?

A

Trisomy 13

38
Q

The isolated cleft palate is more likely associated with what?

A

Additional anomalies

39
Q

Why is polyhydramnios and a small stomach often seen with clefting?

A

Fetal swallowing can be disturbed

40
Q

What is macroglossia and what is it associated with?

A

Abnormally large protruding tongue

Associated with T21

41
Q

What are sonographic appearances of Beckwith-Wiedemann syndrome? (5)

A
  • Macroglossia
  • Macrosomia (abnormally large fetus)
  • Omphalocele
  • Renal hyperplasia or renal dysplasia
  • Increased risk of developing a Wilm’s tumor and hepatoblastoma
42
Q

What is micrognathia?

A

Abnormally receded chin

43
Q

What is frontal bossing?

A

Abnormally bowed forehead

44
Q

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

A

Trisomy 21, 18, or 13

45
Q

When does the fetal thyroid start to function?

A

12 weeks

46
Q

How does fetal hyperthyroidism or hypothyroidism affect the thyroid and what disease may cause hyperthyroid?

A

Hyper/hypo-thyroidism both enlarge the fetal thyroid

Maternal Graves disease can cause hyperthyroid

47
Q

What may you see on U/S with an enlarged fetal thyroid? (6) and how is it treated?

A
  • Neck mass,
  • Hyperextension of the neck
  • IUGR
  • Oligohydramnios
  • Tachycardia
  • Polyhydramnios if mass is obstructive

Treated in utero with drugs

48
Q

What is considered to be a nuchal cord and how do you assess?

A

Cord looped 2 or more times around the neck

Turn sag to count loops

49
Q

What is a cystic hygroma?

A

Septated nuchal fluid in the neck that is usually of lymphatic origin

50
Q

Why does cystic hygroma develop?

A

Arises due to a failure of the lymph system to communicate with venous system in neck but not ALL cystic hygromas have lymphatic origin

51
Q

Hygromas are often accompanied by what?

A

Hydrops and cardiac abnormalities

52
Q

> 60% of fetuses with cystic hygromas have what?

A

Chromosomal abnormalities (poor prognosis)

53
Q

What syndromes is cystic hygroma associated with? (5)

A
  • Turner’s
  • Downs
  • Noonan
  • Fetal alcohol
  • Death (postmortem effect)
54
Q

At what weeks and CRL is nuchal translucency done?

A

Between 11 and 14 weeks

CRL = 45 - 84 mm

55
Q

What is a normal nuchal translucency measurement and what is abnormally increased associated with?

A

< 3 mm (depending on maternal age)

Increased = trisomy’s

56
Q

What could be mistaken for the nuchal translucency?

A

Hygroma, amniotic membrane

57
Q

When is nuchal fold assessed and what view?

A

Between 16 and 24 weeks

58
Q

What is nuchal fold thickening due to?

A

Subcutaneous edema >6mm

59
Q

What percentage of fetuses with Down’s syndrome have a thick nuchal fold?

A

42%

60
Q

Which plane is used to assess the nuchal fold and nuchal translucency?

A

Nuchal fold = Axial posterior fossa image

Nuchal translucency = perfect midline sag

61
Q

What landmarks must be on the nuchal fold image?

A

CSP anteriorly and cerebellum posteriorly

62
Q

Why do we stop measuring the nuchal fold after 24 weeks?

A

Larger fetuses naturally have a bigger fold

63
Q

Teratomas are composed of what tissue?

A

Endoderm, mesoderm and ectoderm

64
Q

Teratomas may obstruct swallowing causing what?

A

Polyhydramnios

65
Q

What is dystocia?

A

Difficulty giving birth (often associated with fetal teratomas)