Module 11: Fetal Face and Neck

Question 1

When does embryology start and when is it completed?

Answer 1

5 weeks LMP and 10 weeks LMP

Question 2

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

Answer 2

• 1 nasal frontal process
• 2 maxillary prominences
• 2 mandibular prominences.

Question 3

How does the nasal frontal process move?

Answer 3

Starts superior and moves inferiorly

Question 4

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

Answer 4

Mid forehead, nose, central maxilla, anterior palate

Key: Central upper lip

Question 5

What can sometimes be mistaken for a cleft lip?

Answer 5

The philtrum (cupids bow)

Question 6

How do the maxillary and mandibular prominences move?

Answer 6

Medially

Question 7

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

Answer 7

Cheeks, maxilla, hard palate

Key = Lateral aspects of upper lip

Question 8

What do the mandibular prominences move to form?

Answer 8

Move medially and fuse to form mandible

Question 9

Where does the nose start and where does it move?

Answer 9

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

Question 10

Where do the eyes start and move?

Answer 10

Start laterally and move inwards

Question 11

Where do the ears start and move?

Answer 11

Start below the mandible and move out and up

Question 12

Facial anomalies occur at what rate?

Answer 12

1/600 births

Question 13

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

Answer 13

Polyhydramnios occurs with 60 % of facial anomalies

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

Question 14

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

Answer 14

Drugs such as:

Alcohol, codeine, valium, anti-epileptic drugs

Question 15

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

Answer 15

Axial/trans view through the face

Question 16

In what plane are you assessing the nose/lip?

Answer 16

Tangential coronal (intact upper lip and 2 nostrils seen)

Question 17

In what plane are you assessing fetus profile?

Answer 17

Midline sagittal

Question 18

What are limiting factors for our images? (2)

Answer 18

• Oligohydramnios

- High maternal BMI

Question 19

What is OOD and IOD?

What should the IOD equal?

Answer 19

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)

Question 20

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?

Answer 20

Outer to outer orbital distances

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

Question 21

What is anophthalmia?

Answer 21

Congenital absence or severe hypoplasia of the eyes

Question 22

What is anophthalmia associated with?

Answer 22

Trisomy 13

Question 23

What is microphthalmia?

Answer 23

Small eyes

Question 24

How do you measure to ensure you are assessing microphthalmia?

Answer 24

Interocular diameter (between eyes)

Question 25

What is hyperteliorism?

Answer 25

Widely spread eyes (inner-ocular meas increased)

Question 26

What is hyperteliorism most commonly due to?

Answer 26

Mass blocking anterior migration (ex: encephalocele)

Question 27

What is hypoteliorism?

Answer 27

Eyes too closely positioned

Question 28

What is hypoteliorism associated with?

Answer 28

Trisomy 13

Question 29

What is cyclopia and what often develops?

Answer 29

Fusion of eyes into one Nose as supraorbital proboscis develops

Question 30

What is cyclopia associated with?

Answer 30

Trisomy 13

Question 31

What is ethmocephaly?

Answer 31

2 closely spaced but separate eyes with a supraorbital proboscis

Question 32

What is cebocephaly?

Answer 32

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

Question 33

What is a proboscis?

Answer 33

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

Question 34

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

Answer 34

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

Question 35

What are the 5 lip anomaly patterns?

Answer 35

- 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

Question 36

Clefting occurs in 40% of fetuses with which trisomy?

Answer 36

Trisomy 18

Question 37

Clefting occurs in 60% of fetuses with which Trisomy?

Answer 37

Trisomy 13

Question 38

The isolated cleft palate is more likely associated with what?

Answer 38

Additional anomalies

Question 39

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

Answer 39

Fetal swallowing can be disturbed

Question 40

What is macroglossia and what is it associated with?

Answer 40

Abnormally large protruding tongue Associated with T21

Question 41

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

Answer 41

- Macroglossia - Macrosomia (abnormally large fetus) - Omphalocele - Renal hyperplasia or renal dysplasia - Increased risk of developing a Wilm's tumor and hepatoblastoma

Question 42

What is micrognathia?

Answer 42

Abnormally receded chin

Question 43

What is frontal bossing?

Answer 43

Abnormally bowed forehead

Question 44

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

Answer 44

Trisomy 21, 18, or 13

Question 45

When does the fetal thyroid start to function?

Answer 45

12 weeks

Question 46

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

Answer 46

Hyper/hypo-thyroidism both enlarge the fetal thyroid Maternal Graves disease can cause hyperthyroid

Question 47

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

Answer 47

- Neck mass, - Hyperextension of the neck - IUGR - Oligohydramnios - Tachycardia - Polyhydramnios if mass is obstructive Treated in utero with drugs

Question 48

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

Answer 48

Cord looped 2 or more times around the neck Turn sag to count loops

Question 49

What is a cystic hygroma?

Answer 49

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

Question 50

Why does cystic hygroma develop?

Answer 50

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

Question 51

Hygromas are often accompanied by what?

Answer 51

Hydrops and cardiac abnormalities

Question 52

>60% of fetuses with cystic hygromas have what?

Answer 52

Chromosomal abnormalities (poor prognosis)

Question 53

What syndromes is cystic hygroma associated with? (5)

Answer 53

- Turner's - Downs - Noonan - Fetal alcohol - Death (postmortem effect)

Question 54

At what weeks and CRL is nuchal translucency done?

Answer 54

Between 11 and 14 weeks CRL = 45 - 84 mm

Question 55

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

Answer 55

< 3 mm (depending on maternal age) Increased = trisomy's

Question 56

What could be mistaken for the nuchal translucency?

Answer 56

Hygroma, amniotic membrane

Question 57

When is nuchal fold assessed and what view?

Answer 57

Between 16 and 24 weeks

Question 58

What is nuchal fold thickening due to?

Answer 58

Subcutaneous edema >6mm

Question 59

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

Answer 59

42%

Question 60

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

Answer 60

Nuchal fold = Axial posterior fossa image Nuchal translucency = perfect midline sag

Question 61

What landmarks must be on the nuchal fold image?

Answer 61

CSP anteriorly and cerebellum posteriorly

Question 62

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

Answer 62

Larger fetuses naturally have a bigger fold

Question 63

Teratomas are composed of what tissue?

Answer 63

Endoderm, mesoderm and ectoderm

Question 64

Teratomas may obstruct swallowing causing what?

Answer 64

Polyhydramnios

Question 65

What is dystocia?

Answer 65

Difficulty giving birth (often associated with fetal teratomas)