Fetal Face And Neck Flashcards
What re some abnormalities of the fetal face? 6
- Cleft lip
- Cleft palate
- Micrognathia
- Neck
- Nuchal translucency
- Nuchal fold
Fetal face embryology starts when? When is it finished?
5 weeks LMP and is complete 10 weeks LMP
What develops during fetal face embryology ? 3
Develops from five main facial processes that move together and fuse
1. 1 Frontonasal process
2. 2 Maxillary prominence
3. 2 Mandibular prominences
The frontonasal process starts where? And moves where? What does it form? 5
Starts superior and moves Inferiorly to form
1. Mid forehead
2. Nose
3. Central upper lip
4. Central maxilla
5. Anterior palate
Maxillary prominence move medially to form what? 4
- Checks
- Lateral upper lip
- Maxilla
- Hard palate
In terms of formation, the nose starts where and migrates how?
The nose starts above the orbits as 2 widely spread nasal placodes that move medially Inferiorly
What are placodes?
Areas of ectoderm tissues which form the sense organs - auditory, olfactory, or vision
The eyes start where and move how?
Laterally and move medially
The ears start where and move where?
Ears start below the mandible and move laterally upward
What is the occurrence rate of facial anomalies?
1/600 births
How common are facial anomalies?
Common
Polyhydraminos occurs with how many facial anomalies?
60% of the facial anomalies
How often does other non -facial anomalies occur due to chromosomal abnormalities?
50%
What increases the risk of development of the face? 3
Drugs such as
1. Alcohol
2. Codeine
3. Valium
What doe we see with axial view of the face? why? 3
- Orbits
- Lens of the eye
- To assess binocular distance
What’s the nose/lip shot?
Tangential coronal of nose lip
What are some tips for Nose/lip? 3 (What do we need to assess?)
- Make sure you have the soft tissue of the nose and lip rather than bone
- Assess for intact upper lip
- Assess for the presence of 2 nostrils
How do we get a profile image?
Ultrasound beam directly over the midline of the face
What are some things that we should see with the profile view? 3
- Chin should be off of chest
- Should see nasal bone and maxilla
- Midline structures of the brain (Corpos callosum)
What are some things we assess with the profile view? 3
- Prominence of the chin and forehead
- Protruding tongue or flattened nose
- Nasal bone
What is a benefit of 3D imaging for parents/
Gives parents an idea of what to expect at delivery
How can 3D imaging be used for in terms of detection?
For better detecting facial anomalies after 2D
Orbits should be separated by a distance of how much?
Orbit globe (1 eyeball)
Outer orbital distances can be used to do what?
Date the pregnancy when the BPD can not be obtained. Low head.
What is anophthalmia?
Congenital absence or severe hypoplasia of the eyes
What do we need to look for to confirm anophhtalmia?
Look for lens
Who is most affected by anophthalmia? (demographic)
T13 babies
What is Microphthalmia?
Small eyes
What do we need to diagnose microphthalmia?
Interocular measurments
Who is affected by microphthalmia?
T13 babies
What is hypertelorism?
Widely spread eyes
Hypertelorism is most commonly due to what?
Mass blocking anterior migration
Hypertelorism is less commonly due to what?
Craniosynostoses
What is hypotelorism?
eyes close together
What kind of measurement do we have with hypotelorism?
Binocular measurement
Who is affected by hypotelorism?
T13 babies
What is cyclonic?
Fusion of eyes into one orbit
What is cyclonic typically seen with?
With nose as supraorbitial proboscis?
Who is affected by cyclopia?
13
What is ethmocephaly?
2 closely spaced but separate eyes with supraorbital proboscis
What is cebocephaly?
2 closely spaced by separate eyes with a central placed nose with only one blind needed nostril
What is a proboscis?
Tuft of tissue, usually above the eyes.
What is seen with proboscis?
Absence of a normal nose
What are five patterns of cleft lip and palate? One extra. 6
- Cleft lip alone
- Unilateral cleft lip and palate
- Bilateral cleft lip and palate
- Midline cleft lip and palate
- Cleft palate alone
- Facial defects associated with amniotic bands
What is the occurrence rate of clefting with T18?
40%
What is the occurrence rate of clefting in t13?
60%
Isolated cleft palate is more likely to be associated with what?
Additional anomalies
How easy is it to see cleft palate on u/s?
Difficult
Polyhydraminos and small stomach are often seen because of what?
clefting defect which can disturb fetal swallowing
If you are having a difficult time catching the soft tissue, what do we need to do?
Look very carefully, this baby may have bilateral cleft lip
When looking for a cleft lip we need to be careful not to do what?
Confuse not to confuse philtrum with cleft lip
Where is the median cleft face located?
Middle of the nose
What is medial cleft face?
Nasal and maxillary structures fail to fuse, also cleft nose.
Which is more difficult to see, Cleft palate or Cleft lip?
Cleft palate
What is the view we need to use to catch cleft palate?
TRX around tooth buds
It is very easy to create cleft palate if you are doing what?
Scanning in the oral cavity or ethmoid sinuses
What is marcroglossia?
Abnormally large protruding tongue beyond the lips
What chromosomal anomaly is macroglossia assocaited with?
T21
What S/S of Beckwith- wiedemann syndrome? 4
- Macroglossia
- Macrosomia
- Omphalocele
- Renal hyperplasia or renal dysplasia
Beckwith-wiedemann syndrome has an increased risk of developing what? 2
- Wilms tumor
- Hepatoblastoma
What is Micrognathia?
Mandibular hypoplasia
What are some features we see with Micrognathia? 2
- Lower jaw smaller than usual
- Small chin
If the ears are placed low or small, it can be associated with what? 3
- T21
- T18
- T13
Fetal thyroid starts to function @ how many weeks?
12 weeks
Can the fetus have hyperthyroidism and hypothyroidism?
Yes
Hyperthyroidism and hypothyroidism does what to the thyroid?
Enlarges it
Maternal Graves’ disease can cause what?
Hyperthyroid in fetus
Can we see a neck mass on u/s?
Yes
A mass in the fetal neck may cause what?
Fetal neck to hyperextend
What can happen as a result of a fetal mass in the neck? (s/s)
Polyhydraminos
Fetal thyroid dysfunction can lead to what? 3
- IUGR
- Oligiohydramnios
- Tachycardia
Treatment of the thyroid can be done when?
In utero with thyroid medication administered to the mother
What is a nuchal cord?
Umbilical cord looped 2 or more times around neck
What is cystic hygroma?
Septated nuchal fluid
Cystic hygroma usually consists of what?
Multiocular lymphatic fluid lined by lymphatic endothelium
Cystic hygroma is thought to arise due to what?
Failure of the lymphatic system to develop a communication to the Venous system of the neck
Not all cystic hygromas have what kind of origin?
Lymphatic
Cystic hygromas are often accompanied by what? 2
- Hydrops
- Cardiac abnormalities
> 60% of fetuses with cystic hygromas have what?
Chromosomal abnormalities
What are some chromosomal anomalies that are associated with cystic hygroma? 3
- Turner’s syndrome
- Down’s syndrome
- Noonan Syndrome
What is a non chromosomal syndrome that is a associated with cystic hygroma?
Fetal alcohol syndrome
When can cystic hygroma be seen as?
Postmortem effect
What does cystic hygroma look like on u/s?
Hypoechoic fluid collection with random septations
How early can cystic hygromas be seen on u/s?
10 weeks but should not be mistaken with nuchal translucency
What is the DDX of cystic hygroma?
Posterior encephalocele, however, the brain, skull, and spine are normal with cystic hygroma
When is nuchal translucency seen?
Between 11w - 13w 6d gestation
What is the CRL of nuchal translucency values?
45- 84mm
What is the normal values of nuchal translucency?
Depends on the maternal age
What is nuchal translucency used for?
Screening for increasing or decreasing first of chromosomal abnormalities
Increased nuchal translucency is associated with what?
Aneuploidy and other fetal abnormalities
When is nuchal fold thickening assessed?
Between 16-22 weeks as port of a routine 2nd trimester detailed assessment
What is nuchal fold thickening due to?
Subcutaneous edema
What is considered abnormal for nuchal fold thickening?
> 6mm
What has a high association with nuchal fold thickening?
T21
42% of fetus with Down syndrome have a thick what?
Nuchal fold
What does a teratoma look like?
Solid/ complex mass
If the teratoma is large what happens to the fetal neck?
Hyperextension
Label
Label
What does this image represent?
The migration of the nose, eyes and ears
Which plane is used to assess the nuchal fold?
BPD
What are some landmarks we see when we look for a nuchal fold?
CSP, Falx, peduncles
Teratomas may obstruct swelling causing what?
Polyhydraminos
What is the views being identified?
- Nose bone
- Maxilla
What does this profile image focus on?
- Assessing the prominence of the chin and forehead
- Assess from protruding tongue or a flattened nose
- Assess for nasal bone
What does this image represent?
Hypoplastic nasal bone
What does this image represent?
Hypoplastic nasal bone
What does this image represent?
Retronasal triangle
What does this image represent?
No nasal bone
What does this image represent?
Coronal face
What does this image represent?
Orbital measurements
What does this image represent?
Normal vs IOD abnormal
What does this image represent?
Hypotelorism
What does this image represent?
Ethmocephaly vs cebocephaly
Label
What does this image represent?
Normal nose/ lip and cleft lip
What does this image represent?
Bilateral cleft lip
What does this image represent?
Median cleft face
What does this image represent?
Beckwith - wiedemann syndrome
What does this image represent?
Tongue mass
What does this image represent?
Micrognathia vs retrognathia
What does this image represent?
Frontal bossing
What does this image represent?
- Normal
- Pseudo low set ears
- True low set ears
What does this image represent?
Nuchal cord
What does this image represent?
Nuchal cord
What does this image represent?
Normal vs abnormal lymphatic drainage
What does this image represent?
Nuchal translucency
What does this image represent?
Nuchal fold
