Module 11 : Fetal Face and Neck Pathology Flashcards
when does face development begin and end
- starts 5 weeks LMP
- completed 10 weeks LMP
what does the face develop from
- 5 main facial processes that move together and fuse
what are the 5 main facial processes
- 1 frontonasal process
- 2 maxillary prominences
- 2 mandibular prominences
how does the frontal nasal process move
- starts superior in head and moves inferiorly
what 5 things does the frontonasal process form
- mid forehead
- nose
- CENTRAL UPPER LIP
- central maxilla
- anterior pallate
how do the maxillary prominences move
- starts lateral then move medial
what 4 things does the maxillary prominences form
- cheeks
- LATERAL UPPER LIP
- maxilla
- posterior/ secondary palate
how do the mandibular prominences move
- start lateral and inferior then move medially
what does the mandibular prominences form
- form the mandible
where does the nose being to develop and where does it move to
- nose starts above the orbits as 2 widely spread nasal placodes
- move medially and inferiorly
what are placodes
- areas of ectoderm tissue which form the sense organs
+ auditory, olfactory, vision
where do the eyes being to develop and where do they move to.
- eyes start lateral
- move medial
where do the ears begin to develop and where do they move to
- start below the mandible
- move laterally and upward
area facial anomalies uncommon or common
- very common
what other abnormality usually occur with facial anomaly
- polyhydramnios occurs with most cases due to swallowing affected
what chromosomal abnormality is most commonly associated with facial anomalies
- trisomy 13 is highest
what maternal related factors can affect development of face
- drugs
- alcohol
- codeine
- valium
- anti-epileptic drugs
in what view do we assess the fetal orbits
- axial (BPD) through face
what do three things do we asses when looking at orbits
- orbital size
- lens on eyes
- binocular distance
in what view do we view nose/lips
- tangential coronal of nose lip
what 3 things are we looking for when we do the nose lip picture
- want soft tissue of the nose and lip rather than bone
- assess for intact upper lip
- presence of 2 nostrils
where do we take the profile picture of baby
- directly over midline sagittal of face
what 3 things are we looking for with the profile image of baby
- prominence of chin and forehead
- protruding tongue or a flattened nose
- asses for the nasal bone
what would the presence of a nasal bone look like on baby
- equal “=” sign between skin and bone
why is 3D imaging done with facial anomalies
- some surgeons like to see it for the extent of anomaly and to help parents get a better idea of what to expect on delivery
what is the normal distance between the orbits
- should be separated by the distance of one orbital globe
what orbital measurement can be used to date pregnancy when BPD cannot be used
- outer orbital distance OOD
- but does not communicate directly in mm to weeks
what are the 2 measurements of the orbits
- OOD = outer orbital distance
- IOD = inner orbital distance
what are 7 orbital anomalies
- anopthalmia
- micropthalmia
- hypertelorism
- hypotelorism
- cyclopia
- ethmocephaly
- cebocephaly
what is anopthalmia
- congenital absence or sever hypoplasia of the eyes
what chromosomal abnormality is most commonly associated with anopthalmia
- trisomy 13
what is microphthalmia and what chromosomal abnormality is associated with it
- small eyes
- trisomy 13
what is hypertelorism
- widely spread eyes
what is hypertelorism most commonly caused by
- due to mass blocking anterior migrate (encephalocele)
what is the less likely cause of hypertelorism
- craniosyostoses
what is hypotelorism and what chromosomal abnormality is it most commonly seen
- eyes close together
- trisomy 13
what is cycolpia and what chromosomal abnormality is it associated with
- fusion of eyes into one orbit
- typically with a supraorbital proboscis
- trisomy 13
what is ethmocephaly
- 2 closely spaced but separate eyes with a supraorbital probiscis
what is cebocephaly
- 2 closely spaced but separate eyes with a centrally placed nosed with only one blind ended nostril
what is a proboscis
- tuft of tissue usually above the eyes
- absence of a normal nose
5 patterns or cleft and palate
- cleft lip alone
- unilateral cleft lip and palate
- bilateral cleft lip and palate
- midline cleft lip and palate
- facial defects with amniotic band
in what two chromosomal abnormalities is clefting most common
- trisomy 13 most common
- trisomy 18
is cleft palate easy to see on ultrasound
- no
what other anomaly will be seen with cleating and why
- polyhradmnios and small stomach
- due to swallowing defects
what normal structure can be commonly confused with cleft lip
the philtrum
What is median cleft face
- cleft in the middle of the nose
What causes median cleft face
- nasal and maxillary structures fail to fuse
What chromosomal abnormality is often associated with median cleft face
- trisomy 13
Is cleft palate easier to diagnose on ultrasound than cleft lip
- much more difficult
Where should we look to assess for cleft palate
- look in transverse around the tooth buds
What is macroglossia
- abnormally large protruding tongue beyond the lips
What 2 chromosomal abnormalities is macroglossia associated with
- trisomy 21
- beckwith-wiedemann syndrome
What 5 anomalies is beckwith-wiedamann syndrome associated with
- macroglossia
- macrosomia (LGA)
- omphalocele
- renal hyperplasia or renal dysplasia
- increased risk of Wilms tumor and hepatoblastoma
What will produce a Doppler signal when using color around teh area of the tongue
- baby breathingi
What is micrognathia
- small chin
What is retrognathia
- receded
- posteriorly displaced chin
What is frontal bossing
- very large protruding forehead
- goes past the line
What chromosomal abnormality is low are small ears associated with
- trisomy 21, 18, 13
When does fetal thyroid begin to function
- 12 weeks
What two disorders of the thyroid can a fetus have and how would they change the thyroid
- hyperthyroidism
- hypothyroidism
- both would enlarge the thyroid
What maternal disease can cause hyperthyroid in fetus
- maternal Graves’ disease
Can a neck mass be identified on ultrasound how will the mass affect the fetal position
- yes
- fetal neck could be hyperextended
What other anomaly may result from a neck mass
- polyhydramnious from obstruction
What three things can fetal thyroid destruction lead to
- IUGR
- oligohydramnios
- tachycardia
How do you treat thyroid disorders in fetus
- thyroid medication administered to mother
What complications can occur with the umbilical cord
- nuchal cord
What is a nuchal cord
- umbilical cord looped 2 or more times around the neck and tight
- common reason for unexplained/sudden death in uterus
What is the best view to assess for nuchal cord
- transverse
What is a cystic hygroma
- septated nuchal fluid
- multilocular lymphatic fluid lined by lymphatic endothelial
What is the cause of cystic hygroma
- arise due to a failure of the lymphatic system to develop a communication to the venous systems of the neck
Are all cystic hygromas lymphatic in origin
- no
What other disorder usually accompanies cystic hygroma
- hydrops
What is the prognosis of cystic hygroma
- poor prognosis
What chromosomal abnormality is cystic hygroma most commonly associated with
- turners syndrome
Ultrasound appearance of cystic hygroma
- hypoechoic fluid collection with random septations
- seen as early as 10 weeks but should not be mistaken with normal nuchal translucency
What is the DDx of cystic hygroma
- posterior encephalocele howerever brain , skull, and spine normal with a cystic hygroma
When is the nuchal lucency seen on ultrasound
- seen between 11w-13w6 d gestation
What is the usually normal measurement for nuchal lucency
- <3mm
* VERY DEPENDANT ON MATERNAL AGE
What is an increased nuchal lucency asasociated with
- aneuploidy and other fetal abnormalities
Steps for doing nuchal lucency
- magnify/zoom fetal head and chest
- perfect midline sag plane
- natural flexion of the spine
- decrease dynamic range
- measure on to on
When is nuchal fold assessed and what is it associated with
- 16-24 weeks
- Down syndrome
What is thickening of nuchal fold caused by
- subcutaneous edema
What plane is used to assess the nuchal fold
- transverse axial
What landmarks must be on teh image for nuchal fold
- posterior fossa
- CSP
When do we stop measuring nuchal fold and why
- after 24 weeks
- ibigger baby more skin
What kind of tissue are teratomas composed of
- 3 germ cell layers
Can teratomas obstruct swallowing and what would it cause
- yes
- polyhydramnious
What complication can teratomas cause
- dystocia
What is dystocia
- difficult labor or birth
Teratomas on ultrasound
- solid mass
- if larger hyperextending of fetal neck will result