Module 11 : Fetal Face and Neck Pathology Flashcards

1
Q

when does face development begin and end

A
  • starts 5 weeks LMP

- completed 10 weeks LMP

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2
Q

what does the face develop from

A
  • 5 main facial processes that move together and fuse
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3
Q

what are the 5 main facial processes

A
  • 1 frontonasal process
  • 2 maxillary prominences
  • 2 mandibular prominences
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4
Q

how does the frontal nasal process move

A
  • starts superior in head and moves inferiorly
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5
Q

what 5 things does the frontonasal process form

A
  • mid forehead
  • nose
  • CENTRAL UPPER LIP
  • central maxilla
  • anterior pallate
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6
Q

how do the maxillary prominences move

A
  • starts lateral then move medial
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7
Q

what 4 things does the maxillary prominences form

A
  • cheeks
  • LATERAL UPPER LIP
  • maxilla
  • posterior/ secondary palate
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8
Q

how do the mandibular prominences move

A
  • start lateral and inferior then move medially
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9
Q

what does the mandibular prominences form

A
  • form the mandible
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10
Q

where does the nose being to develop and where does it move to

A
  • nose starts above the orbits as 2 widely spread nasal placodes
  • move medially and inferiorly
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11
Q

what are placodes

A
  • areas of ectoderm tissue which form the sense organs

+ auditory, olfactory, vision

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12
Q

where do the eyes being to develop and where do they move to.

A
  • eyes start lateral

- move medial

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13
Q

where do the ears begin to develop and where do they move to

A
  • start below the mandible

- move laterally and upward

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14
Q

area facial anomalies uncommon or common

A
  • very common
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15
Q

what other abnormality usually occur with facial anomaly

A
  • polyhydramnios occurs with most cases due to swallowing affected
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16
Q

what chromosomal abnormality is most commonly associated with facial anomalies

A
  • trisomy 13 is highest
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17
Q

what maternal related factors can affect development of face

A
  • drugs
  • alcohol
  • codeine
  • valium
  • anti-epileptic drugs
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18
Q

in what view do we assess the fetal orbits

A
  • axial (BPD) through face
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19
Q

what do three things do we asses when looking at orbits

A
  • orbital size
  • lens on eyes
  • binocular distance
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20
Q

in what view do we view nose/lips

A
  • tangential coronal of nose lip
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21
Q

what 3 things are we looking for when we do the nose lip picture

A
  • want soft tissue of the nose and lip rather than bone
  • assess for intact upper lip
  • presence of 2 nostrils
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22
Q

where do we take the profile picture of baby

A
  • directly over midline sagittal of face
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23
Q

what 3 things are we looking for with the profile image of baby

A
  • prominence of chin and forehead
  • protruding tongue or a flattened nose
  • asses for the nasal bone
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24
Q

what would the presence of a nasal bone look like on baby

A
  • equal “=” sign between skin and bone
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25
Q

why is 3D imaging done with facial anomalies

A
  • 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
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26
Q

what is the normal distance between the orbits

A
  • should be separated by the distance of one orbital globe
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27
Q

what orbital measurement can be used to date pregnancy when BPD cannot be used

A
  • outer orbital distance OOD

- but does not communicate directly in mm to weeks

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28
Q

what are the 2 measurements of the orbits

A
  • OOD = outer orbital distance

- IOD = inner orbital distance

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29
Q

what are 7 orbital anomalies

A
  • anopthalmia
  • micropthalmia
  • hypertelorism
  • hypotelorism
  • cyclopia
  • ethmocephaly
  • cebocephaly
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30
Q

what is anopthalmia

A
  • congenital absence or sever hypoplasia of the eyes
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31
Q

what chromosomal abnormality is most commonly associated with anopthalmia

A
  • trisomy 13
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32
Q

what is microphthalmia and what chromosomal abnormality is associated with it

A
  • small eyes

- trisomy 13

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33
Q

what is hypertelorism

A
  • widely spread eyes
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34
Q

what is hypertelorism most commonly caused by

A
  • due to mass blocking anterior migrate (encephalocele)
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35
Q

what is the less likely cause of hypertelorism

A
  • craniosyostoses
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36
Q

what is hypotelorism and what chromosomal abnormality is it most commonly seen

A
  • eyes close together

- trisomy 13

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37
Q

what is cycolpia and what chromosomal abnormality is it associated with

A
  • fusion of eyes into one orbit
  • typically with a supraorbital proboscis
  • trisomy 13
38
Q

what is ethmocephaly

A
  • 2 closely spaced but separate eyes with a supraorbital probiscis
39
Q

what is cebocephaly

A
  • 2 closely spaced but separate eyes with a centrally placed nosed with only one blind ended nostril
40
Q

what is a proboscis

A
  • tuft of tissue usually above the eyes

- absence of a normal nose

41
Q

5 patterns or cleft and palate

A
  • cleft lip alone
  • unilateral cleft lip and palate
  • bilateral cleft lip and palate
  • midline cleft lip and palate
  • facial defects with amniotic band
42
Q

in what two chromosomal abnormalities is clefting most common

A
  • trisomy 13 most common

- trisomy 18

43
Q

is cleft palate easy to see on ultrasound

A
  • no
44
Q

what other anomaly will be seen with cleating and why

A
  • polyhradmnios and small stomach

- due to swallowing defects

45
Q

what normal structure can be commonly confused with cleft lip

A

the philtrum

46
Q

What is median cleft face

A
  • cleft in the middle of the nose
47
Q

What causes median cleft face

A
  • nasal and maxillary structures fail to fuse
48
Q

What chromosomal abnormality is often associated with median cleft face

A
  • trisomy 13
49
Q

Is cleft palate easier to diagnose on ultrasound than cleft lip

A
  • much more difficult
50
Q

Where should we look to assess for cleft palate

A
  • look in transverse around the tooth buds
51
Q

What is macroglossia

A
  • abnormally large protruding tongue beyond the lips
52
Q

What 2 chromosomal abnormalities is macroglossia associated with

A
  • trisomy 21

- beckwith-wiedemann syndrome

53
Q

What 5 anomalies is beckwith-wiedamann syndrome associated with

A
  • macroglossia
  • macrosomia (LGA)
  • omphalocele
  • renal hyperplasia or renal dysplasia
  • increased risk of Wilms tumor and hepatoblastoma
54
Q

What will produce a Doppler signal when using color around teh area of the tongue

A
  • baby breathingi
55
Q

What is micrognathia

A
  • small chin
56
Q

What is retrognathia

A
  • receded

- posteriorly displaced chin

57
Q

What is frontal bossing

A
  • very large protruding forehead

- goes past the line

58
Q

What chromosomal abnormality is low are small ears associated with

A
  • trisomy 21, 18, 13
59
Q

When does fetal thyroid begin to function

A
  • 12 weeks
60
Q

What two disorders of the thyroid can a fetus have and how would they change the thyroid

A
  • hyperthyroidism
  • hypothyroidism
  • both would enlarge the thyroid
61
Q

What maternal disease can cause hyperthyroid in fetus

A
  • maternal Graves’ disease
62
Q

Can a neck mass be identified on ultrasound how will the mass affect the fetal position

A
  • yes

- fetal neck could be hyperextended

63
Q

What other anomaly may result from a neck mass

A
  • polyhydramnious from obstruction
64
Q

What three things can fetal thyroid destruction lead to

A
  • IUGR
  • oligohydramnios
  • tachycardia
65
Q

How do you treat thyroid disorders in fetus

A
  • thyroid medication administered to mother
66
Q

What complications can occur with the umbilical cord

A
  • nuchal cord
67
Q

What is a nuchal cord

A
  • umbilical cord looped 2 or more times around the neck and tight
  • common reason for unexplained/sudden death in uterus
68
Q

What is the best view to assess for nuchal cord

A
  • transverse
69
Q

What is a cystic hygroma

A
  • septated nuchal fluid

- multilocular lymphatic fluid lined by lymphatic endothelial

70
Q

What is the cause of cystic hygroma

A
  • arise due to a failure of the lymphatic system to develop a communication to the venous systems of the neck
71
Q

Are all cystic hygromas lymphatic in origin

A
  • no
72
Q

What other disorder usually accompanies cystic hygroma

A
  • hydrops
73
Q

What is the prognosis of cystic hygroma

A
  • poor prognosis
74
Q

What chromosomal abnormality is cystic hygroma most commonly associated with

A
  • turners syndrome
75
Q

Ultrasound appearance of cystic hygroma

A
  • hypoechoic fluid collection with random septations

- seen as early as 10 weeks but should not be mistaken with normal nuchal translucency

76
Q

What is the DDx of cystic hygroma

A
  • posterior encephalocele howerever brain , skull, and spine normal with a cystic hygroma
77
Q

When is the nuchal lucency seen on ultrasound

A
  • seen between 11w-13w6 d gestation
78
Q

What is the usually normal measurement for nuchal lucency

A
  • <3mm

* VERY DEPENDANT ON MATERNAL AGE

79
Q

What is an increased nuchal lucency asasociated with

A
  • aneuploidy and other fetal abnormalities
80
Q

Steps for doing nuchal lucency

A
  • magnify/zoom fetal head and chest
  • perfect midline sag plane
  • natural flexion of the spine
  • decrease dynamic range
  • measure on to on
81
Q

When is nuchal fold assessed and what is it associated with

A
  • 16-24 weeks

- Down syndrome

82
Q

What is thickening of nuchal fold caused by

A
  • subcutaneous edema
83
Q

What plane is used to assess the nuchal fold

A
  • transverse axial
84
Q

What landmarks must be on teh image for nuchal fold

A
  • posterior fossa

- CSP

85
Q

When do we stop measuring nuchal fold and why

A
  • after 24 weeks

- ibigger baby more skin

86
Q

What kind of tissue are teratomas composed of

A
  • 3 germ cell layers
87
Q

Can teratomas obstruct swallowing and what would it cause

A
  • yes

- polyhydramnious

88
Q

What complication can teratomas cause

A
  • dystocia
89
Q

What is dystocia

A
  • difficult labor or birth
90
Q

Teratomas on ultrasound

A
  • solid mass

- if larger hyperextending of fetal neck will result