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1. 12/14/2011 L.Zanin - MS213 - Fetal Face 1 Fetal Face
2. 12/14/2011 L.Zanin - MS213 - Fetal Face 2
3. 12/14/2011 L.Zanin - MS213 - Fetal Face 3 Fetal Face at 13 weeks A wide open mouth, notice the nasal bones between the orbits
4. 12/14/2011 L.Zanin - MS213 - Fetal Face 4 Fetal Face A targeted exam of the face may be useful if the pregnancy is complicated by:
polyhydramnios
maternal history of teratogen exposure
family history of previous craniofacial malformatoin (cleft lip)
5. 12/14/2011 L.Zanin - MS213 - Fetal Face 5 Viewing the Fetal Face The following views can be obtained to view the facial features of the fetus:
Transverse of the orbits, nose, lips and anterior palate
Coronal view through the orbits, nose and lips
View of the ears
6. 12/14/2011 L.Zanin - MS213 - Fetal Face 6 Orbit Measurement Documentation of the presence and size of two eyes and of the distance between them provides the most useful diagnostic information
You can obtain this image by starting with the normal BPD image and angling caudal at the anterior aspect of skull until orbits are imaged
7. 12/14/2011 L.Zanin - MS213 - Fetal Face 7 Fetal Face Coronal view showing fetal eye, eye lids, lens, lips, & nose.
8. 12/14/2011 L.Zanin - MS213 - Fetal Face 8 Fetal Face Coronal view showing fetal eye, eye lids, lens lips, & nose.
9. 12/14/2011 L.Zanin - MS213 - Fetal Face 9 FETAL FACE
10. 12/14/2011 L.Zanin - MS213 - Fetal Face 10 Eyes Hypertelorism
Eyes are set far apart
May be isolated or secondary as part of multiple syndromes, especially chromosomal abnormalities or teratogen exposure, & cephaloceles
Most are found with anterior or frontal cephaloceles
Hypotelorism
Eyes are set close together
Most commonly associated with holoprosencephaly
11. 12/14/2011 L.Zanin - MS213 - Fetal Face 11 Hypertelorism
12. 12/14/2011 L.Zanin - MS213 - Fetal Face 12 Hypertelorism
13. 12/14/2011 L.Zanin - MS213 - Fetal Face 13 Hypotelorism
14. 12/14/2011 L.Zanin - MS213 - Fetal Face 14 Hypotelorism
15. 12/14/2011 L.Zanin - MS213 - Fetal Face 15 Hypotelorism
16. 12/14/2011 L.Zanin - MS213 - Fetal Face 16 Hypotelorism Associated with Holoprosencephaly is a complex spectrum of intracranial abnormalities resulting from absent or incomplete development and includes:
Cyclopia, cleft lip and palate
Hypotelorism
Cebocephaly - proboscis, hypotelorism
Ethmocephaly - marked hypotelorism absent nose with proboscis
17. 12/14/2011 L.Zanin - MS213 - Fetal Face 17 Ethmocephaly - marked hypotelorism absent nose with proboscis
18. 12/14/2011 L.Zanin - MS213 - Fetal Face 18 Proboscis cebocephaly - proboscis, hypotelorism
19. 12/14/2011 L.Zanin - MS213 - Fetal Face 19 Proboscis & Fused Orbits
20. 12/14/2011 L.Zanin - MS213 - Fetal Face 20 Hypertelorism with Encephalocele
21. 12/14/2011 L.Zanin - MS213 - Fetal Face 21 Lips, Mouth, Tongue: Coronal The coronal view provides useful information regarding cleft lips which are often seen with polyhydramnios, family history, or an unusually shaped mouth
Things to look for:
Is the upper lip cleft
Is the tongue protuberant
Macroglossia – enlarged tongue (associated with Beckwith-Wiedemann Syndrome)
Is the mouth open wide or fixed in position
22. 12/14/2011 L.Zanin - MS213 - Fetal Face 22 Cleft Lip & Cleft Palate Most common facial deformity
Two major groups of cleft lip and palate
Upper lip and anterior maxilla with or without involvement of the soft and hard palates
Clefts involving the hard and soft palates
May be an isolated finding (rare)
Also associated with chromosomal disorders and amniotic band syndromes
Associated with a number of syndromes, holoprosencephaly, trisomy 13, 18 and triploidy
23. 12/14/2011 L.Zanin - MS213 - Fetal Face 23 Cleft Lip & Cleft Palate Sonographic appearance of cleft lip
Anechoic region in the upper lip, lateral to the midline extending to the nostrils
Sonographic appearance of cleft palate
Difficult to diagnose sonographically due to facial bone shadowing
Visualized by obtaining coronal frontal scans angled posteriorly
24. 12/14/2011 L.Zanin - MS213 - Fetal Face 24 Normal Lip & Palate
25. 12/14/2011 L.Zanin - MS213 - Fetal Face 25 Fetal Lips & Nose Coronal view of the lower face showing the normal appearance of the upper lip and nose
26. 12/14/2011 L.Zanin - MS213 - Fetal Face 26 Fetal Lips & Nose
27. 12/14/2011 L.Zanin - MS213 - Fetal Face 27 Lips and Nose
28. 12/14/2011 L.Zanin - MS213 - Fetal Face 28 Fetal Nose & Lips Axial view through the upper and lower lip, the mouth is slightly open. This view would rule out cleft lip.
29. 12/14/2011 L.Zanin - MS213 - Fetal Face 29 Fetal Nose & Lips Axial view through the upper and lower lip, the mouth is slightly open. This view would rule out cleft lip.
30. 12/14/2011 L.Zanin - MS213 - Fetal Face 30 Lips & Nose Another image shows the face of the same fetus with the nose and lips no longer pressed against the uterine wall and thus no cleft.
31. 12/14/2011 L.Zanin - MS213 - Fetal Face 31 Lips & Nose Pseudocleft. The lips and nose are pressed against the uterine wall
32. 12/14/2011 L.Zanin - MS213 - Fetal Face 32 Cleft Lip
33. 12/14/2011 L.Zanin - MS213 - Fetal Face 33 Cleft Lip & Cleft Palate
34. 12/14/2011 L.Zanin - MS213 - Fetal Face 34 Unilateral Cleft Lip
35. 12/14/2011 L.Zanin - MS213 - Fetal Face 35 Unilateral Cleft Lip
36. 12/14/2011 L.Zanin - MS213 - Fetal Face 36 3D image of Unilateral Cleft Lip
37. 12/14/2011 L.Zanin - MS213 - Fetal Face 37 Unilateral Cleft Lip
38. 12/14/2011 L.Zanin - MS213 - Fetal Face 38 Unilateral Cleft Lip
39. 12/14/2011 L.Zanin - MS213 - Fetal Face 39 Unilateral Cleft Lip Facial cleft. Shows the gap in the upper lip.
40. 12/14/2011 L.Zanin - MS213 - Fetal Face 40 Unilateral Cleft Lip
41. 12/14/2011 L.Zanin - MS213 - Fetal Face 41 Unilateral Cleft Lip
42. 12/14/2011 L.Zanin - MS213 - Fetal Face 42 Unilateral Cleft Lip
43. 12/14/2011 L.Zanin - MS213 - Fetal Face 43 Bilateral Cleft Lip & Cleft Palate
44. 12/14/2011 L.Zanin - MS213 - Fetal Face 44 Bilateral cleft lip
45. 12/14/2011 L.Zanin - MS213 - Fetal Face 45 Cleft lip and cleft palate
46. 12/14/2011 L.Zanin - MS213 - Fetal Face 46 Bilateral Cleft Lip
47. 12/14/2011 L.Zanin - MS213 - Fetal Face 47 Cleft Palate
48. 12/14/2011 L.Zanin - MS213 - Fetal Face 48 Beckwith-Wiedemann Syndrome Sonographic detection of an enlarged and protuberant tongue (Macroglossia) especially when associated with large for dates, polyhydramnios or omphalocele
Fetal profile evaluation is very important especially if there is a positive family history
49. 12/14/2011 L.Zanin - MS213 - Fetal Face 49 Beckwith-Wiedemann Syndrome
50. 12/14/2011 L.Zanin - MS213 - Fetal Face 50 Beckwith-Wiedemann Syndrome
51. 12/14/2011 L.Zanin - MS213 - Fetal Face 51 Beckwith-Wiedemann Syndrome
52. 12/14/2011 L.Zanin - MS213 - Fetal Face 52 Facial Profile View The fetal profile is optimally demonstrated with the mid sagittal view of the face
Ask yourself the following questions:
Is the nose flattened
Is the chin abnormally small
Is an abnormal mass present
This view may reveal large facial or neck masses as well as more subtle abnormalities including abnormal or absent nose or an enlarged tongue
53. 12/14/2011 L.Zanin - MS213 - Fetal Face 53 Fetal Profile The contour of the face in profile. Notice the smooth surface of the frontal bone, the appearance of the nose and upper and lower lips
54. 12/14/2011 L.Zanin - MS213 - Fetal Face 54 Fetal Profile Tongue in mouth
55. 12/14/2011 L.Zanin - MS213 - Fetal Face 55 FETAL LENSES
56. 12/14/2011 L.Zanin - MS213 - Fetal Face 56 FETAL LENS
57. 12/14/2011 L.Zanin - MS213 - Fetal Face 57 FETAL PROFILE
58. 12/14/2011 L.Zanin - MS213 - Fetal Face 58 FETAL FACE/PROFILE
59. 12/14/2011 L.Zanin - MS213 - Fetal Face 59 FETAL FACE
60. 12/14/2011 L.Zanin - MS213 - Fetal Face 60 Fetal Profile
61. 12/14/2011 L.Zanin - MS213 - Fetal Face 61 Fetal Profile Micrognathia (small chin) associated with trisomy 13
62. 12/14/2011 L.Zanin - MS213 - Fetal Face 62 Micrognathia
63. 12/14/2011 L.Zanin - MS213 - Fetal Face 63 Micrognathia vs severe micrognathia
64. 12/14/2011 L.Zanin - MS213 - Fetal Face 64 Fetal Profile Cloverleaf skull
65. 12/14/2011 L.Zanin - MS213 - Fetal Face 65 Fetal Profile Fetus with anencephaly
Note the fetal orbits are the highest structures of the fetal head
66. 12/14/2011 L.Zanin - MS213 - Fetal Face 66 Fetal Ears Routine sonographic exams of the fetal external ears rarely provides any useful information in the absence of other abnormalities
Low set ears and malformations occur in 85 different syndromes
Look for the following:
Are the ears obviously deformed
Are the ears low set or abnormal in size
67. 12/14/2011 L.Zanin - MS213 - Fetal Face 67 Fetal Ear
68. 12/14/2011 L.Zanin - MS213 - Fetal Face 68 Ear
69. 12/14/2011 L.Zanin - MS213 - Fetal Face 69 Low Set Ear
70. 12/14/2011 L.Zanin - MS213 - Fetal Face 70 Dorsal Pseudomembrane or Nuchal Translucency Thin echogenic line that parallels the posterior occiput & cervical spine
Must be less than 2.8 - 3.0 mm
Seen between 10-14 weeks
Disappears by 18 weeks
If it measures greater than 3.0 mm is is strongly associated with chromosomal abnormalities such as trisomies 13, 18 & 21
71. 12/14/2011 L.Zanin - MS213 - Fetal Face 71 Dorsal Pseudomembrane
72. 12/14/2011 L.Zanin - MS213 - Fetal Face 72 Nuchal Translucency
73. 12/14/2011 L.Zanin - MS213 - Fetal Face 73 Nuchal Translucency
74. 12/14/2011 L.Zanin - MS213 - Fetal Face 74 Nuchal Translucency
75. 12/14/2011 L.Zanin - MS213 - Fetal Face 75 Nuchal Translucency
76. 12/14/2011 L.Zanin - MS213 - Fetal Face 76 Nuchal Translucency
77. 12/14/2011 L.Zanin - MS213 - Fetal Face 77 Nuchal Translucency
78. 12/14/2011 L.Zanin - MS213 - Fetal Face 78 Nuchal Translucency
79. 12/14/2011 L.Zanin - MS213 - Fetal Face 79 Nuchal Translucency
80. 12/14/2011 L.Zanin - MS213 - Fetal Face 80 Nuchal Translucency
81. 12/14/2011 L.Zanin - MS213 - Fetal Face 81 Nuchal Translucency
82. 12/14/2011 L.Zanin - MS213 - Fetal Face 82 Nuchal Fold