Ultrasound Evaluation of the Fetal Face and Neck







  • Outline



  • Normal Sonographic Anatomy of the Fetal Face, 243



  • Craniofacial Anomalies, 245




    • Typical Facial Clefts, 245



    • Atypical Facial Clefts, 250



    • Orbital and Ocular Defects, 252



    • Micrognathia and Retrognathia, 255



    • Macroglossia, 257



    • Tumors of the Face, 257



    • Ears, 262




  • Craniosynostosis, 262



  • Anomalies of the Neck, 265




    • Nuchal Cystic Hygroma, 265



    • Other Neck Masses, 266




  • Conclusions, 268




Summary of Key Points




  • •

    The diagnosis of a typical orofacial cleft involving the palate can be suspected as early as the first trimester by the presence of an anechoic space or discontinuity in the retronasal triangle (RNT) view.


  • •

    Using two-dimensional (2D) ultrasound, identifying typical clefts in the second trimester is best done by utilizing the coronal view of the nose and lips and the axial view of the fetal palate.


  • •

    Three-dimensional (3D) ultrasound, particularly the rendering function, can be helpful in the diagnosis of clefts of the hard and soft palate as well as in showing the surface rendered images to the family.


  • •

    Hypertelorism and hypotelorism, which can be defined by standard tables, are associated with a range of genetic syndromes.


  • •

    Micro- and retrognathia are identified in the sagittal profile view, and the diagnosis can be made subjectively or objectively with the use of facial angles.


  • •

    Craniosynostosis, the premature closure of cranial sutures, should be suspected in the presence of significant dolichocephaly or brachycephaly and may be associated with other anomalies or syndromes.


  • •

    Nuchal cystic hygromas are often associated with aneuploidy, with a higher frequency of trisomy 21 in the first trimester and Turner syndrome in the second trimester.


  • •

    Facial tumors and neck masses can compromise the fetal airway at birth and may require the use of an ex utero intrapartum treatment (EXIT) procedure at the time of delivery.





Normal Sonographic Anatomy of the Fetal Face


The fetal face can be evaluated in three different planes using 2D ultrasound—sagittal, axial or transverse, and coronal ( Fig. 10-1 ). Each plane has a unique contribution to the evaluation of fetal craniofacial anatomy. The sagittal plane allows for assessment of the fetal profile and can illustrate any dysmorphism of the forehead or nose and the presence of the nasal bone as well as the positioning of the fetal chin to evaluate for micrognathia or retrognathia ( Table 10-1 ). The axial or transverse plane is integral at two different levels ( Table 10-2 ). The first key image is that of the orbits and eyes, which can be obtained caudad to the image displaying the biparietal diameter. Romero and associates have published nomograms for the various ocular parameters including binocular distance, interocular distance, and ocular diameter ( Table 10-3 ). Moving the transducer further caudad on the fetal head, one arrives at the level of the superior lip and palate followed by the fetal mandible.




FIG 10-1


Normal images of fetal face. A, Sagittal image showing profile. B, Axial image through orbits. C, Axial image through palate showing toothbuds. D, Coronal image showing lips and nostrils.


TABLE 10-1

Normal Appearance of Fetal Facial Features on Ultrasound Image in the Midsagittal Section Plane

From Rotten D, Levaillant JM: Two- and three-dimensional sonographic assessment of the fetal face. 1. A systematic analysis of the normal face. Ultrasound Obstet Gynecol 23:224, 2004.































Structure Normal Appearance
Forehead Almost linear immediately above the articulation between the nasal bones and the frontal bone, followed by a smooth backward bend. This view allows measurement of the thickness of the frontal skin (at the level of the middle of the frontal bend).
Nasal bones Oblique along a frontocaudal direction. This view allows measurement of the length of the nasal bones and of the superior facial angle (angle between the vertical section of the frontal bone and the nasal bones).
Nasal soft tissues The columella is oblique or horizontal but should not be vertical.
Upper lip The philtrum is linear and should present no bulging. This view allows measurement of the length of the philtrum.
Secondary palate Thick echoic line, beginning at the alveolar level, and extending horizontally backward. Its middle is marked by a notch, present on both the superior and inferior edges, and corresponds to the transverse palatal suture. The notch is mostly visible on the superior edge.
Oral cavity The tongue is slightly oblique upward (10-15 degrees). Its tip lies immediately behind the alveolar ridge.
Inferior lip Rests edge to edge with the upper lip. Both lips are arranged along the same axis; there should be no anteroposterior shift between them.
Chin At the level of the vertical line traced on the prefrontal skin (esthetic vertical line of the face).


TABLE 10-2

Normal Appearance of Fetal Facial Features on Ultrasound Image in the Axial Section Planes

From Rotten D, Levaillant JM: Two- and three-dimensional sonographic assessment of the fetal face. 1. A systematic analysis of the normal face. Ultrasound Obstet Gynecol 23:224, 2004.






















Structure Normal Appearance
Orbits The interorbital axis is perpendicular to the strict sagittal axis. This view allows measurement of the inner and outer interorbital lengths.
Nasal septum, molar The nasal septum is perpendicular to the axial plane. The two malar arches are symmetric with regard to arches to the nasal septum.
Upper lip, maxilla There is no lack of continuity of the upper lip. The maxilla appears as a regular, U-shaped echoic bend. The alveolus and tooth buds appear as hypoechoic spots regularly distributed along the alveolar ridge. There is no shift between adjacent alveoli. The hard palate appears as an echoic structure, with a complex shape. The anterior part is semicircular and lies immediately posterior to the alveolar ridge. The posterior part presents as a rectangular figure, with a notch on its distal side. This view allows measurement of the size of the maxilla.
Oral cavity The tongue occupies the totality of the oral cavity and is glued to the alveolar ridge. Posteriorly, the tongue ends at the oropharynx level. This view allows measurement of the width and length of the tongue.
Mandible Appears as a regular V-shaped echoic image. Both hemimandibles are almost rectilinear. The symphysis menti is clearly visible. The alveoli appear as regularly distributed hypoechoic spots. This view allows measurement of the size of the mandible (e.g., mandible width and computation of mandible width/maxilla width ratio).


TABLE 10-3

Nomograms for Growth of the Ocular Parameters, by Percentile

From Romero R, Pilu G, Jeanty P, et al: Prenatal Diagnosis of Congenital Anomalies. Norwalk, CT, Appleton & Lange, 1988, p 83.





























































































































































































































































































































































Age (Weeks) BINOCULAR DISTANCE (mm) INTEROCULAR DISTANCE (mm) OCULAR DIAMETER (mm)
5th 50th 95th 5th 50th 95th 5th 50th 95th
11 5 13 20 — — — — — —
12 8 15 23 4 9 13 1 3 6
13 10 18 25 5 9 14 2 4 7
14 13 20 28 5 10 14 3 5 8
15 15 22 30 6 10 14 4 6 9
16 17 25 32 6 10 15 5 7 9
17 19 27 34 6 11 15 5 8 10
18 22 29 37 7 11 16 6 9 11
19 24 31 39 7 12 16 7 9 12
20 26 33 41 8 12 17 8 10 13
21 28 35 43 8 13 17 8 11 13
22 30 37 44 9 13 18 9 12 14
23 31 39 46 9 14 18 10 12 15
24 33 41 48 10 14 19 10 13 15
25 35 42 50 10 15 19 11 13 16
26 36 44 51 11 15 20 12 14 16
27 38 45 53 11 16 20 12 14 17
28 39 47 54 12 16 21 13 15 17
29 41 48 56 12 17 21 13 15 18
30 42 50 57 13 17 22 14 16 18
31 43 51 58 13 18 22 14 16 19
32 45 52 60 14 18 23 14 16 19
33 46 53 61 14 19 23 15 17 19
34 47 54 62 15 19 24 15 17 20
35 48 55 63 15 20 24 15 18 20
36 49 56 64 16 20 25 16 18 20
37 50 57 65 16 21 25 16 18 21
38 50 58 65 17 21 26 16 18 21
39 51 59 66 17 22 26 16 19 21
40 52 59 67 18 22 26 16 19 21


3D ultrasound has an integral role in the evaluation and diagnosis of craniofacial anomalies. Though not yet validated for routine use in low-risk pregnancies, its use in the context of a detected or suspected craniofacial anomaly is quite apparent. A single midsagittal volume obtained with 3D ultrasound can allow for the evaluation of the sagittal, axial, and coronal views using multiplanar reconstruction. The rendering mode can create a realistic image of the exterior facial features as well as a 3D image of the fetal palate. In order to obtain a volume, a pocket of amniotic fluid needs to be present in front of the fetal face. These techniques can be applied to the routine anatomic survey in the midtrimester as well as the late first trimester. In addition to being used as a diagnostic modality, 3D ultrasound can also help to illustrate the appearance of a particular anomaly and to display the location and severity of the anomaly to consulting surgical specialists as well as families.


As discussed previously, there are multiple displays of 3D ultrasound that can be used to explore a craniofacial anomaly. The multiplanar display allows the simultaneous display of three perpendicular planes—namely, sagittal, axial, and coronal—of the fetal head and face ( Fig. 10-2 ). These planes can be manipulated by the sonographer to highlight the region of interest. The surface rendering mode can be used to create a model of a frontal view of the fetal face ( Fig. 10-3 ). The maximum and transparent modes can be mixed to evaluate the hyperechoic bony structures including the fetal sutures, which can be useful in the diagnosis of craniosynostosis ( Fig. 10-4 ). The same volume may be viewed with both surface rendering and skeletal displays.




FIG 10-2


Three-dimensional ultrasound images of normal fetal face. Multiplanar display demonstrating simultaneously sagittal ( A ), axial ( B ), and coronal views ( C ) of the fetal face.



FIG 10-3


Three-dimensional ultrasound images of fetal face. Surface rendering of the fetal face at 11 weeks ( A ), 19 weeks ( B ), and 37 weeks ( C ).



FIG 10-4


Three-dimensional ultrasound image showing skeleton of the face and skull using maximum/transparent mode. The different sutures and fontanelles are depicted in the coronal ( A ), superior ( B ), and lateral ( C ) views of the skull: 1, bregmatic fontanelle; 2, frontal or metopic suture; 3, coronal suture; 4, parietal suture; 5, sphenoid fontanelle; 6, mastoid suture.


Abnormalities of the fetal hard palate, particularly the secondary palate, can be challenging to evaluate with 2D ultrasonography. Acquiring a volume in the axial plane and then rendering the hard palate from a viewing plane inferior to the palate in an axial plane can be helpful ( Fig. 10-5 ); this approach is a modification of the “flipped face” reported by Platt and colleagues and by Faure and coworkers. Other techniques that have been used include the “reverse face” view using a coronal plane through the hard palate and oblique face views ( Fig. 10-6 ). Parallel slice imaging can use a single 3D volume to create multiple parallel slices, similar to a computed tomography (CT) scan, which can be useful in diagnosing abnormalities of the fetal hard palate ( Fig. 10-7 ). Magnetic resonance imaging (MRI) can be helpful in selected cases to better elucidate fetal craniofacial clefts, particularly when there is a concern for associated neurologic abnormalities.




FIG 10-5


Normal palate at 24 weeks: A, Axial two-dimensional ultrasound image of normal palate showing toothbuds in the anterior alveolar ridge ( solid arrow ), posterior aspect of hard palate ( dashed arrow ), and pharynx (P). B, Axial three-dimensional ultrasound image of normal palate.



FIG 10-6


Three-dimensional ultrasound images showing anterior surface rendering ( A ) and reverse view skeletal rendering ( B ) of the fetal face. The same ultrasound volume is used, and the rendering displays are changed. The reverse view provides an image of the anterior palate and nasal fossa.



FIG 10-7


Three-dimensional ultrasound imaging: Tomographic ultrasound imaging (TUI) (multiple slices) of the fetal palate visualized with an angled approach. Comparing the reference midsagittal view with the coronal slices, the entire secondary palate is clearly demonstrated.




Normal Sonographic Anatomy of the Fetal Face


The fetal face can be evaluated in three different planes using 2D ultrasound—sagittal, axial or transverse, and coronal ( Fig. 10-1 ). Each plane has a unique contribution to the evaluation of fetal craniofacial anatomy. The sagittal plane allows for assessment of the fetal profile and can illustrate any dysmorphism of the forehead or nose and the presence of the nasal bone as well as the positioning of the fetal chin to evaluate for micrognathia or retrognathia ( Table 10-1 ). The axial or transverse plane is integral at two different levels ( Table 10-2 ). The first key image is that of the orbits and eyes, which can be obtained caudad to the image displaying the biparietal diameter. Romero and associates have published nomograms for the various ocular parameters including binocular distance, interocular distance, and ocular diameter ( Table 10-3 ). Moving the transducer further caudad on the fetal head, one arrives at the level of the superior lip and palate followed by the fetal mandible.




FIG 10-1


Normal images of fetal face. A, Sagittal image showing profile. B, Axial image through orbits. C, Axial image through palate showing toothbuds. D, Coronal image showing lips and nostrils.


TABLE 10-1

Normal Appearance of Fetal Facial Features on Ultrasound Image in the Midsagittal Section Plane

From Rotten D, Levaillant JM: Two- and three-dimensional sonographic assessment of the fetal face. 1. A systematic analysis of the normal face. Ultrasound Obstet Gynecol 23:224, 2004.































Structure Normal Appearance
Forehead Almost linear immediately above the articulation between the nasal bones and the frontal bone, followed by a smooth backward bend. This view allows measurement of the thickness of the frontal skin (at the level of the middle of the frontal bend).
Nasal bones Oblique along a frontocaudal direction. This view allows measurement of the length of the nasal bones and of the superior facial angle (angle between the vertical section of the frontal bone and the nasal bones).
Nasal soft tissues The columella is oblique or horizontal but should not be vertical.
Upper lip The philtrum is linear and should present no bulging. This view allows measurement of the length of the philtrum.
Secondary palate Thick echoic line, beginning at the alveolar level, and extending horizontally backward. Its middle is marked by a notch, present on both the superior and inferior edges, and corresponds to the transverse palatal suture. The notch is mostly visible on the superior edge.
Oral cavity The tongue is slightly oblique upward (10-15 degrees). Its tip lies immediately behind the alveolar ridge.
Inferior lip Rests edge to edge with the upper lip. Both lips are arranged along the same axis; there should be no anteroposterior shift between them.
Chin At the level of the vertical line traced on the prefrontal skin (esthetic vertical line of the face).


TABLE 10-2

Normal Appearance of Fetal Facial Features on Ultrasound Image in the Axial Section Planes

From Rotten D, Levaillant JM: Two- and three-dimensional sonographic assessment of the fetal face. 1. A systematic analysis of the normal face. Ultrasound Obstet Gynecol 23:224, 2004.






















Structure Normal Appearance
Orbits The interorbital axis is perpendicular to the strict sagittal axis. This view allows measurement of the inner and outer interorbital lengths.
Nasal septum, molar The nasal septum is perpendicular to the axial plane. The two malar arches are symmetric with regard to arches to the nasal septum.
Upper lip, maxilla There is no lack of continuity of the upper lip. The maxilla appears as a regular, U-shaped echoic bend. The alveolus and tooth buds appear as hypoechoic spots regularly distributed along the alveolar ridge. There is no shift between adjacent alveoli. The hard palate appears as an echoic structure, with a complex shape. The anterior part is semicircular and lies immediately posterior to the alveolar ridge. The posterior part presents as a rectangular figure, with a notch on its distal side. This view allows measurement of the size of the maxilla.
Oral cavity The tongue occupies the totality of the oral cavity and is glued to the alveolar ridge. Posteriorly, the tongue ends at the oropharynx level. This view allows measurement of the width and length of the tongue.
Mandible Appears as a regular V-shaped echoic image. Both hemimandibles are almost rectilinear. The symphysis menti is clearly visible. The alveoli appear as regularly distributed hypoechoic spots. This view allows measurement of the size of the mandible (e.g., mandible width and computation of mandible width/maxilla width ratio).


TABLE 10-3

Nomograms for Growth of the Ocular Parameters, by Percentile

From Romero R, Pilu G, Jeanty P, et al: Prenatal Diagnosis of Congenital Anomalies. Norwalk, CT, Appleton & Lange, 1988, p 83.





























































































































































































































































































































































Age (Weeks) BINOCULAR DISTANCE (mm) INTEROCULAR DISTANCE (mm) OCULAR DIAMETER (mm)
5th 50th 95th 5th 50th 95th 5th 50th 95th
11 5 13 20 — — — — — —
12 8 15 23 4 9 13 1 3 6
13 10 18 25 5 9 14 2 4 7
14 13 20 28 5 10 14 3 5 8
15 15 22 30 6 10 14 4 6 9
16 17 25 32 6 10 15 5 7 9
17 19 27 34 6 11 15 5 8 10
18 22 29 37 7 11 16 6 9 11
19 24 31 39 7 12 16 7 9 12
20 26 33 41 8 12 17 8 10 13
21 28 35 43 8 13 17 8 11 13
22 30 37 44 9 13 18 9 12 14
23 31 39 46 9 14 18 10 12 15
24 33 41 48 10 14 19 10 13 15
25 35 42 50 10 15 19 11 13 16
26 36 44 51 11 15 20 12 14 16
27 38 45 53 11 16 20 12 14 17
28 39 47 54 12 16 21 13 15 17
29 41 48 56 12 17 21 13 15 18
30 42 50 57 13 17 22 14 16 18
31 43 51 58 13 18 22 14 16 19
32 45 52 60 14 18 23 14 16 19
33 46 53 61 14 19 23 15 17 19
34 47 54 62 15 19 24 15 17 20
35 48 55 63 15 20 24 15 18 20
36 49 56 64 16 20 25 16 18 20
37 50 57 65 16 21 25 16 18 21
38 50 58 65 17 21 26 16 18 21
39 51 59 66 17 22 26 16 19 21
40 52 59 67 18 22 26 16 19 21

Only gold members can continue reading. Log In or Register to continue

Related posts:

  1. Ultrasound Evaluation of the Fetal Gastrointestinal Tract and Abdominal Wall
  2. Amniotic Fluid Volume in Fetal Health and Disease
  3. Ultrasound Evaluation of the Fallopian Tube
  4. Ultrasound Evaluation of the Uterus

Stay updated, free articles. Join our Telegram channel
Tags:
Nov 8, 2019 | Posted by in GYNECOLOGY | Comments Off on Ultrasound Evaluation of the Fetal Face and Neck

Full access? Get Clinical Tree
Get Clinical Tree app for offline access