US Assessment of the Fetal Head and Neck: A State-of-the-Art Pictorial Review1
John R. Mernagh, MD, PhD, FRCPC,
Patrick T. Mohide, MD, FRCSC, MSc(DME),
Raymond E. Lappalainen, RDMS and
James G. Fedoryshin, RDMS
1 From the Departments of Radiology (J.R.M., R.L., J.F.) and Obstetrics and Gynecology (P.M.), McMaster University Medical Centre, 1200 Main St W, Hamilton, Ontario, Canada L8N 3Z5. Presented as a scientific exhibit at the 1998 RSNA scientific assembly. Received February 11, 1999; revisions requested March 4 and received March 31; accepted April 5. Address reprint requests to J.R.M.

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Figure 1a. Normal fetal head and neck. (a) Transverse image through the fetal head shows a normal nuchal fold thickness (arrowheads). The cursors measure a normal nuchal fold thickness of 3.9 mm. (b) Sagittal image through the fetal head shows a normal facial profile. (c) Coronal image of the fetal face shows the eyes, nose, and mouth. (d) Coronal image of the fetal nose (single arrowhead) and lips (double arrowheads). (e) Sagittal image of the fetal cervical spine. (f) Transverse image through the fetal orbits, with measurements indicated for the biorbital and interorbital distances (cursors).
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Figure 1b. Normal fetal head and neck. (a) Transverse image through the fetal head shows a normal nuchal fold thickness (arrowheads). The cursors measure a normal nuchal fold thickness of 3.9 mm. (b) Sagittal image through the fetal head shows a normal facial profile. (c) Coronal image of the fetal face shows the eyes, nose, and mouth. (d) Coronal image of the fetal nose (single arrowhead) and lips (double arrowheads). (e) Sagittal image of the fetal cervical spine. (f) Transverse image through the fetal orbits, with measurements indicated for the biorbital and interorbital distances (cursors).
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Figure 1c. Normal fetal head and neck. (a) Transverse image through the fetal head shows a normal nuchal fold thickness (arrowheads). The cursors measure a normal nuchal fold thickness of 3.9 mm. (b) Sagittal image through the fetal head shows a normal facial profile. (c) Coronal image of the fetal face shows the eyes, nose, and mouth. (d) Coronal image of the fetal nose (single arrowhead) and lips (double arrowheads). (e) Sagittal image of the fetal cervical spine. (f) Transverse image through the fetal orbits, with measurements indicated for the biorbital and interorbital distances (cursors).
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Figure 1d. Normal fetal head and neck. (a) Transverse image through the fetal head shows a normal nuchal fold thickness (arrowheads). The cursors measure a normal nuchal fold thickness of 3.9 mm. (b) Sagittal image through the fetal head shows a normal facial profile. (c) Coronal image of the fetal face shows the eyes, nose, and mouth. (d) Coronal image of the fetal nose (single arrowhead) and lips (double arrowheads). (e) Sagittal image of the fetal cervical spine. (f) Transverse image through the fetal orbits, with measurements indicated for the biorbital and interorbital distances (cursors).
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Figure 1e. Normal fetal head and neck. (a) Transverse image through the fetal head shows a normal nuchal fold thickness (arrowheads). The cursors measure a normal nuchal fold thickness of 3.9 mm. (b) Sagittal image through the fetal head shows a normal facial profile. (c) Coronal image of the fetal face shows the eyes, nose, and mouth. (d) Coronal image of the fetal nose (single arrowhead) and lips (double arrowheads). (e) Sagittal image of the fetal cervical spine. (f) Transverse image through the fetal orbits, with measurements indicated for the biorbital and interorbital distances (cursors).
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Figure 1f. Normal fetal head and neck. (a) Transverse image through the fetal head shows a normal nuchal fold thickness (arrowheads). The cursors measure a normal nuchal fold thickness of 3.9 mm. (b) Sagittal image through the fetal head shows a normal facial profile. (c) Coronal image of the fetal face shows the eyes, nose, and mouth. (d) Coronal image of the fetal nose (single arrowhead) and lips (double arrowheads). (e) Sagittal image of the fetal cervical spine. (f) Transverse image through the fetal orbits, with measurements indicated for the biorbital and interorbital distances (cursors).
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Figure 2a. Thickened nuchal fold. (a) Transverse image through the fetal head shows a thickened nuchal fold. In this fetus, the nuchal fold measured 6.4 mm in maximum thickness, as indicated by the cursors. (b) Four chamber view of the fetal heart shows an associated endocardial cushion defect (arrow).
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Figure 2b. Thickened nuchal fold. (a) Transverse image through the fetal head shows a thickened nuchal fold. In this fetus, the nuchal fold measured 6.4 mm in maximum thickness, as indicated by the cursors. (b) Four chamber view of the fetal heart shows an associated endocardial cushion defect (arrow).
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Figure 3a. Cystic hygroma. (a) Transverse image through the fetal head shows a small cystic structure in the posterior aspect of the neck (arrows and cursors). (b) Sagittal image through the fetal head and neck again shows the small cystic structure in the posterior aspect of the neck (arrows and cursors). In this particular case, no other significant fetal abnormalities were noted.
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Figure 3b. Cystic hygroma. (a) Transverse image through the fetal head shows a small cystic structure in the posterior aspect of the neck (arrows and cursors). (b) Sagittal image through the fetal head and neck again shows the small cystic structure in the posterior aspect of the neck (arrows and cursors). In this particular case, no other significant fetal abnormalities were noted.
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Figures 4, 5. (4) Occipital meningocele with an associated Dandy-Walker cyst. (a) Transverse image through the fetal head shows a large cystic structure outside the calvaria in the occipital region (arrows). A large cystic structure is also seen in the posterior fossa, consistent with a Dandy-Walker cyst (arrowheads). (b) Sagittal image through the fetal head and neck shows the large cystic structure in the occipital region. A small defect is seen in the cranium at the base of the cyst (arrowhead). (5) Severe encephalocele. Transverse image through the fetal head shows a large posterior herniation of brain tissue, consistent with a large encephalocele (arrows).
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Figures 4, 5. (4) Occipital meningocele with an associated Dandy-Walker cyst. (a) Transverse image through the fetal head shows a large cystic structure outside the calvaria in the occipital region (arrows). A large cystic structure is also seen in the posterior fossa, consistent with a Dandy-Walker cyst (arrowheads). (b) Sagittal image through the fetal head and neck shows the large cystic structure in the occipital region. A small defect is seen in the cranium at the base of the cyst (arrowhead). (5) Severe encephalocele. Transverse image through the fetal head shows a large posterior herniation of brain tissue, consistent with a large encephalocele (arrows).
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Figures 4, 5. (4) Occipital meningocele with an associated Dandy-Walker cyst. (a) Transverse image through the fetal head shows a large cystic structure outside the calvaria in the occipital region (arrows). A large cystic structure is also seen in the posterior fossa, consistent with a Dandy-Walker cyst (arrowheads). (b) Sagittal image through the fetal head and neck shows the large cystic structure in the occipital region. A small defect is seen in the cranium at the base of the cyst (arrowhead). (5) Severe encephalocele. Transverse image through the fetal head shows a large posterior herniation of brain tissue, consistent with a large encephalocele (arrows).
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Figures 6, 7. (6) Micrognathia associated with a Dandy-Walker variant. (a) Sagittal view of the fetal facial profile shows a small mandible, consistent with micrognathia (arrow). (b) Transverse image through the fetal abdomen shows an associated single umbilical artery (arrows). (c) Transverse image through the fetal kidneys shows bilateral obstruction of the ureteropelvic junction (arrows). (d) Transverse image through the fetal head shows a cleft in the cerebellar vermis consistent with a Dandy-Walker variant (arrow). (7) Micrognathia. Sagittal image of the facial profile of a fetus shows a more obvious example of micrognathia (arrowhead).
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Figures 6, 7. (6) Micrognathia associated with a Dandy-Walker variant. (a) Sagittal view of the fetal facial profile shows a small mandible, consistent with micrognathia (arrow). (b) Transverse image through the fetal abdomen shows an associated single umbilical artery (arrows). (c) Transverse image through the fetal kidneys shows bilateral obstruction of the ureteropelvic junction (arrows). (d) Transverse image through the fetal head shows a cleft in the cerebellar vermis consistent with a Dandy-Walker variant (arrow). (7) Micrognathia. Sagittal image of the facial profile of a fetus shows a more obvious example of micrognathia (arrowhead).
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Figures 6, 7. (6) Micrognathia associated with a Dandy-Walker variant. (a) Sagittal view of the fetal facial profile shows a small mandible, consistent with micrognathia (arrow). (b) Transverse image through the fetal abdomen shows an associated single umbilical artery (arrows). (c) Transverse image through the fetal kidneys shows bilateral obstruction of the ureteropelvic junction (arrows). (d) Transverse image through the fetal head shows a cleft in the cerebellar vermis consistent with a Dandy-Walker variant (arrow). (7) Micrognathia. Sagittal image of the facial profile of a fetus shows a more obvious example of micrognathia (arrowhead).
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Figures 6, 7. (6) Micrognathia associated with a Dandy-Walker variant. (a) Sagittal view of the fetal facial profile shows a small mandible, consistent with micrognathia (arrow). (b) Transverse image through the fetal abdomen shows an associated single umbilical artery (arrows). (c) Transverse image through the fetal kidneys shows bilateral obstruction of the ureteropelvic junction (arrows). (d) Transverse image through the fetal head shows a cleft in the cerebellar vermis consistent with a Dandy-Walker variant (arrow). (7) Micrognathia. Sagittal image of the facial profile of a fetus shows a more obvious example of micrognathia (arrowhead).
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Figures 6, 7. (6) Micrognathia associated with a Dandy-Walker variant. (a) Sagittal view of the fetal facial profile shows a small mandible, consistent with micrognathia (arrow). (b) Transverse image through the fetal abdomen shows an associated single umbilical artery (arrows). (c) Transverse image through the fetal kidneys shows bilateral obstruction of the ureteropelvic junction (arrows). (d) Transverse image through the fetal head shows a cleft in the cerebellar vermis consistent with a Dandy-Walker variant (arrow). (7) Micrognathia. Sagittal image of the facial profile of a fetus shows a more obvious example of micrognathia (arrowhead).
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Figure 8a. Cleft lip with associated abnormalities. (a) Coronal image of the fetal nose and lips shows a cleft in the upper lip (arrow). (b) Second coronal image of the fetal nose and lips again shows the cleft in the upper lip (arrow). (c) Transverse image of the fetal head shows associated bilateral choroid plexus cysts (arrowheads). (d) Coronal image of the fetal head shows low-set "elfin" ears (arrows).
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Figure 8b. Cleft lip with associated abnormalities. (a) Coronal image of the fetal nose and lips shows a cleft in the upper lip (arrow). (b) Second coronal image of the fetal nose and lips again shows the cleft in the upper lip (arrow). (c) Transverse image of the fetal head shows associated bilateral choroid plexus cysts (arrowheads). (d) Coronal image of the fetal head shows low-set "elfin" ears (arrows).
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Figure 8c. Cleft lip with associated abnormalities. (a) Coronal image of the fetal nose and lips shows a cleft in the upper lip (arrow). (b) Second coronal image of the fetal nose and lips again shows the cleft in the upper lip (arrow). (c) Transverse image of the fetal head shows associated bilateral choroid plexus cysts (arrowheads). (d) Coronal image of the fetal head shows low-set "elfin" ears (arrows).
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Figure 8d. Cleft lip with associated abnormalities. (a) Coronal image of the fetal nose and lips shows a cleft in the upper lip (arrow). (b) Second coronal image of the fetal nose and lips again shows the cleft in the upper lip (arrow). (c) Transverse image of the fetal head shows associated bilateral choroid plexus cysts (arrowheads). (d) Coronal image of the fetal head shows low-set "elfin" ears (arrows).
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Figure 9a. Cleft lip and palate. (a) Coronal image of the fetal nose and lips shows a cleft upper lip (arrow). (b) Transverse image through the palate shows a cleft in the palate (arrow).
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Figure 9b. Cleft lip and palate. (a) Coronal image of the fetal nose and lips shows a cleft upper lip (arrow). (b) Transverse image through the palate shows a cleft in the palate (arrow).
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Figure 10a. Macroglossia. (a) Sagittal image through the fetal facial profile shows a protruding tongue (arrow). (b) Coronal image of the fetal face again shows a protruding tongue, consistent with macroglossia (arrow). The finding was subtle but was persistent throughout the US examination. It was also seen on more than one examination of the same fetus. The presence of macroglossia was confirmed at postnatal examination.
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Figure 10b. Macroglossia. (a) Sagittal image through the fetal facial profile shows a protruding tongue (arrow). (b) Coronal image of the fetal face again shows a protruding tongue, consistent with macroglossia (arrow). The finding was subtle but was persistent throughout the US examination. It was also seen on more than one examination of the same fetus. The presence of macroglossia was confirmed at postnatal examination.
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Figure 11a. Lymphangioma of the tongue. (a) Sagittal image through the fetal face shows a protruding tongue (arrow) (cf Fig 10). (b) Coronal image through the fetal face again shows the protruding tongue (arrow), but no other abnormalities were seen. At postnatal examination, a mass was found at the base of the protruding tongue. The mass was surgically removed and proved to be a lymphangioma.
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Figure 11b. Lymphangioma of the tongue. (a) Sagittal image through the fetal face shows a protruding tongue (arrow) (cf Fig 10). (b) Coronal image through the fetal face again shows the protruding tongue (arrow), but no other abnormalities were seen. At postnatal examination, a mass was found at the base of the protruding tongue. The mass was surgically removed and proved to be a lymphangioma.
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Figure 12a. Lacrimal duct cysts. (a) Coronal image of the fetal face shows two small cysts adjacent and anteromedial to both the right and left orbits (cursors). (b) Sagittal image through the left orbit again shows the small cyst (cursors). Because of their location, the cysts were thought to be lacrimal duct cysts, a diagnosis that was confirmed at postnatal examination. No other significant abnormalities were noted.
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Figure 12b. Lacrimal duct cysts. (a) Coronal image of the fetal face shows two small cysts adjacent and anteromedial to both the right and left orbits (cursors). (b) Sagittal image through the left orbit again shows the small cyst (cursors). Because of their location, the cysts were thought to be lacrimal duct cysts, a diagnosis that was confirmed at postnatal examination. No other significant abnormalities were noted.
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Figure 13a. Teratoma with neural elements. (a) Transverse image through both fetal orbits shows a complex cystic and solid mass involving the left orbit (arrowheads). The orbit was enlarged and deformed, and the left globe could not be identified. The right orbit appeared normal. The differential diagnosis includes an orbital teratoma and an orbital encephalocele. (b) Transverse image through the left orbit shows the complex cystic and solid mass (arrowheads and cursors). The findings were confirmed at postnatal examination. The mass was excised, and pathologic examination revealed a teratoma with neural elements.
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Figure 13b. Teratoma with neural elements. (a) Transverse image through both fetal orbits shows a complex cystic and solid mass involving the left orbit (arrowheads). The orbit was enlarged and deformed, and the left globe could not be identified. The right orbit appeared normal. The differential diagnosis includes an orbital teratoma and an orbital encephalocele. (b) Transverse image through the left orbit shows the complex cystic and solid mass (arrowheads and cursors). The findings were confirmed at postnatal examination. The mass was excised, and pathologic examination revealed a teratoma with neural elements.
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Figure 14a. Hypotelorism with associated brain abnormalities. (a) Transverse image through the fetal orbits shows the interorbital and biorbital distances (cursors) . The chronologic age of the fetus was 19.9 weeks; however, the age based on the interorbital distance was 13 weeks. The age based on the biorbital distance was consistent with 20.0 weeks. (b) Transverse image through the fetal head shows significant associated brain abnormalities with severe atrophy of the cerebral cortex.
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Figure 14b. Hypotelorism with associated brain abnormalities. (a) Transverse image through the fetal orbits shows the interorbital and biorbital distances (cursors) . The chronologic age of the fetus was 19.9 weeks; however, the age based on the interorbital distance was 13 weeks. The age based on the biorbital distance was consistent with 20.0 weeks. (b) Transverse image through the fetal head shows significant associated brain abnormalities with severe atrophy of the cerebral cortex.
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Figure 15a. Laryngeal atresia. (a) Coronal image through the fetal neck and chest shows the fluid-filled, dilated trachea and bronchi (arrows). The lungs are enlarged and hyperechoic. (b) Sagittal image of the fetal neck and chest again shows the hyperechoic lungs and the dilated, filled trachea (arrows). (c) Sagittal Doppler image of the fetal neck and chest shows the dilated trachea adjacent to the neck vessels. (d) Coronal image through the fetal chest and abdomen shows the enlarged hyperechoic lungs adjacent to the liver. Note the concave shape of the hemidiaphragms toward the liver, secondary to the enlarged lungs (straight arrows). Ascites is also seen adjacent to the liver (curved arrow).
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Figure 15b. Laryngeal atresia. (a) Coronal image through the fetal neck and chest shows the fluid-filled, dilated trachea and bronchi (arrows). The lungs are enlarged and hyperechoic. (b) Sagittal image of the fetal neck and chest again shows the hyperechoic lungs and the dilated, filled trachea (arrows). (c) Sagittal Doppler image of the fetal neck and chest shows the dilated trachea adjacent to the neck vessels. (d) Coronal image through the fetal chest and abdomen shows the enlarged hyperechoic lungs adjacent to the liver. Note the concave shape of the hemidiaphragms toward the liver, secondary to the enlarged lungs (straight arrows). Ascites is also seen adjacent to the liver (curved arrow).
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Figure 15c. Laryngeal atresia. (a) Coronal image through the fetal neck and chest shows the fluid-filled, dilated trachea and bronchi (arrows). The lungs are enlarged and hyperechoic. (b) Sagittal image of the fetal neck and chest again shows the hyperechoic lungs and the dilated, filled trachea (arrows). (c) Sagittal Doppler image of the fetal neck and chest shows the dilated trachea adjacent to the neck vessels. (d) Coronal image through the fetal chest and abdomen shows the enlarged hyperechoic lungs adjacent to the liver. Note the concave shape of the hemidiaphragms toward the liver, secondary to the enlarged lungs (straight arrows). Ascites is also seen adjacent to the liver (curved arrow).
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Figure 15d. Laryngeal atresia. (a) Coronal image through the fetal neck and chest shows the fluid-filled, dilated trachea and bronchi (arrows). The lungs are enlarged and hyperechoic. (b) Sagittal image of the fetal neck and chest again shows the hyperechoic lungs and the dilated, filled trachea (arrows). (c) Sagittal Doppler image of the fetal neck and chest shows the dilated trachea adjacent to the neck vessels. (d) Coronal image through the fetal chest and abdomen shows the enlarged hyperechoic lungs adjacent to the liver. Note the concave shape of the hemidiaphragms toward the liver, secondary to the enlarged lungs (straight arrows). Ascites is also seen adjacent to the liver (curved arrow).
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Figure 16. Teratoma. Sagittal image of the fetal head and neck shows a large complex mass anterior in the neck (arrows and cursors). Postnatal diagnosis was a teratoma.
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Figure 17a. Enlarged thyroid. (a) Sagittal split-screen image of the fetal neck shows a small hypoechoic mass (arrowhead) in the lower anterior portion of the neck. (b) Transverse image of the fetal neck again shows the small hypoechoic mass (arrowhead). At postnatal examination, the mass proved to be an enlarged thyroid.
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Figure 17b. Enlarged thyroid. (a) Sagittal split-screen image of the fetal neck shows a small hypoechoic mass (arrowhead) in the lower anterior portion of the neck. (b) Transverse image of the fetal neck again shows the small hypoechoic mass (arrowhead). At postnatal examination, the mass proved to be an enlarged thyroid.
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Copyright © 1999 by the Radiological Society of North America.