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Chapter 33 ■ The Fetal Face and Neck 1187
T
A
T
C
D
B
T
FE
FIGURE 33-23. Macroglossia. A, Macroglossia with Beckwith-Wiedemann syndrome at 33 weeks’ gestation. Note the enlarged
tongue (arrow) protruding from the mouth (curved arrows, lips). B to F, Macroglossia in association with lymphatic malformation at 35
weeks’ gestation. B and C, Coronal and sagittal sonograms show tongue protrusion (T) secondary to a lymphatic malformation involving
both sides of the face and infiltrating the base of the tongue. D, Coronal sonogram shows the complex facial mass (cursors). E and F, Sagit-
tal and coronal MR images show macroglossia (T) and the lymphatic malformation (arrows) infiltrating the deep facial structures.
1188 PART IV ■ Obstetric Sonography
A B
FIGURE 33-24. Micrognathia with Pierre-Robin sequence. A, Sonographic, and B, MR, profiles of a 20-week fetus with
Pierre-Robin sequence show severe micrognathia/retrognathia (arrow). At follow-up at age 5 (not shown), the child is tracheostomy
dependent secondary to airway issues.
Micrognathia and Retrognathia
Micrognathia is a small chin, and retrognathia (retrognathism) is a posteriorly displaced chin. These are
distinct abnormalities that frequently occur together.
Pierre-Robin sequence is the term used to describe an
abnormally small and often posteriorly displaced lower
jaw with associated cleft soft palate (Fig. 33-24). This
finding is associated with syndromes (e.g., Stickler,
velocardio facial, Miller-Diecker, Beckwith-Wiedemann,
Treacher Collins, Pfeiffer), chromosomal anomalies
(typically trisomy 18 or 13), and skeletal dysplasias (e.g.,
diastrophic, spondyloepiphyseal, congenital, camptomelic). If the abnormality is severe enough to interfere with
fetal swallowing in utero, polyhydramnios may result.
Micrognathia can lead to substantial feeding difficulties
and problems with airway management after birth.
Micrognathia is best seen on midsagittal views of the
fetal face and is identified by subjective assessment by
the sonologist. Although there have been attempts to
standardize fetal jaw measurements
82-84
to identify micrognathia more objectively, there is no consensus on
methodology. Three-dimensional sonography offers an
additional method for the evaluation of micrognathia,
because 2-D data can be manipulated to obtain a true
sagittal view of the fetal face, which might otherwise not
be possible.
tional abnormalities,
85
Many fetuses with micrognathia have addi-
86
so the physician should carefully
search for associated anomalies, and fetal karyotyping is
recommended.
Agnathia is total or partial absence of the lower jaw
and is often associated with holoprosencephaly (Fig.
33-25). Microstomia is a small mouth, often associated
with agnathia and otocephaly.
5
SOFT TISSUE TUMORS
Soft tissue or bony tumors can cause alterations in head
size or shape. A relatively common soft tissue lesion
involving the face is a hemangioma (Fig. 33-26). Vascu-
lar anomalies such as hemangiomas are the most common
tumors of infancy, and most are medically insignificant.
On fetal sonography, hemangiomas often present as
echogenic, predominantly solid masses. These masses
may contain detectable vascular channels with flow on
Doppler ultrasound evaluation. Hemangiomas often
increase in size during fetal life and can be infiltrative,
affecting large areas. Classically, hemangiomas do not
infiltrate bony structures. Hemangiomas can occur in any
location and can involve the fetal face or neck. The adjacent skull may be thinner and may be associated with
brain anomalies as in Sturge-Weber syndrome.
87-90
NECK ABNORMALITIES
Nuchal Translucency
and Thickening
The nuchal translucency (NT) is the fluid collection
that forms posterior to the fetal neck during early
development. Studies have shown that thickened-NT
measurements in the first trimester are associated with
Chapter 33 ■ The Fetal Face and Neck 1189
A B
FIGURE 33-25. Agnathia microstomia. A, Sagittal sonogram, and B, MR image, show the absent mandible. This is the same
fetus as in Figs. 33-9, A, and 33-16, A.
fetal aneuploidy, cardiac defects, other major malformations, and adverse pregnancy outcome.
91-95
In the
second trimester, the nuchal fold thickness is measured in the suboccipital bregmatic plane. A measurement of 6 mm or greater from 15 to 22 weeks is
associated with an increased risk of trisomy 21.
96,97
The
measurement is taken in the midline from outer edge
of the occipital bone to the outer edge of the skin (see
Chapter 31).
Lymphatic Malformation
(Cystic Hygroma)
Lymphatic malformation, known historically as cystic
hygroma, is a septated fluid collection behind the fetal
neck, thought to result from early maldevelopment of the
lymphatic system. This abnormality is highly associated
with Turner syndrome (XO), other chromosomal anom-
alies, and cardiac structural abnormalities. When associated with hydrops, fetal mortality is very high. As with an
increased NT, if a lymphatic malformation is diagnosed
and chromosomes are found to be normal, the fetus should
still be carefully evaluated for cardiac abnormalities.
Lymphatic malformations can occur elsewhere in the
head and neck and may be microcystic or macrocystic.
They are presumed to result from obstructed lymphatic
sacs that do not communicate with main lymphatic
channels. Although benign, morbidity is associated with
mass effect on the fetal airway when such masses arise in
the face and neck (Fig. 33-27). In this setting, fetal MRI
is often useful for evaluation of the fetal airway and for
delivery planning. Fluid-filled lymphatic malformations,
even when large, are much more malleable than solid
teratomas of the head and neck and are less likely to
compromise the airway. When these malformations
involve the tongue, cystic hygromas may interfere with
swallowing and feeding after birth.
Cervical Teratoma
Teratoma is the most common tumor in neonates, with
the majority located at the sacrum and coccyx. Approximately 5% of teratomas arise in the neck or oropharynx.
Cervical teratomas occur equally in males and females.
98
Sonographically, teratomas are usually complex masses
composed of both cystic and solid elements and are often
associated with regions of calcification. There is usually
vascular flow within the solid portions of the mass.
In the neck, they are usually anterolateral in location
and can become quite large, often involving the thyroid
gland. When they arise in the neck, teratomas may
impinge on the airway, interfere with fetal swallowing,
and result in polyhydramnios. Evaluation of the fetal
airway is particularly important to delivery planning and
is often best accomplished with fetal MRI (Fig. 33-28).
When teratomas arise in the neck, there can be hyperextension of the fetal neck, best seen in sagittal views.
Teratomas of the oropharynx (epignathus) often protrude from the mouth. Although most teratomas are
histologically benign, prognosis depends on the degree
of mass effect on the trachea and the ability to secure
the infant’s airway at delivery. If there is substantial
mass effect on the airway, the ex utero intrapartum
treatment (EXIT) procedure may be necessary. This
complex procedure requires a team of specialists for the
mother and fetus and involves cesarean delivery, with
1190 PART IV ■ Obstetric Sonography
A
C
D
B
FE
FIGURE 33-26. Hemangioma at 30 weeks’ gestation. A, Axial sonogram shows a large, lateral and posterior soft tissue
scalp mass (arrows). B, High-frequency coned-down view illustrates the heterogeneous echogenicity of the mass. C, Power Doppler view
demonstrates the vascularity of the mass. D, Oblique sonogram of the fetal chest and neck show a greatly enlarged superior vena cava
(arrowheads). The heart was also enlarged, and the fetus was in heart failure from the volume of blood circulating through the scalp mass.
E, Coronal prenatal, and F, postnatal, MR images show the left scalp mass (arrows).
Chapter 33 ■ The Fetal Face and Neck 1191
A B
FIGURE 33-27. Cervical lymphatic malformation at 29 weeks’ gestation (cystic hygroma). A, Axial sonogram,
and B, sagittal MR image, of a 29-week fetus with a septated cystic mass in the neck, consistent with a lymphatic malformation.
preservation of the maternal-fetal circulation through the
placenta until the neonatal airway can be secured.
99-103
Thyromegaly and Goiter
Fetal goiter is rare (1 : 30,000-50,000 live births)
104
and
most often related to maternal thyroid disease, such as
Graves’ disease or Hashimoto’s thyroiditis, with antibodies that cross the placenta and lead to fetal thyroid
dysfunction. Maternal use of thyroid blocking agents
(e.g., propylthiouracil) may also result in fetal goiter.
Primary fetal thyroid dysfunction may also cause goiter.
Fetal goiter presents as a midline homogeneous solid
mass in the anterior neck surrounding the trachea (Fig.
33-29). There may be increased blood flow to the goiter.
When large, fetal goiters cause hyperextension of the
neck, leading to interference with fetal swallowing and
resultant polyhydramnios. Neck hyperextension can lead
to fetal malpresentation and can cause difficulties at
delivery. Cordocentesis may be necessary to determine if
there is fetal hypothyroidism or hyperthyroidism. In the
setting of fetal hypothyroidism, treatment with intraamniotic thyroid hormone will often lead to a decrease
in size of the fetal goiter.
105
Following treatment with
intrauterine thyroxine, fetal goiter may decrease in size,
and hyperextension of the fetal neck may resolve. In cases
of fetal hyperthyroidism, it is important to evaluate for
fetal tachycardia and high-output cardiac failure.
CONCLUSION
Prenatal sonographic evaluation of the fetal face and
neck offers an opportunity to identify many abnormalities. These observations are often essential to prenatal
counseling and prognosis because of the association of
many of these abnormalities with syndromes and chromosomal anomalies. Appropriate diagnosis of abnormalities allows for planning of the appropriate mode of
delivery and therapy when the fetal airway is potentially
compromised.
Acknowledgments
We would like to acknowledge with gratitude the assistance of librarians Alison Clapp and Miriam Geller and
the administrative assistance of Susan Ivey, Department
of Radiology, at Children’s Hospital Boston. Special
thanks also to Ants Toi, MD, for the discussion on
craniosynostosis.
1192 PART IV ■ Obstetric Sonography
A
C
B
FIGURE 33-28. Cervical teratoma. A and B, 2-D
and 3-D sagittal sonograms of a 20-week fetus with a
complex solid and cystic neck mass, which was a cervical
teratoma. C, Sagittal MR image of same fetus at 34 weeks’
gestation.
Chapter 33 ■ The Fetal Face and Neck 1193
A
C
B
D
FIGURE 33-29. Fetal goiter. A and B, 2-D and
3-D images of neck hyperextension in fetus with goiter
at 24 weeks’ gestation. C, Different fetus at 30 weeks’
gestation with goiter. Coronal sonogram shows bilaterally enlarged thyroid lobes (arrows) surrounding the
normal midline trachea. D, Axial, and E, coronal, MR
E
images show that the enlarged fetal thyroid gland
(arrows) does not compromise the airway.
1194 PART IV ■ Obstetric Sonography
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