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B
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FIGURE 33-12. Hypertelorism with exorbitism in fetus with Pfeiffer syndrome. A, Axial sonogram demonstrates
hypertelorism (cursors: +, outer orbital diameter; x, inner orbital diameter) at 22 weeks’ gestation. The outer orbital diameter was consistent
with 25 weeks and 3 days (3 weeks greater than age by dates). B and C, Axial and coronal sonograms show abnormally protuberant globe
(exorbitism, arrow). D, Coronal MR image shows hypertelorism and bilateral cleft palate. Note the communication of the oropharynx
with the nasopharynx, caused by defect in the palate above the tongue (T).
D
A B
FIGURE 33-13. Microphthalmia/anophthalmia at 34 weeks’ gestation. A, Axial sonogram, and B, coronal MR image,
show right anophthalmia (arrowhead) and left microphthalmia (arrow).
1178 PART IV ■ Obstetric Sonography
ASSOCIATIONS WITH
MICROPHTHALMOS
Single-gene disorders
Walker-Warburg syndrome
Fraser (cryptophthalmos) syndrome
Meckel Gruber syndrome
Chromosomal abnormalities
Trisomy 13
Trisomy 18
Drugs/irradiation
Ionizing radiation (4-11 weeks)
Ethanol
Thalidomide
Isotretinoin (retinoic acid)
Maternal disease
Diabetes
Cytomegalovirus
Rubella
Toxoplasmosis
Other
Encephalocele
Orbital tumors
CHARGE syndrome
VATER association
CHARGE, Coloboma, heart defects, choanal atresia,
growth/development restriction, genital/ear anomalies;
VATER, vertebral defect, imperforate anus,
tracheoesophageal fistula, radial and renal dysplasia.
inferomedial to the orbit in the expected location of the
nasolacrimal duct. There is usually no mass effect on the
globe, and there is no increased vascular flow in or
around these masses. Diagnosis is usually made after 30
weeks’ gestation; the nasolacrimal ducts do not complete
canalization until the third trimester.
37
The characteristic
appearance and location of dacryocystoceles should
allow differentiation from other facial masses, such as
teratomas (often solid or mixed cystic and solid, and
may contain calcifications) or hemangiomas (solid,
echogenic sonographic appearance, with increased vascular flow). The natural history of dacryocystoceles is
variable, with some resolving in utero, or postnatally
with conservative measures such as massage and application of warm compresses, and others requiring probing
or surgical intervention after birth.
38
DIFFERENTIAL DIAGNOSIS OF
CONGENITAL CATARACTS
Arthrogryposis
Chondrodysplasia punctata
Congenital aniridia
Congenital ichthyosis
Chromosomal abnormalities (21, 18, 13)
C6PD deficiency
Homocystinuria
Hypochondroplasia
Microphthalmia
Infection
Rubella
Toxoplasmosis
Syndromes
Marfan
Neu-Laxova
Smith-Lemli-Opitz
Walker-Warburg
X-linked cataract (Hutterite)
G6PD, Glucose-6-phosphate dehydrogenase.
EAR ABNORMALITIES
Abnormalities of the ears can be very difficult to diagnose
on fetal sonography, but low-set ears are associated with
multiple syndromes, including Noonan syndrome and
certain trisomies. Low-set ears are described as the helix
joining the cranium at a level below a horizontal plane
through the inner canthi of the eyes. Ear anomalies may
be more easily detected on 3-D sonography than on 2-D
40
studies
incidence of approximately 1:10,000 live births
often associated with syndromes and aneuploidy. Of 96
aneuploid fetuses, Yeo et al.
small (<10th percentile) ears on sonography.
the front of the neck and is caused by failure of ascent
of the auricles during embryologic development. This is
generally a fatal anomaly, often associated with agnathia
or micrognathia, as well as holoprosencephaly. The most
severe form of otocephaly may be associated with absence
of the eyes, forebrain, and mouth.
(Fig. 33-16).
Microtia, or small ears, is a rare anomaly with an
42
reported that 66% had
41
and is
Otocephaly is a condition with union of the ears on
Congenital Cataracts
Congenital cataracts may be diagnosed on prenatal
sonography, which will show a rounded echogenic mass
in the anterior portion of the globe. Causes of congenital
cataracts include genetic disorders, infection, syndromes,
and microphthalmia.
5
Some cases are inherited by either
autosomal dominant or autosomal recessive transmission. This is a rare disorder, with a reported incidence
of approximately 3:10,000 births.
39
MIDFACE ABNORMALITIES
Hypoplasia
The midface is the area between the upper lip and forehead. Midface hypoplasia can arise from a variety of
causes, including syndromes such as Apert, Crouzon,
Treacher Collins,
Fig. 33-11), Turner, and trisomy 21. Midface hypopla-
sia may also result from facial clefts, craniosynostosis, and
43
Wolf-Hirschhorn,44 Pfeiffer (see
Chapter 33 ■ The Fetal Face and Neck 1179
A
C
B
FIGURE 33-14. Coloboma and microtia in fetus
with holoprosencephaly. A, Axial sonogram of orbits
shows an abnormally small right globe (arrowhead) and a fluidfilled outpouching from the posterior aspect of the left globe
(arrow), consistent with a coloboma. B, Oblique axial image of the
left globe shows the coloboma. C, Axial MR image of the globes
demonstrates bilateral colobomas (arrows) and right microtia.
Note also the brain abnormality with a monoventricle, in the
holoprosencephaly spectrum.
skeletal dysplasias. Midface hypoplasia is best demonstrated on sagittal midline views of the face, where one
can see abnormal concavity of the midface, between the
lower margin of the orbits and the upper jaw (Fig. 33-17).
Absent Nasal Bone
Hypoplastic or absent nasal bone is seen with increased
incidence in fetuses with trisomy 21 and can be evaluated sonographically in the first trimester as part of early
risk assessment. The fetal nasal bone is best evaluated in
a midsagittal plane at sonography (Fig. 33-18). Some
have found that combining data regarding the presence
or absence of the fetal nasal bone with nuchal translucency measurements improves the accuracy of detection
of trisomy 21 at first-trimester screening.
45
Cicero’s initial
study on evaluation of the nasal bone in first-trimester
examinations found that 73% of fetuses with trisomy 21
had an absent nasal bone.
absent nasal bone in 50% to 67% of fetuses with trisomy
46,47
The absence of a nasal bone at second-trimester
21.
45
Other studies have reported
sonography, or abnormally short nasal bone measurements in combination with other markers of aneuploidy,
increases detection of aneuploidy.
48,49
1180 PART IV ■ Obstetric Sonography
A
FIGURE 33-15. Dacryocystocele at 35 weeks’ gestation. A,
Axial sonogram shows fluid collections anteromedial to each orbit, consistent
C
with bilateral dacryocystoceles (arrows). B and C, Axial and sagittal MR images
of a different 35-week fetus with a right dacryocystocele (arrow).
B
A B
FIGURE 33-16.
telorism and agnathia (see Figs. 33-9, A, and 33-25). B, Low-set ear (cursors) in a different fetus, at 20 weeks, who had Pierre-Robin
sequence.
Low-set ears. A, Oblique view of the head of a 19-week fetus with low-set ear (arrow). The fetus also had hypo-
Chapter 33 ■ The Fetal Face and Neck 1181
A
C
B
D
FE
FIGURE 33-17. Midface hypoplasia. A, Midface hypoplasia in association with cleft lip and palate. Sagittal view of the face
shows midface retrusion in a 34-week fetus with unilateral complete left cleft lip and palate. Note the absent palate above the tongue (T).
B, C, and D, Midface hypoplasia in association with microphthalmia seen with sagittal ultrasound, 3-D ultrasound, and MRI, respectively.
E and F, Midface hypoplasia in a fetus with hypertelorism (not shown). E, Sagittal sonogram, and F, MR image, show an abnormally
shaped skull and midface hypoplasia. This is the same fetus as in Fig. 33-12.
1182 PART IV ■ Obstetric Sonography
FIGURE 33-18.
mester fetus with absent nasal bone.
Absent nasal bone. Profile of third-tri-
It is important to note, however, that accurate sonographic evaluation of the fetal nasal bone can be technically challenging. There are specific guidelines for nasal
bone imaging.
50
Studies have shown that even experienced
sonographers need to perform at least 80 supervised examinations that conform to specified standards before they
are proficient in sonographic nasal bone evaluation.
51
Cleft Lip and Palate
Worldwide incidence of cleft lip, with or without cleft
palate, is approximately 1 in 700 live births,
52
with incidence in Caucasians in approximately 1:1000 live births.
The incidence of facial clefting is lower in the AfricanAmerican population (0.3:1000), higher among Asians
(2:1000) and highest in Native Americans (3.6:1000 live
births). It is more common in males than females.
53
These abnormalities usually result from failure of fusion
of the medial nasal prominences and maxillary prominences. Although facial clefts may occur as an isolated
finding, they are present with increased frequency in
chromosomal anomalies, including trisomies 13 and
18, and in other structural anomalies, especially those
involving the heart and central nervous system.
Reports vary, with aneuploidy rates between 5% and
30% in association with facial clefts.
57-59
Thus, identifica-
54-56
tion of a facial cleft should prompt a detailed and complete evaluation of the fetus for additional anomalies.
Some isolated facial clefts are familial, with the recurrence risk dependent on number of affected parents and
siblings.
fetal cleft lip/palate ranges from 16% to 93%.
Robinson et al.
60
Reported accuracy in the sonographic detection of
65
found that sonography performed after
61-66
DIFFERENTIAL DIAGNOSIS OF CLEFT
LIP AND PALATE
Teratogens
Diphenylhydantoin (phenytoin)
Valproic acid
Retinoic acid
Carbamazepine
Diazepam
Amniotic band syndrome
Holoprosencephaly
Ectodermal dysplasia
Frontonasal dysplasia
Robert syndrome
Miller syndrome
Trisomies 13, 18, and 21
Triploidy
20 weeks’ gestation had a significantly higher detection
rate for cleft lip than those studies performed before 20
weeks, and they subsequently recommended that fetuses
at high risk for cleft lip be evaluated after 20 weeks’
gestation. Using state-of-the-art equipment, highfrequency probes, and endovaginal sonography, detection is possible at earlier gestational ages. Some question
the efficiency and utility of 3-D sonography in evaluating clefts,
extremely helpful.
67
but many have found 3-D applications to be
8,68,69
Fetal facial clefts should be described as completely as
possible, using standard craniofacial terminology and
should include accurate description and classification of
the cleft in relation to the lip, nostril, alveolus (maxillary
tooth bearing arc), and secondary palate (Fig. 33-19).
The secondary palate has an anterior, bony segment and
a posterior, soft tissue segment. Both cleft lip and cleft
palate may be unilateral or bilateral.
Information important to the surgeons for accurate
parental counseling, postnatal repair planning, and prognosis includes whether the cleft is unilateral or bilateral
and complete or incomplete. A complete cleft lip is
defined as a cleft that fully divides the lip and extends
completely through the base of the ala of the nose and
that usually is associated with a cleft of the underlying
tooth-bearing alveolus as well. An incomplete cleft lip
involves a portion of the lip, but at least a band of soft
tissue spans the cleft. Incomplete cleft lip does not
involve the ipsilateral underlying bony tooth-bearing
alveolus (Fig. 33-20).
Associated sonographic signs of a cleft palate include
an abnormally high position of the fetal tongue, hypertelorism, deviation of the vomer (a triangular bone
in the nasal septum forming the posterior and inferior
portion of the septum), and micrognathia.
describe the type of cleft, two embryonic structures are
considered: (1) the primary palate, formed by the prolabium, premaxilla, and columella, which includes the
lip, nares, and alveolus, and (2) the secondary palate,
59,70,71
To
Chapter 33 ■ The Fetal Face and Neck 1183
which begins at the incisive foramen and is formed
by a horizontal portion of the maxilla, the horizontal
portion of the palatine bones, and the soft palate.
Cleft palate may interfere with fetal swallowing and
result in polyhydramnios. Infants with cleft palate have
difficulty with feeding, are at increased risk of otitis
media, and may have difficulty with hearing and speech.
53
ASSOCIATED SIGNS OF CLEFT PALATE
WITH CLEFT LIP
Axial/Coronal Views
Lips: cleft
Nares: flattened or deformed
Vomer: deviated away from side of cleft; often
midline if bilateral cleft lip/palate
Maxilla: interrupted alveolus, wide gap
Orbits: hypertelorism
Sagittal Views
Profile: midface retrusion
Tongue: high position in oropharynx
Unilateral Cleft Lip/Palate
Unilateral clefts occur more often on the left side. In
a unilateral cleft lip and palate, there is often an
offset between the two sides of the cleft, which are described
as the “greater segment” on the side opposite the cleft,
and the “lesser segment” on the side of the cleft
(Fig. 33-21).
Bilateral Cleft Lip/Palate
Only about 10% of facial clefts are bilateral. In bilateral
cleft lip/palate, the midsagittal view will often show an
abnormal premaxillary protrusion of soft tissue anterior
to and above the normal position of the upper lip (Fig.
33-22). Bilateral cleft lip/palate may be symmetrical or
asymmetrical.
Median Cleft Lip/Palate
Median cleft lip is a classic finding in alobar holoprosencephaly. In these cases, head size is small for
A
C
FIGURE 33-19. Patterns of clefting of lip and palate. A, Isolated complete cleft lip/palate. This involves the lip and nose
and the primary palate. B, Bilateral cleft lip and palate. The medial part of the lip and alveolar ridge, the premaxilla, which usually protrudes anteriorly, can be recognized as a mass below the nose. C and D, Bilateral cleft lip and palate. The lip clefting extends to involve
one or both sides of the secondary hard palate in continuity. (Modified from Moore KL: Essentials of human embryology. Toronto, 1988,
BC Decker.)
B
D
1184 PART IV ■ Obstetric Sonography
Isolated Cleft of Secondary Palate
15
10
12
14
1
11
2
1
2
3
6
4
5
Soft tissue clefts of the face
30
14
15
12
2
1
3
11 10
9
3
6
5
7
Isolated clefts of the secondary palate are embryologically
9
8
distinct from cleft lip/palate and are less common, occurring in approximately 1 in 2500 live births.
52
This abnormality is infrequently identified on prenatal sonography
because of shadowing from overlying bony structures.
7
7
Sonographic diagnosis is based on secondary signs, such
as abnormal oropharyngeal fluid flow with color Doppler
imaging
59
and high position of the tongue.
62,64,75
Cleft
soft palate without cleft lip is more strongly associated
with syndromes and chromosomal anomalies than cleft
palate in concert with cleft lip.
64
Syndromes associated with clefts of the secondary
palate (without cleft lip) include Goldenhar syndrome,
Pierre-Robin sequence, Treacher Collins syndrome,
Stickler syndrome, and velocardiofacial syndrome.
Three-dimensional sonography is often helpful in assessing the secondary palate, given a favorable fetal position,
gestational age, and adequate amniotic fluid.
10-12,76-79
Sagittal fetal MRI is helpful in delineating the normal
8
7
7
8
soft tissues of the palate and in accurately characterizing
palatal clefting, even when isolated to the posterior secondary (soft) palate.
70,71,80
301
042
Bony clefts of the face
FIGURE 33-20. Classification of Tessier clefts. These
clefts are classified by the relationship of the cleft to the mouth,
nose, and eye sockets and are numbered from 1 to 14 with the
midline designated as 0. Knowledge of these types of clefts is
important for prenatal imaging, so that when unusual clefts are
seen, they can be recognized as part of this spectrum. (Modified
from Tessier P. Anatomical classification: facial, cranio-facial and
latero-facial clefts. J Maxillofac Surg 1976;4:69-92.)
menstrual dates and there is hypotelorism.72 However,
median cleft lip and palate can also be seen without
holoprosencephaly. In these cases, head size and ocular
diameters are normal.
72
Unusual Facial (Tessier) Clefts
Asymmetrical clefts in unusual locations may be the result
of amniotic band syndrome or may fall into the Tessier
cleft category (see Fig. 33-20). Tessier clefts are rare,
occurring in between 1 and 5 per 100,000 live births.
73
These clefts are classified by the relationship of the cleft
to the mouth, nose, and eye sockets and are numbered
from 1 to 14, with the midline designated as 0. Tessier
clefts can involve either the soft tissues (e.g., hairline,
eyebrows, eyelids, nostrils, lips, ears) or the skeleton.
74
LOWER FACE ABNORMALITIES
Macroglossia and Oral Masses
Macroglossia, an abnormally enlarged tongue, has a
variety of etiologies and can, at times, be identified on
fetal sonography, visualized as the tongue protruding
outside the oral cavity, typically on sagittal or axial
views (Fig. 33-23). Etiologies of macroglossia include
Beckwith-Wiedemann syndrome, Trisomy 21, and vascular malformations such as lymphatic malformation
or hemangioma.
evaluation for the associated findings of Beckwith-
Wiedemann syndrome and for markers of trisomy 21
should follow.
Beckwith-Wiedemann syndrome
Trisomy 21
Congenital hypothyroidism
Lymphangioma
Hemangioma
Inborn error of metabolism
Isolated autosomal dominant trait
Lingual thyroid
Neurofibroma
Epignathus
81
If macroglossia is identified, a careful
CONDITIONS ASSOCIATED
WITH MACROGLOSSIA
A
B
C
D
FE
FIGURE 33-21. Unilateral cleft lip and palate. A, Coronal 3-D sonogram of the fetal lip and nose shows a normal right
nostril and lip, cleft left lip (arrow), and a downward-sloping left nostril at 29 weeks’ gestation. B, Coronal MR image shows complete
left cleft lip, with deformation of left nostril (arrow). C, Axial MR image shows complete cleft left alveolus and lip (arrowheads indicate
lateral margins of bony tooth-bearing alveolus), with greater segment on the right and lesser segment on the left. D, Axial MR image
shows deviation of the tip of the bony nasal septum (vomer) away from the side of the cleft (arrow). E, Coronal MR image shows an
intact right horizontal palatal shelf and absence of the left palatal shelf above the tongue (T). Note how a small amount of amniotic fluid
in the oral cavity is helpful in making this determination. F, Sagittal MR image shows an abnormally high position of the tongue, in
keeping with a complete left cleft lip and palate.
1186 PART IV ■ Obstetric Sonography
A
C
B
D
FE
FIGURE 33-22. Bilateral complete cleft lip and palate. A, Axial sonogram of 18-week fetus with bilateral complete cleft
lip/palate shows bilateral clefts in the tooth-bearing alveolus of the maxilla, with two tooth buds (T) displaced anteriorly in the intermaxillary segment. B, Sagittal sonogram shows protrusion of the intermaxillary segment of the maxilla (arrow). C and D, Coronal and sagittal
MR images show bilateral cleft lip and the anteriorly displaced intermaxillary segment of the maxilla (arrow). E, In a different fetus at 22
weeks with Pfeiffer syndrome, axial MR shows bilateral cleft palate with displaced intermaxillary segment of the maxilla (arrow) (see also
Fig. 33-12). F, Postnatal 3-D CT reconstruction shows coronal craniosynostosis and the marked anterior position of the intermaxillary
segment (arrow).
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