THE FETAL FACE

&
NECK
-DR.SUVEC.A.S.A
 Sonographic evaluation of the fetal face and neck
has become a routine part of the second-
trimester fetal anatomic survey.

 Abnormalities of the fetal face are particularly

important because they may be markers for
syndromes and chromosomal anomalies
EMBRYOLOGY AND DEVELOPMENT

FACE

 Fetal face development begins at approximately 4

weeks’ gestation and rapidly progresses, with the
completion of major events by 8 weeks’ gestation.

 In this complex process, ectoderm, mesoderm,

endoderm, and neural crest cells all interact to
develop the classic human facial features.
 Embryology of the face. Stages of development of the fetal face.
Note the initial wide separation of the eyes, high wide separation
of the nostrils (nasal placodes), and low position of the ears.
Ectoderm surrounds the stomodeum (primitive
mouth)
Five main tissue buds (called prominences) form the
fetal face

 The frontonasal prominence forms the forehead

and dorsum apex of the nose.
 The lateral nasal prominences form the nasal ala.
 The medial nasal prominences form the nasal
septum.
 Maxillary prominences form the upper cheeks and
most of the upper lip.
 Mandibular prominences form the lower cheeks,
lower lip, and chin.
The maxillary and mandibular processes are derived
from the first branchial arch. The remaining
branchial arches go on to form the oropharynx
 During the 4th week of gestation, the frontal prominence
forms at the cephalic end of the embryo.
 The 5th week brings development of nasal pits in the
nasal placodes and differentiation of medial and lateral
nasal prominences.
 During the 6th week, six auricular hillocks (mes-
enchymal swellings) form and will become the pinna of
the ears.
 Medial and lateral nasal prominences fuse, and the
maxillary prominences begin to form the upper jaw. The
nasal septum forms as the medial nasal prominences
join in the midline. The edges of the optic fissures fuse,
and the hyaloid vessels are present in the center of the
optic stalk.
 By the 7th week, the tip of the nose is visible in
profile, and the pinna of the ears is taking shape.
The central axis of the nose and philtrum are
formed as fusion of the medial nasal prominences
is completed. Eyelids become prominent.

 By the end of the 8th week, the developing eye is

up to 2 mm in diameter
 NECK
 The laryngotracheal groove forms during the 4th week
of gestation along the floor of the primitive mouth. After
evagination of this groove, the laryngotracheal
diverticulum forms. The distal end forms the lung bud.
The endoderm of this diverticulum forms the epithelium
of the larynx and trachea. The endothelium of the
larynx proliferates and temporarily occludes its lumen.

 Recanalization occurs by the tenth gestational week,

with formation of the laryngeal ventricle, vocal folds,
and vestibular folds. The 4th and 6th pharyngeal arches
form the surrounding cartilage and muscles.
 At 4 to 6 weeks’ gestation, right and left jugular
lymph sacs develop as diverticula of the
subclavian veins.

 Lymphatic capillaries permeate the body and

drain into these sacs. Abnormal connections
between the lymphatic sacs and venous system
are thought to contribute to lymphatic
malformation and thickened nuchal translucency
in the first trimester, as well as thickened nuchal
fold in the second trimester.
SONOGRAPHY OF THE NORMAL
FETAL FACE
 Sonographic evaluation of the fetal face is part of
the routine anatomic survey in midpregnancy,
but little is actually required
 According to the American Institute of
Ultrasound in Medicine 2007 practice guidelines,
only visualization of the fetal upper lip is
mandatory during an anatomic survey.
 Profile and 3-D views are helpful, especially when a
true coronal view cannot be obtained because of fetal
position.

 Sagittal 3-D volumes of the fetal face can often be

obtained in these situations, and the image can then be
rotated to show the upper lip and palate clearly. Coronal
and axial views of the fetal nose and lips are obligatory
in screening for fetal cleft lip .

 The sagittal facial profile view is acquired whenever

possible and should demonstrate the presence and
normal configuration of the nasal bone, lips, chin, and
forehead.
CORONAL AND AXIAL VIEWS OF THE FETAL NOSE AND
LIPS ARE OBLIGATORY IN SCREENING FOR FETAL
CLEFT LIP (FIG. 33-2, A AND B).
A, NOSE AND LIPS. CORONAL SONOGRAM AT 36 WEEKS’
GESTATION.
 B.PROFILE OF THE FACE OF A 17-WEEK FETUS
SHOWS A NORMAL NASAL BONE (LONG
ARROW), MAXILLA (SHORT ARROW), AND
MANDIBLE (ARROWHEAD).
AXIAL VIEWS OF THE ORBITS CAN BE OBTAINED TO VERIFY THAT
BOTH GLOBES ARE PRESENT, OF NORMAL SIZE, AND AT A
NORMAL DISTANCE APART

C, NORMAL ORBITS IN AXIAL VIEW (CURSORS: +, OUTER ORBITAL

DISTANCE; X, INNER ORBITAL DISTANCE)
 AXIAL IMAGES OF THE MAXILLA AND ALVEOLAR RIDGE CAN BE
OBTAINED TO DETERMINE IF A CLEFT PRIMARY PALATE IS PRESENT

D, NORMAL MAXILLA. AXIAL VIEW OF ANTERIOR ASPECT OF THE

MAXILLA IN A 17-WEEK FETUS SHOWS TOOTH BUDS IN THE ALVEOLUS
(ARROWS) AND TONGUE
E, NORMAL MANDIBLE. AXIAL VIEW SHOWS
MULTIPLE TOOTH BUDS
 The palate separates the nasal cavity from the
oral cavity.

 The secondary palate is difficult to visualize on

2-D sonography but may be evaluated with
special 3-D sonographic views and is often readily
visible on midline sagittal and coronal fetal
magnetic resonance imaging.
H, SAGITTAL T2-WEIGHTED MR IMAGE OF A NORMAL FETAL
FACE AT 27 WEEKS’ GESTATION SHOWS NORMAL MIDLINE
STRUCTURES, SUCH AS
CORPUS CALLOSUM (THICK ARROW), CEREBELLAR VERMIS
(V), AND SECONDARY PALATE (THIN ARROW).
F, 3-D SONOGRAM OF A NORMAL 23-WEEK FETUS. G,
3-D SONOGRAM OF A NORMAL 30-WEEK FETUS IN F
 Images of the fetal neck are obtained in sagittal, axial, and
coronal planes to evaluate the cervical spine, airway, and to
assess for masses .

 The neck should also be evaluated for abnormal

positioning, such as hyperextension, which can be present
with anterior neck masses such as an enlarged thyroid or
cervical teratoma.

 Thickening of the nuchal fold should be evaluated at the

second-trimester survey and is measured in the
suboccipital bregmatic plane, where notable landmarks
include the cavum septum pellucidum, cerebral peduncles,
cerebellar hemispheres, and cisterna magna
ABNORMALITIES OF THE HEAD
 Abnormal Size
The fetal head is typically oval in configuration, and in this
case, measurements of biparietal diameter (BPD) and head
circumference will give similar estimates of gestational age.

o If sonographic head measurements are 3 SD below the

mean, microcephaly is diagnosed

o If the measurements are greater than 2 SD above the

mean, macrocephaly is suggested.

 Abnormalities of head size are important. Microcephaly

may be associated with abnormalities of brain development
and often leads to poor neurologic outcome.

 Macrocephaly may have a benign cause, such as a family

history of a large head, or pathologic causes such as
underlying brain maldevelopment or injury or rarely, a
space-occupying lesion
CRANIOSYNOSTOSIS
 Craniosynostosis describes a heterogeneous
group of disorders in which there is premature
fusion of one or several of the cranial sutures.
 It occurs in about 1 in 2500 births.

 About 85% of cases are isolated and about 15%

syndromic.
 Craniosynostosis is associated with multiple
syndromes, including Apert, Crouzon, Pfeiffer,
Antley-Bixler, Beare-Stevenson, Fetter, and
Carpenter, as well as thanatophoric dysplasia
scaphocephaly Brachycephaly
ABNORMAL SHAPE
Abnormal head shape takes many forms.

 An abnormally long and narrow (oblong) cranium is

described as Dolichocephaly and is more frequently
seen in fetuses in breech position and in the setting of
oligohydramnios.

 An abnormally round head is termed

brachycephaly, which may be caused by premature
fusion of the coronal sutures.

 A lemon-shaped skull, with indentation of the

frontal bones, is often seen in association with open
neural tube defects and the Chiari II malformation of
the hindbrain, but it may also be seen in normal
fetuses.
 A strawberry-shaped skull, presenting as
flattening of the occiput and narrowing of the
bifrontal portion of the cranium, may be seen in
associa- tion with trisomy 18.

 A cloverleaf-shaped skull is seen with some

dwarfs, especially thanatophoric dysplasia, and
in some fetuses with craniosynostosis.

 The abnormal head shapes resulting from

craniosynostosis can lead to facial abnormalities,
including hypertelorism, hypotelorism,
exorbitism, and midface hypoplasia.
 Prenatal diagnosis can be difficult; fetuses can
appear normal in midtrimester but show changes
in late pregnancy, when normal physiologic
molding can be a confounder.
 In at-risk cases, head shape changes have been
seen as early as 12 weeks. The fused sutures can
be detected as absence of the sonolucent space
normally seen between skull bones.
 The loss of hypoechoic suture appearance lags
shape changes by 4 to 16 weeks.
 A, LEMON-SHAPED SKULL IN ASSOCIATION WITH NEURAL TUBE
DEFECT. AXIAL SONOGRAMS SHOWS CONCAVE DEFORMITY OF
THE FRONTAL BONE (STRAIGHT ARROWS) AS WELL AS
VENTRICULOMEGALY (CURVED ARROWS) AT 22 WEEKS’
GESTATION.
B, BRACHYCEPHALY AND STRAWBERRY SHAPE (POINTING
ANTERIORLY, FLAT OCCIPUT) AT 20 WEEKS IN A FETUS WITH
TRISOMY 18. CEPHALIC INDEX IS 96% (NORMAL, 80%); OCC,
OCCIPUT; ANT, FOREHEAD
C, CRANIOSYNOSTOSIS WITH CLOVERLEAF SKULL. NOTE THE
TRILOBITE SHAPE SEEN WITH CRANIOSYNOSTOSIS OF THE
CORONAL (ARROWHEADS) AND OTHER SUTURES EXCEPT THE
SQUAMOSAL IN THIS FETUS WITH THANATOPHORIC DYSPLASIA;
A, ANTERIOR; P, POSTERIOR.
D, METOPIC CRANIOSYNOSTOSIS. AXIAL SONOGRAM OF A 27-
WEEK FETUS WITH A POINTED ANTERIOR SKULL SECONDARY TO
METOPIC SYNOSTOSIS.
E, FRONTAL BOSSING IN A FETUS WITH HYPOCHONDROPLASIA.
ALSO NOTE A “SADDLE NOSE,” WITH THE NASAL BONE MEETING
THE FRONTAL BONE AT AN ABNORMAL 90 DEGREES. THERE IS A
SMALL THORAX AND A PROTUBERANT ABDOMEN.
CRANIOSYNOSTOSES WITH CLOVERLEAF SKULL DEFORMITY.

A, CORONAL SONOGRAM SHOWS CLOVERLEAF SKULL

DEFORMITY AT 37 WEEKS’ GESTATION SECONDARY TO COMBINED
CORONAL, LAMBDOIDAL, AND SQUAMOUS (SQUAMOSAL) SUTURE
SYNOSTOSIS
 B AND C, SAGITTAL AND AXIAL MR IMAGES SHOW
TURRIBRACHYCEPHALY (MULTIPLE SUTURE CLOSURES
ALLOW ONLY GROWTH SUPERIORLY; “TOWER HEAD”).
 Additional problems can arise from the cranial
deformity, including intracranial hypertension,
obstructive apnea, proptosis, visual loss, dental
malocclusion, and intellectual impairment.
 Learning disorders have been observed in 47% of
school-age children
 Fetuses prenatally suspected to have
craniosynostosis should undergo detailed
neurologic and anatomic sonography. MRI may
be helpful. Postnatally, computed tomography
(CT) surface rendering helps confirm the
diagnosis and is needed for surgical treatment
planning.
WORMIAN BONES
 Wormian bones are ossicles located in the sutures or
fontanelles and may be associated with multiple
conditions, such as pyknodysostosis, osteogenesis
imperfecta, cleidocranial dysplasia, hypothyroidism,
and trisomy 21.

 Three-dimensional views are particularly useful in

the assessment of wormian bones
AN EXTRA OSSIFICATION CENTER (ARROW) IS
IDENTIFIED BETWEEN THE FRONTAL BONES OF A
FETUS WITH TRISOMY 18.
FOREHEAD ABNORMALITIES
 The forehead is best evaluated in the sagittal
profile view, where the angle between the frontal
and nasal bone can be assessed. Frontal bossing
is abnormal prominence of the frontal bones and
is a rare finding on fetal sonography.

 However, it has been reported in a variety of

bony dysplasias and syndromes, including
achondroplasia and thanatophoric dysplasia, and
in syndromes with associated craniosynostosis.
 Wolf-Hirschhorn (4p−) syndrome has an
abnormally sloped forehead, the “Greek warrior
facies” . The forehead can also be sloped in the
settings of microcephaly and encephalocele, in
which the forebrain is underdeveloped
ORBIT ABNORMALITIES
 Sonographic evaluation of the fetal orbits is best
obtained in axial or coronal views, where one can
confirm the presence of both orbits, evaluating
their sizes, shapes, and the distance between
them.
 The sagittal view may help to evaluate abnormal
anterior displacement of the globes (proptosis or
exorbitism).
 The orbits should be symmetrical in size and the
outer and inner interorbital distances within a
normal range. Detailed nomograms are available
for reference
HYPOTELORISM
 Hypotelorism is defined as an abnormally small
distance between the orbits and is often associated
with other anomalies.

 In particular, alobar holoprosencephaly can be

associated with cyclopia (single midline eye with
failed development of nose with or without a
proboscis), ethmocephaly (hypotelorism with failed
development of nose and a proboscis), or cebocephaly
(hypotelorism and poorly developed nose with a single
nostril).
HYPERTELORISM
 Hypertelorism is defined as widely spaced eyes. Given
the embryologic development of the eyes and their
migration from a lateral position to midline,
hypertelorism may result from abnormalities that
interfere with this normal migration
MICROPHTHALMIA AND ANOPHTHALMIA
 Abnormally small (microphthalmia) or absent
(anophthalmia) orbits are rarely diagnosed on fetal
sonography, but, when present, are frequently
associated with chromosomal abnormalities or
syndromes.
 Fetal karyotype analysis should be considered and a
careful search for additional fetal abnormalities
undertaken.
DACRYOCYSTOCELE
 Dacryocystoceles result from obstruction of the
nasolacrimal ducts . These present as cystic masses
that may contain low-level internal echoes, located
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.
 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 applica- tion of warm compresses,
and others requiring probing or surgical
intervention after birth
 A, Axial sonogram shows fluid collections anteromedial to each orbit,
consistent with bilateral dacryocystoceles (arrows). B and C, Axial and
sagittal MR images of a different 35-week fetus with a right
dacryocystocele
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
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
 Microtia, or small ears, is a rare anomaly with an
incidence of approximately 1:10,000 live births
and is often associated with syndromes and
aneuploidy.
 Otocephaly is a condition with union of the ears
on 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.
MIDFACE ABNORMALITIES
 The midface is the area between the upper lip
and forehead.
 HYPOPLASIA
Midface hypoplasia can arise from a variety of
causes, including syndromes such as Apert,
Crouzon, Treacher Collins, Wolf-Hirschhorn,
Pfeiffer , Turner, and trisomy 21. Midface
hypopla- sia may also result from facial clefts,
craniosynostosis, and 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
 Apert syndrome is a form
of acrocephalosyndactyly, a congenital
disorder characterized by malformations of the
skull, face, hands and feet. It is classified as a
branchial arch syndrome, affecting the
first branchial (or pharyngeal) arch, the
precursor of the maxilla and mandible
 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, SAGITTAL SONOGRAM, AND F, MR IMAGE,
SHOW AN ABNORMALLY SHAPED SKULL AND
MIDFACE HYPOPLASIA.
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.

 The absence of a nasal bone at second-trimester

sonography, or abnormally short nasal bone
measure- ments in combination with other
markers of aneuploidy, increases detection of
aneuploidy
CLEFT LIP AND PALATE
 Worldwide incidence of cleft lip, with or without
cleft palate, is approximately 1 in 700 live
births,with incidence in Caucasians in
approximately 1:1000 live births.

 The incidence of facial clefting is lower in the

African- American 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.
 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. Thus,
identification of a facial cleft should prompt a
detailed and complete evaluation of the fetus for
additional anomalies.
 Reported accuracy in the sonographic detection of
fetal cleft lip/palate ranges from 16% to 93%.
 Robinson et al.65 found that sonography
performed after 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.
 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 .

 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
 To 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, 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.

 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.
 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
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 ,
SAGITTAL MR IMAGE SHOWS AN ABNORMALLY HIGH
POSITION OF THE TONGUE, IN KEEPING WITH A
COMPLETE LEFT CLEFT LIP AND PALATE.
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 . Bilateral cleft
lip/palate may be symmetrical or asymmetrical.
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).
MEDIAN CLEFT LIP/PALATE
 Median cleft lip is a classic finding in alobar
holoprosencephaly. In these cases, head size is
small for menstrual dates and there is
hypotelorism.
 However, median cleft lip and palate can also be
seen without holoprosencephaly. In these cases,
head size and ocular diameters are normal.
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.
 Tessier clefts are rare, occurring in between 1
and 5 per 100,000 live births.
 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
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.
ISOLATED CLEFT OF SECONDARY PALATE
 Isolated clefts of the secondary palate are
embryologically distinct from cleft lip/palate and are
less common, occurring in approximately 1 in 2500
live births.

 This abnormality is infrequently identified on

prenatal sonography because of shadowing from
overlying bony structures. Sonographic diagnosis is
based on secondary signs, such as abnormal
oropharyngeal fluid flow with color Doppler imaging
and high position of the tongue.

 Cleft soft palate without cleft lip is more strongly

associated with syndromes and chromosomal
anomalies than cleft palate in concert with cleft lip
 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.

 3D sonography is often helpful in assessing the

secondary palate, given a favorable fetal position,
gestational age, and adequate amniotic fluid.

 Sagittal fetal MRI is helpful in delineating the

normal soft tissues of the palate and in
accurately characterizing palatal clefting, even
when isolated to the posterior secondary (soft)
palate.
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 .

 Etiologies of macroglossia include Beckwith-

Wiedemann syndrome, Trisomy 21, and vascular
malformations such as lymphatic malformation
or hemangioma.

 If macroglossia is identified, a careful evaluation

for the associated findings of
BeckwithWiedemann syndrome and for markers
of trisomy 21 should follow.
A, MACROGLOSSIA WITH BECKWITH-WIEDEMANN SYNDROME AT
33 WEEKS’ GESTATION. NOTE THE ENLARGED TONGUE (ARROW)
PROTRUDING FROM THE MOUTH (CURVED ARROWS, LIPS
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
E AND F, SAGITTAL AND CORONAL MR IMAGES SHOW
MACROGLOSSIA (T) AND THE LYMPHATIC MALFORMATION
(ARROWS) INFILTRATING THE DEEP FACIAL STRUCTURES
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

 Agnathia is total or partial absence of the lower

jaw and is often associated with
holoprosencephaly .
 Microstomia is a small mouth, often associated
with agnathia and otocephaly.
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 .
 Vascular 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.
NECK ABNORMALITIES
 Nuchal Translucency and Thickening

 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
anomalies, and cardiac structural abnormalities.
When associated with hydrops, fetal mortality is
very high.
 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 .
 In this setting, fetal MRI is often useful for
evaluation of the fetal airway and for delivery
planning.
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.
 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.
 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
preservation of the maternal-fetal circulation
through the placenta until the neonatal airway
can be secured.
THYROMEGALY AND GOITER

 Fetal goiter is rare (1 : 30,000-50,000 live births)

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.
 Fetal goiter presents as a midline homogeneous
solid mass in the anterior neck surrounding the
trachea .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.
 A AND B, 2-D AND 3-D IMAGES OF NECK HYPEREXTENSION IN
FETUS WITH GOITER AT 24 WEEKS’ GESTATION.
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.
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