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a n d Tre a t m e n t o f
Craniomaxillofacial
Anomalies
Bernard J. Costello, DMD, MD, FACSa,b,*,
Sean P. Edwards, DDS, MD, FRCD(C)c
KEYWORDS
Cleft Micrognathia Prenatal diagnosis
Fetal facial anomalies
a
Craniofacial and Cleft Surgery, Department of Oral and Maxillofacial Surgery, University of Pittsburgh School
of Dental Medicine, 3471 Fifth Avenue, Suite 1112, Pittsburgh, PA 15213, USA
b
Pediatric Oral and Maxillofacial Surgery, Childrens Hospital of Pittsburgh, Pittsburgh, PA, USA
c
Pediatric Oral and Maxillofacial Surgery, Division of Oral and Maxillofacial Surgery, Department of Surgery,
University of Michigan Medical Center, MI, USA
* Corresponding author. Craniofacial and Cleft Surgery, Department of Oral and Maxillofacial Surgery,
University of Pittsburgh School of Dental Medicine, 3471 Fifth Avenue, Suite 1112, Pittsburgh, PA 15213.
E-mail address: Bjc1@pitt.edu
oralmaxsurgery.theclinics.com
The authors have encountered several abnormalities that benefit from the involvement of a specialist
trained in craniomaxillofacial deformity.1 Because
this is a relatively new field, the total number of referrals to the center increased dramatically over a 6year period as the community became more aware
of the resources of the team (Fig. 1).
The total number of patients with prenatal diagnoses determined by the University of Pittsburgh
Fetal Diagnosis Treatment Team was 1782 for a 6year period. Of these anomalies, 304 were anomalies that had craniomaxillofacial implications. Clefts
were 4% of the total anomalies seen over the 6-year
period. Masses accounted for 3%, and other
craniofacial anomalies accounted for 11%. Some
of the other craniofacial anomalies included micrognathia, midfacial hypoplasia, nasal abnormalities,
and facial asymmetry. The most common craniomaxillofacial abnormalities were cleft lip and palate,
cervical or oral masses, micrognathia, and various
craniofacial anomalies with facial dysmorphology,
typically seen on ultrasonography.2 The number of
patients with particular diagnoses increased in
certain categories (Fig. 2). This was probably based
on the increased experience of ultrasonographers
and the team. Increasing referrals over 6 years probably had an effect on the types of anomalies sent to
the team for evaluation.
The importance of interdisciplinary care cannot
be overemphasized. The antenatal diagnosis of
a malformation, lesion, or syndrome carries with
it a great deal of social, ethical, and medical
management issues, none of which are easily
separated from the other. In the end, several
450
Number of
400
Abnormalities
350
300
250
200
150
100
50
0
2002
2003
2004
2005
2006
2007
Prenatal Care
Prenatal care is a complex process of screening,
diagnostic tests, physical examinations, and
120
100
80
Trisomy
60
Microcephaly
40
Encephalocele
20
Osteogenesis Imperfecta
Total
Fig. 2. Type of craniomaxillofacial deformities that patients who were treated at the University of Pittsburgh fetal
diagnosis treatment team from 2002 to 2007.
Ultrasonography
Ultrasonography is a noninvasive, negligible-risk
intervention that has become a standard component of prenatal care in much of the developed
world.(Figs. 3 and 4) First introduced to obstetric
care in the 1950s, the technology has gone
through several advances that have allowed it to
assume the prominent role it plays today. Grayscale imaging and real-time sonography became
available in the 1970s permitting differentiation of
tissue planes and useful image capture of the
constantly moving fetus (Fig. 5). Color and
Doppler examinations were added in the 1980s
and most recently, ultrahigh resolution with
3-dimensional (3D) real-time rendering has
emerged.1115
Three-dimensional imaging is essentially the
2-dimensional images acquired as a sweep or
volume (see Fig. 5B). The acquired data can then
Fig. 3. (A) Two-dimensional ultrasonography in axial view of the maxilla showing the greater and lesser segments
of a unilateral cleft lip and palate. Usually only the anterior palate is able to be visualized using this technique. (B)
Three-dimensional ultrasonography of a child with a left-sided unilateral cleft lip and palate.
Fetal MRI
Fetal MRI is becoming an increasingly popular
modality for the more complete evaluation of fetal
anomalies already noted on ultrasonography (see
Fig. 5C). This popularity has arisen because of
its safety and improvements in MRI technology.
First applied to examine the developing fetus in
1983, the technique was slow and required sedation to slow the movement of the fetus to diminish
the resultant artifact.9 Currently, single-shot fast
spin-echo T2-weighted images are the workhorse
of fetal MRI. This technique allows acquisition of
single slices in less than one second, minimizing
the effect of fetal motion. Contrast is avoided
because gadolinium, categorized as a pregnancy
class C drug, is known to cross the placenta and
may be absorbed by the fetus.
Fast fetal MRI does not supplant ultrasonography
as a screening tool, and in fact, an ultrasonography
is necessary. The objectives of fetal MRI, outlined
by Sandrasegaran and colleagues10 include
1. Confirming equivocal ultrasonography findings
so that a confident decision for pregnancy
management may be considered
2. Detecting other anomalies that may change
fetal prognosis or maternal management
3. Helping in planning fetal surgery when
necessary
4. Helping to plan the delivery, including the site of
delivery, that is, tertiary versus community
hospital, mode of delivery, level of neonatal
Fig. 4. (A) Two-dimensional ultrasonography of a bilateral cleft lip and palate (B) The child from Fig. 4A who also
has semi-lobar holoprosencephaly (C) Postoperative result of the child from Fig. 4B.
10
Fig. 5. (A) Two-dimensional ultrasonography of a neck mass consistent with a fetal goiter (B) Three-dimensional
ultrasonography of a neck mass (fetal goiter from Fig. 5A) (C) Fetal MRI study of the fetus from Fig. 5A, B with
a fetal goiter.
EXIT
The primary purpose of the EXIT procedure is to
maintain uteroplacental blood flow to the newly
born child when it would otherwise be compromised by structural or neoplastic lesions of the
face, neck, and thorax.35 Maintenance of this
supply of oxygenated blood permits an airway
to be secured in a safe orderly fashion, avoiding
emergency intubations or more serious
outcome. When successfully applied, normal
blood gases can be maintained for close to
one hour with the technique. There are several
keys to the successful application of the technique, beginning with the recognition of a threatening lesion. Equally important is the assembly
of the EXIT team and rehearsal of the process.
Also important from a physiologic perspective,
CRANIOMAXILLOFACIAL ANOMALIES
Cleft Lip and Palate
Cleft lip and palate is the most common, major
craniofacial anomaly in the United States. It should
come as no surprise that it is the most commonly
diagnosed fetal craniofacial abnormality, usually
diagnosed quite easily after 16 weeks on routine
screening ultrasonography. Additional imaging
later in the pregnancy may be indicated to reassess fetal growth and check for other anomalies.
Despite improvements in imaging technology,
false-positive results for clefting have been reported using ultrasonography when the umbilical
cord is overlying the lip of the fetus.19,20
The antenatal diagnosis of a cleft lip gives
parents the chance to gather information
regarding the condition (see Figs. 3 and 4).
Parents have the opportunity to meet with a cleft
team that could help them prepare for the birth
of their child and any treatment they may need.
Doing so in the prenatal period affords the surgeon
a more receptive audience, as opposed to the
new, overwhelmed parents faced with an unanticipated cleft deformity. Such advance opportunities
permit the clinicians to dispel any misconceptions
11
12
Fig. 7. (A) A granular cell tumor seen on ultrasonography in the prenatal period. The mass does not obstruct or
compromise the airway in any way. (B) Lateral view.
MICROGNATHIA
Micrognathia, whether as an isolated condition or
as part of a defined syndrome, can present with
significant airway and feeding difficulties, and
this warrants special discussion. It is becoming
much more common for ultrasonographers to
diagnose a significantly hypoplastic mandible
during routine screening examinations, and
measurements of mandibular length can be
compared with standards and norms for gestational age (see Fig. 6). Visualizing the mandible is
somewhat technique-sensitive and requires
a skilled ultrasonographer with adequate experience to visualize the mandible in the true sagittal
plane.14 Incomplete and parasagittal views may
result in a false-positive result for hypoplasia of
the mandible even when using 3D sweeping techniques. The diagnosis of a hypoplastic mandible
should alert clinicians to consider other anomalies
that may be associated with a syndromic diagnosis (eg, Nager, Cornelia de Lange, or Sticker
syndromes).17 MRI adds little to the diagnostic
capabilities of ultrasonography for this anomaly.
The small mandible can cause retroplacement
of the tongue and floor of the mouth resulting in
airway obstruction that may require immediate
intervention. Management of airway obstruction
associated with micrognathia is generally tiered
based on severity. After birth, mild cases may be
managed with positional therapy and prone
feedings. More severe cases may benefit from
temporary nasal stenting, tongue-lip adhesion,
distraction osteogenesis, or tracheostomy.
If a severely hypoplastic mandible is noted
prenatally, then consideration should be given to
an EXIT procedure. If the airway is obstructed after
birth, then airway support techniques need to be
considered. Maternal circulation can be sustained
in the early moments after birth to assess whether
intubation is possible or if tracheostomy is
required. The more long-term airway management
can then be considered. Mild cases may be
managed with positional therapy, temporary nasal
airway placement, or prone feeding as needed.
Other long-term management techniques for
more complicated airway obstruction may include
long-term tracheostomy, early distraction osteogenesis, or other techniques, after a thorough
evaluation has been performed. Early experience
at the authors institution has shown that distraction osteogenesis in the truly syndromic population is not as successful when compared with the
nonsyndromic population and that many patients
have multilevel airway compromise (ie, tracheomalacia, subglottic stenosis, epiglottic collapse,
13
14
SUMMARY
The oral and maxillofacial surgeon is an important
part of a comprehensive interdisciplinary fetal
diagnosis and treatment team, providing expertise
for patients with various craniomaxillofacial anomalies. A detailed diagnosis using appropriate
imaging and directed studies is helpful in planning
the delivery and care of the child. Several other
diagnoses are possible with prenatal imaging,
and other diagnostic tools may be used beyond
what is discussed in this article. The capabilities
are expanding quickly as is the technology used
for diagnosis. The new window into the state of
the fetus as a patient offers unique opportunities
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