AJR 2004; 183:229-235
© American Roentgen Ray Society
Prenatal Diagnosis of Cleft Lip and Cleft Palate Using MRI
A. Stroustrup Smith1,
J. A. Estroff2,3,
C. E. Barnewolt2,3,
J. B. Mulliken3,4 and
D. Levine5
1 Harvard Medical School and Harvard–MIT Division of Health Science and
Technology, HMS TMEC 213, 260 Longwood Ave., Boston, MA 02215.
2 Department of Radiology, Children's Hospital, 300 Longwood Ave., Boston, MA
02215.
3 Division of Plastic Surgery, Children's Hospital, Boston, MA 02215.
4 Advanced Fetal Care Center, Children's Hospital, Boston, MA 02215.
5 Department of Radiology, Beth Israel Deaconess Medical Center, 330 Brookline
Ave., Boston, MA 02215.
Received October 31, 2003;
accepted after revision January 4, 2004.
Address correspondence to D. Levine
(dlevine{at}bidmc.harvard.edu).
Supported by the Carl J. Shapiro Institute for Education and Research
Educational Innovation Fund and National Institutes of Health grant
NS37945.
C left lip with or without cleft palate (cleft lip and palate) is
the most common facial malformation, affecting approximately one in 700 live
births worldwide [1].
Structures anterior to the incisive foramen, including the lip and alveolar
ridge, constitute the primary palate. The secondary palate is made of palatal
structures posterior to the incisive foramen. A cleft of any element of the
primary palate, with or without cleft secondary palate, is considered cleft
lip and palate. It results from failure of one or both of the medial nasal
prominences to fuse and merge with the maxillary prominences during weeks
4–6 of gestation; the secondary palate fuses between weeks 8 and 12 of
gestation. Cleft secondary palate alone is etiologically different from cleft
lip and palate and occurs in only one in 2,500 live births
[1].
In the prenatal population, many fetuses having cleft lip and palate or
cleft secondary palate have chromosomal abnormalities or other anomalies
incompatible with survival [2].
Because many of these abnormal fetuses die in utero or are terminated, the
incidence of cleft lip and palate and cleft secondary palate in the prenatal
population is higher than in the postnatal population
[2].
The accuracy of sonography for prenatal diagnosis of cleft lip and palate
is highly variable and dependent on the experience of the sonographer and the
type of cleft. Reported rates of detection for cleft lip and palate range from
16% to 93% [3,
4]. Isolated cleft palate is
rarely identified prenatally
[3]. Furthermore, even when a
cleft lip is visualized sonographically, it is difficult to determine whether
the alveolus and secondary palate are also involved. This determination is
important because a child with cleft palate, as opposed to isolated cleft lip,
is at risk for chronic otitis media, hearing loss, abnormal speech, and
midfacial retrusion.
MRI is used increasingly for evaluation of fetal abnormalities that are
difficult to identify on sonography alone
[5]. Fetal MRI is less
dependent than sonography on optimal amniotic fluid volume, fetal position,
and maternal body habitus. Additionally, visualization of small structures on
MRI is not limited by bone shadowing.
Because MRI is sometimes requested for fetuses with anomalies known to be
associated with cleft palate, evaluating the lip and palate during prenatal
MRI studies is important. In this pictorial essay, we illustrate the normal
and abnormal MRI appearances of the fetal lip and palate and correlate these
appearances with the corresponding sonographic findings.
MRI
MRI was performed on a 1.5-T superconducting system (Signa, General
Electric Medical Systems, or Vision, Siemens) with a fouror eight-element
phased array surface coil. Images in the sagittal, axial, and coronal planes
of the fetus were acquired using half-Fourier single-shot rapid acquisition
with relaxation enhancement technique (TR/TE, single-shot/60; field of view
tailored to maternal body habitus and fetal gestational age, typically 26
x 26 cm; matrix, 192 x 256 or 256 x 512; echo-train length,
72; 1 signal acquired; section thickness, 3–4 mm).
Normal Appearance of Fetal Upper Lip and Palate
Techniques for adequate assessment of the upper lip, alveolus, and palate
are well described in the sonography literature
[6]. These studies underscore
the importance of evaluating the labial soft tissue overlying the maxilla; the
anterior six tooth buds (four of which arise from the premaxillary segment);
and the continuous, smooth, echogenic, horseshoe-shaped curve of the
tooth-bearing alveolar ridge
[6].
MR images of normal lip and palate are illustrated in Figure
1A,
1B,
1C. Coronal images are
particularly important for visualizing the nose and lips. The secondary palate
is best visualized when amniotic fluid fills the fetal mouth, outlining the
tongue and palate. Sagittal sections show the secondary palate as a smooth
midline arc of soft-tissue signal intensity, contiguous with the primary
palate.
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Fig. 1A. —Fetus with normal upper lip and palate at 29 weeks'
gestation. Coronal (A), axial (B), and sagittal (C) MR
images show soft tissues extend evenly across midline and tooth buds in
maxilla form smooth continuous arch. Secondary palate (arrow,
C) is visible as continuous arch of soft-tissue signal extending
posteriorly from primary palate.
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Fig. 1B. —Fetus with normal upper lip and palate at 29 weeks'
gestation. Coronal (A), axial (B), and sagittal (C) MR
images show soft tissues extend evenly across midline and tooth buds in
maxilla form smooth continuous arch. Secondary palate (arrow,
C) is visible as continuous arch of soft-tissue signal extending
posteriorly from primary palate.
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Fig. 1C. —Fetus with normal upper lip and palate at 29 weeks'
gestation. Coronal (A), axial (B), and sagittal (C) MR
images show soft tissues extend evenly across midline and tooth buds in
maxilla form smooth continuous arch. Secondary palate (arrow,
C) is visible as continuous arch of soft-tissue signal extending
posteriorly from primary palate.
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Fetal Cleft Lip and Palate
Cleft Lip and Alveolus Without Cleft Secondary Palate
Unilateral incomplete cleft lip can be subtle and undetectable until the
third trimester. However, this minor labial clefting is not usually associated
with other malformations and has an excellent prognosis (Fig.
2A,
2B,
2C,
2D). On MRI, sequential coronal
views show the fetal nose and lips. Axial views of the alveolus are helpful to
exclude involvement of the gum, which is variable in isolated cleft lip. At
times, distinguishing between an incomplete and complete cleft lip is
difficult because there can be a thin band of tissue spanning the cleft even
with a complete alveolar cleft
[7].
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Fig. 2A. —Unilateral incomplete cleft lip in fetus at 34 weeks'
gestation. Coronal sonograms (A and B) and MR images (C
and D) show labial cleft. Note defect involving superficial soft tissue
(arrows, A and C) but not deeper plane (B and
D). Subtle deviation of caudal portion of nasal septum toward cleft is
apparent, producing characteristic appearance of nasal cartilage leaning
toward cleft with unilateral cleft lip and palate.
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Fig. 2B. —Unilateral incomplete cleft lip in fetus at 34 weeks'
gestation. Coronal sonograms (A and B) and MR images (C
and D) show labial cleft. Note defect involving superficial soft tissue
(arrows, A and C) but not deeper plane (B and
D). Subtle deviation of caudal portion of nasal septum toward cleft is
apparent, producing characteristic appearance of nasal cartilage leaning
toward cleft with unilateral cleft lip and palate.
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Fig. 2C. —Unilateral incomplete cleft lip in fetus at 34 weeks'
gestation. Coronal sonograms (A and B) and MR images (C
and D) show labial cleft. Note defect involving superficial soft tissue
(arrows, A and C) but not deeper plane (B and
D). Subtle deviation of caudal portion of nasal septum toward cleft is
apparent, producing characteristic appearance of nasal cartilage leaning
toward cleft with unilateral cleft lip and palate.
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Fig. 2D. —Unilateral incomplete cleft lip in fetus at 34 weeks'
gestation. Coronal sonograms (A and B) and MR images (C
and D) show labial cleft. Note defect involving superficial soft tissue
(arrows, A and C) but not deeper plane (B and
D). Subtle deviation of caudal portion of nasal septum toward cleft is
apparent, producing characteristic appearance of nasal cartilage leaning
toward cleft with unilateral cleft lip and palate.
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Cleft Lip and Palate
Approximately 90% of fetuses with a complete cleft of the primary palate
will also have a complete cleft of the secondary palate. Conversely, 10% of
infants with complete unilateral or bilateral cleft lip and alveolus will have
an intact secondary palate. Furthermore, there can be an incomplete cleft lip
even in the presence of a complete cleft palate (Fig.
3A,
3B,
3C,
3D). Sonographic detection of
the secondary palate is difficult, although a palatal defect can be inferred
when the tongue is seen high in the oral cavity. In contrast to sonography,
MRI allows direct visualization of the soft palate.
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Fig. 3A. —Bilateral cleft lip and palate in fetus at 26 weeks'
gestation. Lip clefts (arrows, A and C) are shown on
sonogram (A) and on sagittal (B) and axial (C) MR images.
Although tentative antenatal diagnosis was complete cleft lip and palate, on
postnatal physical examination there were tiny bands of tissue at nasal sills,
making this bilateral incomplete cleft lip (in addition to bilateral cleft
palate). These bands prevented premaxillary proclination typically seen with
bilateral complete cleft lip and palate. These bands of tissue are difficult
to visualize prenatally because of their small size.
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Fig. 3B. —Bilateral cleft lip and palate in fetus at 26 weeks'
gestation. Lip clefts (arrows, A and C) are shown on
sonogram (A) and on sagittal (B) and axial (C) MR images.
Although tentative antenatal diagnosis was complete cleft lip and palate, on
postnatal physical examination there were tiny bands of tissue at nasal sills,
making this bilateral incomplete cleft lip (in addition to bilateral cleft
palate). These bands prevented premaxillary proclination typically seen with
bilateral complete cleft lip and palate. These bands of tissue are difficult
to visualize prenatally because of their small size.
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Fig. 3C. —Bilateral cleft lip and palate in fetus at 26 weeks'
gestation. Lip clefts (arrows, A and C) are shown on
sonogram (A) and on sagittal (B) and axial (C) MR images.
Although tentative antenatal diagnosis was complete cleft lip and palate, on
postnatal physical examination there were tiny bands of tissue at nasal sills,
making this bilateral incomplete cleft lip (in addition to bilateral cleft
palate). These bands prevented premaxillary proclination typically seen with
bilateral complete cleft lip and palate. These bands of tissue are difficult
to visualize prenatally because of their small size.
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Unilateral Cleft Lip and Palate
Unilateral cleft lip and palate is best visualized sonographically and on
MRI in the axial and coronal planes (Fig.
4A,
4B,
4C,
4D). Axial views show the
characteristic deviation of the nasal septum (i.e., the mid portion is bent to
the side of the defect and the anterocaudal portion is deviated to the
noncleft side). In addition, axial images show abnormal or missing tooth buds
in the medial alveolar ridge (Figs.
4B and
4C).
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Fig. 4B. —Unilateral complete cleft lip and palate on right side in
fetus at 28 weeks' gestation. Axial sonogram shows cleft alveolus. Note
interruption and offset of normally intact horseshoe-shaped alveolar ridge
(arrows). Tooth buds are absent in region of cleft.
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Fig. 4D. —Unilateral complete cleft lip and palate on right side in
fetus at 28 weeks' gestation. Coronal MR image shows direct communication
between oropharynx and nasopharynx caused by cleft secondary palate
(arrow).
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Bilateral Cleft Lip and Palate
In cases of complete bilateral cleft lip and palate, protrusion of the
premaxillary segment occurs and is best visualized on axial and midline
sagittal views (Fig. 5A,
5B,
5C). In such cases, the
premaxilla is typically missing tooth buds corresponding to the lateral
incisors. The nose is often flattened and the columella short. Bilateral
clefts extending into the secondary palate are directly visible on MRI (Fig.
6A,
6B,
6C).
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Fig. 5C. —Bilateral complete cleft lip in fetus at 18 weeks' gestation.
Protruding premaxillary segment (arrow) and incidental thickened
nuchal fold (arrowhead) are better seen on sagittal view.
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Fig. 6A. —Bilateral complete cleft lip and palate at 33 weeks'
gestation in fetus with midfacial hypoplasia. Sagittal midline sonogram shows
tongue in relatively high position and amniotic fluid directly communicating
with oropharynx and nasopharynx, suggesting cleft of soft palate.
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Median Facial Cleft
Median facial cleft results from failed fusion of the two medial nasal
prominences. This rare condition is often associated with chromosomal
anomalies and holoprosencephaly (Fig.
7A,
7B,
7C).
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Fig. 7C. —Midline cleft and facial hypoplasia with holoprosencephaly in
fetus at 19 weeks' gestation. Slightly oblique sagittal MR image shows tissue
of soft palate present on paramidline imaging (arrow).
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Isolated Cleft Palate
Cleft soft palate, in the absence of cleft lip, is far less common than
cleft lip and palate. Isolated cleft of the secondary palate is rarely
identified on prenatal sonography or MRI
[4,
8] (Figs.
8A,
8B,
8C and
9A,
9B,
9C,
9D). Communication of the oro-
and nasopharynx in the expected region of the soft palate and abnormally
elevated tongue position are clues to the presence of cleft secondary
palate.
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Fig. 8B. —Isolated cleft soft palate in fetus with Beckwith-Wiedemann
syndrome at 23 weeks' gestation. MR images show intact alveolar ridge and
upper lip. Soft palatal cleft was not recognized prenatally on either
sonography or MRI. In retrospect, soft palate is cleft (arrow,
C). Cleft palate is unusual finding in fetus with this disorder.
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Fig. 8C. —Isolated cleft soft palate in fetus with Beckwith-Wiedemann
syndrome at 23 weeks' gestation. MR images show intact alveolar ridge and
upper lip. Soft palatal cleft was not recognized prenatally on either
sonography or MRI. In retrospect, soft palate is cleft (arrow,
C). Cleft palate is unusual finding in fetus with this disorder.
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Fig. 9A. —Cleft soft palate in fetus with agenesis of the corpus
callosum at 33 weeks' gestation. Cleft soft palate was not detected
prenatally, although in retrospect it can be seen. Sequential sagittal MR
images show palatal shelf off midline (arrow, A) but cleft
soft palate centrally.
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Fig. 9B. —Cleft soft palate in fetus with agenesis of the corpus
callosum at 33 weeks' gestation. Cleft soft palate was not detected
prenatally, although in retrospect it can be seen. Sequential sagittal MR
images show palatal shelf off midline (arrow, A) but cleft
soft palate centrally.
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Fig. 9C. —Cleft soft palate in fetus with agenesis of the corpus
callosum at 33 weeks' gestation. Cleft soft palate was not detected
prenatally, although in retrospect it can be seen. Coronal MR image shows
communication between oropharynx and nasopharynx.
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Fig. 9D. —Cleft soft palate in fetus with agenesis of the corpus
callosum at 33 weeks' gestation. Cleft soft palate was not detected
prenatally, although in retrospect it can be seen. Postnatal axial T1-weighted
MR image shows similar findings to A–C. As seen on this
image, sagittal cut through oropharynx would show tissue laterally, but not at
midline.
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Conclusion
Fetal MRI allows detailed prenatal evaluation of the upper lip and palate.
Attention to the secondary palate is of particular importance because it is
rarely evaluated adequately on sonograms. Knowledge of the appearance of
isolated cleft secondary palate may enable prospective diagnosis of this
anomaly by MRI. Although the sensitivity and specificity of MRI for the
detection of cleft lip and palate and cleft secondary palate have yet to be
determined, it is possible that with a combination of the improved
visualization of many bone and soft-tissue facial structures made possible by
MRI and increased vigilance in analysis of fetal facial anatomy, we can
improve our accuracy and detection rate of facial clefts, thereby improving
our ability to thoroughly and accurately counsel patients.
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