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146
11 Isolated Cleft ofSecondary Palate
a
P
b
Fig. 11.14 Pitfalls in 3D imaging of palate (a) The green
line of the render box is placed on the intraoral surface of
visualized maxillary line to illustrate the palate (P). (b)
V
The green line of the render box is placed on the side of
the nasal cavity. (Note that the vomer (v) is seen as the
midline echo leading to the false-positive diagnosis)
11.5 Pitfalls inMid Trimester
147
a
HP
SP
c
HP
SP
b
HP
SP
d
HP
SP
Fig. 11.15 Visualization of hard and soft palate from 13weeks to 22weeks of gestation (a) 13weeks, (b) 14weeks,
(c) 19weeks, (d) 22weeks. (Arrow points to junction of hard palate (HP) and soft palate (SP))
bones further hinder visualization of the hard and
soft palate.
The palatal arch becomes more marked after
25weeks of gestation, and the entire hard and
soft palate cannot be visualized in one sagittal
section. As the soft palate lies at an angulation to
the hard palate, sometimes echo dropouts in the
hard palate can be seen while imaging the soft
palate. (Fig.11.23a).
These dropouts should not be mistaken for a
cleft of the secondary palate. The hard palate can
be visualized in the same case as shown in
Fig.11.23b; note that the soft palate is not imaged
in this section.
Figure 11.23c is an illustration of the transverse axial view at the base of the skull at the
level of the oropharynx in a case of the cleft of
the secondary palate, note that the equal sign
(i.e.) uvula cannot be imaged. The glottic folds
are imaged in a slightly inferior plane (Fig.
11.23d) should not be mistaken for the equal
sign of the uvula.
148
11 Isolated Cleft ofSecondary Palate
a
HP
SP
b
HP
SP
a1
b1
Fig. 11.16 Visualization of uvula in sagittal and axial
view (a) 19weeks sagittal view illustrates both the hard
palate (HP) and soft palate (SP), which ends in uvula. (a1)
a
Fig. 11.17 Visualization of uvula in coronal section (a) appearance of equal sign (white dotted circle) (Video 11.1). (b)
Non-visualization of uvula in a case of cleft in secondary palate. (white dotted circle) (Video 11.2)
Transverse axial view illustrating the typical equal sign
(dotted white circle—uvula) at the level of oropharynx. (b
and b1) 22weeks
b
11.5 Pitfalls inMid Trimester
149
a
HP
SP
Fig. 11.18 Sagittal view in normal palate vs. isolated CP
(a) normal palate, note that the bony hard palate (HP) is
continuous (arrow) with the muscular soft palate (SP),
which ends in uvula. (b) the abrupt ending of the vomer
a
ML
b
M
(V) with non-visualization of soft palate and uvula. (*)
points to the absence of the secondary palate (arrow).
Mandible (M)
b
V
c
Fig. 11.19 Isolated CP diagnosed at 13weeks and follow- up at 18weeks. Case 1: (a) Midsagittal section maxillary gap (arrow) note that the posterior aspect of the
maxillary line appears single. (b) Absence of secondary
palate (arrows) caudal to the alveolar arch in sagittal sec-
d
tion. c and d follow-up scan at 18weeks, (c) abrupt ending
vomer (arrow) with non-visualization of soft palate, uid
in the oral cavity(*) enhances visualization of defect in
secondary palate. (d) Absence of the maxillary line
(arrows) caudal to premaxilla
150
11 Isolated Cleft ofSecondary Palate
a
NB
V
M
b
A
M
M
c
Fig. 11.20 Isolated CP diagnosed at 13weeks and follow- up at 16weeks (TAS). Case: 2 (a) midsagittal section
showing absence of superimposed line sign. (b) RNT
view shows an intact base of triangle (*) and absent mandibular gap (arrow). (c) Multiplanar imaging illustrating
the posterior coronal section. (d) arrow points to intact
base and arrowheads points to defect. Follow-up scan at
16 weeks (e) midsagittal section showing absence of
superimposed line sign. (f) Line diagram illustrating the
line on the posterior aspect appears single due to the
absent posterior part of the secondary palate. Nasal bone
(NB), Vomer (V), Mandible (M), Apex (A). (Video 11.3)
11.5 Pitfalls inMid Trimester
d
151
e
Fig. 11.20 (continued)
NB
V
f
M
NB
V
M
152
11 Isolated Cleft ofSecondary Palate
a
NB
V
b
V
c
NB
V
P
Fig. 11.21 Utility of superimposed line sign in the diagnosis of posterior cleft of secondary palate. (a) Midsagittal
section illustrating single line on the posterior aspect of
the maxillary line in cleft secondary palate (b) The posterior portion of secondary palate which forms the caudal
line is highlighted in yellow. (c) Compare with midsagittal
section illustrating the bid appearance of the posterior
aspect of the maxillary line in the normal palate. Vomer
(V), palate (P). (Video 11.4)
11.5 Pitfalls inMid Trimester
153
a
NB
V
M
c
b
T
d
V
Fig. 11.22 Follow-up at 16weeks (a) Midsagittal sec-
tion illustrating receding chin (M) and absent superimposed line sign. (b) Posteriorly displaced tongue (T) with
amniotic uid (*) in oral cavity. (c) 3D HD live rendering
of the U-shaped mandible. (d) Posterior cleft of secondary
palate in axial rendered view. Vomer (V), Nasal bone
(NB), Vomer (V), Mandible (M)
154
11 Isolated Cleft ofSecondary Palate
a
NB
T
SP
c
b
HP
T
d
Fig. 11.23 Pitfalls in visualization of palate (a) echo
dropouts (arrow) in the maxillary line while imaging the
soft palate. (b) visualization of the hard palate (HP) in the
same case. (c) Transverse axial view at the base of the
References
1. Wilhelm L, Borgers H. The ‘equals sign’: a novel
marker in the diagnosis of fetal isolated cleft palate.
Ultrasound Obstet Gynecol. 2010 Oct;36(4):439–44.
2. Lakshmy SR, Rose N, Masilamani P, Umapathy
S, Ziyaulla T. Absent ‘superimposed-line’sign:
novel marker in early diagnosis of cleft of fetal secondary palate. Ultrasound Obstet Gynecol. 2020
Dec;56(6):906–15.
3. Chaoui R, Orosz G, Heling KS, Sarut-Lopez A,
Nicolaides KH.Maxillary gap at 11–13 weeks' gestation: marker of cleft lip and palate. Ultrasound Obstet
Gynecol. 2015 Dec;46(6):665–9.
4. Lachmann R, Schilling U, Brückmann D, Weichert A,
Brückmann A.Isolated cleft lip and palate: maxillary
skull showing absence of the uvula (dashed circle). (d)
The glottic folds, which are thick and more widely separated should not be mistaken for uvula (arrowheads).
Nasal bone (NB), Tongue (T), soft palate (SP)
gap sign and palatino-maxillary diameter at 11–13
weeks. Fetal Diagn Ther. 2018;44(4):241–6.
5. Lakshmy SR, Rose N, Masilamani P, Umapathy S,
Ziyaulla T.Role of TUI in rst trimester evaluation of
palate. J Fetal Med. 2019 Sep;6(3):113–21.
6. Hansen L, Nolting D, Holm G, Hansen BF, Kjaer
I. Abnormal vomer development in human fetuses
with isolated cleft palate. Cleft Palate Craniofac J.
2004 Sep;41(5):470–3.
7. Lakshmy SR, Rose N, Masilamani P, Umapathy S,
Ziyaulla T.First trimester ultrasound evaluation of the
cleft palate: midsagittal, axial or coronal view-which
view is best? J Fetal Med. 2020 Sep;7(3):183–91.
8. Tonni G, Grisolia G.Fetal uvula: navigating and lightening the soft palate using HDlive. Arch Gynecol
Obstet. 2013;288(2):239–44. https://doi.org/10.1007/
s00404- 013- 2888- 7.
Syndromes andAssociations
12
Commonly, orofacial clefts appear as isolated
condition with a generally favorable outcome, but
their frequent associations with other congenital
malformations have long been known [1]. So the
outcome depends primarily on the presence and
type of associated malformations [2–5]. The pro-
portion of cases with additional abnormalities
varies between studies ranging from 1.5% to
64.2% [6–8]. Hence when a CLP is prenatally
detected, an extensive search for the presence of
other system malformations has to be done.
This chapter deals with the prenatal diagnosis of
commonly associated malformations with CLP.We
have now moved towards the detection of anomalies in the rst trimester, thus paving the way for
early diagnosis and counseling. A brief description
of the presentation of associated malformations at
11–14weeks scan is also illustrated.
12.1 Fetal Brain inOrofacial Clefts
As the face and brain share the same timeline of
embryological development, the anomalies
affecting the face also affect the brain. The
median portion of the face and the forebrain are
closely related to prosencephalic development.
Anomalies in these mechanisms lead to typical
Supplementary Information The online version of this
chapter (https://doi.org/10.1007/978- 981- 16- 4613- 3_12)
contains supplementary material, which is available to
authorized users.
developmental disorders involving the face and
brain like holoprosencephaly [9]. Cerebellar
anomalies can also be associated with an orofacial cleft.
Figure 12.1 illustrates median CLP associated
with holoprosencephaly diagnosed at 19weeks.
The at facial prole with the absence of maxillary line is depicted in Fig. 12.1a. The midline
interruption in the lip and palate, along with the
defect in the base of retronasal triangle, is illustrated with both 2D and 3D imaging.
Figure 12.2 illustrates median CLP with holoprosencephaly diagnosed at 13 weeks of gestation. The same anatomical landmarks utilized
for diagnosing median CLP in mid trimester
can be visualized at 13weeks itself.
Most often, median CLP is associated with
holoprosencephaly. Figure12.3 is an illustration
of bilateral CLP in holoprosencephaly.
Figure 12.3a illustrates the subtle premaxillary
protrusion, and Fig.12.3c shows the median process along with bilateral paramedian defect.
Though holoprosencephaly is the most common association, cerebellar anomalies are not a
rarity. Figure 12.4 illustrates a mediolateral
defect associated with Dandy Walker
Malformation at 21weeks. Note the rotated and
hypoplastic vermis in Fig.12.4d. The same asso-
ciation, when identied in the 11–14 weeks
scan, presents as increased uid in the posterior
fossa. Figure12.5 illustrates bilateral CLP with
posterior fossa cyst and ventriculomegaly.
© The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2021
L. R. Selvaraj, T. Ziyaullah, First and Mid Trimester Ultrasound Diagnosis of Orofacial Clefts,
https://doi.org/10.1007/978-981-16-4613-3_12
155