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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_5805_Библиотеки_им_академика_М_И_Перельмана.pdf
Contents
1 Orofacial Clefting . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
1.1 Epidemiology and Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
1.2 Incidence and Prevalence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
1.3 Clinical Implications . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
1.4 Impact of Orofacial Cleft in Perinatology . . . . . . . . . . . . . . . . 2
1.5 Global Burden of Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3
2 Embryology and Anatomy of Palate . . . . . . . . . . . . . . . . . . . . . . . 5
2.1 Development of Face . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5
2.2 Palate Formation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6
2.2.1 Development of the Primary Palate . . . . . . . . . . . . . . . 7
2.2.2 Development of Secondary Palate . . . . . . . . . . . . . . . . 7
2.3 Anatomy of Palate . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8
2.4 Anatomy of Vomer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
3 Classification of Orofacial Clefts . . . . . . . . . . . . . . . . . . . . . . . . . . 11
3.1 Classication of Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . 11
3.2 Classication of Facial Cleft . . . . . . . . . . . . . . . . . . . . . . . . . . 13
3.3 Recent Nomenclature . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16
4 Sonoanatomy of Palate at 11–14 Weeks . . . . . . . . . . . . . . . . . . . . 17
4.1 Normal Appearance of Palate . . . . . . . . . . . . . . . . . . . . . . . . . 17
4.2 Sections of Basic Examination . . . . . . . . . . . . . . . . . . . . . . . . 17
4.2.1 Sagittal View . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17
4.2.2 Axial View . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20
4.2.3 Coronal View . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20
4.3 Integrity of the Palate . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21
4.4 Ossication of the Palate . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 30
5 Signs and Markers in the Detection
of First-Trimester Palatine Clefts . . . . . . . . . . . . . . . . . . . . . . . . . 31
5.1 Maxillary Gap Sign . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31
5.2 Retronasal Triangle Sign . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31
5.3 Palatino-Maxillary Diameter . . . . . . . . . . . . . . . . . . . . . . . . . . 32
5.4 Frontal Space Distance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33
xiii
xiv
5.5 Superimposed Line Sign . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34
5.6 Overview of Markers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 36
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 38
6 3D Techniques to Evaluate Palate at 11–14 Weeks . . . . . . . . . . . 39
6.1 Multiplanar Imaging . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
6.2 Volume Contrast Imaging . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40
6.3 Omni View Technique . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41
6.4 Rendered View of the Intraoral Surface of the Palate . . . . . . . 42
6.5 Tomographic Ultrasound Imaging . . . . . . . . . . . . . . . . . . . . . . 43
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48
7 Protocol for Diagnosing Type and Extent
of a Cleft in First Trimester . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49
7.1 Unilateral Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . . . . . . 49
7.2 Bilateral Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . . . . . . . . 57
7.3 Median Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . . . . . . . . 62
7.4 Atypical Cleft . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 67
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 79
8 Sonoanatomy of Palate at 20 Weeks . . . . . . . . . . . . . . . . . . . . . . . 81
8.1 Technique of Visualizing Palate . . . . . . . . . . . . . . . . . . . . . . . . 81
8.1.1 Fetal Position . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 82
8.1.2 Swallowing Fluid Dynamics . . . . . . . . . . . . . . . . . . . . 82
8.1.3 Angle of Insonation . . . . . . . . . . . . . . . . . . . . . . . . . . . 83
8.2 Planes of Evaluating Palate . . . . . . . . . . . . . . . . . . . . . . . . . . . 83
8.2.1 Sagittal Plane . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83
8.2.2 Axial Plane . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 84
8.2.3 Coronal Plane . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
8.3 Palatine Biometry . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 88
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
Contents
9 3D Techniques to Evaluate Palate in Mid Trimester . . . . . . . . . . 93
9.1 Reversed Face View . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 94
9.2 Flipped Face View . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 95
9.3 Omni View Technique in Visualizing the Palate . . . . . . . . . . . 96
9.4 Surface-Rendered Oropalatal (SROP) View . . . . . . . . . . . . . . 96
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 101
10 Protocol for Diagnosing Type and Extent
of a Cleft in Mid Trimester . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 103
10.1 Unilateral . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 103
10.2 Bilateral . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 113
10.3 Median . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 130
11 Isolated Cleft of Secondary Palate . . . . . . . . . . . . . . . . . . . . . . . . . 131
11.1 Description of Isolated Cleft of Secondary Palate . . . . . . . . . 131
11.2 Diagnostic Approach with Sonographic Signs
in First Trimester . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131
11.3 Pitfalls in First Trimester . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
Contents
xv
11.4 Diagnostic Approach with Sonographic Signs
in Mid Trimester . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
11.5 Pitfalls in Mid Trimester . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 154
12 Syndromes and Associations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 155
12.1 Fetal Brain in Orofacial Clefts . . . . . . . . . . . . . . . . . . . . . . . . 155
12.2 Common Syndromes Associated with Clefts
and Micrognathia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 159
12.3 Pierre Robin Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 161
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 167
13 Scope for Future . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 169
13.1 Screening for Orofacial Cleft . . . . . . . . . . . . . . . . . . . . . . . . . 169
13.2 Ultrasound and MRI in Detecting Orofacial Cleft . . . . . . . . . 170
13.3 3D Imprinting . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 170
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 172
About the Authors
S.R.Lakshmy is Consultant and Director of Shri Lakshmi Clinic and Scan
Centre, Krishnagiri, Tamil Nadu. She is a gold medallist and the best outgoing student of 1993 Batch at Government Mohan Kumaramangalam Medical
College, Salem. She is one of the leading pioneers in the implementation of
prenatal screening in a rural setup over the last 20 years. She has set her practice in and around Krishnagiri district catering to the needs of antenatal
women in a low-resource setting. Dr. Lakshmy is an invited speaker in many
national and international conferences. She has done exemplary work in
imaging the fetal palate in the rst trimester and have delivered many lectures
on the fetal palate. In the last few years, Dr. Lakshmy SR has authored numerous insightful papers in the eld of prenatal ultrasound diagnosis and has
published over fteen papers on the rst trimester evaluation of the fetus.
Z. Thasleem graduated from PSG Institute of Medical Science and
Research, Coimbatore, and obtained her Master’s in Obstetrics and
Gynaecology from Vinayaka Missions Kirupananda Variyar Medical College
and Hospital, Salem. She is a university topper and gold medallist in her
postgraduation. She is a Consultant at Shri Lakshmi Clinic and Scan Centre
and has co-authored more than fteen publications with Dr. Lakshmy SR.Her
special areas of interest are rst trimester evaluation of the fetus, screening
for PE and FGR and infertility.
xvii
Abbreviations
2D Two dimensional
3D Three dimensional
ACPA American Cleft Palate-Craniofacial Association
BPD Biparietal diameter
CL Cleft lip
CL/P Cleft lip with or without cleft palate
CLP Cleft lip and palate
CNS Central nervous system
CP Cleft palate
CRL Crown-rump length
CSP Cavum septum pellucidum
CT Computerised tomography
DWM Dandy Walker malformation
FS Frontal space
HD High denition
IT Intracranial translucency
MM line Mandible and the maxilla line
MNM Maxilla nasion mandible
MRI Magnetic resonance imaging
NB Nasal bone
NT Nuchal translucency
OFC Orofacial cleft
PMD Palatino-maxillary diameter
PMP Premaxillary protrusion
PMT Premaxillary triangle
PRS Pierre Robin sequence
RNT Retronasal triangle
SLS Superimposed line sign
SROP View Surface-rendered oropalatal view
SRPS Short rib polydactyly syndrome
TAS Transabdominal scan
TBX22 T-box transcription factor 22
TGFα Transforming growth factor alpha
TGFβ3 Transforming growth factor beta 3
TUI Tomographic ultrasound imaging
xix
xx
TVS Transvaginal scan
UCLP Unilateral cleft lip and palate
u-UCLP Uncommon cleft subtype of unilateral cleft lip and palate
VCFS Velocardiofacial syndrome
VCI Volume contrast imaging
Abbreviations
List of Videos
Video 4.1 The three components of the maxillary line in real-time
imaging in midsagittal section at 14weeks. Arrow points to
the superimposed line, which is the vomer
Video 4.2 The technique of visualizing the transverse axial view of the
palate from the BPD plane at 13weeks. Arrow points to the
palate
Video 4.3 Shows the translational movement from the nose chin view
to the retronasal triangle in the coronal section at 14weeks
Video 5.1 Midsagittal section illustrating the maxillary gap and
premaxillary protrusion in a case of bilateral CLP at
12+4weeks. Arrowhead points to the maxillary gap
Video 5.2 Shows the shortening of the maxillary line in real-time
imaging when one moves to and fro from the midsagittal
section in a case of the isolated cleft palate at 14weeks.
Arrow points to the absent posterior segment of the maxillary line
Video 5.3 Visualization of the superimposed line sign in real-time
imaging at 14weeks. Arrowhead points to the superimposed
line
Video 6.1 Multiplanar imaging illustrating the simultaneous visualiza-
tion of maxillary line in sagittal view and the palate in the
axial view at 14 weeks
Video 6.2 Illustration of the anatomy of the retronasal triangle in
multiplanar imaging using the reference dot at 14 weeks
Video 7.1 Illustration of the defect in the alveolar arch in a case of
unilateral CLP at 13
defect
Video 7.2 Multiplanar imaging in unilateral CLP with the defect
highlighted in all three planes at 13+4 weeks
Video 7.3 Illustrates the shortening of the maxillary line in the parasag-
ittal section in unilateral CLP at 13+4 weeks. Arrow points to
the absent proximal segment of the maxillary line in the
parasagittal section
Video 7.4 Bilateral CLP with an intact secondary palate, uid in the
oral cavity outlines the hard palate and soft palate at 13+6
weeks. Arrow points to the soft palate
+4
weeks. Arrow points to the lateralized
xxi
xxii
Video 7.5 3D sagittal section illustrating the vomer seen in the midline
and complete absence of the maxillary line in parasagittal
section in a case of complete bilateral CLP at 12weeks.
Arrowhead points to the maxillary line
Video 7.6 Premaxillary protrusion and a very subtle maxillary gap in a
case of bilateral CLP at 13+6 weeks. Arrowhead points to
premaxillary protrusion
Video 7.7 Multiplanar imaging in median CLP illustrating the midline
defect in three orthogonal planes at 13+3 weeks
Video 7.8 Sagittal section illustrating the complete absence of the
maxillary line in a case of median CLP with holoprosencephaly at 13+6 weeks. Arrow points to the absence of
maxillary line
Video 8.1 Visualization of uvula as the equal sign in axial view in
real-time imaging at 22weeks. White circle highlights the
uvula
Video 8.2 Fluid in the oral cavity during swallowing movements of the
fetus enhances visualization of secondary palate in the
sagittal section at 22weeks
Video 8.3 Midsagittal section in a case of cleft of the secondary palate
illustrating the absence of the palate and communication
between the oral cavity and nasal cavity at 24weeks.
Arrowhead points to vomer
Video 8.4 Visualization of the secondary palate using angled insonation
technique at 18+5 weeks. White circle highlights the soft
palate
Video 8.5 Visualization of the superimposed line sign at 20weeks.
Arrow points to the vomer
Video 8.6 Illustration of receding maxillary line in a case of median
CLP at 19+4 weeks. Arrowhead points to the absent premaxillary segment
Video 8.7 Illustration of the tongue obscuring the margins of the defect
in the secondary palate in a case of bilateral CLP at
31weeks. Arrow points to defect in soft tissue and the
interrupted alveolar arch
Video 9.1 Illustrates a sweep from the nose chin view to the posterior
coronal view to determine cleft extension in a case of
unilateral CLP at 25weeks. Yellow dot highlights the cleft
side
Video 9.2 Illustration of the lateralized defect in the nose chin view
extending to the secondary palate at 33weeks
Video 10.1 Lateralized defect in the upper lip in a case of unilateral CLP
+4
at 22
weeks
Video 10.2 3D axial sweep illustrating the defect in the maxillary arch in
a case of mediolateral CLP at 19+4 weeks. Arrow points to
defect in the alveolar arch
List of Videos
List of Videos
xxiii
Video 10.3 Complete bilateral CLP at 24weeks. Fluid in the oral cavity
demonstrates that there is no intervening secondary palate
between the nasal cavity and oral cavity
Video 10.4 Complete bilateral CLP at 20+5 weeks. Illustration of the
abrupt ending vomer with non-visualization of the secondary
palate. Arrow points to the vomer
Video 10.5 Illustration of the premaxillary protrusion and the vomer in a
case of bilateral CLP at 22+6 weeks. Yellow arrow points to
the absence of secondary palate
Video 11.1 Visualization of the uvula in the frontal section at 19weeks.
White circle highlights the uvula
Video 11.2 Non-visualization of uvula in a case of cleft of the secondary
palate at 21weeks. White circle highlights the absence of the
uvula
Video 11.3 Isolated cleft palate at 13weeks. Posterior segment of the
secondary palate is decient in midsagittal section, and
hence a single line is seen. Arrow points to the absent
superimposed line sign
Video 11.4 Illustration of the superimposed line sign at 17weeks.
Arrowhead points to vomer
Video 12.1 Glossoptosis in Pierre Robin Sequence at 13+2 weeks. Note
the vertically positioned tongue
Orofacial Clefting
1
Orofacial clefts are dened as a failure to either
completely merge or fuse in developing embryonic facial and palatal processes [1]. Cleft lip and
palate can occur isolated or as part of a genetic
syndrome and are also commonly associated
with other systemic malformations. Affected
children suffer a range of medical problems that
include feeding difculties at birth, swallowing,
and nasal regurgitation, hearing difculties due
to abnormalities in the palatal musculature and
speech difculties due to nasal escape and articulation problems. Orofacial clefts have a longterm, adverse inuence on the well-being and
social integration of affected individuals in society [2, 3].
However, cleft care organizations can signicantly reduce the burden of parents by providing
cleft care to the affected children [4]. Further,
children who receive successful treatment can
potentially serve to reduce stigma within their
communities [5]. Prenatal diagnosis not only
aids in counseling and sensitizing couples to
oral clefts but also paves the way for providing
timely and affordable cleft care.
ciencies and exposure to medications and
teratogens in early pregnancy are known etiological factors for CLP. Maternal exposure to
tobacco products, alcohol, and viral infections
in early pregnancy is the other common environmental factor [6]. Moreover, consanguinity
and positive family history for orofacial clefts
also play a role [7, 8].
To date, more than 100 genes have been associated with facial clefts, but the underlying mechanisms of these associations remain poorly
understood. Genes responsible for growth factors
(e.g., TGFα, TGFβ3), transcription factors (e.g.,
TBX22), factors inuencing xenobiotic metabolism, nutrient metabolism and immune response
are known to have a role. Chromosomal regions
that were commonly associated with clefting
involved deletions and duplications at 1q25,
3p21, 4p15, 4q32, and 10p15. The exact genetic
association in nonsyndromic orofacial clefts
remains poorly characterized [9–11].
1.2 Incidence andPrevalence
Cleft lip with or without cleft palate (CL/P) is
1.1 Epidemiology andGenetics
Orofacial clefts can either be syndromic or nonsyndromic, sporadic, or familial, and their etiology involves a combination of genetic and
environmental risk factors. Nutritional de-
© 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_1
one of the most common facial malformations
with an incidence of 1in 600 to 1in 1000 with
signicant ethnic and racial variation [1, 12].
Cleft palate alone has an incidence of about
1in 1500 to 1in 2000, and this is the group that
is often missed in prenatal screening. For every
1