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- •Foreword
- •Preface
- •Acknowledgements
- •Contents
- •About the Authors
- •Abbreviations
- •List of Videos
- •1: Orofacial Clefting
- •References
- •2.2 Palate Formation
- •References
- •1.3 Clinical Implications
- •3.3 Recent Nomenclature
- •References
- •4.2.1 Sagittal View
- •4.2.2 Axial View
- •4.2.3 Coronal View
- •References
- •5.1 Maxillary Gap Sign
- •5.2 Retronasal Triangle Sign
- •5.3 Palatino-Maxillary Diameter
- •5.4 Frontal Space Distance
- •5.5 Superimposed Line Sign
- •References
- •6.1 Multiplanar Imaging
- •6.2 Volume Contrast Imaging
- •6.3 Omni View Technique
- •6.5 Tomographic Ultrasound Imaging
- •References
- •7.4 Atypical Cleft
- •References
- •8.1.1 Fetal Position
- •8.1.2 Swallowing Fluid Dynamics
- •8.2.1 Sagittal Plane
- •8.2.2 Axial Plane
- •8.2.3 Coronal Plane
- •8.3 Palatine Biometry
- •References
- •9.1 Reversed Face View
- •9.2 Flipped Face View
- •9.4 Surface-Rendered Oropalatal (SROP) View
- •References
- •10.1 Unilateral
- •10.2 Bilateral
- •10.3 Median
- •References
- •References
- •12.3 Pierre Robin Syndrome
- •References
- •13.3 3D Imprinting
- •References

First and Mid Trimester
Ultrasound Diagnosis
ofOrofacial Clefts
An Atlas and Guide
LakshmyRaviSelvaraj
ThasleemZiyaullah
123

First and Mid Trimester Ultrasound
Diagnosis of Orofacial Clefts

LakshmyRaviSelvaraj
ThasleemZiyaullah
First and Mid Trimester
Ultrasound Diagnosis
of Orofacial Clefts
An Atlas andGuide

LakshmyRaviSelvaraj
Shri Lakshmi Clinic and Scan Centre
Krishnagiri
Tamil Nadu
India
ThasleemZiyaullah
Shri Lakshmi Clinic and Scan Centre
Krishnagiri
Tamil Nadu
India
ISBN 978-981-16-4612-6 ISBN 978-981-16-4613-3 (eBook)
https://doi.org/10.1007/978-981-16-4613-3
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature
Singapore Pte Ltd. 2021
This work is subject to copyright. All rights are solely and exclusively licensed by the Publisher,
whether the whole or part of the material is concerned, specically the rights of translation,
reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microlms or in any
other physical way, and transmission or information storage and retrieval, electronic adaptation,
computer software, or by similar or dissimilar methodology now known or hereafter developed.
The use of general descriptive names, registered names, trademarks, service marks, etc. in this
publication does not imply, even in the absence of a specic statement, that such names are
exempt from the relevant protective laws and regulations and therefore free for general use.
The publisher, the authors, and the editors are safe to assume that the advice and information in
this book are believed to be true and accurate at the date of publication. Neither the publisher nor
the authors or the editors give a warranty, expressed or implied, with respect to the material
contained herein or for any errors or omissions that may have been made. The publisher remains
neutral with regard to jurisdictional claims in published maps and institutional afliations.
This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd.
The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore
189721, Singapore

This book is dedicated to
• The Almighty for it is his will that paved the way to write
this book
• All the rural healthcare practitioners who strive to achieve
institutional care to antenatal women with very limited
resources.

Foreword
It is with great pleasure that I hold in my hands this impressive book of Dr.
Lakshmy and Dr. Thasleem on First and Midtrimester Ultrasound Diagnosis
of Orofacial Clefts: An Atlas and Guide. Facial clefts are among the most
common structural anomalies in humans, with an incidence of 1:600 live
births and necessitating medical intervention in the neonatal period and
beyond. Prenatal diagnosis of facial clefts is crucial in order to plan delivery
at a specialised centre and to prepare the parents for the postnatal procedures.
Facial clefts are also markers of numerous syndromic conditions and their
detection should alert the examiner to look for additional anomalies in the
fetus. For this reason, it is important to have the diagnosis achieved as early
as possible in pregnancy, such as in the rst trimester of gestation. Detection
rate of facial clefts in the rst trimester is still low as shown in large cohort
studies, and this book will undoubtedly play a major role in expanding knowledge, which will translate into improved prenatal detection and outcome. The
authors of this book have presented in the last few years several scientic
papers, showing how to improve diagnosis in early gestation by using various
planes and signs including the retronasal triangle, the maxillary gap and the
newly reported superimposed lines sign. Their strong commitment to improve
antenatal detection of facial clefts, culminated with the publication of this
dedicated book.
The book is very well structured and is presented in 13 chapters with the
most up-to-date knowledge on this eld. The systematic approach includes
chapters on epidemiology and genetics, embryology of the fetal face, the primary, secondary palate and the vomer, followed by the classication of orofacial clefts. Ultrasound anatomy of the palate at 11 to 14 weeks and at 20
weeks of gestation is very well presented with exceptional drawings and gures and complemented by the presentation of the ultrasound signs and markers, which can be applied in the detection of palatine clefts. The use of 3D
techniques in the rst and second trimester is also well described. Protocols
for the detection of facial clefts are also presented. A chapter on associated
syndromic conditions and future aspects complete this guide and atlas. The
book includes a total of more than 170 high-resolution gures and schemes in
addition to a link to 35 videos fullling nicely the title of this book as being
not only a guide but also an atlas. We have debated for years the role of the
rst trimester ultrasound as whether it is just a screening for aneuploidy or an
early anatomy survey. This debate is no longer valid, as this book of Drs.
Lakshmy and Thasleem completes the detailed rst trimester anatomy scan
vii

viii
by tackling the last frontier: the sonographic anatomy of the fetal face and the
elusive diagnosis of facial clefting.
I congratulate the authors of this book and atlas for this incredible product.
It should indeed be on the desk of any sonographer or physician with an interest in prenatal diagnosis and a focus on improving pregnancy counselling and
outcome. I cannot wait to get my inscribed copy soon.
July 2021.
RabihChaoui
Professor of Obstetrics & Gynecology,
Prenatal Diagnosis and Human Genetics Center,
Berlin, Germany
Foreword

Preface
Over the past two decades, imaging the palate had been a grey zone in prenatal ultrasound, and with advancement in equipment and technology, our
understanding of the palate has tremendously improved in recent years.
Three-dimensional evaluation of the palate has long been both a matter of
priority and controversy. Recent years have witnessed various new techniques
proposed by different authors to evaluate the palate and each of them have
their own merits.
The rst trimester evaluation of the palate is now gaining importance.
Formation of the palate is completed by 11 weeks of gestation, and as there
are no evolving changes in palatine embryology at the mid-trimester, diagnosis of palatine clefts can be shifted to the late rst trimester. It is ideally the
right time for a book which gives comprehensive information on a methodical approach to rst and mid-trimester imaging of the palate. This book is a
compilation of our observations on the fetal palate over a period of nine years
at our centre.
This book is organised into thirteen chapters. The rst chapter highlights
the burden of orofacial clefts and the need for prenatal diagnosis. This is followed by the second chapter which deals with embryology and anatomy of
the palate. A simple brief description of the classication of orofacial cleft is
dealt with. Subsequently, the chapters are equally divided between rst trimester and mid-trimester diagnosis. The sonoanatomy, diagnosis and denition of the type and extent of cleft along with multiplanar imaging have been
dealt in an easily understandable format.
As this book is an atlas on ultrasound diagnosis, the emphasis is only on
the ultrasound images and their description which would help the reader to
arrive at a precise diagnosis. The book is written in a paragraph format with
the key diagnostic points highlighted in bold and italics. Schematic diagrams
of the various types of palatine clefts and their corresponding appearance in
ultrasound imaging enable easy comprehension.
The act of swallowing in fetus and uid in the oral cavity are the essential
prerequisites for imaging the secondary palate in mid-trimester. Dynamic
study of fetal swallowing is illustrated in the form of cine loops which highlights the nuances in imaging the secondary palate. Moreover, the concept of
3D imaging has been simplied and clearly illustrated in various case
scenarios.
The readers are encouraged to refer to more literature regarding counselling and prognostic implications for the management of orofacial clefts. This
ix

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book would serve as a ready reference guide for the imaging specialist
involved in prenatal diagnosis. We hope that this book would give essential
information in diagnosing orofacial cleft both to the novice and to the skilled
professionals involved in the eld of diagnostic fetal ultrasound.
Tamil Nadu, India S.R.Lakshmy
Z.Thasleem
Preface

Acknowledgements
We extend our heartfelt thanks to
• Our families for their love and support.
• Our colleagues and friends for their professional help which made this
book possible.
• The staff of SHRI LAKSHMI CLINIC AND SCAN CENTRE for their
relentless support.
• Our referral clinicians for their belief in us.
• Springer for having made this book a truly memorable experience.
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