Twining's Textbook of Fetal Abnormalities: Expert Consult: Online and Print, 3e PDF
Preview Twining's Textbook of Fetal Abnormalities: Expert Consult: Online and Print, 3e
Twining’s Textbook of Fetal Abnormalities 3rd Edition Twining’s Textbook of Fetal Abnormalities Anne Marie Coady MB ChB BAO MRCP FRCR Consultant Radiologist, Head of Obstetric and Gynaecological Ultrasound Ultrasound Department Hull and East Yorkshire Women and Children’s Hospital Hull, East Yorkshire, UK Sarah Bower MBBS MD FRCOG Consultant in Fetal Medicine Harris Birthright Research Centre for Fetal Medicine King’s College Hospital NHS Foundation Trust London, UK For additional online content visit expertconsult © 2015, 2007, 2000 by Churchill Livingstone, an imprint of Elsevier Limited. All rights reserved. The right of Anne Marie Coady and Sarah Bower to be identified as authors of this work has been asserted by them in accordance with the Copyright, Designs and Patents Act 1988. 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To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. ISBN: 9780702045912 Ebook ISBN: 9780702054075 Printed in China Last digit is the print number: 9 8 7 6 5 4 3 2 1 Content Strategist: Michael Houston Content Development Specialist: Poppy Garraway Project Manager: Julie Taylor Design: Miles Hitchen Illustrator: Antbits Ltd Preface It is hard to believe that the 1st edition of this textbook becoming familiar with the textbook The Safe Use of was published in 1999 and that 15 years later the 3rd Ultrasound in Medical Diagnosis, edited by Dr Gail ter edition is being published in the poignant setting of Haar, which is currently in its 3rd edition. the untimely and unexpected death of Peter Twining We asked our authors to incorporate cutting-edge in 2009. sections on 3D ultrasound and fetal therapy into their Those familiar with the first two editions will notice chapters for a more global overview of each subject many changes in this new edition of the book that is with the emphasis on the relation to everyday practice undoubtedly one of the authoritative standard text- of fetal diagnostic medicine, rather than having sepa- books on the sonographic diagnosis of fetal abnor- rate chapters on these topics. This has allowed us to malities. This is a textbook that most busy modern provide a greater number of superb state of the art ultrasound departments would not be without, and as images, which it is hoped, will help with both daily such Twining’s Textbook of Fetal Abnormalities has more practice, and will stimulate and encourage our readers than fulfilled the initial aims of the 1st edition. to equally high standards of scanning. The changes made to this seminal textbook reflect Thus this 3rd edition of Twining’s Textbook of Fetal the rapid advances in the field of fetal diagnostic ultra- Abnormalities succeeds in integrating a strong subspe- sound necessitating not only a 2nd but a 3rd edition. cialty knowledge base encompassing all aspects of the These changes emphasize and build on the original field of obstetric ultrasound and perinatal diagnosis premise of the 1st edition in which the quality and for patient-based clinical care. This volume will be of number of the ultrasound images in the textbook con- invaluable use to obstetricians, sonographers, paedia- tributed to its major success and appeal. Peter Twining tricians, geneticists and graduate trainees from all was an innovator and educator in the field of obstetric these fields. ultrasound who, as a pioneer in ultrasound imaging, With the great power of every improving ultra- believed that exacting high standards of scanning were sound technology comes great responsibility, and critical to clinical practice. because we can scan it is our responsibility to scan to The wealth and the standard of images that reflects the very best of our knowledge, skill, ability and train- the extensive collective scanning experience provided ing. We do hope that this textbook reflects the care, by our international contributors for this textbook thought and discipline required for the practice of fetal would have delighted Peter. diagnostic ultrasound. We have been so pleased that the most expert inter- We thank all of our contributors for their wonder- national authors from across Europe and American ful chapters. We thank all at Elsevier for their help and have contributed to this edition. Each has shared the support, in particular Poppy Garraway and Julie elements of their practice that has contributed to our Taylor. understanding and knowledge of fetal ultrasound and Most importantly we acknowledge all our patients, we recognize their support and contribution. The con- as it is their need to understand that has driven us to tinuing advances in fetal physiology, understanding of improve our diagnostic skills, to maintain high stand- the evolution and natural history of fetal abnormalities ards of practice and to learn continuously. and the emergence of fetal therapy would not be pos- sible without the dedication and commitment of the Dr Anne Marie Coady many ultrasound practitioners who have contributed Dr Sarah Bower to the world literature and to this latest edition. We no longer have a chapter on ultrasound safety but as editors we stress the importance of reading and vi List of Contributors Maria Agathokleous Anne Marie Coady, MB MRCP (UK) FRCR Research Fellow in Fetal Maternal Medicine Consultant Radiologist, Head of Obstetric and Harris Birthright Research Centre Gynaecological Ultrasound King’s College Hospital Ultrasound Department London, UK Hull and East Yorkshire Women and Children’s Hospital Lindsey D Allan, MD FRCP Hull, East Yorkshire, UK Professor of Fetal Cardiology Harris Birthright Research Centre of Fetal Medicine Luc De Catte, MD PhD King’s College Hospital Consultant in Maternal and Fetal Medicine London, UK Department of Obstetrics and Gynecology University Hospital Leuven Sarah Bower MBBS MD FRCOG Department of Development and Regeneration Consultant in Fetal Medicine Harris Birthright KU Leuven Research Centre for Fetal Medicine Leuven, Belgium King’s College Hospital NHS Foundation Trust London, UK Jan Deprest, MD PhD FRCOG Consultant in Fetal Medicine and Urogynaecology Mieke Cannie, MD PhD Department of Obstetrics and Gynecology Head of Clinic University Hospital Leuven Department of Radiology Department of Development and Regeneration University Hospital Brugmann KU Leuven Brussels, Belgium Leuven, Belgium Department of Radiology UZ Brussel, Vrije Universiteit Brussel Roland Devlieger Belgium Consultant in Maternal and Fetal Medicine Department of Obstetrics and Gynecology Rabih Chaoui, MD University Hospital Leuven Professor of Obstetrics and Gynecology Department of Development and Regeneration Center for Prenatal Diagnosis and Human Genetics KU Leuven Berlin, Germany Leuven, Belgium Petya Chaveeva H K Dhillon, FRCS(Ed) Research Fellow in Fetal Maternal Medicine Perinatal Urologist Harris Birthright Research Centre Department Of Paediatric Urology King’s College Hospital Great Ormond Street Hospital for Children London, UK London, UK Peter A Farndon, BSc MD FRCP DCH Consultant Clinical Geneticist West Midlands Regional Clinical Genetics Service Birmingham Women’s Hospital Birmingham, UK vii viii List of Contributors Jacques Jani, MD PhD Liesbeth Lewi, MD PhD Head of Department Consultant in Maternal and Fetal Medicine Department of Obstetrics and Gynecology Department of Obstetrics and Gynecology University Hospital Brugmann University Hospital Leuven Brussels, Belgium Department of Development and Regeneration KU Leuven Phillippe Jeanty Leuven, Belgium Chief Fetustician Inner Vision Women’s Health Raffaele Napolitano, MD Nashville, TN, USA Postdoctoral Clinical Research Fellow Nuffield Department of Obstetrics and Gynaecology Tessa Homfray, FRCP University of Oxford Consultant in Medical Genetics Oxford, UK St George’s University Hospital London, UK Kypros H Nicolaides, FRCOG Harris Birthright Unit, Kings College Hospital Professor and Head of Department London, UK Harris Birthright Research Centre for Fetal Medicine King’s College Hospital Katrin Karl, MD London, UK Consultant in Fetal Medicine Center for Prenatal Diagnosis Dick Oepkes, MD PhD Munich, Germany Professor in Obstetrics and Fetal Therapy Consultant Maternal-Fetal Medicine Asma Khalil Department of Obstetrics Consultant in Fetal Medicine and Obstetrics Leiden University Medical Centre Fetal Medicine Unit Leiden, The Netherlands St George’s Hospital London, UK Dario Paladini Associate Professor of Obstetrics and Gynecology Mark Kilby, DSc MD FRCOG Head, Fetal Medicine & Surgery Unit Professor of Fetal Medicine, G.Gaslini Children’s Hospital School of Clinical & Experimental Medicine and Genoa, Italy Centre for Women’s & Children’s Health, University of Birmingham. Pranav P Pandya, BSc MD FRCOG College of Medical & Dental Sciences, Consultant in Fetal Medicine University of Birmingham, Department of Obstetrics and Gynaecology Fetal Medicine Centre, University College London Hospitals Birmingham Women’s Foundation Trust, London, UK Birmingham, UK Aris T Papageorghiou, MD MRCOG Philipa Kyle, MD FRCOG Reader in Fetal Medicine Consultant Obstetrician, Subspecialist MFM St George’s University of London and St George’s Fetal Medicine Unit Hospital London Guy’s & St Thomas’ NHS Foundation Trust Fetal Medicine Unit London, UK St George’s University of London London, UK Marianne Leruez Necker-Enfants Malades Hospital Paris, France List of Contributors ix Susana Pereira, MD Natalie Suff Subspecialty Trainee in Fetal Maternal Medicine Academic Speciality Trainee Harris Birthright Research Centre University College London King’s College Hospital London, UK London, UK Meekai To, BM BS BMedSci MD Jeremy W Pryce, MB BS MD Consultant in Fetal Medicine and Obstetrics GOSH BRC Academic Clinical Lecturer in Paediatric Harris Birthright Centre Pathology King’s College Hospital Great Ormond Street Hospital/Institute of Child London, UK Health, University College London Hospitals Irina Tsikhanenka, MD PhD London, UK Chief of Ultrasound Prenatal Diagnostic Center Sarah A Russell, MB ChB FRCR Minsk, Belarus Consultant Radiologist (Retired) Yves Ville, MD formerly of The Fetal Management Unit Professor of Obstetrics and Fetal Medicine St Mary’s Hospital Department of Obstetrics and Fetal Medicine Manchester, UK University Paris Descartes, GHU Necker-Enfants Malades Srividhya Sankaran, MRCOG Paris, France Consultant in Maternal-Fetal Medicine Michael J Weston, MB ChB FRCR MRCP Department of Women’s Health Guy’s and St. Thomas’ NHS Foundation Trust Consultant Radiologist London, UK Ultrasound Department St James’ University Hospital Makrina Savvidou, MD MRCOG Leeds, UK Consultant in Fetal Medicine and Obstetrics Christina K H Yu, MD MRCOG Chelsea & Westminster Hospital Imperial College London Consultant in Obstetrics and Fetal Medicine London, UK Department of Obstetrics and Gynaecology St Mary’s Hospital Neil J Sebire, MB BS BClinSci DRCOG MD FRCPath London, UK Professor of Paediatric and Developmental Pathology Vita Zidere, MD FRCP Great Ormond Street Hospital/Institute of Child Health, University College London Hospitals Consultant in Paediatric and Fetal Cardiology London, UK Harris Birthright Research Centre of Fetal Medicine King’s College Hospital Tara Selman, PhD MRCOG London, UK Consultant in Maternal & Fetal Medicine Birmingham Women’s Foundation Trust, Birmingham, UK Dedication To my mother and father for their unstinting encouragement always. To my husband Stephen for all his support patience and wisdom. To my wonderful sons, Ben, Sam, Nick and Alex for making every day special and different. ANNE MARIE COADY To my husband Jean-Luc for his unwavering support and my daughter El for always managing to make me smile. SARAH BOWER x 1 First-Trimester Detection of Fetal Anomalies Chapter 1 First-Trimester Detection of Fetal Anomalies Raffaele Napolitano and Aris T Papageorghiou Chapter Outline Introduction Introduction The first trimester of pregnancy is generally consid- Viability, Multiple Pregnancy and Gestational Age ered to be the first 13 completed weeks. In the past, Assessment first-trimester ultrasound has mainly been used to Diagnosis of Fetal Abnormalities confirm fetal viability, establish pregnancy location, Considerations of Embryological Development count the number of fetuses and assess gestational age by measurement of fetal crown rump length (CRL). A First-Trimester Screening for Fetal Abnormalities major breakthrough in screening for fetal abnormali- Nuchal Translucency Screening for Fetal ties was the finding that fetal nuchal translucency is Abnormalities increased in cases of chromosomal abnormalities and Normal Appearances (Sonoembryology) other fetal anatomical defects, and this forms the basis Gestational Sac, Yolk Sac and Fetal Pole of screening for chromosomal abnormalities in many Central Nervous System countries. With further improvements in ultrasound The Heart technology it has become increasingly feasible to Urinary Tract examine the fetal anatomy in the first trimester. It is The Abdomen advisable to perform the scan at 11 + 0 to 13 + 6 Extremities weeks’ gestation as this allows confirmation of viabil- The Face ity, accurate assesment of gestational age and number Fetal Abnormalities of viable fetuses in addition to evaluation of anatomy Central Nervous System Anomalies and calculation of risk of aneuploidy.1 There are a Urinary Tract Abnormalities number of differences and advantages to screening for abnormalities in the first trimester over the second Abnormalities of the Gastrointestinal Tract trimester (Table 1-1). The recently published guide- Thoracic Abnormalities lines on the first trimester scan by the International Skeletal Abnormalities Society of Obstetrics and Gynaecology lists the struc- Abnormalities of the Hands and Feet tures which it should be possible to visualize and Abnormalities of the Face and Neck assess in the first-trimester routine screening examina- References tion.2 (Table 1-2). Viability, Multiple Pregnancy and Gestational Age Assessment About 2.8% of pregnancies will be non-viable at 10–13 weeks of gestation and chromosomal abnor- malities may be present in 45–70% of these.3 1 2 1 First-Trimester Detection of Fetal Anomalies TABLE 1-1 Advantages and Disadvantages TABLE 1-2 Suggested Anatomical to Screening for Abnormalities in the First Assessment at Time of 11 to Trimester Over the Second Trimester 13+6-week scan Disadvantages of Organ/Anatomical Area Present and/or Normal? Advantages of First- First-Trimester Diagnosis Head Present Trimester Scanning of Fetal Anomalies Cranial bones Establishing fetal viability Difficulties in technique Midline falx and excluding early of transvaginal fetal Choroid-plexus-filled pregnancy complications scanning ventricles Confirming multiple Inability to detect all Neck Normal appearance pregnancy and abnormalities due to Nuchal translucency determining chorionicity the natural history of thickness (if accepted Accurate dating for some anomalies after informed consent estimated date of delivery Significance of minor and trained/certified and as a baseline for both anomalies unclear at operator available) first- and second-trimester present Face Eyes with lens* biochemical screening Pitfalls in first-trimester Nasal bone* Early detection of fetal diagnosis of fetal Normal profile/mandible* abnormalities anomalies Intact lips* Termination of pregnancy No pathological Spine Vertebrae (longitudinal and may be carried out as a confirmation of axial)* suction curettage diagnosis Intact overlying skin* Nuchal translucency High spontaneous loss Chest Symmetrical lung fields measurement for the rate in fetuses with No effusions or masses detection of chromosomal major abnormalities Heart Cardiac regular activity disease, and as a marker Four symmetrical for other syndromes and chambers* structural abnormalities, Abdomen Stomach present in left especially cardiac upper quadrant anomalies Bladder* Kidneys* Abdominal wall Normal cord insertion No umbilical defects Extremities Four limbs each with three segments First-trimester ultrasound is highly accurate in diag- Hands and feet with normal nosis of non-viable pregnancies, but it is important to orientation* Placenta Size and texture ensure that missed miscarriage is distinguished from Cord Three-vessel cord* a very early viable pregnancy where the fetal heartbeat is simply not seen. This should be of particular concern *Optional structures. within the first 6–8 weeks. Recent studies suggest that a mean sac diameter (MSD) cut-off of over 25 mm and a CRL of over 7 mm minimizes the risk of a false- perinatal complications are greater in monochorionic positive diagnosis of miscarriage4 (Figures 1-1 and than dichorionic twin pregnancies. Monochorionic 1-2). In cases where these measurements are below twins have approximately a three- to five-fold increase the threshold for a one-stop diagnosis a further scan in perinatal morbidity compared to dichorionic twins. should be arranged in 7 days to assess embryonic or In monochorionic twin pregnancies the majority of sac growth in that interval. the pregnancy losses will occur between the first and Multiple pregnancy is present in about 3%5 of first- the second trimester,6 and are mostly due to acute twin trimester ultrasound scans, and in these cases assess- to twin transfusion syndrome (ATTTS), selective ment of chorionicity is crucial, as antenatal and fetal growth restriction, and discordance for fetal
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