Fetal Cardiology A Practical Approach to Diagnosis and Management John Simpson Vita Zidere Owen I. Miller Editors 123 Fetal Cardiology John Simpson • Vita Zidere Owen I. Miller Editors Fetal Cardiology A Practical Approach to Diagnosis and Management Editors John Simpson Vita Zidere Evelina London Children’s Hospital Evelina London Children’s Hospital Guy’s and St Thomas’ Guy’s and St Thomas’ NHS Foundation Trust NHS Foundation Trust London London UK UK Owen I. Miller King’s College Hospital Evelina London Children’s Hospital NHS Foundation Trust Guy’s and St Thomas’ London NHS Foundation Trust UK London UK ISBN 978-3-319-77460-2 ISBN 978-3-319-77461-9 (eBook) https://doi.org/10.1007/978-3-319-77461-9 Library of Congress Control Number: 2018953694 © Springer International Publishing AG, part of Springer Nature 2018 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms 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 specific 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, express 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 affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland Foreword This book represents a major collaborative effort between experts in fetal cardiology, fetal medicine and genetics from recognised centres of excellence in the UK. It provides a plethora of images and videos and extensive descrip- tion of the essential views for examination of the anatomy and function of the fetal heart and features of the major types of congenital heart defects. In the case of heart defects, the reader will gain a clear understanding of the diagnosis and the need to search for other abnormalities by detailed ultra- sound examination. Invasive testing, examination of cell-free DNA in mater- nal blood, parental counselling and postnatal care are also discussed. To date, fetal cardiac imaging has been almost exclusively the preserve of ultrasound. This book includes the latest advances in fetal cardiac MRI to investigate anatomic abnormalities and assessment of blood flow. The book provides essential reading for experts in fetal medicine and pae- diatric cardiology but also for obstetricians, sonographers and midwives because fetal echocardiography and the diagnosis and management of fetal heart abnormalities constitute an integral part of prenatal care. Kypros Nicolaides v Acknowledgements The contribution of all members of the fetal cardiology team at Evelina London Children’s Hospital and King’s College Hospital to diagnosis and management is acknowledged. Pioneers in fetal cardiology from our cen- tre, including Professor Lindsey Allan, Professor Gurleen Sharland and the late Dr. Ian Huggon, are thanked for their inspirational teaching and commitment. Thanks to my wife Sahar and my children Angus and Alexandra for their support and for putting up with me during the writing of this book. John Simpson I would like to thank my parents Gunta and Andris for all their love and support at every stage of my career. Vita Zidere I acknowledge the support of my wife Vanda, and of my children Hamish, Maddy and Angus, whilst putting together this book. Owen I. Miller vii Contents 1 Organisation of Screening for Congenital Heart Disease . . . . . 1 John Simpson 2 Screening Views of the Fetal Heart . . . . . . . . . . . . . . . . . . . . . . . 9 Lindsey E. Hunter 3 Extended Views of the Fetal Heart . . . . . . . . . . . . . . . . . . . . . . . 21 Vita Zidere and John Simpson 4 Use of Doppler Techniques in Fetal Echocardiography . . . . . . 29 Owen I. Miller 5 Fetal Cardiac Function . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 John Simpson 6 First Trimester Fetal Echocardiography . . . . . . . . . . . . . . . . . . 57 Vita Zidere 7 Abnormalities of the Four Chamber View . . . . . . . . . . . . . . . . . 71 Owen I. Miller, John Simpson, and Vita Zidere 8 Abnormalities of the Great Arteries . . . . . . . . . . . . . . . . . . . . . . 101 John Simpson 9 Aortic Arch Abnormalities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 139 Trisha Vigneswaran and Vita Zidere 10 Abnormalities of the Systemic and Pulmonary Veins . . . . . . . . 153 Marietta Charakida and John Simpson 11 Fetal Arrhythmias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 169 Trisha Vigneswaran and John Simpson 12 Role of Fetal Cardiac Magnetic Resonance Imaging . . . . . . . . . 189 Kuberan Pushparajah and David F.A. Lloyd 13 Counselling Following a Prenatal Diagnosis of Congenital Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 199 Judith Tenenbaum 14 Fetal Abnormalities Associated with Congenital Heart Defects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 209 Elena Greco and Sarah Bower ix x Contents 15 G enetics of Congenital Heart Disease . . . . . . . . . . . . . . . . . . . . . 249 Sahar Mansour 16 I mpact of Prenatal Diagnosis of Congenital Heart Disease on Outcome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 269 Lindsey E. Hunter 17 O bstetric and Fetal Medicine Management of the Fetus with Congenital Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . 279 Fergus P. McCarthy, Pippa Kyle, and Owen I. Miller 18 P ost-Natal Cardiac Management of the Fetus with Congenital Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 287 Marietta Charakida and Owen I. Miller Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 301 Abbreviations A Atrium Ao Aorta ALSA Aberrant left subclavian artery ARSA Aberrant right subclavian artery AVSD Atrioventricular septal defect bpm Beats per minute CAT Common arterial trunk CHD Congenital heart disease CoA Coarctation of the aorta CPAM Congenital pulmonary airway malformation CTR Cardio-thoracic ratio D Duct (arterial) DILV Double inlet left ventricle DORV Double outlet right ventricle HLH Hypoplastic left heart IA Innominate artery IVC Inferior vena cava L Left LA Left atrium LCA Left carotid artery LPA Left pulmonary artery LSA Left subclavian artery LV Left ventricle LVOT Left outflow tract MAPCAS Major aortopulmonary collateral arteries MV Mitral valve O Oesophagus PA Pulmonary artery PAIVS Pulmonary atresia with intact ventricular septum PLSVC Persistent left superior vena cava PV Pulmonary vein R Right RA Right atrium RCA Right carotid artery xi xii Abbreviations RVOT Right ventricular outflow tract RPA Right pulmonary artery branch RSA Right subclavian artery RV Right ventricle STIC Spatio-temporal image correlation SVC Superior caval vein T Trachea TAPVC Total anomalous pulmonary venous connection TGA Transposition of the great arteries TR Tricuspid regurgitation ToF Tetralogy of Fallot TV Tricuspid valve V Ventricle VSD Ventricular septal defect