An Introduction to Genetics and Fetal Medicine Deepika Deka, Narendra Malhotra
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1An Introduction to Genetics and Fetal Medicine
3An Introduction to Genetics and Fetal Medicine
2nd Edition
Editors Deepika Deka MD FICOG FIMSA FICMCH Chairman, Fetal Medicine and Genetics Committee (FOGSI) Professor, Department of Obstetrics and Gynecology All India Institute of Medical Sciences Ansari Nagar, New Delhi, India dpk.deka@gmail.com Narendra Malhotra MD FICOG FICMCH President, FOGSI 2008 Dean, ICMU 2008–2009 Director, Ian Donald School of Ultrasound Consultant and Director Malhotra Nursing and Maternity Home (P) Ltd, Agra, Uttar Pradesh, India Apollo Pankaj Hospital (P) Ltd, Agra, Uttar Pradesh, India mnmhagra3@gmail.com www.malhotrahospital.com Foreword Kamini A Rao
A FOGSI Publication
4
Published by
Jitendar P Vij
Jaypee Brothers Medical Publishers (P) Ltd
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An Introduction to Genetics and Fetal Medicine
© 2010, Jaypee Brothers Medical Publishers
All rights reserved. No part of this publication should be reproduced, stored in a retrieval system, or transmitted in any form or by any means: electronic, mechanical, photocopying, recording, or otherwise, without the prior written permission of the editors and the publisher.
First Edition: 1996
Second Edition: 2010
9788184489606
Typeset at JPBMP typesetting unit
Printed at
5Contributors 7Foreword
One is astonished by how far we have come in the 50 odd years since Watson and Crick first announced the structure of DNA. No one then imagined how rapidly genetic technology would emerge as a budding science and as a science of the future. The completion of the Human Genome Project, disclosing the DNA sequences of all the 100,000 human genes has ensured that the age of genetic technology has arrived.
Over the past decade, diagnostic skills with fetal disease have improved enormously, but therapeutic approaches remain limited. However, the most significant advance is that most professionals and would be parents consider the fetus as a separate individual and a potential patient in his or her own right.
This book is designed to offer comprehensive knowledge of genetics and fetal medicine to practicing physicians. It focuses on the diagnosis and treatment of fetal disease, covers all aspects of prenatal diagnosis and also touches on the topic of preimplantation genetic diagnosis. The first edition of the book was released by me over 15 years back; and during this interval, the field of Genetics and Fetal Medicine has advanced in leaps and bounds. This second edition of the book by Dr Deepika Deka, Chairman, Fetal Medicine and Genetics Committee, FOGSI, who is an expert in the field, and Dr Narendra Malhotra, Ex-President FOGSI during whose tenure the book was conceived; contains the familiar topics which have been suitably updated with the inclusion of entirely new information. An effort has been made to include as many tables, algorithms, pictures, related photographs of the cases along with the radiographic and other diagnostic images as possible. This well illustrated and timely publication provides concise yet comprehensive practical information on the all aspects of Genetics and Fetal Medicine and at the same time attempts to bring the latest advances in laboratory techniques within reach of the practicing specialists and technicians. The contributing authors include internationally renowned clinicians and scientists who are actively involved in the field and hence the book provides comprehensive practical information on the modern-day approach to dealing with genetic disorders and fetal disease. Here is hoping this book makes a difference to your clinical practice.
Kamini A Rao
Medical Director
Bangalore Assisted Conception Center (P) Ltd
Bengaluru, Karnataka, India
9Preface to the Second Edition
Every couple dreams of a normal baby, who will grow into an intelligent and healthy child. The dream is sometimes shattered when the baby is born with a lethal or major non-lethal congenital malformation (requiring neonatal surgery, with an often poor prognosis; such as heart disease, diaphragmatic hernia, renal agenesis) or a major debilitating genetic disease (thalassemia major, Down's syndrome) or there is neonatal/fetal death due to growth restriction, Rh-isoimmunization and intrauterine infections.
Every obstetrician needs to have basic knowledge of common genetic diseases and identify the high-risk fetus by screening every pregnancy—obstetric low- or high-risk. It is important to realize that 70–80% fetal abnormalities occur in low-risk women.
This book will introduce obstetricians to the state-of-the-art Fetal management of low- and high-risk pregnancies. Basics of genetic screening protocol is discussed. The objective is to update general obstetricians and practitioners of the advances in the field of Prenatal Diagnosis and Therapy, so that every baby is born in the best of mental and physical health.
This book will be very useful as a ready-reference to be kept at the clinic table while practicing antenatal care.
Deepika Deka
Narendra Malhotra
11Preface to the First Edition
The last two decades have witnessed an extremely rapid growth of information in the field of prenatal diagnosis and therapy. In fact the whole scenario has been changing so rapidly that it has become increasingly impossible for practising obstetricians to keep abreast of the latest developments. Just about a decade ago, genetics formed a part of medicine. However, we have now reached a stage, where medicine can be considered to be a part of genetics. By the turn of the century, when the human genome project will be completed, the volume of knowledge gained through will revolutionize genetics and fetal medicine.
This book aims to cover the theoretical and practical aspects of the problems in prenatal diagnosis, and to update clinicians with the latest techniques in the field and the various management options available. Though the book is directed primarily at the practising obstetrician, the information contained may also be of value to those involved in other aspects of genetic counseling and prenatal therapy.
With a view to broadening out knowledge base and providing practising physicians with a ready-reckoner, I set out to motivate recognized authorities both on the national and international front, as well as some young promising specialists to contribute essays on current technologies and future applications of therapies in the field of fetal medicine.
These chapters are neither intended nor should be regarded as the last word on the subject. In fact, an entire section is devoted to the future options and new treatment modalities, not all of which are presently developed to the point of clinical application. I am aware that certain issues in this book are of a controversial nature. For comprehensiveness, each issue has been touched upon but the ideas expressed should be treated as the views of the respective author (s) and not necessarily those of the editors.
In the final anlaysis, it is the affected fetus and its parents, who are the ultimate beneficiaries of this book. I hope that this concerned effort by all those involved will go a long way in helping them.
Kamini A Rao
13Acknowledgments
To write a book on An Introduction to Genetics and Fetal Medicine is a herculean task, to re-edit the existing book into seen edition is even more difficult a task.
Fetal Medicine and Genetics have evolved in a specialty of its own.
We have no words to thank the contributors for the excellently written and illustrated chapters.
Thank you family for bearing with us once again in winters, pre-AICOG times when all deadlines have to be met.
We are thankful to Shri Jitendar P Vij (Chairman and Managing Director) and team of Jaypee Brothers Medical Publishers (P) Ltd for their efforts towards medical education.