Genetic Disorders and the Fetus. Группа авторов

      For their love, support, and understanding

       “Make assurance double sure.”

       Shakespeare, Macbeth

Genetic Disorders and the Fetus

      Diagnosis, Prevention, and Treatment

      EIGHTH EDITION

      EDITED BY

       Aubrey Milunsky, mb bch, dsc, frcp, facmg, dch

      Professor of Obstetrics and Gynecology

      Tufts University School of Medicine

      Formerly Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology

      Boston University School of Medicine

      Founder and Co-Director, Center for Human Genetics

      Cambridge, MA, USA

       Jeff M. Milunsky, md, facmg

      Professor of Obstetrics and Gynecology

      Tufts University School of Medicine

      Formerly Professor of Genetics and Genomics, and Pediatrics

      Boston University School of Medicine

      Co-Director, Center for Human Genetics

      Director, Clinical and Molecular Genetics

      Cambridge, MA, USA

This eighth edition first published 2021 © 2021 Aubrey Milunsky and Jeff M. Milunsky

      Edition History Previous editions: © 2016, 2010 Aubrey Milunsky and Jeff M. Milunsky; © 2004, 1998, 1992, 1986, 1979 Aubrey Milunsky

      All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by law. Advice on how to obtain permission to reuse material from this title is available at http://www.wiley.com/go/permissions.

      The right of Aubrey Milunsky and Jeff M. Milunsky to be identified as the authors of the editorial material in this work has been asserted in accordance with law.

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       Library of Congress Cataloging-in-Publication Data

      Names: Milunsky, Aubrey, editor. | Milunsky, Jeff M., editor.

      Title: Genetic disorders and the fetus : diagnosis, prevention, and

       treatment / edited by Aubrey Milunsky, MB BCh, DSc, FRCP, FACMG, DCH

       and Jeff M. Milunsky, MD, FACMG.

      Description: Eighth edition. | Hoboken, NJ : Wiley-Blackwell, 2021.

      Identifiers: LCCN 2021058739 (print) | LCCN 2021058740 (ebook) | ISBN

       9781119676935 (hardback) | ISBN 9781119676973 (adobe pdf) | ISBN

       9781119676959 (epub)

      Subjects: LCSH: Prenatal diagnosis. | Fetus–Diseases–Genetic aspects. |

       Fetus–Abnormalities–Genetic aspects.

      Classification: LCC RG628 .G46 2021 (print) | LCC RG628 (ebook) | DDC

       618.3/2075–dc23

      LC record available at https://lccn.loc.gov/2021058739

      LC ebook record available at https://lccn.loc.gov/2021058740

      Cover Design: Wiley

      Cover Image: © (Left column): Rasi Bhadramani/iStock/Getty Images.

      (Top row)(left) Roland Axt-Fliedner and Aline Wolter; (center) Liesbeth van Leeuwen,

       Malou A. Lugthart, and Eva Pajkrt; (right) Liesbeth van Leeuwen, Malou A. Lugthart, and

       Eva Pajkrt. (Middle row)(left) Nadine Girard and Kathia Chaumoitre; (center) Nadine Girard

       and Kathia Chaumoitre; (right) Michael A. Belfort and Alireza A. Shamshirsaz.

       (Bottom row)(left) Anver Kuliev and Svetlana Rechitsky.

Preface

      Certainty and trust are the hallmarks of prenatal diagnosis where doubt and ambiguity are outlaws. At no time was that more apparent than when AM made his first prenatal genetic diagnosis over 50 years ago. “Are you sure?” were that patient's first words, intoned with deep anxiety. Those words underscored the still cogent need for accuracy in prenatal diagnosis, where mostly a single report would be final. That was a time when prenatal diagnosis depended on amniocentesis‐based study, yielding an accuracy rate exceeding 99 percent. Few laboratory tests, then or now, concerned with profoundly important decision‐making equal this enviable accuracy. Variants of uncertain significance had not yet entered the genetic lexicon.

      Today, however, with the newer, beguiling, noninvasive technology, amniocentesis and chorionic villus sampling (CVS) use has declined dramatically. On the altars of convenience and expediency,