Prenatal Testing for Late-onset Neurogenetic Diseases PDF
Preview Prenatal Testing for Late-onset Neurogenetic Diseases
Prenatal Testing for Late-Onset Neurogenetic Diseases Prenatal Testing for Late- Onset Neurogenetic Diseases Edited by G.Evers-Kiebooms Center for Human Genetics, University of Leuven, Belgium M.W.Zoeteweij Clinical Genetics Centre, Academic Hospital Leiden, The Netherlands P.S.Harper Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK © BIOS Scientific Publishers Limited, 2002 First published 2002 This edition published in the Taylor & Francis e-Library, 2005. “To purchase your own copy of this or any of Taylor & Francis or Routledge’s collection of thousands of eBooks please go to www.eBookstore.tandf.co.uk.” All rights reserved. No part of this book may be reproduced or transmitted, in any form or by any means, without permission A CIP catalogue record for this book is available from the British Library. ISBN 0-203-45029-9 Master e-book ISBN ISBN 0-203-45876-1 (Adobe eReader Format) ISBN 1 85996 019 7 (Print Edition) BIOS Scientific Publishers Ltd 9 Newtec Place, Magdalen Road, Oxford OX4 1RE, UK Tel. +44 (0)1865 726286. Fax +44 (0)1865 246823 World Wide Web home page: http://www.bios.co.uk/ Distributed exclusively in the United States, its dependent territories, Canada, Mexico, Central and South America, and the Carribean by Springer-Verlag New York Inc., 175 Fifth Avenue, New York, USA, by arrangement with BIOS Scientific Publishers Ltd., 9 Newtec Place, Magdalen Road, Oxford OX4 1RE, UK Production Editor: Andrea Bosher. Contents Abbreviations xi Contributors xii Preface xiv 1. Introduction: complexity of predictive and prenatal testing 1 for neurogenetic late-onset diseases G.Evers-Kiebooms Some introductory remarks about predictive and prenatal testing 1 for late-onset neurogenetic disease Predictive testing for Huntington’s disease: the elaboration of 3 careful protocols and the need for a multidisciplinary approach Uptake for predictive testing and prenatal testing for Huntington’s 4 disease The scope of this book 6 2. Case histories of prenatal testing for Huntington’s disease 10 G.Jacopini, M.Decruyenaere, R.Harper and S.A.Simpson Introduction 10 Prenatal genetic testing for Huntington’s disease: a particular 11 aspect of mother-child relationship Mrs O 11 Comments 13 Prenatal genetic testing for Huntington’s disease and the 14 technological imperative: a case presentation Mrs K 15 Comments 17 An example of a prenatal request for Huntington’s disease 19 masking underlying marital conflict v Miss A 19 Comments 20 Two women at risk of Huntington’s disease: two families with 20 different decisions Mrs AB 20 Comments 22 Mrs CD 22 Comments 23 Conclusions 23 3. An overview of prenatal testing for Huntington’s disease in 25 six European countries M.W.Zoeteweij, K.Nys, P.S.Harper, S.A.Simpson, A.Dürr, G.Jacopini, C.Yapijakis and G.Evers-Kiebooms Introduction 25 Prenatal diagnosis as a reproductive choice of Huntington’s 28 disease family members Study methods 29 Results 30 Sociodemographic characteristics of the prospective parents 30 Genetic characteristics of prospective parents and type of 32 prenatal test Repeated prenatal testing 35 Discussion 37 4. Reproductive history after predictive testing for 45 Huntington’s disease: a European collaborative study G.Evers-Kiebooms, K.Nys, P.S.Harper, M.W.Zoeteweij, A.Dürr, G.Jacopini, C.Yapijakis and S.A.Simpson Introduction 45 The role of family planning as a reason for predictive testing and 46 the intentions to use prenatal testing A European collaborative study assessing the reproductive history 49 after predictive testing for HD Introduction 49 vi Methodology 50 Results 51 Discussion 63 5. Predictive and prenatal testing for Huntington’s disease in 69 Greece, Germany, Austria, Switzerland and Denmark C.Yapijakis, F.Laccone and S.A.Sørenson Introduction 69 Greece 70 Presymptomatic and prenatal testing for Huntington’s disease: 70 the Greek experience Prenatal testing for genetic disorders in Greece 71 Molecular prenatal testing in Greece: the paradigms of 72 thalassaemia and Huntington’s disease Attitudes of Greek neurologists towards genetic testing for 73 Huntington’s disease Future prospects 74 Germany, Austria and Switzerland 74 Brief history 74 Presymptomatic testing for Huntington’s disease in Germany, 75 Austria and Switzerland Prenatal testing for Huntington’s disease in Germany, Austria 77 and Switzerland Denmark 78 Predictive testing for Huntington’s disease in Denmark 78 Prenatal testing for Huntington’s disease in Denmark: a decade 78 of data Prenatal testing for Huntington’s disease in Denmark: discussion 80 Prenatal testing for other late-onset neurogenetic disorders in 81 Greece, Denmark, Germany, Austria and Switzerland 6. Legal aspects of prenatal testing for late-onset neurological 84 diseases H.Nys, C.M.Romeo Casabona and C.Desmet Introduction 84 vii Legal protection of the unborn child and termination of pregnancy 84 Legal protection of the unborn child in international law and its 85 limits Legal admissibility of termination of pregnancy in the case of a 86 late-onset disease Closing comments regarding the legal protection of the unborn 92 child and termination of pregnancy The rights of the parents and the child 93 The right to know and access to prenatal testing 93 The right to know versus the right not to know 97 Liability of the geneticist for wrongful birth and wrongful life 101 The causal connection 104 Prejudice to the child 105 Concluding remarks 106 7. Preimplantation genetic diagnosis for Huntington’s disease 110 J.P.M.Geraedts and I.Liebaers Introduction 110 The preimplantation genetic diagnosis procedure 111 Experience with preimplantation genetic diagnosis 113 Availability of preimplantation genetic diagnosis 114 Preimplantation genetic diagnosis for Huntington’s disease 115 Direct testing 115 Preimplantation genetic diagnosis exclusion testing 116 Non-disclosure preimplantation genetic diagnosis 117 Experience with preimplantation genetic diagnosis for 117 Huntington’s disease Brussels 117 Maastricht 119 Other centres in Europe 120 The USA: Fairfax 120 Discussion 121 viii 8. Case histories about preimplantation genetic diagnosis 124 C.de Die and N.Heurckmans Introduction 124 Case histories 125 Case 1 125 Case 2 129 Case 3 130 Conclusion 131 9. Ethical aspects of prenatal testing and preimplantation 133 genetic diagnosis for late-onset neurogenetic disease: the case of Huntington’s disease G.de Wert Introduction 133 Reproductive autonomy and the ideal of non-directive counselling 133 Prenatal testing for Huntington’s disease 136 Some preliminary considerations 136 Various types of prenatal testing 138 Preimplantation genetic testing 146 Some preliminary considerations 147 Various types of preimplantation genetic testing 149 Prenatal diagnosis and preimplantation genetic diagnosis of other 156 adult-onset diseases From prenatal diagnosis to prenatal therapy? New tools, new 158 dilemmas… 10. Prenatal testing—dilemmas and problems facing 164 Huntington’s families. A lay perspective S.Watkin and K.Varkevisser Introduction 164 Views and prenatal testing for Huntington’s disease 165 Views on preimplantation genetic diagnosis 166 Pressures to test 169 Other issues 171 ix 11. Predictive and prenatal testing for autosomal dominant 173 cerebellar ataxias A.Dürr and J.Feingold Introduction 173 Clinical and molecular features of autosomal dominant cerebellar 174 ataxias Is there a demand for presymptomatic testing in autosomal 176 dominant cerebellar ataxias Outcome in 53 at-risk persons requesting presymptomatic 177 testing173 What are the motivations and reasons for requesting 178 presymptomatic testing in autosomal dominant cerebellar ataxias The consequences of presymptomatic testing in autosomal 179 dominant cerebellar ataxias Prenatal testing in autosomal dominant cerebellar ataxias 180 Conclusion 180 12. Counselling aspects of prenatal testing for late-onset 182 neurogenetic diseases D.Craufurd Introduction 182 Uptake of prenatal testing 183 Direct mutational analysis 186 Prenatal exclusion testing 187 Implications for existing children 189 Sex of the at-risk patient 189 Genetic counselling 190 Conclusion 192 13. Predictive and prenatal testing for late-onset neurogenetic 196 diseases in North America M.A.Nance Introduction 196 Uptake of predictive and prenatal testing for Huntington’s disease 196 and ataxia
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