Prenatal testing for late-onset neurogenetic diseases / edited by G. Evers-Kiebooms, M.W. Zoeteweij, P.S. Harper.

Format:

Book

Contributor:

Evers-Kiebooms, G.

Zoeteweij, M. W. (Moniek W.)

Harper, Peter S.

Language:

English

Subjects (All):

Neurogenetics--Congresses.

Neurogenetics.

Fetus--Diseases--Diagnosis--Congresses.

Fetus.

Prenatal diagnosis--Congresses.

Prenatal diagnosis.

Huntington's disease--Congresses.

Huntington's disease.

Fetal Diseases.

Fetus--Diseases--Diagnosis.

Nervous System--embryology.

Prenatal Diagnosis.

Huntington Disease.

Medical Subjects:

Fetal Diseases.

Nervous System--embryology.

Prenatal Diagnosis.

Huntington Disease.

Genre:

Conference papers and proceedings.

Physical Description:

xii, 219 pages : illustrations ; 25 cm

Place of Publication:

Oxford : BIOS Scientific ; New York : Distributed exclusively in the U.S. by Springer-Verlag, 2002.

Summary:

This book addresses the biological, moral and legal issues, which arise in prenatal testing of late-onset neurogenetic diseases. The contributors focus specifically on Huntington's Disease, which is used as a model for other late-onset neurogenetic diseases. Case histories are given, and ethical and legal aspects of prenatal testing and preimplantation genetic diagnosis are discussed. This book will provide valuable insights for all those involved in dealing with these challenging issues.

Contents:

1. Introduction: complexity of predictive and prenatal testing for neurogenetic late-onset diseases / G. Evers-Kiebooms 1

Some introductory remarks about predictive and prenatal testing for late-onset neurogenetic disease 1

Predictive testing for Huntington's disease: the elaboration of careful protocols and the need for a multidisciplinary approach 3

Uptake for predictive testing and prenatal testing for Huntington's disease 4

The scope of this book 6

2. Case histories of prenatal testing for Huntington's disease / G. Jacopini, M. Decruyenaere, R. Harper, S.A. Simpson 11

Prenatal genetic testing for Huntington's disease: a particular aspect of mother-child relationship 12

Mrs O 12

Prenatal genetic testing for Huntington's disease and the technological imperative: a case presentation 15

Mrs K 15

An example of a prenatal request for Huntington's disease masking underlying marital conflict 19

Miss A 19

Two women at risk of Huntington's disease: two families with different decisions 21

Mrs AB 21

Mrs CD 22

3. An overview of prenatal testing for Huntington's disease in six European countries / M.W. Zoeteweij, K. Nys, P.S. Harper, S.A. Simpson, A. Durr, G. Jacopini, C. Yapijakis, G. Evers-Kiebooms 25

Prenatal diagnosis as a reproductive choice of Huntington's disease family members 27

Study methods 29

Results 30

Sociodemographic characteristics of the prospective parents 30

Genetic characteristics of prospective parents and type of prenatal test 32

Repeated prenatal testing 35

4. Reproductive history after predictive testing for Huntington's disease: a European collaborative study / G. Evers-Kiebooms, K. Nys, P.S. Harper, M.W. Zoeteweij, A. Durr, G. Jacopini, C. Yapijakis, S.A. Simpson 45

The role of family planning as a reason for predictive testing and the intentions to use prenatal testing 46

A European collaborative study assessing the reproductive history after predictive testing for HD 49

Methodology 49

Results 51

5. Predictive and prenatal testing for Huntington's disease in Greece, Germany, Austria, Switzerland and Denmark / C. Yapijakis, F. Laccone, S.A. Sorenson 69

Greece 70

Presymptomatic and prenatal testing for Huntington's disease: the Greek experience 70

Prenatal testing for genetic disorders in Greece 71

Molecular prenatal testing in Greece: the paradigms of thalassaemia and Huntington's disease 72

Attitudes of Greek neurologists towards genetic testing for Huntington's disease 73

Future prospects 73

Germany, Austria and Switzerland 74

Brief history 74

Presymptomatic testing for Huntington's disease in Germany, Austria and Switzerland 74

Prenatal testing for Huntington's disease in Germany, Austria and Switzerland 76

Denmark 77

Predictive testing for Huntington's disease in Denmark 77

Prenatal testing for Huntington's disease in Denmark: a decade of data 77

Prenatal testing for Huntington's disease in Denmark: discussion 79

Prenatal testing for other late-onset neurogenetic disorders in Greece, Denmark, Germany, Austria and Switzerland 80

6. Legal aspects of prenatal testing for late-onset neurological diseases / H. Nys, C.M. Romeo Casabona, C. Desmet 83

Legal protection of the unborn child and termination of pregnancy 83

Legal protection of the unborn child in international law and its limits 84

Legal admissibility of termination of pregnancy in the case of a late-onset disease 85

Closing comments regarding the legal protection of the unborn child and termination of pregnancy 90

The rights of the parents and the child 91

The right to know and access to prenatal testing 91

The right to know versus the right not to know 95

Liability of the geneticist for wrongful birth and wrongful life 99

The causal connection 102

Prejudice to the child 103

7. Preimplantation genetic diagnosis for Huntington's disease / J.P.M. Geraedts, I. Liebaers 107

The preimplantation genetic diagnosis procedure 108

Experience with preimplantation genetic diagnosis 109

Availability of preimplantation genetic diagnosis 111

Preimplantation genetic diagnosis for Huntington's disease 112

Direct testing 112

Preimplantation genetic diagnosis exclusion testing 112

Non-disclosure preimplantation genetic diagnosis 113

Experience with preimplantation genetic diagnosis for Huntington's disease 114

Brussels 114

Maastricht 115

Other centres in Europe 116

The USA: Fairfax 116

8. Case histories about preimplantation genetic diagnosis / C. de Die, N. Heurckmans 119

Case histories 120

Case 1 120

Case 2 123

Case 3 125

9. Ethical aspects of prenatal testing and preimplantation genetic diagnosis for late-onset neurogenetic disease: the case of Huntington's disease / G. de Wert 129

Reproductive autonomy and the ideal of non-directive counselling 130

Prenatal testing for Huntington's disease 132

Some preliminary considerations 132

Various types of prenatal testing 134

Preimplantation genetic testing 142

Some preliminary considerations 142

Various types of preimplantation genetic testing 144

Prenatal diagnosis and preimplantation genetic diagnosis of other adult-onset diseases 151

From prenatal diagnosis to prenatal therapy? New tools, new dilemmas ... 153

10. Prenatal testing

dilemmas and problems facing Huntington's families. A lay perspective / S. Watkin, K. Varkevisser 159

Views and prenatal testing for Huntington's disease 160

Views on preimplantation genetic diagnosis 161

Pressures to test 164

Other issues 165

11. Predictive and prenatal testing for autosomal dominant cerebellar ataxias / A. Durr, J. Feingold 169

Clinical and molecular features of autosomal dominant cerebellar ataxias 170

Is there a demand for presymptomatic testing in autosomal dominant cerebellar ataxias 172

Outcome in 53 at-risk persons requesting presymptomatic testing 173

What are the motivations and reasons for requesting presymptomatic testing in autosomal dominant cerebellar ataxias 174

The consequences of presymptomatic testing in autosomal dominant cerebellar ataxias 175

Prenatal testing in autosomal dominant cerebellar ataxias 175

12. Counselling aspects of prenatal testing for late-onset neurogenetic diseases / D. Craufurd 179

Uptake of prenatal testing 180

Direct mutational analysis 182

Prenatal exclusion testing 183

Implications for existing children 185

Sex of the at-risk patient 186

Genetic counselling 186

13. Predictive and prenatal testing for late-onset neurogenetic diseases in North America / M.A. Nance 191

Uptake of predictive and prenatal testing for Huntington's disease and ataxia 191

Issues in predictive and prenatal testing 193

Issues in the diagnostic laboratory 193

Predictive testing of children 194

Anonymous testing 195

Prenatal testing 196

Predictive testing by non-specialists 196

Insurance problems 197

Other counselling issues 197

The contribution of predictive testing populations to research 198

14. Conclusion: prenatal testing for late-onset genetic disorders: evidence and insights from Huntington's disease / P.S. Harper 203

The evidence 205

The personal perspective: individual case histories 207

The legal, ethical and social framework 208

Prenatal testing for late-onset disorders in clinical practice 209

Huntington's disease as a model for other late-onset genetic disorders 210

The future 211.

Notes:

"This book arose from a European collaborative study and from a European BIOMED meeting held in Leuven, Belgium, in November 2000"-Pref.

Includes bibliographical references and index.

ISBN:

1859960197

OCLC:

50055118