Antenatal Diagnosis of Fetal Abnormalities

352 Pages·1991·8.151 MB·English

by  N. C. Nevin (auth.), James O. Drife MD, FRCSEd, FRCOG, Dian Donnai MBBS, FRCP, DCH, DObst, RCOG (eds.)

Since 1973 the Royal College of
Obstetricians and Gynaecologists has
regularly convened Study Groups to
address important growth areas within
obstetrics and gynaecology. An
international group of eminent scientists
and clinicians from various disciplines is
invited to present the results of recent
research and take part in in-depth
discussion. The resulting volume
containing the papers presented and also
edited transcripts of the discussions is
published within a few months of the
meeting and provides a summary of the
subject that is both authoritative and up
to date.
Previous Study Group publications
available from Springer-Verlag:
Early Pregnancy Loss
Edited by R. W. Beard and F. Sharp
AIDS in Obstetrics and Gynaecology
Edited by C. N. Hudson and F. Sharp
Fetal Growth
Edited by F. Sharp, R. B. Fraser and
R. D. G. Milner
Micturition
Edited by J. O. Drife, P. Hilton and
S. L. Stanton
HRT and Osteoporosis
Edited by J. O. Drife and J. W. W. Studd
The Royal College of Obstetricians and
Gynaecologists gratefully acknowledges
the sponsorship of this Study Group by
the Department of Health.
Antenatal Diagnosis of
Fetal Abnormalities
Edited by
J. O. Drife and D. Donnai
With 44 Figures
Springer-Verlag
London Berlin Heidelberg N ew York
Paris Tokyo Hong Kong
Barcelona Budapest
James O. Drife, MD, FRCSEd, FRCOG
Professor of Obstetrics and Gynaecology, Clarendon Wing, Leeds
General Infirmary, Leeds LS2 9NS, UK
Dian Donnai, MBBS, FRCP, DCH, DObst RCOG
Consultant Clinical Geneticist, Department of Medical Genetics,
St Mary's Hospital, Whitworth Park, Manchester M13 OJH, UK
British Library Cataloguing in Publication Data
Antenatal diagnosis of fetal abnormalities.
1. Humans. Foetuses. Diagnosis
I. Drife, J. o. (James Owen) 1947- II. Donnai, D. (Dian) 1945-
618.32075
Library of Congress Cataloguing-in-Publication Data
Antenatal diagnosis of fetal abnormalities/edited by J. O. Drife and D. Donnai.
p. cm. Includes index. Report of a study group called by the Royal College of
Obstetricians and Gynaecologists.
ISBN-13: 978-1-4471-1856-5 e-ISBN-13: 978-1-4471-1854-1
DOl: 10.1007/978-1-4471-1854-1
1. Prenatal diagnosis. 2. Fetus-Abnormalities-Diagnosis.
3. Genetic counseling. I. Drife, James 0.,1947- . II. Donnai, D. (Dian), 1945-
III. Royal College of Obstetricians and Gynaecologists (Great Britain)
[DNLM: 1. Abnormalities--diagnosis--congresses. 2. Fetal
Diseases--diagnosis--congresses. 3. Genetic Counseling--congresses.
4. Prenatal Diagnosis--congresses. WQ 209 A6258 1991]
RG628.A555 1991 618.3'2042--dc20
DNLMlDLC
for Library of Congress 91-4698
CIP
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Preface
In few areas of medicine is progress more spectacular than in the
field of prenatal diagnosis. New clinical techniques such as chorion
villus sampling, detailed ultrasound scanning and cordocentesis are
being evaluated by obstetricians, and refinement of biochemical
testing is widening the scope of maternal serum screening. In the
laboratory, dramatic advances in molecular biology are occurring:
families at risk of genetic disease can be investigated with gene
probes, and preimplantation diagnosis of the embryo is now becom
ing a reality.
These technical advances have important ethical and practical
implications, among which will be a further increase in public
expectations of the standards required of antenatal services. Clini
cians will need a high degree of skill to inform healthy women about
the options for screening normal pregnancies, and to counsel high-risk
women about the benefits and limitations of prenatal diagnosis.
Obstetricians, scientists and health service managers will face the
difficult task of deciding how prenatal diagnosis can be made available
to women in a caring and cost-effective way.
Recognising the rapid progress in this field, the Royal College of
Obstetricians and Gynaecologists made prenatal diagnosis the subject
of its 23rd Study Group. An international panel of leading
researchers, whose expertise ranged from molecular biology to
philosophy, was invited to participate in a three day workshop, with
time for in-depth discussion as well as the presentation of papers.
Sessions covered the epidemiology of fetal abnormality, routine
screening, special diagnostic techniques, DNA and biochemical
analysis, psychological and ethical considerations, and the economic
and practical aspects of service provision. The result is an authorita
tive, comprehensive and up-to-date review of this important
subject.
The rapid publication of the proceedings of the Study Group would
not have been possible without the efficiency and charm of Miss Sally
Barber, Postgraduate Secretary of the RCOG. The Editors wish to
thank her for her skilful co-ordination of this project. We also wish to
express our warm thanks to the participants who willingly gave up
vi Preface
their time for this meeting and who communicated their considerable
expertise so effectively. The group put much effort into the form
ulation of constructive recommendations, which conclude this
volume. We hope that these will be of benefit to obstetricians and
others working in this field, and to our patients.
December 1990 J. O. Drife
D. Donnai
Contents
Preface ........................................................................ v
Participants .................................................................. xi
SECTION I - EPIDEMIOLOGY AND ROUTINE SCREENING
1 Trends in Prevalence of Congenital Abnormalities
N. C. Nevin ................................................................. 3
2 The Northern Regional Fetal Abnormality Survey
A. F. J. Atkins and E. N. Hey.......................................... 13
Discussion ................................................................... 30
3 Routine Fetal Anomaly Screening
M. J. Whittle ................................................................ 35
4 Some Practical Issues in the Antenatal Detection of Neural
Tube Defects and Down's Syndrome
N. Wald and H. Cuckle .................................................. 45
Discussion ................................................................... 54
5 Heterozygote Screening for Cystic Fibrosis
D. J. H. Brock, M. E. Mennie, 1. McIntosh, C. Jones and
A. E. Shrimpton ........................................................... 59
Discussion ................................................................... 67
SECTION II - SPECIAL TECHNIQUES: 1
6 Chorion Villus Sampling: The MRC European Trial
T. W. Meade ................................................................ 73
viii Contents
7 Invasive Diagnostic Procedures in the First Trimester
R. J. Lilford ................................................................. 79
Discussion ................................................................... 91
8 Cardiac Ultrasound Scanning
L. D. Allan .................................................................. 97
9 Doppler Ultrasound Studies and Fetal Abnormality
B. J. Trudinger ............................................................. 113
Discussion ................................................................... 122
SECTION III - DNA ANALYSIS
10 Overview of Linkage and Probes
M. E. Pembrey ............................................................. 129
Discussion ................................................................... 135
11 Diagnosis of Genetic Defects in Eggs and Embryos
M. Monk ..................................................................... 137
Discussion ................................................................... 148
SECTION IV - CYTOGENETIC AND BIOCHEMICAL
DISORDERS
12 Fetal Karyotyping Using Chorionic Villus Samples
C. M. Gosden ............................................................... 153
13 Prenatal Diagnosis of the Fragile-X Syndrome
T. Webb ...................................................................... 169
Discussion ................................................................... 179
14 Advances in Diagnosis of Biochemical Disorders
H. Galjaard .................................................................. 183
Discussion ................................................................... 197
SECTION V - SPECIAL TECHNIQUES: 2
15 Cordocentesis
K. H. Nicolaides ........................................................... 201
16 Intrauterine Therapy
C. H. Rodeck and N. M. Fisk .......................................... 217
Contents ix
17 Magnetic Resonance Imaging (MRI) Scanning
1. R. Johnson ............................................................... 229
Discussion ................................................................... 238
SECTION VI - COUNSELLING, ECONOMICS AND
ETHICAL ISSUES
18 Psychological Implications of Prenatal Diagnosis
T. M. Marteau .............................................................. 243
19 Counselling after Prenatal Diagnosis
D. Donnai and L. Kerzin-Storrar ...................................... 255
Discussion ................................................................... 265
20 Economic Aspects of Prenatal Diagnosis
J. B. Henderson ............................................................ 269
21 Ethical Aspects of Prenatal Diagnosis
J. Harris ...................................................................... 279
Discussion ................................................................... 289
SECTION VII - SERVICE PROVISION
22 Organisation of Genetic Services in the Netherlands
H. Galjaard .................................................................. 297
23 Genetic Services
R. Harris ..................................................................... 311
24 National Coordination of Molecular Genetic Services
A. P. Read ................................................................... 321
Discussion ................................................................... 329
25 Provision of Service: The Obstetrician's View
R. H. T. Ward .............................................................. 335
Discussion ................................................................... 348
Conclusions and Recommendations .................................... 353
Subject Index ................................................................ 357
Participants
Dr L. D. Allan
Senior Lecturer, Department of Perinatal Cardiology, Guy's
Hospital, St Thomas Street, London SEI 9RT, UK
Mr A. F. J. Atkins
Consultant Obstetrician, Maternity Unit, South Cleveland Hospital,
Marton Road, Middlesborough, Cleveland TS4 3BW, UK
Professor D. J. H. Brock
Human Genetics Unit, University of Edinburgh, Western General
Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Professor S. Campbell
Department of Obstetrics & Gynaecology, King's College School of
Medicine & Dentistry, Denmark Hill, London SE5 9RS, UK
Dr D. Donnai
Consultant Clinical Geneticist, Department of Medical Genetics,
St Mary's Hospital, Whitworth Park, Manchester Ml3 OJH, UK
Professor J. O. Drife
Department of Obstetrics & Gynaecology, The University of Leeds,
Leeds General Infirmary, D Floor, Clarendon Wing, Belmont Grove,
Leeds LS2 9NS, UK
Professor Dr H. Galjaard
Professor of Cell Biology, Chairman, Department of Genetics,
University Hospital, Westreedijk 112, Rotterdam 3016 AH, The
Netherlands
Professor C. M. Gosden
MRC Human Genetics Unit, Western General Hospital, Crewe
Road, Edinburgh EH4 2XU, UK