The Embryo: Normal and Abnormal Development and Growth

265 Pages·1991·7.41 MB·English

by  P. Braude

Michael Chapman . Gedis Grudzinskas
Tim Chard (Eds.)
THE EMBRYO
Normal and Abnormal Development and Growth
With 91 Figures
Springer-Verlag
London Berlin Heidelberg New York
Paris Tokyo Hong Kong
M.G. Chapman, MBBS, MRCOG
Department of Obstetrics and Gynaecology,
Guy's Hospital,
London SE1 9RT, UK
J.G. Grudzinskas, MD, MRCOG, FRACOG
Academic Unit of Obstetrics and Gynaecology,
The London Hospital, Whitechapel,
London E1 lEB, UK
T. Chard, MD, FRCOG
Academic Unit of Reproductive Physiology,
St Bartholomew's Hospital Medical College,
London EC1A 7BE, UK
ISBN-13: 978-1-4471-1804-6 e-ISBN-13:978-1-4471-1802-2
DOl: 10.1007/978-1-4471-1802-2
British Library Cataloguing in Publication Data
The Embryo.
1. Man. Embryos
I. Chapman, Michael 1949-
612.64
ISBN-13:978-1-4471-1804-6 W. Gennany
Library of Congress Cataloging-in-Publication Data
The Embryo: normal and abnormal development and growthlMichael Chapman ...
(eds. )
p. cm. Includes index.
ISBN-13: 978-1-4471-1804-6
1. Prenatal diagnosis. 2. Human embryo. I. Chapman, Michael, 1949-
[DNLM: 1. Fetal Development. 2. Fetal Diseases-diagnosis. WQ 211 E53]
RG628.E45 1990
618.3'2075 -dc20
DNLMlDLC
for Library of Congress
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© Springer-Verlag London Limited 1991
Softeover reprint of the hardcover 1st edition 1991
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Preface
Recent years have seen the introduction of a variety of new
techniques which promise to revolutionize the clinical management
of early pregnancy, particularly with respect to the diagnosis and
possible avoidance of congenital abnormalities. The present book
brings together papers from a number of leading international
research workers in this field.
The techniques of assisted reproduction have made available,
for the first time, living embryonic material which can be used both
for research and clinical management. For example, study of the
early embryo in the test-tube has provided new information which
reflects on the problem of early pregnancy loss as a potential cause
of infertility. Of even greater potential importance is the fact that
the embryo is now available for diagnosis. Single cells can be
removed without affecting the viability of the remainder. These
cells can be subjected to the sophisticated techniques of molecular
biology, and allow selection of embryos prior to replacement in
the uterus.
Another area of advance is in the diagnosis of major congenital
abnormalities in late first trimester and midtrimester. Chorion villus
biopsy provides fetal tissue for diagnosis at a much earlier stage
than that which has hitherto been possible with amniocentesis.
Ultrasound imaging permits the identification of congenital
malformations in utero with an accuracy almost equivalent to that
which can be achieved in the neonate. A spectrum of simple
biochemical tests performed on maternal blood can greatly enhance
the ascertainment of Down's syndrome and other chromosome
defects.
All of these techniques were devised during the 1980s and many
will come into routine clinical use in the 1990s. This book provides
a full description of the state-of-the-art in this exciting and fast
moving topic.
London Michael Chapman
1990 Gedis Grudzinskas
Tim Chard
Contents
1 Mechanisms of Early Embryonic Loss In Vivo
and In Vitro
Po Braude, Mo Johnson, So Pickering and C. Vincent 1
2 Aetiology of Pregnancy Failnre
Jo L. Simpson 11
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
3 Anembryonic Pregnancy
l. Stabile 35
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
4 Embryonic Loss: Clinical Perspectives
JoLo Yovich 45
000000000000000000000000000000000000000000
5 Embryo Biopsy
V. No Bolton 63
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
6 Preimplantation Diagnosis by DNA Amplification
A. H. Handyside 81
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
7 Transabdominal Chorion Villus Biopsy Versus
Amniocentesis for Diagnosis of Aneuploidy: Safety Is
Not Enough
R.J. Lilford, H. Irving, JoK. Gupta, Po O'Donovan
and Go Linton 91
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
8 The Role of Echography in the Diagnosis of Fetal
Chromosomal Defects
K. H. Nicolaides, R. Jo Mo Snijders and C. Mo Gosden 101
9 Embryoscopy: An Evolving Technology for
Early Prenatal Diagnosis
Eo A. Reece and Jo C. Hobbins 123
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
10 Sexing the Pre-embryo
Jo Do West 141
0 000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
11 Embryonic Development: The Origin of Neural
Tube Defects
A. Jo Copp 165
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
viii Contents
12 Ultrasound and Biochemical Assessment of
First Trimester Pregnancy
B. Brambati, A. Lanzani and L. Tului ................ 181
13 Endocrinology and Metabolism in Early Pregnancy
1. G. Grudzinskas and T. Chard ...................... 195
14 The Endocrinology of the Fetoplacental Unit in the
Second Trimester of Pregnancy
T. Chard and 1. D. Grudzinskas ...................... 209
15 Endometrial Proteins
R. Koistinen, M. lulkunen, L. Riittinen, A.M. Suikkari
and M. Seppala ..................................... 227
16 Maternal Serum AFP Screening for Fetal
Malformations and Down's Syndrome
B. Norgaard-Pedersen. . . . . . . . . . .. . . .. . . .. . ... . . .. . . .. 241
17 Biochemical Screening for Down's Syndrome
N. Wald and H. Cuckle .............................. 251
Subject Index ....................................... 259
Contributors
V.N. Bolton, MA, PhD
Assisted Conception Unit, Department of Obstetrics and
Gynaecology, King's College Hospital, London, UK
B. Brambati, MD
First Institute of Obstetrics and Gynaecology, Perinatal Unit,
University of Milan, Milan, Italy
P. Braude, BSc, MB, PhD, MRCOG
Embryo and Gamete Research Group, Department of Obstetrics
and Gynaecology, University of Cambridge, UK
T. Chard, MD, FRCOG
Academic Unit of Reproductive Physiology, St Bartholomew's
Hospital Medical College, London, UK
A.J. Copp, MBBS, MA, DPhil
Imperial Cancer Research Fund, Developmental Biology Unit,
Department of Zoology, University of Oxford, Oxford, UK
H. Cuckle, BA, MSc, DPhil
Department of Environmental and Preventive Medicine, The
Medical College of St Bartholomew's Hospital, London, UK
C.M. Gosden, FRCPath
Medical Research Council, Western General Hospital, Edinburgh,
UK
J.G. Grudzinskas, MD, MRCOG, FRACOG
Academic Unit of Obstetrics and Gynaecology, The London
Hospital, London, UK
J.K. Gupta, MBChB
Department of Obstetrics and Gynaecology, St James' University
Hospital, Leeds, UK
A. Handyside, MA, PhD
Royal Postgraduate Medical School, Institute of Obstetrics and
Gynaecology, Hammersmith Hospital, London, UK
x Contributors
J.C. Hobbins, MD
Division of Maternal-Fetal Medicine, Department of Obstetrics
and Gynecology, Yale University School of Medicine. New Haven.
Connecticut, USA
H. Irving, DMRD, FRCR
Department of Radiology. St James' University Hospital, Leeds,
UK
M. Johnson, MA, PhD
Embryo and Gamete Research Group, Department of Obstetrics
and Gynaecology, and Anatomy, University of Cambridge, UK
M. Julkunen, MD
Department of Obstetrics and Gynaecology, Helsinki University
Central Hospital, Helsinki, Finland
R. Koistinen, PhD
Department of Obstetrics and Gynaecology, Helsinki University
Central Hospital, Helsinki, Finland
A. Lanzani, MD
First Institute of Obstetrics and Gynaecology, Perinatal Unit,
University of Milan, Milan, Italy
R.J. Lilford, PhD, MRCOG, MRCP
Department of Obstetrics and Gynaecology, St James' University
Hospital, Leeds, UK
G. Linton, MLSO
Department of Obstetrics and Gynaecology, St James' University
Hospital, Leeds, UK
K.H. Nicolaides, BSc, MRCOG
Harris Birthright Research Centre for Fetal Medicine, King's
College School of Medicine and Dentistry, London, UK
B. Norgaard-Pedersen, MSc
Hormone Department, Statens Seruminstitut, Copenhagen,
Denmark
P. O'Donovan, MRCOG
Department of Obstetrics and Gynaecology, St James' University
Hospital, Leeds, UK
S. Pickering, BSc
Embryo and Gamete Research Group, Department of Obstetrics
and Gynaecology, University of Cambridge, UK
Contributors xi
E.A. Reece, MD
Division of Maternal-Fetal Medicine, Department of Obstetrics
and Gynecology, Yale University School of Medicine, New
Haven, Connecticut, USA
L. Riittinen, MSc
Department of Obstetrics and Gynaecology, Helsinki University
Central Hospital, Helsinki, Finland
M. Seppala, MD, FRCOG
Department of Obstetrics and Gynaecology, Helsinki University
Central Hospital, Helsinki, Finland
J.L. Simpson, MD
Department of Obstetrics and Gynecology, University of
Tennessee, Memphis, Tennessee, USA
R.J .M. Snijders, BSc
Harris Birthright Research Centre for Fetal Medicine, King's
College School of Medicine and Dentistry, London, UK
1. Stabile, MRCOG, PhD
Center for Environmental Toxicology, University of Florida,
Gainesville, Florida, USA
A.M. Suikkari, MD
Department of Obstetrics and Gynaecology, Helsinki University
Central Hospital, Helsinki, Finland
L. Tului, PhD
Italian Association for the Study of Malformations (A.S.M.),
Milan, Italy
C. Vincent, PhD
Embryo and Gamete Research Group, Department of Obstetrics
and Gynaecology, University of Cambridge, UK
N. Wald, DSc (Med), FRCP, FFCM
Department of Environmental and Preventive Medicine, The
Medical College of St Bartholomew's Hospital, London, UK
J.D. West, BSc, PhD
Department of Obstetrics and Gynaecology, University of
Edinburgh, Centre for Reproductive Biology, Edinburgh, UK
J.L. Yovich, MBBS, MD, FRCOG, FRACOG, MAIBiol
Pivet Medical Centre and Department of Obstetrics and
Gynaecology, University of Western Australia, Perth, Western
Australia, Australia
1. Mechanisms of Early Embryonic loss In Vivo
and In Vitro
P. Braude, M. Johnson, S. Pickering and C. Vincent
Introduction
Much of our knowledge about the earliest stages of human development derives
from observations on oocytes and preimplantation embryos in vitro during
gamete intrafallopian transfer (GIFT) and in vitro fertilization (IVF) procedures
(Edwards 1984; Edwards et al. 1981). Although patients' expectations of
pregnancy following these newer methods of assisted conception are high, overall
success rates in terms of live births per attempted cycle are low (10% per
treatment cycle) (VLA 1989; Wagner and St Clair 1989). Even when pregnancies
are established, many fail within the first few weeks after diagnosis. However,
it is often forgotten that major losses occur also in spontaneous cycles (Vessey
et al. 1978). In this chapter we compare losses for natural cycles with those in
assisted conception cycles and examine mechanisms which may explain some of
these failures.
Outcome of Spontaneous Ovulatory Cycles
Although cumulative conception tables suggest a clinical pregnancy rate of
between 12% and 20% per cycle (Cooke et al. 1981), between 12% and 16%
of these pregnancies are likely to end in overt spontaneous abortion (Huisjes
1984). However, these estimates of the incidence of spontaneous abortion are
average figures, obtained largely from retrospective studies of hospital-based
populations where early losses in particular may be missed. Thus they may not
be a true reflection of the incidence of spontaneous loss in the population. More
recently a prospective study has suggested that the incidence of spontaneous
abortion depends to some extent on previous pregnancy outcome. Thus
spontaneous loss seems to be lower in primigravidae (about 5%) and those who