Pathology of the Human Embryo and Previable Fetus: An Atlas

244 Pages·1990·11.94 MB·English

by  Dagmar K. Kalousek MD

Pathology of the Human Embryo
and Previable Fetus
D.K. Kalousek N. Fitch B.A. Paradice
Pathology of the
Human Embryo
and Previable Fetus
An Atlas
With 258 Illustrations in 361 Parts Including 17 Color Plates
Springer Science+Business Media, LLC
Dagmar K. Kalousek, MD, FRCPC, FCCMG
Professor, Department of Pathology, The University of British Columbia and BC
Children's Hospital, Vancouver, V6H 3V4, Canada
Naomi Fitch, MD, PhD
Visiting Assistant Professor, Department of Pathology, The University of British
Columbia, Lady Davis Institute, Sir Mortimer B. Davis Jewish General Hospital,
Montreal, H3T lE2, Canada
Barbara A. Paradice, ART
Laboratory Technologist, Embryopathology Unit, BC Children's Hospital, Vancouver,
V6H 3V4, Canada
Library of Congress Cataloging-in-Publication Data
Kalousek, Dagmar K.
Pathology of the human embryo and previable fetus: an atlas /
Dagmar K. Kalousek, Naomi Fitch, Barbara Paradice.
p. cm.
ISBN 978-1-4757-2113-3 ISBN 978-1-4757-2111-9 (eBook)
DOI 10.1007/978-1-4757-2111-9
1. Fetus-Abnormalities. 2. Human embryo-Abnormalities.
3. Fetus-Examination. 4. Placenta-Examination. 1. Fitch, Naomi.
II. Paradice, Barbara. III. Title.
[DNLM: 1. Fetus-pathology-atlases. 2. Placenta-pathology
atlases. 3. Pregnancy Complications-pathology-atlases. WQ 17
K142R]
RG626.K35 1990
618.3'2071-dc20
DNLMIDLC
for Library of Congress 89-21935
© 1990 Springer Seienee+Business Media New York
Origina1ly published by Springer-Verlag New York !ne. in 1990
Softcover reprint of tbe hardeover 1 st edition 1990
AII rights reserved. This work may not be translated or copied in whole or in part without the written permission
of the publisher (Springer Science+Business Media, LLC), except for brief excerpts in connection with reviews
or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation,
computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden.
The use of general descriptive names, trade names, trademarks, etc., in this publication, even if the former are
not especially identified, is not to be taken as a sign that such names, as understood by the Trade Marks and Mer
chandise Marks Act, may accordingly be used freely by anyone.
While the advice and information in this book is believed to be true and accurate at the date of going to press,
neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omis
sions that may be made. The publisher makes no warranty, express or implied, with respect to the material con
tained herein.
Typeset by Publishers Service, Bozeman, Montana.
9 8 7 6 5 4 3 2 1
ISBN 978-1-4757-2113-3
D.K. Kalousek To my teachers and my family-my mother, Jan, Joseph, Andrea, and
Ingrid
N. Fitch To two wonderful biologists and teachers, Dr. N.1. Berrill and Dr. EC
Fraser, and to my children, Tamara and Anna
B.A. Paradice To Dr. Betty 1. Poland who introduced me to Embryofetopathology and
to my husband, Allen
Preface
This book is designed primarily for anatomic pathologists to facilitate their task of
accurately diagnosing embryos and fetuses. A detailed examination of the products of
spontaneous and induced abortions is necessary for accurate genetic counseling and for
establishing the risk for specific abnormalities or another spontaneous pregnancy loss in
the future.
The growing interest in the defects of early development reflects the profound change
in general life-style. In the past, spontaneous abortions were considered a common,
usually sporadic event in a patient's reproductive history. Only reassurance and encour
agement were given to the patient and scant attention was paid to the detailed pathology
of the abortus. Nowadays, however, as a result of reliable methods of contraception and
of the availability of reliable prenatal diagnosis for chromosome abnormalities more
frequent in advanced maternal age, significant numbers of parents plan to have pregnan
cies later in their reproductive life. Consequently, in a case of spontaneous abortion, the
question of "cause" and of "future risk" of recurrence of abortion or an abnormal infant is
particularly important. In the era of more elaborate and accurate prenatal diagnostic tests,
the pathologist examining products of conception has a primary responsibility to detect,
in both spontaneous and induced abortions, any developmental abnormality that would
indicate an increased risk of multifactorial, chromosomal, and single gene disorders in a
subsequent child. Following pregnancy termination after a first or a second trimester
prenatal diagnosis of a defective conceptus, the pathologist is not only responsible for con
firming the abnormal development of the conceptus but also for correlating the morpho
logic findings with ultrasound, cytogenetic, biochemical, and DNA diagnosis and making
a correct final diagnosis to facilitate appropriate prenatal care in the next pregnancy.
Clinicians-medical geneticists, obstetricians, and sonologists-will find this text use
ful for its visualization of specific morphologic lesions and illustrations of the variable
expression of genetic syndromes in embryonic and fetal periods.
The book is divided into three major parts. The first part provides a general review of
normal embryonic and fetal development. The second deals with abortion and the basic
approach to the examination of aborted embryos and fetuses. In the third part, pathologic
findings detected on examination of products of conception are discussed. Practical issues
of specimen collection and examination are summarized in the Appendices. It is important
to note that, in this book's illustrations, the developmental, not the gestational age (see
Chapter 3), of embryos and fetuses is given.
Dagmar K. Kalousek
Naomi Fitch
Barbara A. Paradice
Acknowledgments
We are very grateful to Dr. Clarke Fraser, Dr. Wes Tyson, Dr. Jan Friedman, and Dr. Enid
Gilbert-Barness for their many helpful suggestions. We are indebted to Miss Vicky Earle,
medical artist, for her fine drawings and Miss Miranda Tsai for her help with manuscript
preparation. We would also like to thank the members of the Department of Pathology for
their unfailing cooperation and support. The authors would also like to acknowledge the
generous support and help of the book production staff of Springer-Verlag.
Contents
Preface. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VB
Acknowledgments. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IX
A. Normal Embryonic and Fetal Development
I. Fertilization to the End of the Eighth Week . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Fertilization and Implantation (Stages 1-4) .......................... 3
The Second Week of Development (Stage 5) ......................... 4
The Third Week of Development (Stages 6-9) . . . . . . . . . . . . . . . . . . . . . . . . 4
The Fourth Week of Development (Stages 10-12) . . . . . . . . . . . . . . . . . . . . . 6
The Fifth Week of Development (Stages 13-15) ...................... 8
The Sixth Week of Development (Stages 16-17) ...................... 10
The Seventh Week of Development (Stages 18-19) . . . . . . . . . . . . . . . . . . . . 10
The Eighth Week of Development (Stages 20-23) . . . . . . . . . . . . . . . . . . . . . 12
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14
II. Previable Fetal and Placental Development. . . . . . . . . . . . . . . . . . . . . . . . . . 15
Fetal Development (9-18 Weeks) .................................. 15
Placental Development. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 28
B. Abortion and Specimen Examination
III. Abortion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31
Definitions Used in the Study of Abortions. . . . . . . . . . . . . . . . . . . . . . . . . . 31
Terms Related to Developmental Abnormalities ...................... 31
Classifications of Spontaneous Abortions. . . . . . . . . . . . . . . . . . . . . . . . . . . . 32
Mechanisms of Spontaneous Abortions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 32
Frequency of Spontaneous Abortion. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33
Etiology of Spontaneous Abortion. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35
IV. Principles of Early Abortion Specimen Examination. . . . . . . . . . . . . . . . . . . 37
Examination of the Chorionic Sac. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Examination of the Embryo . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 44
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48
xii Contents
V. Principles of Late Abortion Specimen Examination ................... 49
Examination of the Fetus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49
Examination of the Placenta ...................................... 54
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 60
C. Pathology of Embryonic, Fetal, and Placental Development
VI. Common Morphologic Defects in Embryos and Fetuses . . . . . . . . . . . . . . . . 63
Embryonic Growth Disorganization ................................ 63
Central Nervous System Defects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 66
Facial Clefts ................................................... 90
Limb Abnormalities. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 96
Abdominal Wall Defects. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 102
Defects of the Diaphragm. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 108
Cardiovascular System Defects .................................... 111
Respiratory Tract Defects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 116
Alimentary System Defects .... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 120
Genitourinary System Defects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 128
Intrauterine Growth Retardation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 140
Amnion Rupture Sequence and Limb Body Wall Complex . . . . . . . . . . . . .. 142
Fetal Hydrops. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 148
Posterior Cervical Cystic Hygroma. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 152
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 154
VII. Intrauterine Infections ........................................... 161
Introduction .................................................. " 161
Viral Infections. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 161
Bacterial Infections. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 164
Infections with Other Microorganisms ............................ " 166
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 168
VIII. Chromosomal Abnormalities and Embryonic Phenotype ............... 169
Introduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 169
Trisomies. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 169
Monosomy X .................................................. 174
Triploidy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 176
Tetraploidy .................................................... 178
Structural Rearrangements. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 178
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 178
IX. Chromosome Abnormalities and Phenotype in Previable Fetuses ........ 181
Introduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 181
Trisomy 21 .................................................... 181
Trisomy 18 .......... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 186
Trisomy 13 .................................................... 190
Monosomy X .................................................. 194
Triploidy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 196
47, XXX ...................................................... 200
47, XXY ...................................................... 201
47, XYY ...................................................... 201
Structural Chromosome Rearrangements .. . . . . . . . . . . . . . . . . . . . . . . . . .. 202
References. . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 202
Contents xiii
X. Placental Abnormalities. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 203
Introduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 203
Extraembryonic Membranes ...................................... 203
Umbilical Cord. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 204
Placenta. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 208
Multiple Pregnancies ........................................... , 211
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 212
Appendices
I. Confirmation of Prenatal Diagnosis ................................ 215
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 216
Color Plates. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 217
II. Specimen Evaluation and Collection. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 226
Index ................................... , .. '" ................... " 237
A. Normal Embryonic and Fetal Development