Clinical Embryology An Atlas of Congenital Malformations
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Preface
This book is a unique compilation of notes first documented and written in 1996 by Dr. S. Doss,
one of the co-editors who is an anatomist and embryologist at Cairo University. The clinical
photographs are a unique compilation of three generations of paediatric surgeons, a collection
of over 40,000 images, the lifetime work of the late Professor D. G. Young, University of
Glasgow. This book is dedicated to him.
Clinical embryology is defined as the study of the embryo and its development into the
human form, first as a foetus until birth. It explores the relationship to clinical malformations
that present at birth.
Congenital malformations affect an estimated 3.2 million birth defect-related disabilities
each year worldwide (WHO statistics 2014). Three children out of every hundred born are
affected by a congenital malformation and an estimated 270,000 newborn die within the first
month each year. The ones who survive from the medical and surgical care they receive often
result in long-term disabilities. These have significant impact on the patients, their families and
carers, the health systems and society as a whole. The most common severe congenital malfor-
mations affect the heart, the nervous system, spine and Downs syndrome. In 2010 the World
Health Assembly adopted a resolution calling all member states to promote primary prevention
and the health of children with congenital malformations by:
1. Developing and strengthening registration and surveillance systems
2. Developing expertise and building capacity
3. Strengthening research and studies on aetiology, diagnosis and prevention
4. Promoting international co-operation
The problem with teaching embryology as an undergraduate subject is that all too often it is
done in isolation as a science and part of the anatomy teaching. Since anatomy teaching has
been dropped by many medical schools worldwide, the teaching of embryology has also been
neglected. A recent survey of the whole of the medical undergraduate school of one of the larg-
est universities in the UK revealed that only 17% of students were confident in their embryol-
ogy knowledge and that 80% declared that it should definitely be included in the medical
school curriculum. Eighty per cent found it a difficult subject to understand and only 36% were
satisfied with the teaching of embryology. As a subject embryology is difficult to conceptual-
ise, complex to understand and difficult to teach. The clinical abnormalities encountered in
most conditions can be explained by a failure of this developmental process.
This book is unique because it combines the embryological development of the human and
the malformations encountered in clinical practice.
Undergraduate medical students as well as nurses in training will find it helpful in their
studies. Postgraduate trainees in paediatric surgery, paediatrics and neonatology will find it
easy to follow, and it enables them to explain the mystery of congenital malformations to rela-
tives and patients. General practitioners who will encounter more and more of these patients
vii
viii Preface
with their disabilities will be able to understand how these developed. It is hoped that people
who read this book will find it helpful in their work.
We would like to thank Ms. Suzanne McMahon and Dr. Sharon F. Sneddon as subeditors
for all of their hard work in seeing this book to completion.
I would like to thank my wife Annette for all the work she has helped me over the years to
see this to completion.
Glasgow, UK Robert Carachi
Cairo, Egypt Sameh Helmi Edward Doss
You created my inmost self,
knit me together in my mother’s womb.
For so many marvels I thank you;
A wonder am I, and all your works are wonders.
You knew me through and through
Psalm 139 verses 13, 14 Jerusalem Bible
These verses appear in Surah Al Mu’minūn.
A simple translation of these verses (12–14) is as follows:
We created man from an essence of clay (12),
then We placed him as a drop of fluid (nutfah) in a safe place (13),
then We made that drop into a clinging form (alaqah), and We made that form into a lump of
flesh (mudghah), and We made that lump into bones (idhaam), and We clothed those bones
with flesh (lahm), and later We made him into other forms (nash’ah)—glory be to God, the
best of creators (14)!
ix
Contents
1 A Brief History of Embryology: Historical Vignettes in Embryology������������������� 1
Basith Amjad
2 General Embryology��������������������������������������������������������������������������������������������������� 11
Sameh H. Doss and Sharon F. Sneddon
3 Embryology of the Foetal Membranes and Placenta����������������������������������������������� 31
Sharon F. Sneddon
4 Foetal Circulation������������������������������������������������������������������������������������������������������� 39
Maria Ilina
5 Teratogenesis and Infection��������������������������������������������������������������������������������������� 45
Suzie Wills
6 Embryological Basis of Congenital Anomalies��������������������������������������������������������� 55
Srinivas Annavarapu
7 Antenatal Screening/Prenatal Diagnosis������������������������������������������������������������������� 69
Nicola Brindley
8 Antenatal Counselling and Genetics������������������������������������������������������������������������� 73
Nicola Brindley
9 The Embryological Basis of Behavioural and Psychiatric Conditions������������������� 77
Laxmi Kathuria
10 Animal Models ����������������������������������������������������������������������������������������������������������� 85
Piotr Hajduk
11 Embryology Education for Nurses and Midwives��������������������������������������������������� 91
Gian Battista Parigi and Gloria Pelizzo
12 Oral and Dental Malformations ������������������������������������������������������������������������������� 101
Eiling Wu, Catherine Wicks, Tom W. M. Walker, and Robert Carachi
13 Development of Cleft Lip and Palate ����������������������������������������������������������������������� 111
Ambika Chadha and Alistair R. M. Cobb
14 Facial Clefts����������������������������������������������������������������������������������������������������������������� 119
Tom W. M. Walker, Ben C. Green, Caroline Mills, and Peter Ayliffe
15 TMJ and Mandibular Congenital Malformations��������������������������������������������������� 127
Nabeela Ahmed and N. Shaun Matthews
16 Craniofacial Syndromes��������������������������������������������������������������������������������������������� 133
Elizabeth Anne Gruber and Michael Stephen Dover
17 External, Middle, and Inner Ear������������������������������������������������������������������������������� 143
Frank G. Garritano and Vito C. Quatela
xi
xii Contents
18 Nose and Paranasal Sinuses��������������������������������������������������������������������������������������� 149
Catherine Lau and Steve Goudy
19 Congenital Abnormalities of the Thyroid and Parathyroid ����������������������������������� 157
John D. Collin and Ceri Hughes
20 Embryology of the Salivary Glands ������������������������������������������������������������������������� 165
Catherine Lau and Mark McGurk
21 Embryology of the Branchial Arches ����������������������������������������������������������������������� 169
Mark Wilson and Margaret Coyle
22 Congenital Malformations of the Larynx and Trachea������������������������������������������� 177
Christopher Barringer, Ramanathan Kasivisvanathan, Mark Catolico,
and Steve Goudy
23 Vascular Anomalies of the Head and Neck��������������������������������������������������������������� 185
Ross Elledge, Kevin McMillan, Andrew Monaghan, and Rhodri Williams
24 Eyes������������������������������������������������������������������������������������������������������������������������������� 191
Aaron Jamison and Gerard McGowan
25 Skin and Soft Tissues ������������������������������������������������������������������������������������������������� 201
Mairi Steven
26 The Brain and Central Nervous System������������������������������������������������������������������� 213
Roddy O’Kane and Thomas Begg
27 Chest Wall Abnormalities������������������������������������������������������������������������������������������� 237
James Andrews
28 Cardiac Abnormalities����������������������������������������������������������������������������������������������� 243
Maria Ilina and Stuart Lilley
29 Embryology of the Great Vessels������������������������������������������������������������������������������� 275
Maria Ilina and Stuart Lilley
30 Pulmonary and Airways��������������������������������������������������������������������������������������������� 289
Peter Carachi
31 The Diaphragm����������������������������������������������������������������������������������������������������������� 297
Rania Kronfli
32 Abdominal Wall Defects��������������������������������������������������������������������������������������������� 303
Lynne A. Mcintosh
33 Hernia and Hydrocele������������������������������������������������������������������������������������������������� 311
Aileen Rooney
34 Gastrointestinal Tract 1: Foregut ����������������������������������������������������������������������������� 317
Gregor M. Walker
35 Gastrointestinal Tract II: Midgut����������������������������������������������������������������������������� 325
Marie Steven
36 Gastrointestinal Tract III: Hindgut��������������������������������������������������������������������������� 333
Tim J. Bradnock
37 The Umbilicus������������������������������������������������������������������������������������������������������������� 347
Paul Cullis
38 The Liver and Gallbladder���������������������������������������������������������������������������������������� 353
Mark Davenport
Contents xiii
39 The Pancreas��������������������������������������������������������������������������������������������������������������� 365
Suzanne McMahon
40 Spleen��������������������������������������������������������������������������������������������������������������������������� 371
Mohamed Abdel-Latif and Mohamed Sameh Shalaby
41 Anorectal Malformations and Cloacal Anomalies��������������������������������������������������� 379
Constantinos A. Hajivassiliou
42 The Kidneys and Ureters������������������������������������������������������������������������������������������� 391
Boma Lee and Martyn Flett
43 The Bladder and Urachus ����������������������������������������������������������������������������������������� 409
Emily Broadis
44 Normal Development of the Penis and Urethra������������������������������������������������������� 417
Ahmed T. Hadidi
45 Disorders of Sex Development (DSD)����������������������������������������������������������������������� 427
John Hutson
46 The Testis��������������������������������������������������������������������������������������������������������������������� 437
John Hutson
47 Congenital Abnormalities of the Testis and Epididymis����������������������������������������� 443
Prabhu Sekaran
48 The Limbs ������������������������������������������������������������������������������������������������������������������� 449
Laura Burton and Robert Carachi
49 Embryological Basis of Congenital Tumours����������������������������������������������������������� 463
Philip Hammond and Srinivas Annavarapu
50 Conjoined Twins��������������������������������������������������������������������������������������������������������� 475
Mohamed Abdel-Latif, Mohamed Sameh Shalaby, and Sameh Abd Elhay
Index������������������������������������������������������������������������������������������������������������������������������������� 481
A Brief History of Embryology:
Historical Vignettes in Embryology 1
Basith Amjad
What is embryology? It is perhaps an arbitrary term to embryo to be alive until the baby was born. They also discov-
describe a vast and fascinating science. Most embryologists ered that chicken eggs could be incubated in ovens, a finding
consider their discipline as the study of “developmental biol- later used for studying embryos during different periods of
ogy”, essentially encompassing biological development development (Fig. 1.1).
from a fertilized egg to a multicellular organism. The science of embryology as an entity first appears in
Human embryology considers the developmental aspects works by early Greek philosophers such as Empedocles,
of life as a whole and not just the first 8 weeks of the embryo. Anaxagoras and Diogenes. They were interested in the study
The appreciation of human embryology is important, not just of reproduction, development, differentiation and regenera-
to give us an understanding of how we come into our adult tion of body parts. They believed that new organisms could
form but also to explain the biological, chemical and physi- arise through sexual or asexual reproduction or spontaneous
cal forces, which shape the growing embryo. These very generation. A strongly held view was of a fire inside the
forces then continue to define and sustain the individual embryo, which set the parts in order as the foetus
throughout their lifetime. developed.
Within the last couple of decades, the science of embry- Joseph Needham, one of the great historians of embryol-
ology has taken tremendous strides providing us with the ogy, called Hippocrates (c460 bc–c370 bc) the first true
knowledge and understanding to bring about significant embryologist. Hippocrates believed in what came to be
improvement in both maternal and child health. We are known as preformationism, a concept that all organisms
now equipped with techniques for improving fertility, were fully formed in miniature within the womb before birth.
diagnosing and managing prenatal conditions, sustaining He also felt that the embryo derived its blood supply from
the pregnancy and the foetus and preventing birth the placenta and developed by extracting moisture and breath
anomalies. from the mother. He then went on to identify what he called
These breakthroughs in modern medicine have made a
vast difference in human history and continue to do so. Thus
embryology has brought about long-term social, cultural,
religious, political and financial shifts.
Apart from the obvious better birth outcome, as an esti-
mated 276,000 babies still die within 4 weeks of birth every
year worldwide, the science of applied embryology has long-
term effects on the physical and mental wellbeing of an
individual.
The study of embryology, which is the formation and
development of the embryo and the foetus, can be traced
back to ancient Egypt. Around 1400 bc, the ancient Egyptians
made references to the placenta and its importance as the
seat of the external soul. However they did not consider the
B. Amjad (*) Fig. 1.1 An Egyptian sculpture shows a pharaoh, and attendants in a
Department of Surgical Paediatrics, The Royal Hospital for ceremonial procession carry the pharaoh’s soul, his placenta with the
Children, Glasgow, UK umbilical cord
e-mail: [email protected]; [email protected]
© Springer International Publishing AG, part of Springer Nature 2019 1
R. Carachi, S. H. E. Doss (eds.), Clinical Embryology, https://doi.org/10.1007/978-3-319-26158-4_1
2 B. Amjad
Fig. 1.2 A bust of Hippocrates: the first true embryologist Fig. 1.3 “Preformation” drawn by Nicolaas Hartsoeker in Essai de
Dioptrique, 1694
a number of condensations and fires that led to the formation
and development of bones, flesh, gut and circulation within play in the formation of the embryo. Aristotle also believed
the embryo and foetus (Fig. 1.2). that all young embryos were similar with universal charac-
Even though Plato deals with natural phenomenon in teristics, but as the embryo grew, it started to show differen-
Timaeus (Dialogues 360 bc), the next major progress in tiation (Fig. 1.4).
embryology came about under his pupil Aristotle (384 bc– Following the death of Aristotle, there was not much
322 bc). His main embryological book was titled On the progress in the science of embryology till the time of Galen
Generation of Animals, but most of his well-known observa- of Pergamon (129 ad–216 ad). Even though Galen did not
tional science on embryology is found in the four compendi- give much attention to embryology, he wrote and propa-
ums, the History of Animals, the Parts of Animals, On gated the strong belief that the umbilical cord was neces-
Respiration and On the Motion of Animals. His writings con- sary for foetal respiration. Ali ibn Sahl Al-Tabari of
firm that he studied embryos of different organisms by not Baghdad (808–864) wrote a seven-part system of medicine
only opening up bird eggs at different stages of development called Firdous al-Hikmah in which an entire part was
but also dissecting mammalian embryos. He may have also devoted to embryology, a mixture of Greek and Arabic
observed human embryos, an almost impossible task in thinking at that time. The great Avicenna or to give him his
antiquity. Aristotle believed that the semen supplied a sub- proper name Abu Ali al-Hasan ibn Sina (980–1037) devoted
stance to give form to the embryo and then the mothers sup- certain chapters of his Canon Medicinae to the develop-
plied another substance, which aided development (Fig. 1.3). ment of the foetus but added nothing new to the science
He also believed that the menstrual blood had some part to past Galen (Fig. 1.5).
1 A Brief History of Embryology: Historical Vignettes in Embryology 3
Again quoting Joseph Needham, the credit for helping to
bring embryology back into the scientific realm belongs to
Albertus Magnus of Cologne (c1200 ad–1280 ad). Albertus
read extensively and then interpreted almost all the works of
Aristotle and the Arabic commentaries that accompanied
them and was therefore in the position of replacing specula-
tive and theological ideas with observational techniques and
attention to detail. Albertus believed that women had seeds
and that female seeds congealed after coming into contact
with male seeds, and once this egg came into contact with
menstrual blood, there was nutrition available for the egg to
develop into an embryo and then a foetus. A large portion of
Albertus’s knowledge came from studying chick and fish
embryos.
Fig. 1.4 Plato and Aristotle: The School of Athens by Raphael Leonardo da Vinci (15 April 1452–2 May 1519) has been
described by art historian Helen Gardner as “an individual of
unquenchable curiosity and feverishly inventive imagination,
the very epitome of renaissance humanist ideals”. He was a
polymath whose interests included sculpture, painting, archi-
tecture, music, engineering, cartography, literature, botany,
anatomy and embryology. Among the artists of the
Renaissance, he was not alone in his interest in human anat-
omy. But unlike Michelangelo, Raphael and Durer among
others who undertook human dissection to increase their
understanding of the human body, Leonardo was actually
interested in biology. Leonardo’s embryology is contained in
the third volume of his notebooks called Quaderni d Anatomia.
His drawings show the dissection of the pregnant uterus along
with the amniotic and chorionic membranes. He also under-
took dissection of the human embryo at various stages and
produced quantitative measurements of the growth of the
embryo. He was therefore the first to show that embryos can
be measured chronologically and that they change in size,
shape and weight as they grew. Leonardo’s era also saw the
emergence of midwifery and gynaecology as a field of sci-
ence and practice, and this had direct implications on the
Fig. 1.5 Avicenna at work on the Canon of Medicine emergence of modern embryology (Fig. 1.6a–c).
a b c
Fig. 1.6 (a) From Studies of the Foetus in the Womb by Leonardo da Vinci. (b) Views of a foetus in the womb by Leonardo da Vinci. (c) Self
Portrait: Leonardo da Vinci
4 B. Amjad
Fig. 1.8 Robert Hannah: William Harvey 1848
American historian Arthur M. Schlesinger Jr. has placed
William Harvey (1 April 1578–3 June 1657) among the ten
most influential people of the second millennium. A physi-
cian by training, Harvey’s most defining contribution in
human physiology and anatomy was to describe in complete
detail the circulation of blood. Published in 1628, his work
called On the Motion of the Heart and Blood gave a clear and
detailed account of the function of the heart and the move-
ment of blood around the body in a circuit. Less well known
are Harvey’s contributions to the study of embryology. Using
Fig. 1.7 First edition of Fabricius’s treatise on human embryology low-powered lenses, Harvey had carried out extensive dis-
Padua1600 AD section work in deer and chicken embryos, described the
blastoderm as the site of origin of the embryonic body,
Hieronymus Fabricius (20 May 1537–21 May 1619) of explained the importance of the amniotic fluid and, having
Latium was a student of Falloppio and succeeded him as the shown that even the lowest organisms arise from eggs, finally
professor of surgery and anatomy at the University of Padua. laid the theory of spontaneous generation to rest.
He is considered by many to be the Father of Embryology. In Another unique individual who added to the advancement
reality his work in comparative anatomy is where his legacy of embryology in the seventeenth century was the Italian
lies as he set up the first permanent theatre for public dissec- physician Marcello Malpighi (10 March 1628–29 November
tion. He dissected embryos of man, rabbit, guinea pig, dog, 1694). Malpighi had an illustrious career as an academic
cat, sheep, ox, deer and viper, among others, a feat never professor of medicine and anatomy at Pisa but decided to
before accomplished. This allowed him to investigate the retire from academic pursuit and return home to Bologna and
formation of the foetus, the oesophagus, the stomach and the dedicate his life to anatomical studies. Although some of his
intestines. He also studied the function of the eye, the ear and work involved gross anatomy, his most significant work
the larynx (Fig. 1.7). The drawings and illustrations of appears to be based on the use of the microscope. Because of
Fabricius’ anatomical works are incredibly accurate and this many microscopic structures are named after him includ-
beautiful and a testament to his genius. Unfortunately his ing the Malpighi layer in the skin, Malpighi corpuscles in the
works in embryology which included the belief that the cha- spleen and kidneys, etc. Needham credits him as the person
laza found inside reptile and bird eggs and now known to responsible for the doctrine of preformation, metamorphosis
suspend the yolk was the precursor of the brain, heart and and the development of the embryo as a simple unfolding of
liver and that the heart and other organs of the foetus had no an already miniature adult organism.
proper function were erroneous and subsequently forced Two rival schools of thought dominated the historical nar-
William Harvey to spend a considerable amount of his time rative of embryology in the eighteenth century. The prefor-
challenging and refuting them (Fig. 1.8). mationists, steeped in the writings of Malpighi, Swammerdam
1 A Brief History of Embryology: Historical Vignettes in Embryology 5
Fig. 1.10 Caspar Friedrich Wolff: German physiologist and
embryologist
Fig. 1.9 Albrecht von Haller: Swiss physiologist and naturalist
question of spontaneous generation, the role of mechanism
and Bonnet, believed that the embryo pre-existed in some in developmental embryology, the issue of regeneration and
form in either the maternal egg or the male sperm. They also the dilemma of “monstrous births”. Haller, a “Newtonian
advocated that all embryos had been formed by God at cre- mechanist” and a deeply religious man, held beliefs about
ation and encased within one another to await their future the nature of the world and scientific views that were funda-
appointed time of development. Epigeneticists on the other mentally very different to those of Wolff, whose own world
hand, influenced by the legacy of Aristotle and Harvey, views and scientific outlook derived largely from the tradi-
argued that each egg was newly produced through progres- tion of German rationalism. Wolff’s research work covered
sive development from unorganized material and proposed both the fields of anatomy and microscopic embryology. In a
various theories to explain how this gradual formation series of ground-breaking scientific papers, he laid the foun-
occurred. dation of modern embryology. He was the first to describe
This discourse and dispute between the preformationists the primitive kidneys or mesonephros or the “Wolffian bod-
and the epigeneticists continued throughout the age of ies” and its excretory ducts as laid out in his dissertation
enlightenment and is best showcased by the debate that took entitled “Theoria Generationis”. In 1768 he published De
place between Albrecht von Haller (Fig. 1.9) (16 October formatione intestinorum in which he explained the develop-
1708–12 December 1777), a Swiss anatomist, physiologist ment of the intestine and foreshadows the idea of germ layers
and naturalist, and Caspar Friedrich Wolff (18 January in the embryo. He demonstrated that the chick intestine was
1733–22 February 1794), a German physiologist who is con- formed by the folding of tissue that detaches from the
sidered one of the founders of modern embryology embryo’s ventral surface. The folds eventually transform
(Fig. 1.10). Haller had been an ardent supporter of preforma- into a closed tube. He then argued that this observation
tion since 1758, a year before the publication of Wolff’s dis- proved that the intestine was not preformed and that the
sertation, which endorsed epigenesis. The tussle between the organs appeared gradually. Wolff’s observations are now rec-
two men lasted over a decade and came to define and sym- ognized as the most fundamental conception in structural
bolize the key questions faced by biological sciences in that embryology. Wolff also examined and dissected the so-called
era, the idea of God in relation to the biology of creation, the embryonic monsters and assessed correctly that they were
6 B. Amjad
Fig. 1.11 Herman Boerhaave: Dutch pioneer of chemical
embryology
formed by the mechanics of nature and thus were examples
of epigenesis rather than preformationism. In spite of all this
work by Wolff, Haller’s reputation was such that his asser-
tions continued to cast a powerful influence within the scien-
tific community even though ultimately Wolff was vindicated
by posterity.
Another embryological puzzlement that the embryologist b
wrestled with was the issue of foetal nutrition. The ideas put
forward regarding the source of nutrition included amniotic
fluid ingested by the foetus, a wholesome fluid made avail-
able to the foetus called uterine milk, nutrition circulating
within the menstrual blood and passing via the umbilical
cord. Without clear evidence backed up by experimental
techniques, these ideas remained within the sphere of theory
and conjecture.
Another remarkable individual was the Dutch physician
and anatomist Herman Boerhaave (31 December 1668–23
September 1738). Boerhaave separated egg white from the
yolk and conducted various chemical and physical experi-
mentations including adding various acids and bases and
shaking, heating and boiling the components to see the
effects produced. He thereafter published his results in a first
Fig. 1.12 (a) Page from the Anatomy of the Human Gravid Uterus by
detailed account of chemical embryology. This work in turn William Hunter. (b) Statue of John Hunter outside St George’s Hospital
led to the science of experimental work in the field of biol- in London
ogy (Fig. 1.11).
The brothers William (23 May 1718–30 March 1783) and work on the anatomy of the gravid uterus, was to show
John Hunter (13 February 1728–16 October 1793), anato- clearly that maternal and foetal circulations were two distinct
mists and surgeons, are both giants of modern medicine who physiological systems (Fig. 1.12a, b).
have greatly advanced the scientific method in medicine. The nineteenth century saw one of the great advance-
One of their most significant discoveries, published in their ments in modern biology when cell theory came to be
1 A Brief History of Embryology: Historical Vignettes in Embryology 7
Fig. 1.13 Matthias Schleiden: German botanist and proponent of cell
theory
accepted. It was the work of two remarkable German scien- Fig. 1.14 Theodor Schwann: German biologist and physiologist
tists: Matthias Schleiden (Fig. 1.13) (5 April 1804–23 June
1881) and Theodor Schwann (Fig. 1.14) (7 December 1810– One of the founders of modern embryology, Karl Ernst
11 January 1882). While holding the chair of Botany at the von Baer (17 February 1792–16 November 1876), also
University of Jena, Schleiden studied plant structure under belonged to the nineteenth century and hailed from Estonia.
the microscope and authored Contributions to Phytogenesis He spent most of his productive years at the St. Petersburg
in which he stated that each and every part of a plant is made Academy of Sciences, studying the embryonic development
up of cells. He also mentions the cell nucleus and its role in of animals (Fig. 1.15). His many achievements included the
cell division. Theodor Schwann working at the University of discovery of the mammalian ovum, the blastula stage of
Berlin in Physiology was undertaking research in animal tis- development and the notochord. Building on the work of
sue. A meeting with Schleiden, where they talked about plant Wolff, he described the germ layer theory of development
cells, made him realize that he had observed similar cells in and established that mammals developed from eggs. His
animal notochord. This similarity was confirmed by both sci- book Uber Entwickelungsgeschichte der Thiere established
entists working together, and the results appeared in the foundation of comparative embryology and laid down
Schwann’s famous “Microscopic Investigations on the what have come to be known as Baer’s laws of embryology.
Accordance in the Structure and Growth of Plants and Another leading light in nineteenth-century embryology was
Animals”, in which he declared that “All living things are the German zoologist and experimental embryologist
composed of cells and cell products”. This has now come to Wilhelm Roux (9 June 1850–15 September 1924) who
be known as cell theory or cell doctrine. In the course of this worked mostly with chicken embryos and frog’s eggs to
work, he went on to prove the cellular origin of highly dif- study developmental embryology. Maintaining his embry-
ferentiated tissues including nails and tooth enamel. Vitally onic material in warm saline, he was the first to establish the
he also studied the ovum and established that it is a single idea of tissue culture and helps establish the mosaic theory of
cell that eventually develops into a complete organism, thus epigenesis.
confirming a basic principle of embryology. Schwann is also By the middle of the last century, a sound body of basic
remembered for the discovery of Schwann cells in the knowledge was finally established which could describe
peripheral nervous system and his discovery and study of the events of development within the embryo. Thereafter
pepsin. two themes have dominated the progress and development
8 B. Amjad
Fig. 1.15 Karl Ernst von Baer: established the foundations of modern
embryology
of embryology as a science. One of these themes, chemi-
cal embryology, coming into its own between the 1940s
and the 1970s and using experimental techniques, has
tried to explain the nature of embryonic induction or Fig. 1.16 Hans Spemann: German embryologist and Nobel laureate in
embryogenesis. This process of induction helps to define Medicine
and then direct the development of a group of cells into
particular tissues and organisms. The disciples of this takes place only by means of the germ cells, that is, the egg
field have tried to do this by seeking out and characteriz- cells and the sperm cells, and other cells of the body, that is,
ing these inducing signals. A concurrent theme has been the somatic cells, do not play any part in this process. After
modern molecular embryology, which beginning in the reading Weismann, Spemann switched to the field of zool-
1980s has led to the current revolution in biological sci- ogy and embryology and embarked on a career that eventu-
ences. It seeks to explain at the genomic level the differ- ally led to his appointment at the Institute of Biology in
entiation of cells into specific tissues and structure within Berlin. Working with a protégé named Hilde Mangold, he
the same organisms. Thus embryology is now concerned used microsurgical techniques to transplant a specific group
with the development of the organism from the telescope of cells (which he called the primitive knot and now named
of activation and transcription of the DNA, thus allowing Spemann’s organizer) from one embryo to another. This
us to understand the genetic mechanisms of development organizer upon transplantation was then able to induce sec-
and its consequences. ondary embryonic primordial regardless of its location. He
Hans Spemann (27 June 1869–9 September 1941), a then went on to show how different parts of this organizer
German embryologist and Nobel laureate in Medicine in would produce different parts of the embryo. Thereafter the
1935, spent a lifetime of work in embryonic induction work of Johannes Holtfreter (9 January 1901–13 November
(Fig. 1.16). After qualifying as a doctor of medicine, he was 1992), Joseph Needham (9 December 1900–24 March 1995)
initially intent on a career in medicine, but fate had other and Conrad Waddington (8 November 1905–26 September
plans for him. He contracted tuberculosis and was confined 1975) showed that even if these foci of cells were killed, by
to a sanatorium in 1896 and there, while recuperating, read either fixing, boiling or freezing them, they would continue
The Germ-Plasm: A Theory of Heredity by August Weismann. to cause induction within the embryo. Their conclusion that
Weismann, considered one of the great biologists of all these were inert molecules was better understood by the turn
times, is today best remembered for his germ plasm theory of the century when there was an appreciation of signalling
which states that in a multicellular organism, inheritance within cells and the embryo.