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Basic Embryology
Embryology
The Journey of miracle from the time of
conception to birth!!
2
First Week
• Continuous process
• Human development begins at fertilization
a zygote (a single totipotent cell )
• The zygote, contains chromosomes and genes that are
derived from the mother and father.
• The unicellular zygote multi-cellular human being
through;
– Cell division
– Cell migration
– Cell growth
– Apoptosis
– Cell rearrangement
– Cell differentiation
• Definition:
• Embryology means the study of embryos
• The term generally refers to prenatal development of embryos and
fetuses.
• Developmental Anatomy
• Is the field of embryology concerned with the changes that cells, tissues,
organs, and the body as a whole undergo from a germ cell of each
parent to the resulting adult.
• Teratology
• Study of abnormal embryonic and fetal development.
• Branch of embryology concerned with congenital anomalies or birth
defects and their causes.
a. Prenatal period
b. Postnatal period
• Prenatal period: Period before birth
• 38 weeks from conception to birth (average)
• Gynecologic timing has been from LNMP ,
• Therefore, refers to 40 weeks “gestational” age
• Date of conception has been difficult to time
• LNMP is on average two weeks before ovulation
• Gestational (menstrual) age is widely used in
clinical practice because the onset of the LNMP
is usually easy to establish.
• The first 38 weeks of human development
• Pre-embryonic period:
• First 2 weeks of development
• Zygote becomes a spherical, multicellular
structure.
• Embryonic period:
• Includes the 3rd through 8th week of development.
• All major organs formed during this period.
• Known as the period of organogenesis.
• The developing human from 3rd – 8th week is called
Embryo
• The Fetal Period
• Period that begins at week nine and ends at
birth.
• The fetus continues to grow
• Its organs increase in complexity
• The developing human from 9th week to birth is
called fetus or offspring.
• Divided into three trimesters
• First trimester: fertilization to 12weeks.
• Second trimester: 13 – 24 weeks.
• Third trimester: 25 – 36 weeks.
First trimester:
• Is most critical stage of development.
• Period of organogenesis: all of the major organ-systems
begin to form.
• Is also the period when the developing organism is most
vulnerable to the effects of drugs, radiation and
microbes.
Second trimester:
• Is stage of complete development of organ systems.
• By the end of this stage, the fetus assumes distinctively
human features.
Third trimester:
• Represents a period of rapid fetal growth.
• Weight of the fetus doubles.
• Most of the organ systems become fully functional.
• Final touch is made on many organs.
Significance of Embryology
Bridges the gap between prenatal development and
obstetrics, perinatal medicine, pediatrics, and clinical
anatomy.
Develops knowledge concerning the beginnings of
human life and the changes occurring during prenatal
development.
Helps to understand the causes of variations in human
structure.
Illuminates gross anatomy and explains how normal
and abnormal relations develop.
• Cranial
• Caudal
• Ventral
• Dorsal
Embryological Terminology
• Oocyte (ovum)
• The female germ or sex cell produced in the ovaries.
• When mature, the oocyte is called a secondary oocyte
or mature oocyte.
• Sperm or Spermatozoon
• The sperm, or spermatozoon, refers to the male germ
cell produced in the testes.
• Zygote
• Cell results from the union of an oocyte & a sperm
during fertilization.
• A zygote is the beginning of a new human being (i.e.,
an embryo).
• Conceptus
• The embryo & its associated membranes
• Primordium
• Is the beginning or first discernible indication
of an organ or structure.
Embryological Terminology
Fetus
After the embryonic period (8th weeks), the developing
human is called a fetus.
During the fetal period (9th week to birth),
differentiation & growth of the tissues & organs
formed during the embryonic period occur.
The rate of body growth is remarkable, esp. during the
3rd & 4th months, & weight gain is phenomenal during
the terminal months.
Abortion
A premature stoppage of development & expulsion of a
conceptus from the uterus or expulsion of an embryo or
fetus before it is viable.
Embryological Terminology
Types of abortion
Threatened abortion
• (Bleeding with the possibility of
abortion) is a complication in about
25% of clinically apparent pregnancies.
An accidental abortion occurs because of
an accident.
17
Spontaneous abortion
Is one that occurs naturally & is most common
during the 3rd week after fertilization.
About 15% of recognized pregnancies end in
spontaneous abortion, usually during the first 12
weeks.
Habitual abortion
Is the spontaneous expulsion of a dead or
nonviable embryo or fetus in three or more
consecutive pregnancies.
Types of abortion
Types of abortion
Induced abortion
Is a birth that is induced before 20 weeks (i.e.,
before the fetus is viable).
Refers to the expulsion of an embryo or fetus that
is brought on intentionally by drugs or mechanical
means.
A complete abortion
Is one in which all the products of conception are
expelled from the uterus.
Legally induced abortions (elective, justifiable, or
therapeutic abortions) usually induced:
19
Criminal abortion
Is one that is produced illegally.
Miscarriage
Is the spontaneous abortion of a fetus &
its membranes before the middle of the
second trimester (about 135 days).
An abortus
Is the products of an abortion (i.e., the
embryo/fetus & its membranes).
Types of abortion
Trimester
A period of three calendar months during a pregnancy.
The 9-month period of gestation is commonly divided into
three trimesters.
The most critical stages of development occur during the first
trimester (12 weeks) when embryonic & early fetal
development is occurring.
Congenital Anomalies or Birth Defects
Abnormalities of development that are present at birth
Postnatal period
The changes occurring after birth are more or less familiar to
most people.
Embryological Terminology
Basics of female and male reproductive
structures
22
Female Reproductive Structures
23
 Ovaries
 Uterine tubes (fallopian tubes)
 Uterus
 Vagina
 External genitalia
24
Female Reproductive Structures
25
Female Reproductive Structures
Uterine walls
26
Uterine walls
27
Male Reproductive Structures
28
Testicles
29
Duct system and Accessory glands
30
Gametogenesis
31
Gametogenesis
• Is the process of formation and development of
specialized generative cells called gametes.
• Spermatogenesis in males
• Oogenesis in females.
• The sperm and oocyte, the male and female
gametes, are highly specialized sex cells that will be
produced.
• Begins with meiosis.
• Chromosome number is reduced by half
Normal Gametogenesis
33
Abnormal Gametogenesis
34
Spermiogenesis
• Transformation of spermatids into spermatozoa.
• The entire process of spermatogenesis, which includes
spermiogenesis, takes approximately 2 months (72
days).
• From a single spermatocyte, four new sperm are formed.
• No cell division occurs during this process
• Spermatids contain 23 chromosomes
• All sperm have 22 autosomes and either an X
chromosome, or a Y chromosome.
Spermatids
– small size (7–8 µm in
diameter)
– haploid nuclei with highly
condensed chromatin
– position near the lumen of
the seminiferous tubules
Process of spermiogenesis
• Formation of the acrosome
• Condensation and elongation of the
nucleus
• Development of the flagellum (tail)
• Shedding of much of the cytoplasm
Phases of spermiogenesis
• Golgi phase
• Acrosomal phase
• Maturation phase
Spermiogenesis
45
Oogenesis
46
Oogenesis
• The sequence of events by which oogonia are transformed into
mature oocytes.
• Begins before birth and is completed after puberty.
• Oogonia are diploid cells.
• In females, the sex cell produced is called the secondary oocyte.
• This cell will have 22 autosomes and one X chromosome.
Oogenesis cont’d
• Contains;
• Prenatal maturation phases
• Formation and proliferation of Oogonia
• Oogonia enlarge to form primary oocytes
• Formation of follicular cells
• Formation of zona pellucida
• Beginning of the first meiotic division, but
INCOMPLETE!
48
Oogenesis cont’d
• Contains;
• Post-natal maturation phases
• Ovulation
• Completion of First meiotic division
• Division of unequal cytoplasm
• The cell is arrested at Metaphase II
49
2 million
40,000
400
TRANSPORTATION OF GAMETES
59
TRANSPORTATION OF GAMETES
60
61
TRANSPORTATION OF GAMETES
62
Capacitation reaction
 Elimination of certain molecules from the surface of
the sperm cells
 In the female genital ducts
 Involves removing the glycoprotein coat and seminal
plasma proteins from the head of the sperm.
 Increases motility of the spermatozoa
 Prepares for acrosomal reaction
64
Female Reproductive Cycles
65
Female Reproductive Cycles
66
67
• Anovulatory Menstrual Cycles
68
Hints and tips
69
70
Fertilization
Fertilization Cont’d
71
 The usual site of fertilization is the
ampulla of the uterine tube, its longest
and widest part.
 If the oocyte is not fertilized here, it slowly
passes along the tube to the uterus, where
it degenerates and is resorbed.
 Although fertilization may occur in other
parts of the tube, it does not occur in the
uterus.
 Chemical signals secreted by the oocyte
and surrounding follicular cells, guide the
capacitated sperms to the oocyte.
Phases of Fertilization
1. Passage of a sperm through the corona radiata
2. Penetration of the zona pellucida
3. Fusion of plasma membranes of the oocyte and sperm
4. Completion of the second meiotic division of oocyte and
formation of female pronucleus
5. Formation of the male pronucleus
6. As the pronuclei fuse into a single diploid aggregation of
chromosomes, the ootid becomes a zygote
Phases of Fertilization
Phases of Fertilization
Early pregnancy factor
76
 An immunosuppressant
protein;
 Secreted by the
trophoblastic cells.
 Appears within 24 to 48
hours after fertilization.
 Forms the basis of a
pregnancy test during the
first 10 days of
development.
Results of Fertilization
1. The oocyte is metabolically activated
2. Completion of the 2nd meiotic division of the oocyte that was
arrested at the metaphase stage giving rise to the definitive
oocyte and secondary polar body
3. Restoration of the diploid state of the chromosome (46) in the
zygote
4. Determination of the genetic sex of the offspring
5. Produce genetically unique individual
6. Initiation of the cleavage
103
Cleavage
104
Cleavage
• Repeated mitotic divisions of the zygote, resulting in a rapid
increase in the number of cells.
• Smaller blastomeres are formed with subsequent cleavage
divisions.
• After the nine-cell stage, the blastomeres change their shape
and tightly align themselves against each other to form a
compact ball of cells – compaction.
• When there are 12 to 32 blastomeres, the developing human
is called a morula.
Morula
• Internal cells of the morula (inner
cell mass) are surrounded by a
layer of cells that form the outer
cell layer
• forms approximately 3 days after
fertilization and enters the uterus.
Early Blastocyst
• Occurs when the morula enters the uterus by the 4th day after
fertilization
• Fuid passes from the uterine cavity to the morula through the
zona pellucida
• Now the morula is called blastocyst, fluid-filled space inside the
morula is called blastocystic cavity
Late Blastocyst
• As fluid increases in the blastocystic cavity, it separates the cells into
two parts:
• Trophoblast
• thin, outer cell layer
• gives rise to the embryonic part of the placenta
• Embryoblast
• group of centrally located cells
• inner cell mass
• gives rise to the embryo
Late Blastocyst
Late Blastocyst
• Embryoblast projects into the blastocystic cavity and the
trophoblast forms the wall of the blastocyst.
• Free blastocyst floats in the uterine secretions for
approximately 2 days.
• Zona pellucida gradually degenerates and disappears.
• Blastocyst increase rapidly in size.
• Early embryo derives nourishment from secretions of the
uterine glands.
Implantation
• Approximately 6 days after fertilization, the blastocyst attaches to the endometrial
epithelium, usually adjacent to the embryonic pole
• Trophoblast starts to proliferate rapidly and gradually differentiates into two layers:
• An inner layer of cytotrophoblast
• An outer layer of syncytiotrophoblast consisting of a
multinucleated protoplasmic mass in which no cell
boundaries can be observed
Implantation
Implantation
• At approximately 6 days, syncytiotrophoblast invades the
endometrial epithelium and underlying connective tissue.
• At approximately 7 days, a layer of cells, the hypoblast (primary
endoderm), appears on the surface of the embryoblast facing the
blastocystic cavity.
• By the end of the first week, the blastocyst is superficially
implanted in the endometrium.
Ectopic pregnancy
• An ectopic pregnancy occurs when a fertilized egg implants
and grows outside the main cavity of the uterus.
116
117
DEVELOPMENT CONTINUES
Second Week of Development
Formation of Bilaminar Germ Disc
• Major events during second week;
• Completion of implantation of blastocyst
• Formation of bilaminar embryonic disc
• Formation of Extraembryonic structures;
• The amniotic cavity
• Amnion
• Umbilical vesicle (yolk sac)
• Connecting stalk
• Chorionic sac
Second Week of Development
COMPLETION OFIMPLANTATION AND CONTINUATION OFEMBRYONIC
DEVELOPMENT
• Implantation of the blastocyst is completed.
• It occurs during a restricted time period 6 to 10 days after ovulation.
• Trophoblast contacts the endometrium and differentiates into;
• Cytotrophoblast
• Synctiotrophoblast- invades endometrial CT
• Endometrial wall undergoes apoptosis
• Implantation involve synchronization between the
invading blastocyst and a receptive endometrium.
Endometrium receptive in the presence of the following
substances
 The microvilli of endometrial cells
(pinopodes),
 Cell adhesion molecules,
 Cytokines,
 Prostaglandins,
 Homeobox genes,
 Growth factors,
 Matrix metalloproteins
121
COMPLETTE DIFFERENTIATION TROPHOBLAST
 The TROPHOBLAST
differentiation:
 An inner layer
 Mononucleated cells
= Cytotrophoblast
 An outer layer
 Multinucleated
= Syncytiotrophoblast
Decidual reaction
 Changes in the endometrium.
 Results from the adaptation of these tissues in
preparation for implantation.
 The connective tissue cells with glycogen and lipids.
 Degeneration of the cells adjacent to the penetrating
syncytiotrophoblast.
- decidual cells
 The syncytiotrophoblast engulfs these degenerating cells.
123
 A small space appears in the
embryoblast.
◦ primordium of the amniotic cavity
 Soon amniogenic cells form the
amnion.
◦ encloses the amniotic cavity
 Morphologic changes occur in
the embryoblast
◦ Flat bilaminar plate of cells
embryonic disc 12
4
Formation of Embryonic Disc
• Cells of inner cell mass also differentiate
into two layers.
– Hypoblast
– Epiblast
• A small cavity appears within
the epiblast.
• This cavity enlarges to become
the amniotic cavity.
• Epiblast cells adjacent to the
cytotrophoblast are called amnioblasts.
DEVELOPMENT OF EXTRAEMBRYONIC MESODERM
 Cells arising from primitive yolk sac.
 Form a layer of loose connective tissue.

 Around yolk sac & amnion.
 Small cavities appears in the extra
embryonic mesoderm.
 Un split part of the extra-embryonic
mesoderm appears.
 This mesoderm forms a structure called
the connecting stalk.
DEVELOPMENT OF EXTRAEMBRYONIC MESODERM
Day 9
• Blastocyst is more deeply
embedded
• The penetration defect is
closed
• Vacuoles appear in the
syncytium.
• Establishment of the lacunar
stage.
• Hypoblast cells form a thin
membrane.
(exocoelomic (Heuser’s)
membrane)
• Primitive yolk sac
(exocoelomic cavity forms &
is lined by hypoblast &
exocoelomic membrane.
Days11 & 12
• Establishment of primordial
uteroplacental circulation
• Lacunar spaces in the syncytium that form
an intercommunicating network.
• Cells of syncytiotrophoblast
• Penetrate deeper into the stroma
• Erode the endothelial lining of the
maternal capillaries.
• These capillaries, which are
congested and dilated, are
known as sinusoids.
• Maternal blood enters the
lacunar system.
DEVELOPMENT OF THE CHORIONIC SAC
 The end of the second week is characterized by the appearance of primary
chorionic villi.
 Proliferation of cytotrophoblastic cells produces cellular extensions that grow
into the syncytiotrophoblast.
 The growth of these extensions is thought to be induced by the underlying
extraembryonic somatic mesoderm.
 The cellular projections form primary chorionic villi, the first stage in the
development of the chorionic villi of the placenta.
 The extraembryonic somatic mesoderm and the two
layers of trophoblast form the chorion.
131
DEVELOPMENT OF THE CHORIONIC SAC
• Transvaginal ultrasonography
(endovaginal sonography) is used
for measuring the chorionic
(gestational) sac diameter.
• This measurement is valuable for
evaluating early embryonic
development and pregnancy
outcome.
132
133
Formation of secondary yolk sac & primary
chorionic villi
Day 14
• At 14th day, embryo is in
the form of flat bilaminar
disc.
• In a circular area, cubical
hypoblastic cells become
columnar
– PRECHORDAL PLATE
DEVELOPMENT OF
THIRD WEEK
Development of Third Week
• Beginning of the EMBRYONIC PERIOD (3-8 weeks)
• Period of organogenesis through:
– Cell division
– Cell migration
– Programmed cell death
– Differentiation
– Growth
– Rearrangement
Formation of Germ Layers and Early Tissue and Organ
Differentiation: Third Week
• Characterized by;
– Appearance of primitive streak
– Development of three germ layers
– Development of notochord
– Formation of neural tube
– Development of intra-embryonic mesoderm
– Development of somites
– Early development of cardiovascular system
– Development of chorionic villi
139
Gastrulation
 Bilaminar Trilaminar embryonic germ disc
 The embryo is called Gastrula at this stage
 Indicated by the formation of the primitive streak
 The process of morphogenesis
Formation of Germ Layers and Early Tissue and Organ
Differentiation: Third Week
FORMATION OF GERM LAYERS AND EARLY TISSUE AND
ORGAN DIFFERENTIATION: THIRD WEEK
From Epiblast cells
Migrate to the midline and then
inward and laterally between
the epiblast and hypoblast
Function of primitive streak
 Enables identification of:
 Craniocaudal axis
 Cranial from caudal end
 Dorsal from ventral surface
 Right from left side
 Initiates formation of notochord
145
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Development of Notochord
NEURULATION
Formation of neural groove, tube and crest
NEURULATION
Neural crest
• By cells detaching from the edges of the neural folds.
• Give rise to:
– Peripheral nervous system and their ganglia
– Chromaffin cells of the adrenal medulla
– Schwann cells
– Mesenchyme of the pharyngeal arches as
ectomesenchyme
– Odontoblasts
– Meninges (Arachnoid mater and pia mater)
– Parafollicular cells of the thyroid gland
Differentiation of the intraembryonic mesoderm
• Regionally differentiates into:
– Paraxial mesoderm
– Intermediate mesoderm
– Lateral mesoderm
 Cylindrical column lateral to the notochord
 It differentiates and condenses into somitomers
 Form somites
 Beginning from day 20, three somites appear
each (days 20 – 30)
Somite development
Somites
 Give a total of 42 – 44 pairs by the end of 5th week.
 Identified as:
 4 pairs of occipital somites
 8 pairs of cervical somites
 12 pairs of thoracic somites
 5 pairs of lumbar somites
 5 pairs of sacral somites
 8-10 pairs of coccygeal somites
Somites
 Each somite differentiates into two parts:
 The ventromedial part is sclerotome
 Medially surrounding the notochord & neural tube
 Its cells form the vertebrae and ribs
 The dorsolateral part is the dermomyotome
 Cells from myotome
 give rise to most of the skeletal muscles of the body
 Cells from dermatome form the dermis of the skin
Intermediate mesoderm
• Gives rise to urogenital system
Lateral plate mesoderm
 Cavities appear in the
lateral mesoderm and
coalesce giving horseshoe
shaped intraembryonic
coelomic cavity
Develops into:
Pericardial cavity
Pleural cavity
Peritoneal cavity
Lateral mesoderm
• Divided by the intraembryonic coelomic cavity into:
• Somatic (parietal) mesoderm layer
– Continuous with the extraembryonic mesoderm covering
amnion
– Give rise to the body wall or somatopleure with overlying
ectoderm
• Splanchnic (visceral) mesoderm layer
– Continuous with the extraembryonic mesoderm covering the
umbilical vesicle
– Gives rise to the embryonic gut wall or splanchnopleure with
the endoderm.
Development of blood vessels
 Blood vessel formation (Vasculogenesis &
angiogenesis)
 Begins in the extraembryonic mesoderm of:
 Yolk sac (Umbilical vesicle)
 Connecting stalk
 Chorion
 In the intraembryonic sites appears later
Development of blood vessels
 Vasculogenesis – formation of new vascular
channels by assembly of individual cell precursors.
 Angiogenesis – formation of new vessels by
budding and branching from pre-existing vessels.
173
Development of blood
 Appears first in the extraembryonic sites of the yolk
sac and allantois.
 In embryo appears by the 5th week, first in the liver
and then in spleen, bone marrow and lymph
node.
Development of the heart
 Develops by fusion of a bilateral endocardial heart
tubes in the cardiogenic area (mesoderm located
cranial to the prechordal plate)
 Is the first organ system to reach to a functional state
by day 21 (22).
176
Development of the chorionic villi
 Has three stages:
1. Primary chorionic villi – core of
cytotrophoblast covered by
syncytiotrophoblast
1. Secondary chorionic villi – when
extraembryonic mesoderm grows into
the core of primary villi
2. Tertiary chorionic villi – when blood
vessels (with blood cells and capillaries)
appear in the connective tissue core
Types of Tertiary chorionic villi
1. Anchoring (stem) villi – connected to the decidua
basalis (run from chorionic plate to decidual plate)
1. Floating (branch) villi
 Branches of the stem villi floating in the maternal blood in the
intervillous space
 As placental membrane are engaged in exchange of materials
between maternal and embryonic blood by the end of the 3rd
week
 Development of tissues & organs
 Body forms take place
 Occurs in 3 phases
Growth
Development
Differentiation
 The body form
folding of the embryo
 Trilaminar to Cylindrical Embryo
Development of the 4th – 8th Weeks
Development of the 4th – 8th Weeks
Development of the 4th – 8th Weeks
Development of the 4th – 8th Weeks
Folding in the Horizontal plane
Development at the beginning of 4th Week
• Major changes occur in
the body form.
• Embryo is almost
straight.
• Has 4 – 12 Somites and
produce surface
elevations.
• Neural tube shows
rostral and caudal
Development at the 24 days
• The 1st and 2nd pharyngeal arches
are distinctly visible.
• The embryo is slightly curved
because of the head and tail folds.
• Heart is prominent and has begun to
pump blood.
Development at the 26 days
• Three pairs of pharyngeal arches are
visible.
• Rostral neuropore is closed.
• Forebrain makes prominent elevation.
• The embryo is curved to become C-
shaped.
• Upper limb buds appear.
• Otic and lens placodes appear.
Development at the end of 4th week
• The 4th pharyngeal
arches appear.
• Lower limb buds appear.
• A long tail-like caudal
eminence is visible.
• Caudal neuropore is
closed.
Development at the 5th week
• Changes in the body form are
minor.
• The head grows because of the
growth of the brain.
• Face contacts the heart
prominence because of the
head fold.
Development at the 6th week
• The embryo shows reflex response to touch.
• The embryo shows spontaneous movement, such as twitching
of the trunk and limbs.
• There is rapid regional
differentiation of upper limb.
• Elbow & hand plates develop.
Development at the 6th week
 The external acoustic
meatus develops.
 Eyes are obvious.
 Umbilical intestinal
herniation takes place.
Development at the 7th week
• More differentiation
occurs in the limbs.
• Ossification of upper limb
bones has begun.
Development at the 8th week
• Further development of the limbs takes place showing
purposeful movement.
• Tail has become
smaller.
• Scalp vascular plexus.
Development at the end of the 8th week
 Tail disappears
 Head is large and makes almost half of the embryo
 Neck is established
 Sex is different in appearance of
the external genitalia, but not
distinctive enough.
 The embryo appears distinctly
human looking.
 Embryo is about 27-31mm long
1. Measuring the length of embryo
2. By counting the number of somites
 Greatest length (GL)
 Is the length from most cranial to the caudal ends of the embryo
 Is suitable for embryos of 3rd and early 4th weeks as they are straight
at this period
 Crown-rump length (CRL)
 Is the sitting height
 In greatly flexed embryo, is neck-rump length
 Suitable for older embryos
 Crown-heel length (CHL)
 Is the standing height
 Sometimes suitable for embryos of 8th weeks
Measuring the length of the embryo
Measuring the length of the embryo
Derivatives of the Ectoderm: Neuroectoderm
 Neural tube
 CNS
 Retina
 Pineal body
 Posterior pituitary
 Neural crest
 Peripheral nervous system and
their ganglia
 Chromaffin cells of the adrenal
medulla
 Schwann cells
 Mesenchyme of pharyngeal
arches as ectomesenchyme
 Odontoblasts
 Meninges
 Parafollicular cells of the thyroid
gland
 Cells of the trancoconal cushions
of the heart
Derivatives of the Ectoderm
• Surface ectoderm
– Epidermis, hairs, nails and cutaneous & mammary glands
– Epithelia of the cornea and conjunctica, lacrimal glands &
nasolacrimal ducts
– Epithelia of nasal, paranasal sinus, lips, cheeks, gums &
palate
– Salivary glands
– Epithelia of lower anal canal & terminal male urethra
– Epithelia of external acoustic meatus
– Anterior pituitary gland
– Enamel
– Inner ear
– Lens
Derivatives of the Mesoderm
 In the head region
 Skull
 Muscle
 Connective tissue of
head
 Dentine
 Paraxial mesoderm
 Muscles of trunk
 Skeleton, except skull
 Dermis
 Connective tissues
 Intermediate mesoderm
 Urogenital system
 Lateral mesoderm
 Connective tissue & muscles
of viscera and limbs
 Serous membrane of pleura,
pericardium & peritoneum
 Cardiovascular and
lymphatic system & blood
cells
 Spleen
 Adrenal cortex
Derivatives of the Endoderm
 Epithelium of:
 Gastrointestinal tract, liver, pancreas
 Respiratory tract
 Urinary bladder, most of urethra & urachus
 Tympanic cavity, tympanic antrum, pharyngotympanic
tube and tonsils
 Thymus, thyroid and parathyroid glands
The Fetal Period
• The period from the beginning of the 9th week to birth
• Further differentiation and development of organ
systems.
• Generalized slow down of growth of the head
• The length of the fetus is calculated by
– Crown-rump length (CRL)
– Crown-heel length (CHL)
9th-12th weeks
Face is broad
Liver is the major site of
erythropoiesis
9th-12th weeks
 During the 11th weeks
Intestine has returned into the
abdomen
9th-12th weeks
 Urine formation & urination into amniotic fluid occurs
 During the 12th week
 External genitalia is different in the two sexes
 Erythropoiesis has decreased in the liver and has
begun in spleen
 Upper limbs have almost reached their final
13th-16th weeks
 Growth is rapid
 Scalp hair pattern has
developed
 During the 14th week
 Slow eye movements occur
13-week fetus
13th-17th weeks
– The proportion of the head is relatively smaller
compared with that of the 12th week
– Lower limbs have lengthened
– Ovaries are differentiated and contain primary
follicles
– Eyes and external ears are close to their definitive
position
13th-17th weeks
– Lower limbs reach their final
relative proportional length.
– Quickening (fetal movement)
commonly felt by the mother
– Skin is covered with vernix
caseosa:
17th-20th weeks
 By 18 weeks, the uterus is formed and canalization
of the vagina has begun.
 During the 19th week
 Testes and ovaries have begun to descend, but are still
found on the posterior abdominal wall
 Lanugo hairs (fine wool-like hairs)
 Cover the body completely
21st -25th weeks
• During the 21st -25th weeks
– Growth slows down
– Pronounced weight gain occurs
– Skin is usually wrinkled and more translucent and
reddish
• During the 24th week
– Type II pneumocytes have begun to secret surfactant
–Fingernails are present
26th-29th weeks
• During the 26th-29th weeks
– Lungs are capable of functioning
– CNS has matured to a stage of controlling respiration
and body temperature
– If born, the fetus often survives with intensive care
• During the 26th weeks
– Eyes reopen
– Lanugo hairs and head hairs are well developed
30th week
 Pupillary light reflex can be elicited
 During the 34th week
 Skin is pink and smooth
 Upper and lower limbs appear fat
 Fetus of 32 weeks and older usually survives
35th- 38th weeks
 Nervous system is sufficiently mature to
carry out some integrative function
 Growth slows down
Developments at full term
• Amount of white fat is about 16% of body weight
• Skin is bluish-pink
• Chest is prominent and breasts protrude slightly in both
sexes
• Testes have descended and are usually in the scrotum
• Head is still one of the largest region of the fetal body
The Neonate
 Measures approximately 36cm in crown rump length
(CRL) or 50cm in crown heel length (CHL)
 Weighs 3000-3400gm.
 However, if weighs
 500-1000gm is immature, but may survive
 1500-2500gm is premature and survive, but faces
difficulties
Intrauterine growth retardation (IUGR)
 Weigh 2500gm or less
 The skin is wrinkled because of lack of subcutaneous
fatty tissue
 Cause may be:
 Placental insufficiency
 Multiple gestation
 Malnourishment of the mother
 Smoking of the mother
 Hormonal effect (maternal or fetal)
 Cardiovascular malformations or other congenital
malformations
Prolonged pregnancy & postmaturity
syndromes
 Thin and dry parchment-like skin
 No lanugo hairs
 Vernix caseosa will be reduced or absent
 Long nails
 Overweight
The status of fetus could be assessed by
• Ultrasonic measurement
• Chorionic villus sampling (CVS)
– Could be performed as early as the 9th week
– Provide information, such as
• Chromosomal abnormalities
• Sex-linked disorders
• Identification of the sex
The status of fetus could be assessed by
 Diagnostic amniocentesis
By sampling amniotic fluid
Done during 15th – 18th weeks
Used for;
Identification of the sex of the fetus
Any chromosomal abnormalities
221
The Placenta
The Placenta
 The placenta
 organ that facilitates nutrient & gas exchange between
the maternal & fetal blood streams.
 Fetal membranes include:
 Chorion
 Amnion
 Umbilical vesicle
 Allantois
 The placenta and fetal membranes
 Separate the fetus from the endometrium.
 Shortly after birth, are expelled from the uterus
The Placenta
 Primary site of nutrient and gas exchange between the
mother and embryo/fetus.
 Fetomaternal organ that has two components:
 Fetal part – Develops from the chorionic sac – Villous
chorion (Trophoblast & extraembryonic mesoderm)
 Maternal part – Derived from the endometrium
(decidua basalis)
The Placenta
The Decidua
 After implantation, the uterine endometrium
is called the decidua.
 Decidua refers to the gravid endometrium
 Has three parts
 Decidua basalis – part deep to the conceptus
Forms the maternal part of the placenta
 Decidua capsularis – superficial part overlying the
conceptus.
 Decidua parietalis – all the remaining parts of the
decidua.
The Decidua
226
Full-Term Placenta
• Discoid in shape
• 15 to 25 cm in diameter, 3 cm thick, about 500 – 600 gm.
• At birth, it is torn from the uterine wall and is expelled as the
afterbirth.
• It presents two surfaces: maternal and fetal
– Its maternal surface presents 15–20 lobes/ cotyledons.
– Its fetal surface presents a smooth shining surface.
228
Full-Term Placenta
Fetal surface:
 This side is smooth and shiny.
It is covered by amnion.
 The umbilical cord is
attached close to the center
of the placenta.
 The umbilical vessels
radiate from the umbilical
cord.
 They branch on the fetal
surface to form chorionic
vessels.
230
Functions of the Placenta
• The placenta has three
main functions:
– Metabolic functions
• Synthesis of glycogen,
cholesterol, and fatty
acids
– Transport of gases
and nutrients
• Simple diffusion
• Facilitated diffusion
• Active transport
• Pinocytosis
• Endocrine functions
– Human chorionic
gonadotropin [hCG]
– Progesterone
– Estrogen
– Human chorionic
somatomammotropin
– Human chorionic thyrotropin
– Human chorionic corticotropin
PARTURITION
232
Placental Abnormalities
 Placenta
accreta

 Placenta
percreta
 Placenta
previa
Amniotic Fluid
 Clear, watery fluid which fills amniotic cavity
 It is derived from:
 Amniotic cells by filtration or secretion
 Fetal urine when kidneys start functioning (500 ml in
late pregnancy)
 Secretion of lung cells
 Secretion by placenta
Amniotic Fluid
 Amount
 30ml at 10 weeks
 450 ml at 20 weeks
 800 to 1000 ml at 37 weeks
 The volume of amniotic fluid is replaced every 3 hrs
 Fetus drinks about 400ml of amniotic fluid per day
235
Amniotic Fluid
Functions
 Permits symmetric external growth of the embryo and fetus
 Cushions the embryo and fetus against injuries
 Prevents adherence of the embryo to the amnion
 Allows free fetal movements
 Helps control the embryo's body temperature by maintaining
a relatively constant temperature
Multiple Pregnancy
 The nurturing of two conceptuses at the same time is
termed twinning.
 Twins that originate from two zygotes are dizygotic (DZ)
twins or fraternal twins, whereas twins that originate from
one zygote are monozygotic (MZ) twins or identical twins.
 The fetal membranes and placentas vary according to the
origin of the twins.
 In the case of MZ twins, the type of placenta and
membranes formed depends on when the twinning process
occurs.
 Approximately two thirds of twins are DZ.
Dizygotic Twins
 2/3rd of twins are dizygotic
 formed from fertilization of two oocytes
 DZ twins develop from two zygotes
 May be of the same sex or different sexes.
 They are no more alike genetically than brothers or sisters
born at different times.
 DZ twins always have two amnions and two chorions, but the
chorions and placentas may be fused.
 DZ twinning shows a hereditary tendency.
 Recurrence in families is approximately three times that of
the general population.
Monozygotic Twins
 formed from the fertilization of one oocyte
 develop from one zygote
 results from splitting of zygote at various stages of development
 MZ twins are of the same sex
 genetically identical, and very similar in physical appearance.
 Splitting occurs at 2 cell stage
 MZ twinning usually begins in the blastocyst stage,
 Two embryos, each in its own amniotic sac, develop within the
same chorionic sac and share a common placenta (a
monochorionic-diamniotic twin placenta).
 In rare case spliting occurs at bilaminar disc stage
Monozygotic Twins
 The outcome of the twinning process depends on when the
division occurs.
 If division occurs within the first 72 hours after fertilization, the inner
cell mass (morula) has yet to form and the outer layer of blastocyst
has not yet committed to become chorion. Two embryos, two
amnions, and two chorions develop, and a monozygotic, diamnionic,
dichorionic twin pregnancy evolves. Two distinct placentas or a
single fused placenta may develop.
 If division occurs between the fourth and eighth day, the inner cell
mass has formed and cells destined to become chorion have
already differentiated, but those of the amnion have not. From this
division, two embryos develop, each in a separate amnionic sac
covered by a common chorion. This division gives rise to a
monozygotic, diamnionic, monochorionic twin pregnancy.
Monozygotic Twins
 The outcome of the twinning process depends on when the
division occurs.
 If occurs by about 8 days after fertilization, division results in
two embryos within a common amnionic sac
 monozygotic, monoamnionic, monochorionic twin pregnancy.
 If division is initiated after the embryonic disk has formed,
cleavage is incomplete and conjoined twins result
Monozygotic twins
Clinical
 Conjoint twins
HUMAN BIRTH DEFECTS
(CONGENITAL ANOMALIES,
CONGENITAL MALFORMATION)
Human Birth Defects
 Structural, behavioural, functional and metabolic disorders
present at birth
 Teratology is the science that study birth defects
 May be Minor or Major
Minor Congenital Anomalies
 Occur in about 15% of the newborns
 Are not detrimental to the health of the individual
 In some cases, are associated with major defects and
could serve as a clue for diagnosing more serious
underlying defects
 90% of infants with multiple minor anomalies have one
or more associated major anomalies
Major Congenital Anomalies
 2-3% in the newborn infants
 10-15% in early embryos, but decrease later
because of spontaneous abortion during the first 6-8
weeks
 About 1/3rd of all zygotes formed will never reach the
stage of blastocyst and get implanted because of
lethal chromosomal abnormalities or poorly developed
endometrium
Major Congenital Anomalies
 The incidence of congenital anomalies in the major
organs 3% all together and is:
 1% for the Brain
 0.8% for the Heart
 0.4% for the Kidneys
 0.2% for the Limbs
 0.6% for all the other organs
 0.7% of the newborns have multiple major
anomalies
Major Congenital Anomalies
 Additional anomalies can be detected after birth raising
the incidence of major congenital anomalies to about:
 6% in 2-year-olds
 8% in 5-year-olds
 Approximately 2% additional anomalies are detected
later (e.g., during surgery, dissection, or autopsy)
Causes of congenital anomalies
1. Genetic factors – accounts for 13-15%
2. Environmental factors – accounts for 7-10%
3. Combination of genetic and environmental factors –
account for 20-25%
 Unknown factors – account for 50-60%
Causes of congenital anomalies
Genetic Factors
 Could be:
1. Numerical chromosomal abnormalities
 Involving changes in the number of chromosomes
 Occur due to
 failure of meiotic division to occur or
 abnormal meiotic division during gametogenesis
2. Structural chromosomal abnormalities
 Involving changes in the structure of chromosomes
 Deletion, Translocation…
3. Mutations
Numerical chromosomal abnormalities
 May be:
1. Aneuploidy
 Involves a specific chromosome
 Caused by failure of separation of the chromosomal
pair of the two chromatids of a chromosome during
cell division as nondisjunction
 Occur as hypodiploidy or hyperdiploidy
2. Polyploidy
 Involves the whole set of chromosome
 chromosome number is increased in a multiple of haploid
(23) set of chromosomes
 As triploidy & tetraploidy
Hypodiploidy (Monosomy)
 When one of the paired chromosomes is missing
leading to monosomy
 Could occur in the sex chromosomes or any of the
autosomal chromosomes
Monosomy in the sex chromosomes
 Cause death in about 99% of the cases
 In about 1% of the cases and when the present single
chromosome is the X chromosome, the embryos
survive and show Turner’s syndrome
Turner’s syndrome
 45, X0 chromosomes
 Female phenotype
 Gonadal dysgenesis and no ovary
 Webbed neck
 Lymphedema of the extrimities
 Skeletal deformation, broad chest
and short stature
 Mental retardation
Turner’s syndrome
Monosomy in the autosomal chromosomes
 The embryo die leading to spontaneous abortion,
and are not seen in the population
Hyperdiploidy
 Presence of extra chromosome(s) leading to trisomy,
tetrasomy, etc. in a specific chromosome(s)
 Most commonly involves trisomy of either the sex or
autosomal chromosomes
Trisomy in the sex chromosomes
 Is common, but not usually detected until at the
adolescence age
 Could be:
1. 47, XXX
• Is normal appearing and usually fertile female, but
in about 15-25% may show mild mental retardation
2. 47, XYY
 Is normal appearing male, but aggressive behaviour
 Usually tall
Trisomy in the sex chromosomes
3. 47, XXY
 Is male and shows Klinefelter’s
syndrome with:
− Sterile with testicular atrophy and
hyalinization of the seminiferous
tubules and gynecomastia
− Long lower limbs
− Lower intelligence
Trisomy in the autosomal chromosomes
 Those seen include:
1. Trisomy of chromosome 21
About 75% will die and get aborted, 20% stillborn
and remaining will cause the Down syndrome
Increases with increasing maternal age
Trisomy 21 occurs once in:
1100 births in mothers aged 25 years
350 births in mothers aged 35 years
25 births in mothers aged 45 years
Incidence of Down Syndrome among neonates
Down syndrome
 Flat, broad face
 oblique palpebral fissure
 Furrowed lower lip
 Short digits
 Transverse palmar crease (simian
crease)
 Congenital heart malformations
 Congenital heart defects
Down syndrome
Trisomy in the autosomal chromosomes
 Those seen include:
2. Trisomy of chromosomes 13 (Patau syndrome) &
18 (Edwards syndrome)
 Are less commonly seen because of presence of several
malformations and usually die before reaching the age of
6th months.
Polyploidy
 Multiplication of the haploid chromosomes in sets and could
be:
1. Triploidy with 3n (69 chromosomes)
 May be caused by dispermy or failure of the
separation of the 2nd polar body from the oocyte
 results in spontaneous abortion of the conceptus
or brief survival of live-born infant after birth
2. Tetraploidy with 4n (92 chromosomes)
 Abort very early and not seen
Mosaicism
 Presence of two cell lines with two or more different
genotypes, one normal and the other(s) defective
 Could affect either autosomes or the sex chromosomes
 Usually causes less serious anomalies than those of
monosomy or trisomy for the defect is not fully
expressed
 Usually caused by nondisjunction during early
cleavage of the zygote
Structural chromosomal abnormalities
 Mainly by breakage and reconstitution of
chromosomes during meiotic division in abnormal
combination as:
− Inversion
− Translocation
− Deletion
 Abnormalities caused depend on the fate of the
broken piece, e.g.,
– Translocation of chromosome number 21 is the cause for
3-4% of the Down syndrome
Structural chromosomal abnormalities
 Deletion in the short arm of
chromosome number 5 cause
Cri du chat syndrome with:
 weak cat-like cry
 Microcephaly
 Mental retardation
 Congenital heart malformation
Gene mutation
 Permanent change in the sequence of genomic DNA, causing
loss or change in the function of a gene as single gene
mutation
 Occur as:
 Dominantly inheritable congenital anomalies
Cause birth defects in a single (hetrozygous) dose
 Recessively inheritable mutations
Cause birth defect when occur in a double
(homozygous) dose and rarely in a single
(hetrozygous) dose
Dominantly inheritable congenital anomalies
 Achondroplasia
 Homozygous mutant genes are fatal
before or shortly after birth.
 Hetrozygous cause:
Short stature and limbs
Normal length of the trunk
Relatively large head
Depressed nasal bridge
Dominantly inheritable congenital anomalies
 Polydactyly (extradigits)
 By an autosomal dominant mutations in a variety of single
genes
Environmental factors (Teratogens)
 Agents that cause or raise the incidence of congenital
anomalies
 Determined by the following three factors:
1. The developmental period
First two weeks (predifferentiation or pregerm layer)
Embryonic period
Fetal period
2. Dose of the teratogen
3. Genotype of the embryo
Effect of teratogens during the first 2 weeks
 This is a period of predifferentiation or pregerm layer
 Teratogens within this period interfere with cleavage,
implantation and formation of the extraembryonic
structures and could cause:
a. Early death and spontaneous abortion, or
b. Damage only to some of the cells. Remaining undamaged
cells compensate for those loss and develop normally
causing no congenital anomalies.
Effect of teratogens during the embryonic period
 This is organogenetic period
 Disrupt organogenesis and cause birth defects, each
tissue or organ showing its own critical period of
susceptibility
Effect of teratogens during the fetal period
 This is a period of growth and maturation of organ
systems
 Teratogens cause only functional defects, such as mental
retardation, and/ or minor congenital anomalies
Environmental factors (Teratogens)
 Dose of the teratogens
 The severity of the birth defect is directly related to the
dose of the teratogen
 Genotype of the embryo
 All genotypes are not equally susceptible to a specific
teratogen causing congenital anomalies.
Types of teratogens causing human birth
defects
1. Infectious agents
• Metabolic (Diseases)
2. Drugs and chemicals
• Alcohol, Heroin, Narcotics, Nicotine
3. Radiations
Metabolic Teratogens
Rubella
cardiovascular defects, deafness, blindness,
slow growth of fetus
Syphilis
deafness, mental retardation, skin & bone
lesions, meningitis
Toxoplasmosis
microcephaly, hydrocephaly, cerebral
calcification, mental retardation
Diabetes
cardiac and skeletal malformations, central
nervous system anomalies; increased risk of
stillbirth
Herpes Simplex skin lesions, encephalitis
Mumps spontaneous abortion
Chemical Teratogens
Alcohol
growth & mental retardation, microcephaly,
facial and trunk malformations
Chemotherapy major anomalies throughout body
Diethylstilbestrol cervical and uterine abnormalities
Lithium hearing anomalies
Mercury
mental retardation, cerebral atrophy,
spasticity, blindness
Streptomycin hearing loss, auditory nerve damage
Tetracycline staining of tooth enamel and bones
Thalidomine limb defects, cardiovascular anomalies
Alcohol & Nicotine
 The most common defect of addictive substances, including
nicotine, is low birth weight
 Infants born to addicted women will also be addicted.
 Fetal Alcohol Syndrome
 Growth deficiencies
 Skeletal and facial deformities
 Organ deformities: heart defects; genital malformations;
kidney and urinary defects.
 Central nervous system handicaps: small brain; mental
retardation learning disabilities; hyperactivity, poor
coordination.
286

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Basic Embryology(1).pdf

  • 2. Embryology The Journey of miracle from the time of conception to birth!! 2
  • 3. First Week • Continuous process • Human development begins at fertilization a zygote (a single totipotent cell ) • The zygote, contains chromosomes and genes that are derived from the mother and father. • The unicellular zygote multi-cellular human being through; – Cell division – Cell migration – Cell growth – Apoptosis – Cell rearrangement – Cell differentiation
  • 4. • Definition: • Embryology means the study of embryos • The term generally refers to prenatal development of embryos and fetuses. • Developmental Anatomy • Is the field of embryology concerned with the changes that cells, tissues, organs, and the body as a whole undergo from a germ cell of each parent to the resulting adult. • Teratology • Study of abnormal embryonic and fetal development. • Branch of embryology concerned with congenital anomalies or birth defects and their causes.
  • 5. a. Prenatal period b. Postnatal period • Prenatal period: Period before birth • 38 weeks from conception to birth (average) • Gynecologic timing has been from LNMP , • Therefore, refers to 40 weeks “gestational” age • Date of conception has been difficult to time • LNMP is on average two weeks before ovulation • Gestational (menstrual) age is widely used in clinical practice because the onset of the LNMP is usually easy to establish.
  • 6. • The first 38 weeks of human development • Pre-embryonic period: • First 2 weeks of development • Zygote becomes a spherical, multicellular structure. • Embryonic period: • Includes the 3rd through 8th week of development. • All major organs formed during this period. • Known as the period of organogenesis. • The developing human from 3rd – 8th week is called Embryo
  • 7. • The Fetal Period • Period that begins at week nine and ends at birth. • The fetus continues to grow • Its organs increase in complexity • The developing human from 9th week to birth is called fetus or offspring.
  • 8.
  • 9. • Divided into three trimesters • First trimester: fertilization to 12weeks. • Second trimester: 13 – 24 weeks. • Third trimester: 25 – 36 weeks.
  • 10. First trimester: • Is most critical stage of development. • Period of organogenesis: all of the major organ-systems begin to form. • Is also the period when the developing organism is most vulnerable to the effects of drugs, radiation and microbes.
  • 11. Second trimester: • Is stage of complete development of organ systems. • By the end of this stage, the fetus assumes distinctively human features. Third trimester: • Represents a period of rapid fetal growth. • Weight of the fetus doubles. • Most of the organ systems become fully functional. • Final touch is made on many organs.
  • 12. Significance of Embryology Bridges the gap between prenatal development and obstetrics, perinatal medicine, pediatrics, and clinical anatomy. Develops knowledge concerning the beginnings of human life and the changes occurring during prenatal development. Helps to understand the causes of variations in human structure. Illuminates gross anatomy and explains how normal and abnormal relations develop.
  • 13. • Cranial • Caudal • Ventral • Dorsal
  • 14. Embryological Terminology • Oocyte (ovum) • The female germ or sex cell produced in the ovaries. • When mature, the oocyte is called a secondary oocyte or mature oocyte. • Sperm or Spermatozoon • The sperm, or spermatozoon, refers to the male germ cell produced in the testes. • Zygote • Cell results from the union of an oocyte & a sperm during fertilization. • A zygote is the beginning of a new human being (i.e., an embryo).
  • 15. • Conceptus • The embryo & its associated membranes • Primordium • Is the beginning or first discernible indication of an organ or structure. Embryological Terminology
  • 16. Fetus After the embryonic period (8th weeks), the developing human is called a fetus. During the fetal period (9th week to birth), differentiation & growth of the tissues & organs formed during the embryonic period occur. The rate of body growth is remarkable, esp. during the 3rd & 4th months, & weight gain is phenomenal during the terminal months. Abortion A premature stoppage of development & expulsion of a conceptus from the uterus or expulsion of an embryo or fetus before it is viable. Embryological Terminology
  • 17. Types of abortion Threatened abortion • (Bleeding with the possibility of abortion) is a complication in about 25% of clinically apparent pregnancies. An accidental abortion occurs because of an accident. 17
  • 18. Spontaneous abortion Is one that occurs naturally & is most common during the 3rd week after fertilization. About 15% of recognized pregnancies end in spontaneous abortion, usually during the first 12 weeks. Habitual abortion Is the spontaneous expulsion of a dead or nonviable embryo or fetus in three or more consecutive pregnancies. Types of abortion
  • 19. Types of abortion Induced abortion Is a birth that is induced before 20 weeks (i.e., before the fetus is viable). Refers to the expulsion of an embryo or fetus that is brought on intentionally by drugs or mechanical means. A complete abortion Is one in which all the products of conception are expelled from the uterus. Legally induced abortions (elective, justifiable, or therapeutic abortions) usually induced: 19
  • 20. Criminal abortion Is one that is produced illegally. Miscarriage Is the spontaneous abortion of a fetus & its membranes before the middle of the second trimester (about 135 days). An abortus Is the products of an abortion (i.e., the embryo/fetus & its membranes). Types of abortion
  • 21. Trimester A period of three calendar months during a pregnancy. The 9-month period of gestation is commonly divided into three trimesters. The most critical stages of development occur during the first trimester (12 weeks) when embryonic & early fetal development is occurring. Congenital Anomalies or Birth Defects Abnormalities of development that are present at birth Postnatal period The changes occurring after birth are more or less familiar to most people. Embryological Terminology
  • 22. Basics of female and male reproductive structures 22
  • 23. Female Reproductive Structures 23  Ovaries  Uterine tubes (fallopian tubes)  Uterus  Vagina  External genitalia
  • 30. Duct system and Accessory glands 30
  • 32. Gametogenesis • Is the process of formation and development of specialized generative cells called gametes. • Spermatogenesis in males • Oogenesis in females. • The sperm and oocyte, the male and female gametes, are highly specialized sex cells that will be produced. • Begins with meiosis. • Chromosome number is reduced by half
  • 35. Spermiogenesis • Transformation of spermatids into spermatozoa. • The entire process of spermatogenesis, which includes spermiogenesis, takes approximately 2 months (72 days). • From a single spermatocyte, four new sperm are formed. • No cell division occurs during this process • Spermatids contain 23 chromosomes • All sperm have 22 autosomes and either an X chromosome, or a Y chromosome.
  • 36. Spermatids – small size (7–8 µm in diameter) – haploid nuclei with highly condensed chromatin – position near the lumen of the seminiferous tubules
  • 37. Process of spermiogenesis • Formation of the acrosome • Condensation and elongation of the nucleus • Development of the flagellum (tail) • Shedding of much of the cytoplasm
  • 38. Phases of spermiogenesis • Golgi phase • Acrosomal phase • Maturation phase
  • 40.
  • 41. 45
  • 43. Oogenesis • The sequence of events by which oogonia are transformed into mature oocytes. • Begins before birth and is completed after puberty. • Oogonia are diploid cells. • In females, the sex cell produced is called the secondary oocyte. • This cell will have 22 autosomes and one X chromosome.
  • 44. Oogenesis cont’d • Contains; • Prenatal maturation phases • Formation and proliferation of Oogonia • Oogonia enlarge to form primary oocytes • Formation of follicular cells • Formation of zona pellucida • Beginning of the first meiotic division, but INCOMPLETE! 48
  • 45. Oogenesis cont’d • Contains; • Post-natal maturation phases • Ovulation • Completion of First meiotic division • Division of unequal cytoplasm • The cell is arrested at Metaphase II 49
  • 46.
  • 51. 62
  • 52. Capacitation reaction  Elimination of certain molecules from the surface of the sperm cells  In the female genital ducts  Involves removing the glycoprotein coat and seminal plasma proteins from the head of the sperm.  Increases motility of the spermatozoa  Prepares for acrosomal reaction
  • 53. 64
  • 56. 67
  • 57. • Anovulatory Menstrual Cycles 68 Hints and tips
  • 58. 69
  • 60. Fertilization Cont’d 71  The usual site of fertilization is the ampulla of the uterine tube, its longest and widest part.  If the oocyte is not fertilized here, it slowly passes along the tube to the uterus, where it degenerates and is resorbed.  Although fertilization may occur in other parts of the tube, it does not occur in the uterus.  Chemical signals secreted by the oocyte and surrounding follicular cells, guide the capacitated sperms to the oocyte.
  • 61. Phases of Fertilization 1. Passage of a sperm through the corona radiata 2. Penetration of the zona pellucida 3. Fusion of plasma membranes of the oocyte and sperm 4. Completion of the second meiotic division of oocyte and formation of female pronucleus 5. Formation of the male pronucleus 6. As the pronuclei fuse into a single diploid aggregation of chromosomes, the ootid becomes a zygote
  • 64. Early pregnancy factor 76  An immunosuppressant protein;  Secreted by the trophoblastic cells.  Appears within 24 to 48 hours after fertilization.  Forms the basis of a pregnancy test during the first 10 days of development.
  • 65. Results of Fertilization 1. The oocyte is metabolically activated 2. Completion of the 2nd meiotic division of the oocyte that was arrested at the metaphase stage giving rise to the definitive oocyte and secondary polar body 3. Restoration of the diploid state of the chromosome (46) in the zygote 4. Determination of the genetic sex of the offspring 5. Produce genetically unique individual 6. Initiation of the cleavage
  • 66. 103
  • 68. Cleavage • Repeated mitotic divisions of the zygote, resulting in a rapid increase in the number of cells. • Smaller blastomeres are formed with subsequent cleavage divisions. • After the nine-cell stage, the blastomeres change their shape and tightly align themselves against each other to form a compact ball of cells – compaction. • When there are 12 to 32 blastomeres, the developing human is called a morula.
  • 69. Morula • Internal cells of the morula (inner cell mass) are surrounded by a layer of cells that form the outer cell layer • forms approximately 3 days after fertilization and enters the uterus.
  • 70.
  • 71. Early Blastocyst • Occurs when the morula enters the uterus by the 4th day after fertilization • Fuid passes from the uterine cavity to the morula through the zona pellucida • Now the morula is called blastocyst, fluid-filled space inside the morula is called blastocystic cavity
  • 72. Late Blastocyst • As fluid increases in the blastocystic cavity, it separates the cells into two parts: • Trophoblast • thin, outer cell layer • gives rise to the embryonic part of the placenta • Embryoblast • group of centrally located cells • inner cell mass • gives rise to the embryo
  • 74. Late Blastocyst • Embryoblast projects into the blastocystic cavity and the trophoblast forms the wall of the blastocyst. • Free blastocyst floats in the uterine secretions for approximately 2 days. • Zona pellucida gradually degenerates and disappears. • Blastocyst increase rapidly in size. • Early embryo derives nourishment from secretions of the uterine glands.
  • 75. Implantation • Approximately 6 days after fertilization, the blastocyst attaches to the endometrial epithelium, usually adjacent to the embryonic pole • Trophoblast starts to proliferate rapidly and gradually differentiates into two layers: • An inner layer of cytotrophoblast • An outer layer of syncytiotrophoblast consisting of a multinucleated protoplasmic mass in which no cell boundaries can be observed
  • 77. Implantation • At approximately 6 days, syncytiotrophoblast invades the endometrial epithelium and underlying connective tissue. • At approximately 7 days, a layer of cells, the hypoblast (primary endoderm), appears on the surface of the embryoblast facing the blastocystic cavity. • By the end of the first week, the blastocyst is superficially implanted in the endometrium.
  • 78.
  • 79. Ectopic pregnancy • An ectopic pregnancy occurs when a fertilized egg implants and grows outside the main cavity of the uterus. 116
  • 81. Second Week of Development Formation of Bilaminar Germ Disc
  • 82. • Major events during second week; • Completion of implantation of blastocyst • Formation of bilaminar embryonic disc • Formation of Extraembryonic structures; • The amniotic cavity • Amnion • Umbilical vesicle (yolk sac) • Connecting stalk • Chorionic sac Second Week of Development
  • 83. COMPLETION OFIMPLANTATION AND CONTINUATION OFEMBRYONIC DEVELOPMENT • Implantation of the blastocyst is completed. • It occurs during a restricted time period 6 to 10 days after ovulation. • Trophoblast contacts the endometrium and differentiates into; • Cytotrophoblast • Synctiotrophoblast- invades endometrial CT • Endometrial wall undergoes apoptosis • Implantation involve synchronization between the invading blastocyst and a receptive endometrium.
  • 84. Endometrium receptive in the presence of the following substances  The microvilli of endometrial cells (pinopodes),  Cell adhesion molecules,  Cytokines,  Prostaglandins,  Homeobox genes,  Growth factors,  Matrix metalloproteins 121
  • 85. COMPLETTE DIFFERENTIATION TROPHOBLAST  The TROPHOBLAST differentiation:  An inner layer  Mononucleated cells = Cytotrophoblast  An outer layer  Multinucleated = Syncytiotrophoblast
  • 86. Decidual reaction  Changes in the endometrium.  Results from the adaptation of these tissues in preparation for implantation.  The connective tissue cells with glycogen and lipids.  Degeneration of the cells adjacent to the penetrating syncytiotrophoblast. - decidual cells  The syncytiotrophoblast engulfs these degenerating cells. 123
  • 87.  A small space appears in the embryoblast. ◦ primordium of the amniotic cavity  Soon amniogenic cells form the amnion. ◦ encloses the amniotic cavity  Morphologic changes occur in the embryoblast ◦ Flat bilaminar plate of cells embryonic disc 12 4
  • 88. Formation of Embryonic Disc • Cells of inner cell mass also differentiate into two layers. – Hypoblast – Epiblast • A small cavity appears within the epiblast. • This cavity enlarges to become the amniotic cavity. • Epiblast cells adjacent to the cytotrophoblast are called amnioblasts.
  • 89. DEVELOPMENT OF EXTRAEMBRYONIC MESODERM  Cells arising from primitive yolk sac.  Form a layer of loose connective tissue.   Around yolk sac & amnion.  Small cavities appears in the extra embryonic mesoderm.  Un split part of the extra-embryonic mesoderm appears.  This mesoderm forms a structure called the connecting stalk.
  • 90.
  • 92. Day 9 • Blastocyst is more deeply embedded • The penetration defect is closed • Vacuoles appear in the syncytium. • Establishment of the lacunar stage. • Hypoblast cells form a thin membrane. (exocoelomic (Heuser’s) membrane) • Primitive yolk sac (exocoelomic cavity forms & is lined by hypoblast & exocoelomic membrane.
  • 93. Days11 & 12 • Establishment of primordial uteroplacental circulation • Lacunar spaces in the syncytium that form an intercommunicating network. • Cells of syncytiotrophoblast • Penetrate deeper into the stroma • Erode the endothelial lining of the maternal capillaries. • These capillaries, which are congested and dilated, are known as sinusoids. • Maternal blood enters the lacunar system.
  • 94. DEVELOPMENT OF THE CHORIONIC SAC  The end of the second week is characterized by the appearance of primary chorionic villi.  Proliferation of cytotrophoblastic cells produces cellular extensions that grow into the syncytiotrophoblast.  The growth of these extensions is thought to be induced by the underlying extraembryonic somatic mesoderm.  The cellular projections form primary chorionic villi, the first stage in the development of the chorionic villi of the placenta.  The extraembryonic somatic mesoderm and the two layers of trophoblast form the chorion. 131
  • 95. DEVELOPMENT OF THE CHORIONIC SAC • Transvaginal ultrasonography (endovaginal sonography) is used for measuring the chorionic (gestational) sac diameter. • This measurement is valuable for evaluating early embryonic development and pregnancy outcome. 132
  • 96. 133
  • 97. Formation of secondary yolk sac & primary chorionic villi
  • 98.
  • 99. Day 14 • At 14th day, embryo is in the form of flat bilaminar disc. • In a circular area, cubical hypoblastic cells become columnar – PRECHORDAL PLATE
  • 101. Development of Third Week • Beginning of the EMBRYONIC PERIOD (3-8 weeks) • Period of organogenesis through: – Cell division – Cell migration – Programmed cell death – Differentiation – Growth – Rearrangement
  • 102. Formation of Germ Layers and Early Tissue and Organ Differentiation: Third Week • Characterized by; – Appearance of primitive streak – Development of three germ layers – Development of notochord – Formation of neural tube – Development of intra-embryonic mesoderm – Development of somites – Early development of cardiovascular system – Development of chorionic villi 139
  • 103. Gastrulation  Bilaminar Trilaminar embryonic germ disc  The embryo is called Gastrula at this stage  Indicated by the formation of the primitive streak  The process of morphogenesis
  • 104. Formation of Germ Layers and Early Tissue and Organ Differentiation: Third Week
  • 105. FORMATION OF GERM LAYERS AND EARLY TISSUE AND ORGAN DIFFERENTIATION: THIRD WEEK From Epiblast cells Migrate to the midline and then inward and laterally between the epiblast and hypoblast
  • 106. Function of primitive streak  Enables identification of:  Craniocaudal axis  Cranial from caudal end  Dorsal from ventral surface  Right from left side  Initiates formation of notochord 145
  • 107. 146
  • 110. Formation of neural groove, tube and crest NEURULATION
  • 111. Neural crest • By cells detaching from the edges of the neural folds. • Give rise to: – Peripheral nervous system and their ganglia – Chromaffin cells of the adrenal medulla – Schwann cells – Mesenchyme of the pharyngeal arches as ectomesenchyme – Odontoblasts – Meninges (Arachnoid mater and pia mater) – Parafollicular cells of the thyroid gland
  • 112. Differentiation of the intraembryonic mesoderm • Regionally differentiates into: – Paraxial mesoderm – Intermediate mesoderm – Lateral mesoderm
  • 113.  Cylindrical column lateral to the notochord  It differentiates and condenses into somitomers  Form somites  Beginning from day 20, three somites appear each (days 20 – 30)
  • 115. Somites  Give a total of 42 – 44 pairs by the end of 5th week.  Identified as:  4 pairs of occipital somites  8 pairs of cervical somites  12 pairs of thoracic somites  5 pairs of lumbar somites  5 pairs of sacral somites  8-10 pairs of coccygeal somites
  • 116. Somites  Each somite differentiates into two parts:  The ventromedial part is sclerotome  Medially surrounding the notochord & neural tube  Its cells form the vertebrae and ribs  The dorsolateral part is the dermomyotome  Cells from myotome  give rise to most of the skeletal muscles of the body  Cells from dermatome form the dermis of the skin
  • 117. Intermediate mesoderm • Gives rise to urogenital system
  • 118. Lateral plate mesoderm  Cavities appear in the lateral mesoderm and coalesce giving horseshoe shaped intraembryonic coelomic cavity Develops into: Pericardial cavity Pleural cavity Peritoneal cavity
  • 119. Lateral mesoderm • Divided by the intraembryonic coelomic cavity into: • Somatic (parietal) mesoderm layer – Continuous with the extraembryonic mesoderm covering amnion – Give rise to the body wall or somatopleure with overlying ectoderm • Splanchnic (visceral) mesoderm layer – Continuous with the extraembryonic mesoderm covering the umbilical vesicle – Gives rise to the embryonic gut wall or splanchnopleure with the endoderm.
  • 120. Development of blood vessels  Blood vessel formation (Vasculogenesis & angiogenesis)  Begins in the extraembryonic mesoderm of:  Yolk sac (Umbilical vesicle)  Connecting stalk  Chorion  In the intraembryonic sites appears later
  • 121. Development of blood vessels  Vasculogenesis – formation of new vascular channels by assembly of individual cell precursors.  Angiogenesis – formation of new vessels by budding and branching from pre-existing vessels. 173
  • 122. Development of blood  Appears first in the extraembryonic sites of the yolk sac and allantois.  In embryo appears by the 5th week, first in the liver and then in spleen, bone marrow and lymph node.
  • 123. Development of the heart  Develops by fusion of a bilateral endocardial heart tubes in the cardiogenic area (mesoderm located cranial to the prechordal plate)  Is the first organ system to reach to a functional state by day 21 (22).
  • 124. 176
  • 125. Development of the chorionic villi  Has three stages: 1. Primary chorionic villi – core of cytotrophoblast covered by syncytiotrophoblast 1. Secondary chorionic villi – when extraembryonic mesoderm grows into the core of primary villi 2. Tertiary chorionic villi – when blood vessels (with blood cells and capillaries) appear in the connective tissue core
  • 126. Types of Tertiary chorionic villi 1. Anchoring (stem) villi – connected to the decidua basalis (run from chorionic plate to decidual plate) 1. Floating (branch) villi  Branches of the stem villi floating in the maternal blood in the intervillous space  As placental membrane are engaged in exchange of materials between maternal and embryonic blood by the end of the 3rd week
  • 127.
  • 128.  Development of tissues & organs  Body forms take place  Occurs in 3 phases Growth Development Differentiation  The body form folding of the embryo  Trilaminar to Cylindrical Embryo Development of the 4th – 8th Weeks
  • 129. Development of the 4th – 8th Weeks
  • 130. Development of the 4th – 8th Weeks
  • 131. Development of the 4th – 8th Weeks
  • 132. Folding in the Horizontal plane
  • 133. Development at the beginning of 4th Week • Major changes occur in the body form. • Embryo is almost straight. • Has 4 – 12 Somites and produce surface elevations. • Neural tube shows rostral and caudal
  • 134. Development at the 24 days • The 1st and 2nd pharyngeal arches are distinctly visible. • The embryo is slightly curved because of the head and tail folds. • Heart is prominent and has begun to pump blood.
  • 135. Development at the 26 days • Three pairs of pharyngeal arches are visible. • Rostral neuropore is closed. • Forebrain makes prominent elevation. • The embryo is curved to become C- shaped. • Upper limb buds appear. • Otic and lens placodes appear.
  • 136. Development at the end of 4th week • The 4th pharyngeal arches appear. • Lower limb buds appear. • A long tail-like caudal eminence is visible. • Caudal neuropore is closed.
  • 137. Development at the 5th week • Changes in the body form are minor. • The head grows because of the growth of the brain. • Face contacts the heart prominence because of the head fold.
  • 138. Development at the 6th week • The embryo shows reflex response to touch. • The embryo shows spontaneous movement, such as twitching of the trunk and limbs. • There is rapid regional differentiation of upper limb. • Elbow & hand plates develop.
  • 139. Development at the 6th week  The external acoustic meatus develops.  Eyes are obvious.  Umbilical intestinal herniation takes place.
  • 140. Development at the 7th week • More differentiation occurs in the limbs. • Ossification of upper limb bones has begun.
  • 141. Development at the 8th week • Further development of the limbs takes place showing purposeful movement. • Tail has become smaller. • Scalp vascular plexus.
  • 142. Development at the end of the 8th week  Tail disappears  Head is large and makes almost half of the embryo  Neck is established  Sex is different in appearance of the external genitalia, but not distinctive enough.  The embryo appears distinctly human looking.  Embryo is about 27-31mm long
  • 143. 1. Measuring the length of embryo 2. By counting the number of somites
  • 144.  Greatest length (GL)  Is the length from most cranial to the caudal ends of the embryo  Is suitable for embryos of 3rd and early 4th weeks as they are straight at this period  Crown-rump length (CRL)  Is the sitting height  In greatly flexed embryo, is neck-rump length  Suitable for older embryos  Crown-heel length (CHL)  Is the standing height  Sometimes suitable for embryos of 8th weeks Measuring the length of the embryo
  • 145. Measuring the length of the embryo
  • 146. Derivatives of the Ectoderm: Neuroectoderm  Neural tube  CNS  Retina  Pineal body  Posterior pituitary  Neural crest  Peripheral nervous system and their ganglia  Chromaffin cells of the adrenal medulla  Schwann cells  Mesenchyme of pharyngeal arches as ectomesenchyme  Odontoblasts  Meninges  Parafollicular cells of the thyroid gland  Cells of the trancoconal cushions of the heart
  • 147. Derivatives of the Ectoderm • Surface ectoderm – Epidermis, hairs, nails and cutaneous & mammary glands – Epithelia of the cornea and conjunctica, lacrimal glands & nasolacrimal ducts – Epithelia of nasal, paranasal sinus, lips, cheeks, gums & palate – Salivary glands – Epithelia of lower anal canal & terminal male urethra – Epithelia of external acoustic meatus – Anterior pituitary gland – Enamel – Inner ear – Lens
  • 148. Derivatives of the Mesoderm  In the head region  Skull  Muscle  Connective tissue of head  Dentine  Paraxial mesoderm  Muscles of trunk  Skeleton, except skull  Dermis  Connective tissues  Intermediate mesoderm  Urogenital system  Lateral mesoderm  Connective tissue & muscles of viscera and limbs  Serous membrane of pleura, pericardium & peritoneum  Cardiovascular and lymphatic system & blood cells  Spleen  Adrenal cortex
  • 149. Derivatives of the Endoderm  Epithelium of:  Gastrointestinal tract, liver, pancreas  Respiratory tract  Urinary bladder, most of urethra & urachus  Tympanic cavity, tympanic antrum, pharyngotympanic tube and tonsils  Thymus, thyroid and parathyroid glands
  • 150.
  • 151. The Fetal Period • The period from the beginning of the 9th week to birth • Further differentiation and development of organ systems. • Generalized slow down of growth of the head • The length of the fetus is calculated by – Crown-rump length (CRL) – Crown-heel length (CHL)
  • 152. 9th-12th weeks Face is broad Liver is the major site of erythropoiesis
  • 153. 9th-12th weeks  During the 11th weeks Intestine has returned into the abdomen
  • 154. 9th-12th weeks  Urine formation & urination into amniotic fluid occurs  During the 12th week  External genitalia is different in the two sexes  Erythropoiesis has decreased in the liver and has begun in spleen  Upper limbs have almost reached their final
  • 155. 13th-16th weeks  Growth is rapid  Scalp hair pattern has developed  During the 14th week  Slow eye movements occur 13-week fetus
  • 156. 13th-17th weeks – The proportion of the head is relatively smaller compared with that of the 12th week – Lower limbs have lengthened – Ovaries are differentiated and contain primary follicles – Eyes and external ears are close to their definitive position
  • 157. 13th-17th weeks – Lower limbs reach their final relative proportional length. – Quickening (fetal movement) commonly felt by the mother – Skin is covered with vernix caseosa:
  • 158. 17th-20th weeks  By 18 weeks, the uterus is formed and canalization of the vagina has begun.  During the 19th week  Testes and ovaries have begun to descend, but are still found on the posterior abdominal wall  Lanugo hairs (fine wool-like hairs)  Cover the body completely
  • 159. 21st -25th weeks • During the 21st -25th weeks – Growth slows down – Pronounced weight gain occurs – Skin is usually wrinkled and more translucent and reddish • During the 24th week – Type II pneumocytes have begun to secret surfactant –Fingernails are present
  • 160. 26th-29th weeks • During the 26th-29th weeks – Lungs are capable of functioning – CNS has matured to a stage of controlling respiration and body temperature – If born, the fetus often survives with intensive care • During the 26th weeks – Eyes reopen – Lanugo hairs and head hairs are well developed
  • 161. 30th week  Pupillary light reflex can be elicited  During the 34th week  Skin is pink and smooth  Upper and lower limbs appear fat  Fetus of 32 weeks and older usually survives
  • 162. 35th- 38th weeks  Nervous system is sufficiently mature to carry out some integrative function  Growth slows down
  • 163. Developments at full term • Amount of white fat is about 16% of body weight • Skin is bluish-pink • Chest is prominent and breasts protrude slightly in both sexes • Testes have descended and are usually in the scrotum • Head is still one of the largest region of the fetal body
  • 164. The Neonate  Measures approximately 36cm in crown rump length (CRL) or 50cm in crown heel length (CHL)  Weighs 3000-3400gm.  However, if weighs  500-1000gm is immature, but may survive  1500-2500gm is premature and survive, but faces difficulties
  • 165. Intrauterine growth retardation (IUGR)  Weigh 2500gm or less  The skin is wrinkled because of lack of subcutaneous fatty tissue  Cause may be:  Placental insufficiency  Multiple gestation  Malnourishment of the mother  Smoking of the mother  Hormonal effect (maternal or fetal)  Cardiovascular malformations or other congenital malformations
  • 166. Prolonged pregnancy & postmaturity syndromes  Thin and dry parchment-like skin  No lanugo hairs  Vernix caseosa will be reduced or absent  Long nails  Overweight
  • 167. The status of fetus could be assessed by • Ultrasonic measurement • Chorionic villus sampling (CVS) – Could be performed as early as the 9th week – Provide information, such as • Chromosomal abnormalities • Sex-linked disorders • Identification of the sex
  • 168. The status of fetus could be assessed by  Diagnostic amniocentesis By sampling amniotic fluid Done during 15th – 18th weeks Used for; Identification of the sex of the fetus Any chromosomal abnormalities
  • 170. The Placenta  The placenta  organ that facilitates nutrient & gas exchange between the maternal & fetal blood streams.  Fetal membranes include:  Chorion  Amnion  Umbilical vesicle  Allantois  The placenta and fetal membranes  Separate the fetus from the endometrium.  Shortly after birth, are expelled from the uterus
  • 171. The Placenta  Primary site of nutrient and gas exchange between the mother and embryo/fetus.  Fetomaternal organ that has two components:  Fetal part – Develops from the chorionic sac – Villous chorion (Trophoblast & extraembryonic mesoderm)  Maternal part – Derived from the endometrium (decidua basalis)
  • 173. The Decidua  After implantation, the uterine endometrium is called the decidua.  Decidua refers to the gravid endometrium  Has three parts  Decidua basalis – part deep to the conceptus Forms the maternal part of the placenta  Decidua capsularis – superficial part overlying the conceptus.  Decidua parietalis – all the remaining parts of the decidua.
  • 175. Full-Term Placenta • Discoid in shape • 15 to 25 cm in diameter, 3 cm thick, about 500 – 600 gm. • At birth, it is torn from the uterine wall and is expelled as the afterbirth. • It presents two surfaces: maternal and fetal – Its maternal surface presents 15–20 lobes/ cotyledons. – Its fetal surface presents a smooth shining surface.
  • 176. 228
  • 177. Full-Term Placenta Fetal surface:  This side is smooth and shiny. It is covered by amnion.  The umbilical cord is attached close to the center of the placenta.  The umbilical vessels radiate from the umbilical cord.  They branch on the fetal surface to form chorionic vessels.
  • 178. 230
  • 179. Functions of the Placenta • The placenta has three main functions: – Metabolic functions • Synthesis of glycogen, cholesterol, and fatty acids – Transport of gases and nutrients • Simple diffusion • Facilitated diffusion • Active transport • Pinocytosis • Endocrine functions – Human chorionic gonadotropin [hCG] – Progesterone – Estrogen – Human chorionic somatomammotropin – Human chorionic thyrotropin – Human chorionic corticotropin
  • 181. Placental Abnormalities  Placenta accreta   Placenta percreta  Placenta previa
  • 182. Amniotic Fluid  Clear, watery fluid which fills amniotic cavity  It is derived from:  Amniotic cells by filtration or secretion  Fetal urine when kidneys start functioning (500 ml in late pregnancy)  Secretion of lung cells  Secretion by placenta
  • 183. Amniotic Fluid  Amount  30ml at 10 weeks  450 ml at 20 weeks  800 to 1000 ml at 37 weeks  The volume of amniotic fluid is replaced every 3 hrs  Fetus drinks about 400ml of amniotic fluid per day 235
  • 184. Amniotic Fluid Functions  Permits symmetric external growth of the embryo and fetus  Cushions the embryo and fetus against injuries  Prevents adherence of the embryo to the amnion  Allows free fetal movements  Helps control the embryo's body temperature by maintaining a relatively constant temperature
  • 185. Multiple Pregnancy  The nurturing of two conceptuses at the same time is termed twinning.  Twins that originate from two zygotes are dizygotic (DZ) twins or fraternal twins, whereas twins that originate from one zygote are monozygotic (MZ) twins or identical twins.  The fetal membranes and placentas vary according to the origin of the twins.  In the case of MZ twins, the type of placenta and membranes formed depends on when the twinning process occurs.  Approximately two thirds of twins are DZ.
  • 186. Dizygotic Twins  2/3rd of twins are dizygotic  formed from fertilization of two oocytes  DZ twins develop from two zygotes  May be of the same sex or different sexes.  They are no more alike genetically than brothers or sisters born at different times.  DZ twins always have two amnions and two chorions, but the chorions and placentas may be fused.  DZ twinning shows a hereditary tendency.  Recurrence in families is approximately three times that of the general population.
  • 187.
  • 188. Monozygotic Twins  formed from the fertilization of one oocyte  develop from one zygote  results from splitting of zygote at various stages of development  MZ twins are of the same sex  genetically identical, and very similar in physical appearance.  Splitting occurs at 2 cell stage  MZ twinning usually begins in the blastocyst stage,  Two embryos, each in its own amniotic sac, develop within the same chorionic sac and share a common placenta (a monochorionic-diamniotic twin placenta).  In rare case spliting occurs at bilaminar disc stage
  • 189. Monozygotic Twins  The outcome of the twinning process depends on when the division occurs.  If division occurs within the first 72 hours after fertilization, the inner cell mass (morula) has yet to form and the outer layer of blastocyst has not yet committed to become chorion. Two embryos, two amnions, and two chorions develop, and a monozygotic, diamnionic, dichorionic twin pregnancy evolves. Two distinct placentas or a single fused placenta may develop.  If division occurs between the fourth and eighth day, the inner cell mass has formed and cells destined to become chorion have already differentiated, but those of the amnion have not. From this division, two embryos develop, each in a separate amnionic sac covered by a common chorion. This division gives rise to a monozygotic, diamnionic, monochorionic twin pregnancy.
  • 190. Monozygotic Twins  The outcome of the twinning process depends on when the division occurs.  If occurs by about 8 days after fertilization, division results in two embryos within a common amnionic sac  monozygotic, monoamnionic, monochorionic twin pregnancy.  If division is initiated after the embryonic disk has formed, cleavage is incomplete and conjoined twins result
  • 193. HUMAN BIRTH DEFECTS (CONGENITAL ANOMALIES, CONGENITAL MALFORMATION)
  • 194. Human Birth Defects  Structural, behavioural, functional and metabolic disorders present at birth  Teratology is the science that study birth defects  May be Minor or Major
  • 195. Minor Congenital Anomalies  Occur in about 15% of the newborns  Are not detrimental to the health of the individual  In some cases, are associated with major defects and could serve as a clue for diagnosing more serious underlying defects  90% of infants with multiple minor anomalies have one or more associated major anomalies
  • 196. Major Congenital Anomalies  2-3% in the newborn infants  10-15% in early embryos, but decrease later because of spontaneous abortion during the first 6-8 weeks  About 1/3rd of all zygotes formed will never reach the stage of blastocyst and get implanted because of lethal chromosomal abnormalities or poorly developed endometrium
  • 197. Major Congenital Anomalies  The incidence of congenital anomalies in the major organs 3% all together and is:  1% for the Brain  0.8% for the Heart  0.4% for the Kidneys  0.2% for the Limbs  0.6% for all the other organs  0.7% of the newborns have multiple major anomalies
  • 198. Major Congenital Anomalies  Additional anomalies can be detected after birth raising the incidence of major congenital anomalies to about:  6% in 2-year-olds  8% in 5-year-olds  Approximately 2% additional anomalies are detected later (e.g., during surgery, dissection, or autopsy)
  • 199. Causes of congenital anomalies 1. Genetic factors – accounts for 13-15% 2. Environmental factors – accounts for 7-10% 3. Combination of genetic and environmental factors – account for 20-25%  Unknown factors – account for 50-60%
  • 200. Causes of congenital anomalies
  • 201. Genetic Factors  Could be: 1. Numerical chromosomal abnormalities  Involving changes in the number of chromosomes  Occur due to  failure of meiotic division to occur or  abnormal meiotic division during gametogenesis 2. Structural chromosomal abnormalities  Involving changes in the structure of chromosomes  Deletion, Translocation… 3. Mutations
  • 202. Numerical chromosomal abnormalities  May be: 1. Aneuploidy  Involves a specific chromosome  Caused by failure of separation of the chromosomal pair of the two chromatids of a chromosome during cell division as nondisjunction  Occur as hypodiploidy or hyperdiploidy 2. Polyploidy  Involves the whole set of chromosome  chromosome number is increased in a multiple of haploid (23) set of chromosomes  As triploidy & tetraploidy
  • 203.
  • 204.
  • 205. Hypodiploidy (Monosomy)  When one of the paired chromosomes is missing leading to monosomy  Could occur in the sex chromosomes or any of the autosomal chromosomes
  • 206. Monosomy in the sex chromosomes  Cause death in about 99% of the cases  In about 1% of the cases and when the present single chromosome is the X chromosome, the embryos survive and show Turner’s syndrome
  • 207. Turner’s syndrome  45, X0 chromosomes  Female phenotype  Gonadal dysgenesis and no ovary  Webbed neck  Lymphedema of the extrimities  Skeletal deformation, broad chest and short stature  Mental retardation
  • 209. Monosomy in the autosomal chromosomes  The embryo die leading to spontaneous abortion, and are not seen in the population
  • 210. Hyperdiploidy  Presence of extra chromosome(s) leading to trisomy, tetrasomy, etc. in a specific chromosome(s)  Most commonly involves trisomy of either the sex or autosomal chromosomes
  • 211. Trisomy in the sex chromosomes  Is common, but not usually detected until at the adolescence age  Could be: 1. 47, XXX • Is normal appearing and usually fertile female, but in about 15-25% may show mild mental retardation 2. 47, XYY  Is normal appearing male, but aggressive behaviour  Usually tall
  • 212. Trisomy in the sex chromosomes 3. 47, XXY  Is male and shows Klinefelter’s syndrome with: − Sterile with testicular atrophy and hyalinization of the seminiferous tubules and gynecomastia − Long lower limbs − Lower intelligence
  • 213. Trisomy in the autosomal chromosomes  Those seen include: 1. Trisomy of chromosome 21 About 75% will die and get aborted, 20% stillborn and remaining will cause the Down syndrome Increases with increasing maternal age Trisomy 21 occurs once in: 1100 births in mothers aged 25 years 350 births in mothers aged 35 years 25 births in mothers aged 45 years
  • 214. Incidence of Down Syndrome among neonates
  • 215. Down syndrome  Flat, broad face  oblique palpebral fissure  Furrowed lower lip  Short digits  Transverse palmar crease (simian crease)  Congenital heart malformations  Congenital heart defects
  • 217. Trisomy in the autosomal chromosomes  Those seen include: 2. Trisomy of chromosomes 13 (Patau syndrome) & 18 (Edwards syndrome)  Are less commonly seen because of presence of several malformations and usually die before reaching the age of 6th months.
  • 218. Polyploidy  Multiplication of the haploid chromosomes in sets and could be: 1. Triploidy with 3n (69 chromosomes)  May be caused by dispermy or failure of the separation of the 2nd polar body from the oocyte  results in spontaneous abortion of the conceptus or brief survival of live-born infant after birth 2. Tetraploidy with 4n (92 chromosomes)  Abort very early and not seen
  • 219. Mosaicism  Presence of two cell lines with two or more different genotypes, one normal and the other(s) defective  Could affect either autosomes or the sex chromosomes  Usually causes less serious anomalies than those of monosomy or trisomy for the defect is not fully expressed  Usually caused by nondisjunction during early cleavage of the zygote
  • 220. Structural chromosomal abnormalities  Mainly by breakage and reconstitution of chromosomes during meiotic division in abnormal combination as: − Inversion − Translocation − Deletion  Abnormalities caused depend on the fate of the broken piece, e.g., – Translocation of chromosome number 21 is the cause for 3-4% of the Down syndrome
  • 221. Structural chromosomal abnormalities  Deletion in the short arm of chromosome number 5 cause Cri du chat syndrome with:  weak cat-like cry  Microcephaly  Mental retardation  Congenital heart malformation
  • 222. Gene mutation  Permanent change in the sequence of genomic DNA, causing loss or change in the function of a gene as single gene mutation  Occur as:  Dominantly inheritable congenital anomalies Cause birth defects in a single (hetrozygous) dose  Recessively inheritable mutations Cause birth defect when occur in a double (homozygous) dose and rarely in a single (hetrozygous) dose
  • 223. Dominantly inheritable congenital anomalies  Achondroplasia  Homozygous mutant genes are fatal before or shortly after birth.  Hetrozygous cause: Short stature and limbs Normal length of the trunk Relatively large head Depressed nasal bridge
  • 224. Dominantly inheritable congenital anomalies  Polydactyly (extradigits)  By an autosomal dominant mutations in a variety of single genes
  • 225. Environmental factors (Teratogens)  Agents that cause or raise the incidence of congenital anomalies  Determined by the following three factors: 1. The developmental period First two weeks (predifferentiation or pregerm layer) Embryonic period Fetal period 2. Dose of the teratogen 3. Genotype of the embryo
  • 226. Effect of teratogens during the first 2 weeks  This is a period of predifferentiation or pregerm layer  Teratogens within this period interfere with cleavage, implantation and formation of the extraembryonic structures and could cause: a. Early death and spontaneous abortion, or b. Damage only to some of the cells. Remaining undamaged cells compensate for those loss and develop normally causing no congenital anomalies.
  • 227. Effect of teratogens during the embryonic period  This is organogenetic period  Disrupt organogenesis and cause birth defects, each tissue or organ showing its own critical period of susceptibility
  • 228. Effect of teratogens during the fetal period  This is a period of growth and maturation of organ systems  Teratogens cause only functional defects, such as mental retardation, and/ or minor congenital anomalies
  • 229. Environmental factors (Teratogens)  Dose of the teratogens  The severity of the birth defect is directly related to the dose of the teratogen  Genotype of the embryo  All genotypes are not equally susceptible to a specific teratogen causing congenital anomalies.
  • 230. Types of teratogens causing human birth defects 1. Infectious agents • Metabolic (Diseases) 2. Drugs and chemicals • Alcohol, Heroin, Narcotics, Nicotine 3. Radiations
  • 231. Metabolic Teratogens Rubella cardiovascular defects, deafness, blindness, slow growth of fetus Syphilis deafness, mental retardation, skin & bone lesions, meningitis Toxoplasmosis microcephaly, hydrocephaly, cerebral calcification, mental retardation Diabetes cardiac and skeletal malformations, central nervous system anomalies; increased risk of stillbirth Herpes Simplex skin lesions, encephalitis Mumps spontaneous abortion
  • 232. Chemical Teratogens Alcohol growth & mental retardation, microcephaly, facial and trunk malformations Chemotherapy major anomalies throughout body Diethylstilbestrol cervical and uterine abnormalities Lithium hearing anomalies Mercury mental retardation, cerebral atrophy, spasticity, blindness Streptomycin hearing loss, auditory nerve damage Tetracycline staining of tooth enamel and bones Thalidomine limb defects, cardiovascular anomalies
  • 233. Alcohol & Nicotine  The most common defect of addictive substances, including nicotine, is low birth weight  Infants born to addicted women will also be addicted.  Fetal Alcohol Syndrome  Growth deficiencies  Skeletal and facial deformities  Organ deformities: heart defects; genital malformations; kidney and urinary defects.  Central nervous system handicaps: small brain; mental retardation learning disabilities; hyperactivity, poor coordination.
  • 234. 286