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INTRODUCTION TO

DEVELOPMENTAL ANATOMY
Dr. Beda Olabu:
Basic Embryology Lecture Series
BASIC EMBRYOLOGY
Dr. Beda Olabu:
Basic Embryology Lecture Series
3 INTRODUCTION
Embryology* is the study of morphological changes
or processes that occur prenatally
Spans from gametogenesis until birth
Focusses on both the normal and the abnormal
developmental processes
Helps us to understand the anatomical basis of
congenital anomalies

Dr. Beda Olabu: Introduction to Embryology


INTRODUCTION
Overview of prenatal developmental periods:

Before conception: After conception:


Gametogenesis Pre-embryonic period
Fertilization Embryonic period
Foetal period
Dr. Beda Olabu: Introduction to Embryology
5 INTRODUCTION
Basic embryology*
Focuses on the general principles of embryology and the
events of the early developmental stages

Systemic embryology*
Development of various body organs, according to their
organ systems

Dr. Beda Olabu: Introduction to Embryology


BASIC EMBRYOLOGY
Dr. Beda Olabu:
Basic Embryology Lecture Series
LECTURE SCOPE OF BASIC EMBRYOLOGY
1. Gametogenesis 7. Gastrulation & derivatives
2. Fertilization and its results of the three germ layers
3. Female reproductive 8. Neurulation process and
cycles* neural tube defects*
4. 1st week of development 9. Foetal membranes and
the placenta
5. Implantation & 2nd week
of development 10. Principles of teratology
6. Mechanisms of twinning 11. The foetal period

Dr. Beda Olabu: Basic Embryology


GAMETOGENESIS
Dr. Beda Olabu:
Basic Embryology Lecture Series
9 GAMETOGENESIS
Formation and development of the gametes

Occurs within the gonads (testis and ovary)

Spermatogenesis – Formation of sperms

Oogenesis – Formation of the ovum

Dr. Beda Olabu: Basic Embryology Series


10 LEARNING OUTCOMES
1. Explain the key steps in the process of spermatogenesis

2. Explain the key steps in the process of oogenesis

3. State the differences between spermatogenesis and


oogenesis

4. Highlight clinical disorders related to the process of


gametogenesis
Dr. Beda Olabu: Basic Embryology Series
PRIMORDIAL GERM CELLS
Embryonic cells that migrate into
the embryonic gonad during its
development
Become stem cells of gametes in
their respective gonads
PGCs are pluripotent cells that
arise from the walls of the yolk
sac and allantois

Dr. Beda Olabu: Basic Embryology Series


12 SPERMATOGENESIS
Occurs within the seminiferous
tubules of the testis
The process begins at puberty
Continues throughout life
It takes about 2 months to form
a single sperm
The most efficient temperature
for spermatogenesis is 34° C
The developing sperms are
supported by the Sertoli cells
Dr. Beda Olabu: Basic Embryology Series
Primordial germ cells
Within testis Differentiation

Spermatogonia Stem cells


Mitotic cell Spermatocytogenesis
divisions*

Primary spermatocytes Diploid


Meiotic cell Meiosis phase I
division* Meiosis phase II

Spermatids Haploid
Spermatids Haploid

Spermiogenesis

Spermatozoa
Spermiation
Storage

Decapacitation
Capacitation
15 PARTS OF A MATURE SPERM
A = Head
B = Neck
C = Acrosome
X = Middle piece
Y = Principle
piece
Z = End piece
Dr. Beda Olabu: Basic Embryology Series
16 COMMON SPERM DISORDERS
Determined by semen
analysis
1. Teratospermia
2. Aspermia
3. Hypospermia
4. Oligospermia
5. Azoospermia
6. Asthenozoospermia
Dr. Beda Olabu: Basic Embryology Series
17 OOGENESIS
Takes place in the ovarian
cortex
The process begins prenatally
for all the developing oocytes
Oocyte’s meiotic cell division is
however arrested at Prophase I
The meiotic division proceeds in
“monthly” cycles after puberty

Dr. Beda Olabu: Basic Embryology Series


18 OOGENESIS
Multiple oocytes are
stimulated each month

Development occurs
during the 1st half of
the woman’s cycle,
then ovulation occurs

Dr. Beda Olabu: Basic Embryology Series


19 OOGENESIS
The oocyte is surrounded by an increasing number of
supporting cells, termed the follicular cells
Primordial Germ Cells
Differentiation

Oogonia
Mitotic cell division

Primary oocytes
Surrounded by
the follicular cells

Formation of the
zona pellucida
Primary oocytes
1st Meiotic arrest [P1]
Meiosis I Birth → Puberty
Cyclic completion

Secondary oocytes
2nd Meiotic arrest [M2]
Meiosis II Ovulation occurs
Fertilization by a sperm

Mature ovum
PARTS OF THE MATURE (GRAAFIAN) FOLLICLE
1.Secondary oocyte
2.Zona pellucida
3.Corona radiata
4.Cumulus oophorous
5.Granulosa cells
6.Follicular antrum
7.Theca interna
What is corpus luteum?
Dr. Beda Olabu: Basic Embryology Series
23 THE CORPUS LUTEUM
Remnants of the mature
follicle after ovulation

Consists of Granulosa
lutein & theca lutein cells

Secrete progesterone
hormone
Dr. Beda Olabu: Basic Embryology Series
24
OVERVIEW OF GAMETOGENESIS
SPERMATOGENESIS:
Takes place in the testis
Begins after puberty and takes
about 2 months, at 34 degrees
Supported by the Sertoli cells
Primordial germ cells →
spermatogonia → primary
spermatocytes → secondary
spermatocytes → spermatids →
spermatozoa
Dr. Beda Olabu: Basic Embryology Series
25 OVERVIEW OF GAMETOGENESIS
OOGENESIS:
Takes place in the ovary
Begins prenatally but is arrested,
and is completed in cycles after
puberty
Ovum is surrounded by follicular
cells and the zona pellucida
Primordial germ cells → oogonia
→ primary oocyte → secondary
oocyte → ovum
Dr. Beda Olabu: Basic Embryology Series
26 CLASS DISCUSSION

Outline the differences between


oogenesis and spermatogenesis

Dr. Beda Olabu: Basic Embryology Series


27 CLASS DISCUSSION
SPERMATOGENESIS OOGENESIS
Starts at puberty Starts prenatally
No meiotic arrest Two meiotic arrests
Lasts about 2 months Lasts many years
Equal meiotic division Unequal meiotic division

4 viable cells 1 viable & polar bodies


28 CLASS DISCUSSION
SPERMATOGENESIS OOGENESIS
Meiosis complete Meiosis incomplete
Both X & Y types Only X type
Motile cells Immotile cells
Continuous Cyclic (monthly)
Throughout life Stops at menopause
29 CLINICAL CORRELATION
What would happen if PGCs do not migrate into the
developing gonad?

Teratomas:
Germ cell tumors arising from
ectopic pluripotent stem cells

Contain multiple tissue lines

Dr. Beda Olabu: Basic Embryology Series


FERTILIZATION
Dr. Beda Olabu:
Basic Embryology Lecture Series
31 LEARNING OUTCOMES
1. Define fertilization and state where it occurs

2. Explain the sequence of events during the


process of fertilization

3. State the various outcomes of fertilization

4. Highlight the common clinical correlations


Dr. Beda Olabu: Basic Embryology Series
32
FERTILIZATION
Fusion of the sperm & the
ovum to form the zygote

Occurs in the ampulla of the


Fallopian tube

Illustrate parts of the Fallopian


tube using a diagram*
Dr. Beda Olabu: Basic Embryology Series
33
PARTS OF THE FALLOPIAN TUBE
UTERUS UTERINE TUBE (OVIDUCT)
Fundus

Isthmus Ampulla
Body Intramural
segment
Infundibulum
Cervix Fimbria
34 THE PROCESS OF FERTILIZATION
1. Capacitation

2. Acrosome reaction

3. Penetration of the
oocyte coats

4. Zona reaction
Dr. Beda Olabu: Basic Embryology Series
35 FUNCTIONS OF ZONA PELLUCIDA

1. Prevents polyspermy

2. Ensures species specificity

3. Protects the oocyte

Dr. Beda Olabu: Basic Embryology Series


36 THE PROCESS OF FERTILIZATION
Only the head enters……….

5. Fusion of cell membranes

6.Completion of the oocyte


2nd meiotic division

7. Fusion of the male and the


female pronuclei
Dr. Beda Olabu: Basic Embryology Series
37 YOU WERE BORN A WINNER!
SUMMARY OF THE PROCESS OF FERTILIZATION
Process of fusion of the sperm
and the ovum
Occurs in the ampulla of the
Fallopian tube
Sperm penetrates the oocyte
coverings, then its nucleus fuses
with nucleus of the oocyte
The resultant new cell is called
the zygote
Dr. Beda Olabu: Basic Embryology Series
39 OUTCOME OF FERTILIZATION
1. Formation of the zygote from the ootid stage
2. Completion of oocyte 2nd meiotic division and
formation of the 2nd polar body
3. Restoration of the diploid (2n) number of chromosomes
4. Determination of embryonic sex (XX or XY genotype)
5. Genetic variation (variation of species)
6. Metabolic activation and restoration of capacity for
cell division (cleavage)
Dr. Beda Olabu: Basic Embryology Series
40 CLINICAL CORRELATION
1. Contraception

2. Assisted reproductive technology

3. Numerical chromosomal disorders

4. Polyspermy and molar pregnancy


Dr. Beda Olabu: Basic Embryology Series
41 CONTRACEPTIVE METHODS
1. Sterilization - BTL, vasectomy
2. Hormonal methods
3. Intrauterine contraceptive devices (IUCD)
4. Fertility awareness-based (natural) methods
5. Barrier methods
6. Emergency/postcoital contraception
7. Coitus interruptus
8. Lactation
Dr. Beda Olabu: Basic Embryology Series
42 NORMAL HUMAN KARYOTYPES
46XX = Female Karyotype 46XY = Male Karyotype

Dr. Beda Olabu: Basic Embryology Series


NUMERICAL CHROMOSOMAL DISORDERS
43

Trisomy 21: Down’s Syndrome 47XXY: Klinefelter’s Syndrome

Dr. Beda Olabu: Basic Embryology Series


NUMERICAL CHROMOSOMAL DISORDERS
44

45X0: Tuner’s Syndrome 47XXX = Triple X Syndrome

Dr. Beda Olabu: Basic Embryology Series


NUMERICAL CHROMOSOMAL DISORDERS
45

Trisomy 18: Edward’s Syndrome Trisomy 13: Patau Syndrome

Dr. Beda Olabu: Basic Embryology Series


46 MOLAR PREGNANCY
Occurs when there is an
“excess set” of paternal
chromosomes

Abnormal “vesicular”
proliferation of placental tissues

Also called hydatidiform mole

Dr. Beda Olabu: Basic Embryology Series


FEMALE REPRODUCTIVE
CYCLES
Dr. Beda Olabu:
Basic Embryology Lecture Series
48
INRODUCTION
Hormonally regulated “monthly” cycles

✓Gonadotropic hormones (from pituitary)

✓Ovarian hormones

Involves changes in the endometrium as


well as the ovary
Dr. Beda Olabu: Basic Embryology Series
49 LEARNING OUTCOMES
1. State the effects of FSH & LH on the ovary

2. Name the phases of the ovarian cycle and state


their hormonal basis

3. Name the phases of the endometrial cycle and state


their hormonal basis of each

4. Understand the concept of safe days and its basis


Dr. Beda Olabu: Basic Embryology Series
0 4 8 12 16 20 24 28 4

50
FSH FSH
Pituitary hormones

Folliculogenesis Corpus luteum


Ovarian events
Follicular Ovulatory Luteal
phase phase phase
Estrogen Progesterone
Ovarian hormones secretion secretion
Estrogen phase Progesterone phase

Thickening Glands
Endometrial events Proliferative Secretory Menstrual
phase phase phase
51 FEMALE REPRODUCTIVE CYCLES

OVARIAN CYCLES:

Follicular phase

Ovulatory phase

Luteal phase
Dr. Beda Olabu: Basic Embryology Series
52 FEMALE REPRODUCTIVE CYCLES

ENDOMETRIAL CYCLES:

Proliferative phase

Secretory phase

Menstrual phase

Dr. Beda Olabu: Basic Embryology Series


53 FEMALE REPRODUCTIVE CYCLES

HORMONAL CYCLES:

Estrogen phase

Progesterone phase

Dr. Beda Olabu: Basic Embryology Series


54 THE CONCEPT OF SAFE DAYS

Dr. Beda Olabu: Basic Embryology Series


EARLY EMBRYONIC PERIOD
FIRST TWO WEEKS OF DEVELOPMENT and
IMPLANTATION

Dr. Beda Olabu:


Basic Embryology Lecture Series
INTRODUCTION
Prenatal developmental periods:
Before conception: After conception:
Gametogenesis Pre-embryonic period

Fertilization Embryonic period

Foetal period
Dr. Beda Olabu: Basic Embryology Series
INTRODUCTION
Pre-embryonic period of development:
1. The 1st 14 days (2 weeks) after conception

2. Formation & differentiation of embryonic and


trophoblastic (placental) tissues

3. Implantation and establishment of pregnancy


Dr. Beda Olabu: Basic Embryology Series
LEARNING OUTCOMES
1. Explain the events and morphological changes that
occur during the 1st week of development

2. Describe the process of implantation and state the


common disorders related to this

3. Outline the events that occur in the 2nd week of and


explain the concept of the “week of twos”
Dr. Beda Olabu: Basic Embryology Series
1ST WEEK OF DEVELOPMENT
Occurs largely along
the Fallopian tube

Day 1 – 4/5: Within the


Fallopian tube

From day 5/6: In the


endometrial cavity
Dr. Beda Olabu: Basic Embryology Series
1ST WEEK OF DEVELOPMENT

The conceptus:
1. Is propelled towards the
endometrial cavity

2. Undergoes cleavage &


morphological changes

Dr. Beda Olabu: Basic Embryology Series


1 ST WEEK OF DEVELOPMENT
DAY 1 DAY 1-2 DAY 3-4

Cleavage Cleavage

Compaction
OOTID 2 CELLS 12-32 CELLS

ZYGOTE 2-CELL MORULA


STAGE STAGE STAGE
1 ST WEEK OF DEVELOPMENT
DAY 3-4 DAY 5-6

Cleavage & Compaction

Cavity formation
Fluid accumulation
12-32 CELLS CAVITY PRESENT

MORULA BLASTOCYST
STAGE STAGE
1 ST WEEK OF DEVELOPMENT
DAY 5-6 THE BLASTOCYST STAGE DAY 6-8
Hatching Process

EARLY LATE
BLASTOCYST Dr. Beda Olabu: Basic Embryology Series
BLASTOCYST
SUMMARY OF THE 1ST WEEK
1. Movement of the conceptus towards the endometrial
cavity (site of implantation)

2. Continuous cleavage & compaction, then hatching

3. Zygote → Two-cell stage → Morula → Blastocyst

4. Ends when the embryblastic and trophoblastic tissues


(inner and outer cell masses) have been established
Dr. Beda Olabu: Basic Embryology Series
PARTS OF THE BLASTOCYST
Individual cells of the blastocyst are termed blastomeres
2ND WEEK OF DEVELOPMENT
1. Implantation of the blastocyst

2. Differentiation of the embryoblastic and the


trophoblastic tissues

3. Establishment of the foetal membranes

………………..The “week of twos”………………….


Dr. Beda Olabu: Basic Embryology Series
IMPLANTATION
The process by which the blastocyst attaches and
embeds itself into the endometrial lining of uterine wall

Invasion of the endometrium by the blastocyst is done


by the trophoblast layer; between day 6-13

Site of implantation determines site of placentation

Commonest site = Posterior aspect of uterine fundus


Dr. Beda Olabu: Basic Embryology Series
RELEVANT ANATOMY OF THE UTERUS
PARTS OF THE UTERUS LAYERS OF THE UTERINE WALL
LUMEN

ENDOMETRIUM STRATUM
FUNCTIONALIS

STRATUM BASALE

MYOMETRIUM

PERIMETRIUM
IMPLANTATION PROCESS
Hatching of the blastocyst Attachment of the blastocyst

Dr. Beda Olabu: Basic Embryology Series


IMPLANTATION PROCESS
Formation of the Burrowing & embedding,
syncitiotrophoblast layer guided by the trophoblast

Dr. Beda Olabu: Basic Embryology Series


IMPLANTATION PROCESS
Trophoblastic lacunae Closure and repair of the
formation epithelial defect

Dr. Beda Olabu: Basic Embryology Series


ABNORMALITIES OF IMPLANTATION
Ectopic gestation:
1. Ovarian

2. Abdominal

3. Tubal (commonest)

4. Cervical
Dr. Beda Olabu: Basic Embryology Series
ABNORMALITIES OF IMPLANTATION
Placenta previa:
Low lying placenta

Placenta detaches before


delivery of the baby

Risk of bleeding & still birth

Dr. Beda Olabu: Basic Embryology Series


ABNORMALITIES OF IMPLANTATION
Excess penetration/invasion into the uterine wall:

Dr. Beda Olabu: Basic Embryology Series


THE CONCEPT OF THE “WEEK OF TWOS”
THE EXTRAEMBRYONIC MESODERM

Dr. Beda Olabu: Basic Embryology Series


THE EXTRAEMBRYONIC MESODERM

Dr. Beda Olabu: Basic Embryology Series


THE CHORIONIC PLATE
COMPONENTS:
1. Extraembryonic
mesoderm

2. Cytotrophoblast

3. Syncitiotrophoblast
Dr. Beda Olabu: Basic Embryology Series
TWO PARTS OF THE CHORIONIC LAYER
Chorion frondosum & chorion laeve

Dr. Beda Olabu: Basic Embryology Series


“WEEK OF TWOS”
2 Cell masses

2 poles

2 Embryonic layers

2 Cavities

2 Trophoblastic layers

Dr. Beda Olabu: Basic Embryology Series


SUMMARY OF THE MORPHOLOGICAL STAGES OF THE
CONCEPTUS DURING THE 1ST TWO WEEKS

ZYGOTE 2-CELL MORULA BLASTOCYST BILAMINAR


STAGE STAGE STAGE STAGE DISC STAGE

Dr. Beda Olabu: Basic Embryology Series


ABNORMALITIES OF THE 2ND WEEK
Blighted ovum (abembryonic pregnancy)

Dr. Beda Olabu: Basic Embryology Series


Dr. Beda Olabu: Basic Embryology Series
ABNORMALITIES OF THE 2 ND WEEK
Hydatidiform mole (Molar pregnancy)

Dr. Beda Olabu: Basic Embryology Series


84
MOLAR PREGNANCY
Occurs when there is an
“excess set” of paternal
chromosomes

Abnormal “vesicular”
proliferation of placental
tissues

Dr. Beda Olabu: Basic Embryology Series


MULTIPLE GESTATION
FOCUS ON MECHANISMS and TYPES OF TWIN
PREGNANCIES

Dr. Beda Olabu:


Basic Embryology Lecture Series
MULTIPLE PREGNANCIES
oTwins, Triplets, Quadruplets, Quintuplets

Types of twin gestations:


1. Dizygotic

2. Monozygotic
Dr. Beda Olabu: Basic Embryology Series
DYZYGOTIC TWINNING
Two ova are ovulated, & subsequently fertilized by
different sperms

Hence development begin by two zygotes

The twins are genetically different (Fraternal)

Constitute the majority of twin gestations


Dr. Beda Olabu: Basic Embryology Series
DYZYGOTIC TWINNING
Superfecundation:
Fertilization of two or more
ova from the same cycle
by sperms from separate
acts of sexual intercourse

Dr. Beda Olabu: Basic Embryology Series


MONOZYGOTIC TWINNING
An ovum is fertilized by one sperm and development
starts with 1 zygote, hence are termed monozygotic
Separation of the early embryonic cells then occurs
The splitting of embryonic cells is only possible up to
day15
Twins are classified based on the structures they share

Dr. Beda Olabu: Basic Embryology Series


STAGES OF EARLY DEVELOPMENT

ZYGOTE 2-CELL MORULA BLASTOCYST BILAMINAR


STAGE STAGE STAGE STAGE DISC STAGE

Dr. Beda Olabu: Basic Embryology Series


DICHORIONIC-DIAMNIOTIC TWINS

Separate Separate
placentas amniotic sacs
DICHORIONIC-DIAMNIOTIC TWINS

Separate Separate
placentas amniotic sacs
MONOCHORIONIC-DIAMNIOTIC TWINS

Shared Separate
placenta amniotic
sacs
MONOCHORIONIC-MONOAMNIOTIC TWINS

Shared placenta and


amniotic sac
REVIEW OF STAGES OF EARLY DEVELOPMENT

PRIMITIVE STREAK
STAGE
CONJOINED (SIAMESE) TWINS

Separation at the primitive streak stage


(hence partial splitting of the cells of the
primitive streak)

The twins will share some body organs

All are monochorionic-monoamniotic types


Dr. Beda Olabu: Basic Embryology Series
CONJOINED (SIAMESE) TWINS
Classified according to body regions shared/fused
Craniopagus Thoracopagus
CONJOINED (SIAMESE) TWINS
Omphalopagus Pygopagus
COMPLICATIONS OF MULTIPLE GESTATION

1. Conjoined twins

2. Prematurity

3. Low birth weight

4. Parasitic twins
Dr. Beda Olabu: Basic Embryology Series
COMPLICATIONS OF MULTIPLE GESTATION
Parasitic twins

Dr. Beda Olabu: Basic Embryology Series


COMPLICATIONS OF MULTIPLE GESTATION

5. Twin to twin transfusion syndrome


COMPLICATIONS OF MULTIPLE GESTATION
6. Intrauterine demise of one twin
Fetus Papyraceus Vanishing twin

Dr. Beda Olabu: Basic Embryology Series


GASTRULATION
FOCUS ON THE TRILAMINAR EMBRYONIC DISC

Dr. Beda Olabu:


Basic Embryology Lecture Series
INTRODUCTION
The process of formation of a three layered
embryo (the gastrula or trilaminar germ disc)

The three embryonic layers are: ectoderm,


mesoderm & endoderm

Takes place during the 3rd week of development

Dr. Beda Olabu: Basic Embryology Series


INTRODUCTION
Events of the third week of development set stage for
the period of organogenesis
Occasionally referred to as the “week of threes”:
1. Three embryonic layers develop from the epiblast
2. Three embryonic structures are formed: The primitive
streak, notochord and neural tube
3. Three mesodermal segments develop – the paraxial,
intermediate and lateral plate mesoderm

Dr. Beda Olabu: Basic Embryology Series


LEARNING OUTCOMES
1. State the formation, functions and fate of the
primitive streak

2. The events during the process of gastrulation

3. Outline the adult derivatives of each of the


three germ layers
Dr. Beda Olabu: Basic Embryology Series
THE PRIMITIVE STREAK
Formed by proliferation of the midline epiblast cells
Around the caudal end of the bilaminar embryo

Dr. Beda Olabu: Basic Embryology Series


PARTS OF THE PRIMITIVE STREAK

Primitive groove

Primitive node

Primitive pit

Dr. Beda Olabu: Basic Embryology Series


FUNCTIONS OF THE PRIMITIVE STREAK

1. Provide structural support to the bilaminar


embryonic disc

2. Establishes the embryonic axis and bilateral


symmetry

3. Direct the process of gastrulation

Dr. Beda Olabu: Basic Embryology Series


FATE THE PRIMITIVE STREAK
The primitive streak degenerates (disappears)

What would happen if these


totipotent cells persist?

Sacrococcygeal teratoma

Contain multiple tissue lines


Dr. Beda Olabu: Basic Embryology Series
GASTRULATION
The process of formation
of the trilaminar disc
(gastrula)
The cells of primitive streak
migrate downwards and
outwards
The cellular migration
occurs in 2 phases:

Dr. Beda Olabu: Basic Embryology Series


GASTRULATION PROCESS
1st phase of migration:
Displace the hypoblast
layer of cells laterally
Becomes the endodermal
layer
Extends laterally to even
form the lining of the yolk
sac
Dr. Beda Olabu: Basic Embryology Series
GASTRULATION PROCESS
2nd phase of migration:
The cells sandwich themselves
between the formed endoderm
& the remaining epiblast cells

Become the mesodermal layer

This later divides into three


Dr. Beda Olabu: Basic Embryology Series
GASTRULATION PROCESS
Remaining epiblast constitute
the ectodermal layer

The structure is now called


gastrula (trilaminar germ disc)

All its layers arise from the


epiblast layer
Dr. Beda Olabu: Basic Embryology Series
SUMMARY OF GASTRULATION
Ectoderm, mesoderm & endoderm

Dr. Beda Olabu: Basic Embryology Series


DERIVATIVES OF THE GERM LAYERS
1. Ectoderm layer:
Protecting & communicating
layer
Differentiates into two parts:
1. Neuroectoderm: Nervous
system (both PNS & CNS)
2. Surface ectoderm: epidermis
of the skin
Dr. Beda Olabu: Basic Embryology Series
DERIVATIVES OF THE GERM LAYERS
2. Endoderm layer:
A nourishing layer
Becomes incorporated into
the embryo during folding
Constitutes the lining of the
primordial gut
Gives rise to epithelial lining &
glands of digestive &
respiratory systems
Dr. Beda Olabu: Basic Embryology Series
DERIVATIVES OF THE GERM LAYERS
Differentiation of the mesoderm layer:

Dr. Beda Olabu: Basic Embryology Series


DERIVATIVES OF THE GERM LAYERS
3. Mesoderm layer:
(a) Paraxial mesoderm
Undergoes segmentation to
form the somites
Somites differentiate into:
1. Sclerotome: Axial skeleton
2. Myotome: Skeletal muscles
3. Dermatome: Trunkal dermis

Dr. Beda Olabu: Basic Embryology Series


DERIVATIVES OF THE GERM LAYERS
3. Mesoderm layer:
(b) Intermediate mesoderm

Urinary system

Reproductive system

Dr. Beda Olabu: Basic Embryology Series


DERIVATIVES OF THE GERM LAYERS
3. Mesoderm layer:
(c) Somatic mesoderm

Appendicular skeleton

Dermis

Dr. Beda Olabu: Basic Embryology Series


DERIVATIVES OF THE GERM LAYERS
3. Mesoderm layer:
(d) Splanchnic mesoderm

Smooth musculature

Cardiac musculature

Visceral C.T
Dr. Beda Olabu: Basic Embryology Series
THE GERM LAYERS & THEIR DERIVATIVES

Dr. Beda Olabu: Basic Embryology Series


GASTRULATION DISORDERS
Caudal dysgenesis (Sirenomelia)
NEURULATION
FOCUS ON FORMATION OF THE NEURAL
TUBE & NEURAL TUBE DEFECTS

Dr. Beda Olabu:


Basic Embryology Lecture Series
INTRODUCTION
Neurulation is the process of formation of the neural
tube
The neural tube is the primordium of the central
nervous system – brain and spinal cord
Occurs during the 3rd to 4th week of development
There is primary and secondary neurulation processes

Dr. Beda Olabu: Basic Embryology Series


LEARNING OUTCOMES
1. State the formation, functions and fate of
notochord

2. Describe the process of primary and secondary

3. Highlight on the common neural tube defects

4. Outline the derivatives of the neural crest cells


Dr. Beda Olabu: Basic Embryology Series
THE NOTOCHORD
Special cartilaginous
structure

Lies within the midline


of mesoderm layer

Dr. Beda Olabu: Basic Embryology Series


FUNCTIONS OF THE NOTOCHORD

1. Provide structural support

2. Define the embryonic axis

3. Induce neurulation

4. Basis for axial skeleton


Dr. Beda Olabu: Basic Embryology Series
FATE OF THE NOTOCHORD
Degenerates

Form the nucleus


pulposus of the
intervertebral discs

If it fails to degenerate?


Dr. Beda Olabu: Basic Embryology Series
CHORDOMAS

Dr. Beda Olabu: Basic Embryology Series


NEURULATION
Process of formation of
the neural tube

Primordium of CNS

Leads to formation of
neural tube & neural crest

Primary & secondary…..


Dr. Beda Olabu: Basic Embryology Series
NEURULATION
Process of formation of
the neural tube

Primordium of CNS

Leads to formation of
neural tube & neural crest

Primary & secondary…..


Dr. Beda Olabu: Basic Embryology Series
PRIMARY NEURULATION
Neurulation by notochordal induction
Involves the cranial ectoderm
SECONDARY NEURULATION
Neurulation by mesenchymal condensation
Forms the caudal neural tube (without neural plate)
NEURULATION PROCESS
The notochord induces the overlying ectoderm to
form neuroectoderm (and surface ectoderm)
OVERVIEW OF NEURULATION PROCESS
Induction by the notochord
Form the neuroectoderm &
surface ectoderm
Thickening (= neural plate)
Neural groove & neural folds
Fusion to form the neural tube
(and neural crest)

Dr. Beda Olabu: Basic Embryology Series


OVERVIEW OF NEURULATION PROCESS
Induction by the notochord
Form the neuroectoderm &
surface ectoderm
Thickening (= neural plate)
Neural groove & neural folds
Fusion to form the neural tube
(and neural crest)

Dr. Beda Olabu: Basic Embryology Series


NEURAL TUBE DEFECTS
NEURAL TUBE DEFECTS
NEURAL TUBE DEFECTS
NEURAL CREST DERIVATIVES
In the peripheral nervous
system
In the integument system
In the endocrine system
In the heart
In the craniofacial region

Dr. Beda Olabu: Basic Embryology Series


ANOMALIES ASSOCIATED WITH NEURAL
CREST CELLS
1. Congenital aganglionic megacolon

2. Disorders of skin pigmentation

3. 1st pharyngeal arch syndromes

4. Cardiac malformations
Dr. Beda Olabu: Basic Embryology Series
FOETAL MEMBRANES
AMNION, YOLK SAC, ALLANTOIS & CHORION

Dr. Beda Olabu:


Basic Embryology Lecture Series
INTRODUCTION
Structures that cover
the foetus
Are of zygotic origin
Part of the POCs
Are extraembryonic
Dr. Beda Olabu: Basic Embryology Series
INTRODUCTION
FOUR COMPONENTS:
1. Amnion
2. Yolk sac
3. Allantois
4. Chorion
Dr. Beda Olabu: Basic Embryology Series
LEARNING OUTCOMES
For each foetal membrane, state:
1. When and how the membrane is formed

2. The roles/functions of the foetal membrane

3. The eventual fate of the foetal membrane

4. Clinical aspects regarding the foetal membrane


Dr. Beda Olabu: Basic Embryology Series
THE AMNION
Forms in the ICM during the 2nd
week of development

By migration of the amnioblast


cells from the epiblast layer

Secrete (amniotic) fluid into


the amniotic cavity
Dr. Beda Olabu: Basic Embryology Series
THE AMNIOTIC SAC
The size increases as the pregnancy advances

Dr. Beda Olabu: Basic Embryology Series


SOURCES OF AMNIOTIC FLUID

EARLY SOURCES: LATER SOURCES:


Secretions of amnioblast Fetal urine

cells Foetal secretions: from

Maternal tissue fluid (by foetal skin, lungs and GIT

diffusion)
Dr. Beda Olabu: Basic Embryology Series
Amnioblast Maternal Foetal Foetal
Cells Fluid Urine Secretions

AMNIOTIC
AMNIOTIC FLUID FLUID CIRCULATION
WITHIN THE AMNIOTIC CAVITY
Foetal swallowing Foetal urine
Intestinal absorption Foetal kidneys

FLUID WITHIN FOETAL BLOOD CIRCULATION


Umbilical vein Umbilical arteries

PLACENTAL CIRCULATION
FUNCTIONS OF THE AMNIOTIC FLUID
Protective/shock Permit symmetrical growth
absorption of the foetus
Lubricates the fetal skin Thermoregulation
to prevent drying
Lubricate the birth canal
Musculoskeletal
Promote expansion of the
development
lung alveoli
Dr. Beda Olabu: Basic Embryology Series
FATE OF THE AMNION
Tears around the time of delivery during

“rupture of membranes”

The membrane is expelled “after birth”

together with the placenta


Dr. Beda Olabu: Basic Embryology Series
CLINICAL CORRELATIONS
1. Amniocentesis

2. Oligohydramnios

3. Polyhydramnios

4. Amniotic band disruption syndrome (ABDS)

Dr. Beda Olabu: Basic Embryology Series


AMNIOCENTESIS
Obtaining
amniotic fluid for
testing

Screening for
fetal anomalies

Dr. Beda Olabu: Basic Embryology Series


OLIGOHYDRAMNIOS
Amniotic fluid volume is
less than expected for the
gestational age

Often less than 500mL

List possible causes of


oligohydramnios
Dr. Beda Olabu: Basic Embryology Series
CAUSES OF OLIGOHYDRAMNIOS (DRIPPC)
Demise/Drugs
Renal abnormalities (hence reduced urine output):
agenesis, dysplasia, cystic kidney diseases, PUVs,
urethral atresia
Intra-uterine growth restriction (IUGR)
Premature rupture of membranes (PROM & PPROM)
Placental insufficiency
Chromosomal anomalies: Trisomy 13; Trisomy 18
Dr. Beda Olabu: Basic Embryology Series
COMPLICATIONS OF OLIGOHYDRAMNIOS

1. Pulmonary
hypoplasia

2. Foetal limb
anomalies

3. Foetal demise
Dr. Beda Olabu: Basic Embryology Series
POLYHYDRAMNIOS
Amniotic fluid volume is
more than expected for
the gestational age

Generally AFI >25 cm

List possible causes of


polyhydramnios
Dr. Beda Olabu: Basic Embryology Series
CAUSES OF POLYHYDRAMNIOS
Categories: Common foetal causes:
More than 50% is CNS anomalies
idiopathic Anomalies that lead to
gastrointestinal obstruction
Maternal causes: DM,
Multiple pregnancy
CCF
Cardiac anomalies
Multiple foetal causes: Trisomy 21(or 18 and 13)

Dr. Beda Olabu: Basic Embryology Series


COMPLICATIONS OF POLYHYDRAMNIOS
AMNIOTIC BAND SYNDROME
Comprises a wide spectrum
of abnormalities

Result from entrapment of


various fetal body parts in a
disrupted amnion

Multiple defects can occur


Dr. Beda Olabu: Basic Embryology Series
AMNIOTIC BAND SYNDROME

Dr. Beda Olabu: Basic Embryology Series


AMNIOTIC BAND SYNDROME

Dr. Beda Olabu: Basic Embryology Series


YOLK SAC (UMBILICAL VESICLE)
Formed in the 2nd week of
development

By migrating cells from the


hypoblast layer

Later by endodermal cells

Dr. Beda Olabu: Basic Embryology Series


FUNCTIONS OF THE YOLK SAC

Early nutrient supply

Site of early hemopoiesis

Gives rise to the PGCs


(primordial germ cells)

Dr. Beda Olabu: Basic Embryology Series


OVERVIEW OF EMBRYONIC FOLDING
The embryo folds both longitudinally (cranio-caudal axis)
and laterally (transverse axis)

As the embryo folds, the dorsal part of the yolk sac is
longitudinally incorporated into the developing baby

Discuss with your neighbor the key outcomes of each of


the embryonic folding processes
Dr. Beda Olabu: Basic Embryology Series
OUTCOME OF EMBRYONIC FOLDING
Transverse embryonic folding:

Dr. Beda Olabu: Basic Embryology Series


OUTCOME OF EMBRYONIC FOLDING
Cranio-caudal embryonic folding:

Dr. Beda Olabu: Basic Embryology Series


THE FATE OF THE YOLK SAC

Dr. Beda Olabu: Basic Embryology Series


FATE OF THE YOLK SAC
Dorsal part is incorporated
into the embryo during
folding (to become the
primordial gut)

Ventral part degenerates

Dr. Beda Olabu: Basic Embryology Series


FATE OF THE VITELLINE DUCT

Dr. Beda Olabu: Basic Embryology Series


YOLK SAC: CLINICAL CORRELATES
Vitelline duct anomalies

Meckel’s diverticulum Vitelline fistula Vitelline cyst Fibrous cord


Dr. Beda Olabu: Basic Embryology Series
THE ALLANTOIS
An extension of the yolk sac,
into the connecting stalk

Similar functions as yolk sac*

Contribute to formation of
the umbilical vessels

Dr. Beda Olabu: Basic Embryology Series


FATE OF THE ALLANTOIS
Lower part incorporated to
form the urinary bladder

Upper part degenerates as


the urachus

Becomes the median


umbilical ligament

Dr. Beda Olabu: Basic Embryology Series


CLINICAL CORRELATIONS
Persistence of the
allantois lead to
Urachal anomalies

Commoner types are:

Urachal fistulas

Urachal cysts
Dr. Beda Olabu: Basic Embryology Series
THE CHORIONIC PLATE
COMPONENTS:
1. Extraembryonic
mesoderm (somatic L)

2. Cytotrophoblast

3. Syncitiotrophoblast
Dr. Beda Olabu: Basic Embryology Series
TWO PARTS OF THE CHORION
Chorion frondosum & chorion laeve

Dr. Beda Olabu: Basic Embryology Series


FUNCTIONS OF THE CHORION
Chorion frondosum forms the
foetal component of the
placenta

Chorion protects the embryo

Haemopoietic centre

Dr. Beda Olabu: Basic Embryology Series


CLINICAL UTILITY OF THE CHORION
For diagnosis of early
pregnancy:
1. Laboratory detection of
beta hCG (from urine or
blood samples)
2. Sonographic visualization
of the gestational sac
(chorionic cavity)

Dr. Beda Olabu: Basic Embryology Series


CLINICAL UTILITY OF THE CHORION
For diagnosis of an
early pregnancy:
1. Laboratory detection of
beta hCG (from urine or
blood samples)
2. Sonographic visualization
of the gestational sac
(chorionic cavity)

Dr. Beda Olabu: Basic Embryology Series


CLINICAL UTILITY OF THE CHORION
Chorionic villous sampling:

Dr. Beda Olabu: Basic Embryology Series


THE PLACENTA
A fetomaternal
organ
Foetal: Chorionic
frondosum
Maternal part:
Decidua basalis

Dr. Beda Olabu: Basic Embryology Series


FUNCTIONS OF THE PLACENTA

Exchange – Oxygen, carbon dioxide, nutrients,

antibodies

Endocrine – hCG, estrogen, progesterone, hPL

Metabolic – Glycogen
Dr. Beda Olabu: Basic Embryology Series
STRUCTURAL ANOMALIES OF THE PLACENTA
Excess penetration/invasion into the uterine wall:

Dr. Beda Olabu: Basic Embryology Series


STRUCTURAL ANOMALIES OF THE PLACENTA
Placenta Battledore Bi-lobed
Previa Placenta Placenta

Dr. Beda Olabu: Basic Embryology Series


STRUCTURAL ANOMALIES OF THE PLACENTA
Circumvallate Placenta Placenta
Placenta Velamentosa Succenturiata

Dr. Beda Olabu: Basic Embryology Series


FOETAL PERIOD OF DEVELOPMENT
FOCUS ON THE 9TH WEEK UNTIL BIRTH

Dr. Beda Olabu:


Basic Embryology Lecture Series
INTRODUCTION
Prenatal developmental periods:

Before conception: After conception:


Gametogenesis Pre-embryonic period
Fertilization Embryonic period
Foetal period
Dr. Beda Olabu: Basic Embryology Series
LEARNING OUTCOMES
1. Main characteristics of the foetal period

2. Methods of assessing foetal growth

3. Prenatal diagnosis of birth defects

4. Key features in various foetal periods

5. Factors which influence foetal growth


Dr. Beda Olabu: Basic Embryology Series
CHARACTERISTICS OF THE FOETAL PERIOD
1. Rapid growth of the body organs
✓ 1st trimester – hyperplasia
✓ 2nd trimester – hyperplasia & hypertrophy
✓ 3rd trimester – hypertrophy
2. Marked increase in height and weight
✓ In the 3rd trimester, weight triples and length doubles
as body stores of protein, fat, iron and calcium increase

Dr. Beda Olabu: Basic Embryology Series


CHARACTERISTICS OF THE FOETAL PERIOD
3. Ossification

4. Fat deposition

Dr. Beda Olabu: Basic Embryology Series


CHARACTERISTICS OF THE FOETAL PERIOD
5. Reduced head dominance (compared to the rest
of the body)

Dr. Beda Olabu: Basic Embryology Series


WEEK 9 – 12 OF DEVELOPMENT
Ossification centers for long bones and cranium appear
Head is ½ of the crown heel length
Face is recognizably human
Hepatosplenic phase of hemopoiesis
Intestines return to the abdomen
Urine formation
Gender of the external genital becomes distinguishable

Dr. Beda Olabu: Basic Embryology Series


WEEK 13 – 16 OF DEVELOPMENT
Rapid growth occurs
Ossification is active
Head becomes relatively small compared to the 12th
week fetus: longer limbs
Face changes: eyes are anterolateral, ears almost in
place
14 weeks:
 Limb movements are coordinated
Slow eye movements

Dr. Beda Olabu: Basic Embryology Series


WEEK 13 – 16 OF DEVELOPMENT
Rapid growth occurs
Ossification is active
Head becomes relatively small
compared to the 12th week fetus: longer
limbs
Face changes: eyes are anterolateral,
ears almost in place
Limb movements are coordinated
Slow eye movements

Dr. Beda Olabu: Basic Embryology Series


WEEK 17 – 20 OF DEVELOPMENT
Growth slows
Fetal movements can be felt by
mother
Skin covered by vernix caseosa
Uterus formed, vagina canalized
Eye brows and head hair visible
Fetal skin covered by lanugo
Brown fat is formed (site of heat
production)
Descent of the testes

Dr. Beda Olabu: Basic Embryology Series


WEEK 21 – 25 OF DEVELOPMENT
Weight gain occurs
Wrinkled skin, translucent
Skin is pink
Rapid eye movements; Blink startle 21-23 weeks
Finger-nails present
Type II pneumocytes start to secrete surfactant

Dr. Beda Olabu: Basic Embryology Series


WEEK 26 – 29 OF DEVELOPMENT
Lungs and pulmonary vasculature adequately formed
CNS can regulate body temperature and breathing
Eyelids open at 26 weeks
Toe nails are visible
Subcutaneous fat present (3.5% of body weight), making
skin smooth
Bone marrow takes over hematopoiesis at 28 weeks

Dr. Beda Olabu: Basic Embryology Series


WEEK 30 – 34 OF DEVELOPMENT
Pupillary light reflex can be elicited

Upper and lower limbs now have a chubby


appearance

Fat is now 8% of body weight

Dr. Beda Olabu: Basic Embryology Series


WEEK 35 – 36 OF DEVELOPMENT
Firm grasp by fetus
Spontaneous orientation to light
Fat is about 16% of the body weight (fat increases
at 14g per day)
At 36 weeks abdominal circumference same as
head circumference
Breasts protrude in both males and females

Dr. Beda Olabu: Basic Embryology Series


203 CLASS DISCUSSION

Outline the factors that influence


fetal growth

Dr. Beda Olabu: Basic Embryology Series


FACTORS THAT INFLUENCE FOETAL GROWTH

Genetic factors: Race; Chromosomal disorders

Hormonal factors: Fetal thyroid hormone

Environmental factors: uterine environment,

maternal systemic disease, Smoking)


Dr. Beda Olabu: Basic Embryology Series
FACTORS THAT INFLUENCE FOETAL GROWTH
Infectious agents (TORCH-S)
Diet and nutrients
Social and emotional stress
Drug and smoking
Teratogens and toxins
Altitude and temperature
Ionizing radiation
Dr. Beda Olabu: Basic Embryology Series
ASSESSMENT OF FOETAL GROWTH

Fundal height:

Estimates the size of

the uterus

Dr. Beda Olabu: Basic Embryology Series


ASSESSMENT OF FOETAL GROWTH

Fetoscopy:

Measures the

foetal heart rate

Dr. Beda Olabu: Basic Embryology Series


ASSESSMENT OF FOETAL GROWTH

Ultrasonography:
Use of ultrasound

Provides a more
elaborate assessment

Many indications
Dr. Beda Olabu: Basic Embryology Series
ASSESSMENT BY ULTRASOUND

Dr. Beda Olabu: Basic Embryology Series


ASSESSMENT BY ULTRASOUND

Dr. Beda Olabu: Basic Embryology Series


ASSESSMENT BY ULTRASOUND

Dr. Beda Olabu: Basic Embryology Series


ASSESSMENT BY ULTRASOUND

Dr. Beda Olabu: Basic Embryology Series


ASSESSMENT BY ULTRASOUND

Dr. Beda Olabu: Basic Embryology Series


ASSESSMENT BY ULTRASOUND

Dr. Beda Olabu: Basic Embryology Series


SONOGRAPHIC ESTIMATION OF GESTATIONAL AGE

MEAN SAC DIAMETER CROWN-RUMP LENGTH

Dr. Beda Olabu: Basic Embryology Series


SONOGRAPHIC ESTIMATION OF GESTATIONAL AGE

FL BPD & HC AC

Dr. Beda Olabu: Basic Embryology Series


PRENATAL DIAGNOSIS OF CONGENITAL
ANOMALIES
Sampling techniques
Invasive methods
1. Amniocentesis
2. Chorionic villous
sampling
3. Percutaneous
cordocentesis

Dr. Beda Olabu: Basic Embryology Series


PRENATAL DIAGNOSIS OF CONGENITAL
ANOMALIES
Imaging techniques
Non-invasive

1. Obstetric ultrasound (for


anomaly scan)
2. Obstetric MRI

Dr. Beda Olabu: Basic Embryology Series


PRINCIPLES OF TERATOLOGY
MECHANISMS & CAUSES OF BIRTH DEFECTS

Dr. Beda Olabu:


Basic Embryology Lecture Series
DEFINITIONS OF TERMS
Teratology:
Study of birth defects
Teratogen:
An agent that causes congenital defects
Congenital anomaly:
A structural defect that someone is born with

Dr. Beda Olabu: Basic Embryology Series


DEFINITIONS OF TERMS
Malformation: A primary structural defect resulting
from a localized error of morphogenesis (intrinsic)
Disruption: Specific abnormality that results from
disruption of normal developmental processes.
Deformation: An alteration in shape / structure of
previously normally formed part (extrinsic)
Syndrome: A recognized pattern of malformations with
a given etiology

Dr. Beda Olabu: Basic Embryology Series


LEARNING OUTCOMES
1. General principles of teratology

2. Common mechanisms of birth defects

3. Common morphological defects

4. Causes of birth defects

5. Prenatal diagnosis of birth defects


Dr. Beda Olabu: Basic Embryology Series
GENERAL PRINCIPLES OF CONGENITAL
ANOMALIES
2-3% of live newborns have birth defects

Wide spectrum

Multiple defects can occur – syndromes

Shows geographical and ethnic differences


Dr. Beda Olabu: Basic Embryology Series
COMMON MECHANISMS OF CONGENITAL
ANOMALIES
 Failed induction to form an organ

 Persistence of an embryonic structure

 Inadequate/failed cellular migration

 Excessive migration of cells/tissues

 Developmental arrest
Dr. Beda Olabu: Basic Embryology Series
COMMON MECHANISMS OF CONGENITAL
ANOMALIES
 Incomplete/partial separation

 Defective septation of an organ/embryonic structure

 Failed/inadequate/excess tissue resorption

 Failure to fuse/merge

 Abnormal union/merging

Dr. Beda Olabu: Basic Embryology Series


CONJOINED TWINS
Thoracopagus Craniopagus Omphalopagus

Dr. Beda Olabu: Basic Embryology Series


LIMB ANOMALIES
Club foot (CTEV) Polydactyly Syndactyly

Dr. Beda Olabu: Basic Embryology Series


CNS ANOMALIES
Spina bifida Hydrocephaly Encephalocele

Dr. Beda Olabu: Basic Embryology Series


CRANIOFACIAL DEFECTS
Cleft lip & palate Ankyloglossia Micrognathia

Dr. Beda Olabu: Basic Embryology Series


DEFECTS OF THE URINARY SYSTEM
Pelvic/ectopic Horse-shoe Extrophy of the
kidney kidney urinary bladder

Dr. Beda Olabu: Basic Embryology Series


ANOMALIES OF MALE GENITALIA
Hypospadia Ambiguous Cryptochirdism
genitalia

Dr. Beda Olabu: Basic Embryology Series


ANOMALIES OF FEMALE GENITALIA
Mullerian duct anomalies Ambiguous genitalia

Dr. Beda Olabu: Basic Embryology Series


ABDOMINAL WALL DEFECTS
Prune-Belly Umbilical Gastroschisis
hernia

Dr. Beda Olabu: Basic Embryology Series


GASTROINTESTINAL ANOMALIES
Omphalocele Gut malrotation Merkel’s
diverticulum

Dr. Beda Olabu: Basic Embryology Series


GASTROINTESTINAL ANOMALIES
Congenital (Gut) atresia Aganglionic
pyloric stenosis megacolon

Dr. Beda Olabu: Basic Embryology Series


ANOMALIES OF THE RESPIRATORY SYSTEM

Tracheo-esophageal fistula Pulmonary agenesis

Dr. Beda Olabu: Basic Embryology Series


CARDIOVASCULAR DEFECTS
Ventricular Tetralogy of Coarctation of
septal defect Fallot the aorta

Dr. Beda Olabu: Basic Embryology Series


ANOMALIES OF THE SKIN
Albinism Vitiligo Ichthyosis

Dr. Beda Olabu: Basic Embryology Series


ANOMALIES OF THE BREAST
Amastia Inverted nipple Polymastia

Dr. Beda Olabu: Basic Embryology Series


CAUSES OF CONGENITAL ANOMALIES

Idiopathic - 50%

Genetic factors - 18%

Environmental factors - 7%

Multifactorial (genetic & environmental) - 25%

Dr. Beda Olabu: Basic Embryology Series


ENVIRONMENTAL FACTORS

Mechanical factors

Chemicals/drugs

Physical factors

Maternal infections and diseases


Dr. Beda Olabu: Basic Embryology Series
ENVIRONMENTAL FACTORS
Critical period of
development

Genetic susceptibility
of the embryo

Dosage of the factor

Dr. Beda Olabu: Basic Embryology Series


CONSEQUENCES OF EXPOSURE TO A TERATOGEN

1. Death – abortion or miscarriage

2. Malformation

3. IUGR – intrauterine growth retardation

4. Functional defects in the newborn

5. Normal newborn
Dr. Beda Olabu: Basic Embryology Series
CONSEQUENCES OF EXPOSURE TO A TERATOGEN

Dr. Beda Olabu: Basic Embryology Series


GENETIC FACTORS

Chromosomal defects Gene Mutations

Numerical Structural Autosomal Dominant


OR OR
Sex-Linked Recessive
Trisomy 21
45X0
XXY
Trisomy 18
Trisomy 13
Dr. Beda Olabu: Basic Embryology Series
AUTOSOMAL DOMINANT
Congenital aniridia Achondroplasia

Dr. Beda Olabu: Basic Embryology Series


AUTOSOMAL RECESSIVE
Phocomelia Albinism

Dr. Beda Olabu: Basic Embryology Series


X-LINKED RECESSIVE
Ichthyosis vulgaris Hemophilia

Dr. Beda Olabu: Basic Embryology Series


PRENATAL DIAGNOSIS OF CONGENITAL
ANOMALIES
Sampling techniques
Invasive methods
1. Amniocentesis
2. Chorionic villous
sampling
3. Percutaneous
cordocentesis

Dr. Beda Olabu: Basic Embryology Series


PRENATAL DIAGNOSIS OF CONGENITAL
ANOMALIES
Imaging techniques
Non-invasive

1. Obstetric ultrasound (for


anomaly scan)
2. Obstetric MRI

Dr. Beda Olabu: Basic Embryology Series


252

THE END

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