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General Embryology Book Final (1) Edit

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0% found this document useful (0 votes)
22 views231 pages

General Embryology Book Final (1) Edit

Uploaded by

soubhi.elgebaly
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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GENERAL EMBRYOLOGY

 Understanding embryology is essential for creating


health care strategies;
1.
Male reproductive system
The male reproductive system is divided into:

1- Primary sex 2- Secondary sex organs which


organs are the includes,
testes in which a) a system of ducts conveying the
spermatozoa sperms to outside. These ducts are
(sperm) and the epididymis, ductus deferens,
the male sex ejaculatory duct and urethra,
hormone b) The accessory glands are the
(testosterone seminal vesicles, the prostate gland
hormone) are and bulbourethral gland, and
produced. c) The penis which is the copulatory
organ.
Testis and epididymis.
Microscopic structure of seminiferous tubule
organ Function
1- Testis.
-seminiferous -Formation and development of sperms
tubules.
-interstitial cells. -Secretion of the male sex hormone
(testosterone hormone)
2- Epididymis. -Store, maturation of sperms and
3-Ductus convey sperms to ductus deferens.
deferens, -Store and covey sperms to ejaculatory duct,
4- Ejaculatory -receives sperms and secretion of seminal
duct. vesicle and convey them to urethra.
5- Seminalvesicle. -Secrete an alkaline fluid for nutrition of
sperms.
Functions of the organs of the male reproductive system (cont.):

Organ Function
6- Prostate gland. -Secretes an alkaline fluid for
neutralize acidity of vagina.
7- Bulbourethral -Secretes a mucoid fluid that
glands. lubricates the urethra and end of
penis.
8- Scrotum.
-Encloses and protects the testes.

9-Penis. -Organ of copulation and convey


urine and seminal fluid to outside
the body.
1- Write an account on Gametogenesis:
Structure of seminiferous tubule
Stages of spermatogenesis
Stages of spermatogenesis
Stages:
 Neck: It contains centrioles which are
proximal centriole and distal centriole.
 Function: Distal centriole gives rise to axial
filament of the sperm which runs up to the
end of the tail.
 Middle piece: It is tubular structure in
which mitochondria are spirally arranged.
 Function: Middle piece is called power
house of sperm because it gives energy to
the sperm to swim in the female genital
tract.
:
*Spermiogenesis:
Seminal fluid (semen):

.

*Anomalies of seminal fluid.


 Aspermia

 Oligiospermia; 

 Necrospermia;
follicle luteinizing
stimulating hormone (LH)
hormone acts on Leydig
(FSH) stimulates
Follicle secretion of
hormone acts testosterone
upon the hormone by
Sertoli cells to Leydig cells
stimulate
spermatogene
sis.
Female reproductive system l

1- Primary sex organs: 2-Secondary sex organs:


The female primary sex These include the Vagina,
organs are the ovaries which
Uterine (fallopian) tube,
has two functions i) Formation
and development of the ova, Uterus, and Mammary glands.
and ii) secretion of the female -These structures are essential
sex hormones (estrogen and for fertilization of the ovum,
progesterone) hormones implantation, development of
the embryo and fetus, and
delivery.
Female reproductive system (median sect)
Microscopic structure of the ovary
Microscopic structure of the ovary
Uterus:
Wall of the uterus:
Anterior view of the female reproductive system (the left side is cut anteriorly
Microscopic structures of the endometrium of the uterus

Uterine blood vessels

Uterine mucosa Uterine glands

Superficial layer

Deeper layer

Microscopic structure of the endometrium


3- Write an account on Oogenesis:
 Definition:
*Stages of oogenesis:

small cell called the first large cell called the secondary
polar body (which oocyte (23chromosomes.)
degenerates)

small cell called the second large cell called the mature
polar body (which degenerates) ovum (23chromosomes.)
Stages of oogenesis
Abnormal ovum:

yte.

Abnormal ovum
Main differences between spermatogenesis and oogenesis
Spermatogenesis Oogenesis
1- Site. • Seminiferous tubules •Ovaries.
of testis.
2- Time. • Start at puberty and •Start at puberty
continuous to old age until menopause (45-
50 years)
3- Occurrence. • Continuously occur. •Occur once every
month.
• One spermatogonium •One oogonium 
4-Results.
 four sperms, two of one mature ovum
[22+X chromosomes]
which have 22+X
chromosomes & two
contain 22+Y
chromosomes.
The process of oogenesis is controlled by TWO centers in the brain -
1- the hypothalamus which secretes gonadotropin-releasing hormone (GnRH) to
the anterior pituitary.
2- the anterior lobe of the pituitary gland. Which release

 Follicle stimulating hormone (FSH) that stimulates the development of


follicles within the ovary.
 luteinizing hormone (LH),which causes ovulation and the development of the
corpus luteum
 The corpus luteum secretes progesterone which responsible for maintenance
of pregnancy.
The follicle secretes estrogen: this stimulates the repair of the wall of uterus
 If the pregnancy occur the corpus luteum remain to 4 month to secretes the
progesterone hormone. After that its function replaced by the placenta
 If no pregnancy occurs: the corpus luteum degenerates, progesterone is no
longer released and the lining of the uterus breaks down.
Structural abnormalities of chromosomes
Numerical Abnormalities of chromosomes (Aneuploidy)
 When an individual is missing one of the chromosomes from a pair, the
condition is called monosomy. Or when an individual has more than two
chromosomes instead of a pair, the condition is called trisomy. These
abnormalities is due to nondisjunction errors; Nondisjunction results in a
number of abnormalities, including:
 Klinefelter syndrome is a disorder in which males have an extra X
chromosome. The genotype for males with this disorder is XXY.. These males
were once thought to be taller than average males and overly aggressive based
on prison studies. Additional studies however have found XYY males to be
normal.
 Tuner syndrome is a condition that affects females. Individuals with this
syndrome, also called monosomy X, have a genotype of only one X
chromosome (XO).
 Trisomy X females have an additional X chromosome
 Down syndrome is most commonly the result of nondisjunction affecting
autosomal chromosome 21. Down syndrome is also referred to as trisomy 21
because of the extra chromosome.
Ovarian and Uterine Cycles
Hypothalamus Hypothalamus

GnRH 4 Positive
8
feedback exerted
Travels via
portal blood by large in
estrogen
1 output.

Anterior pituitary
1 5
Progesterone
LH surge Estrogen
FSH LH 6
Inhibin
Ruptured
2 2 8
follicle

3 Slightly
elevated 7
estrogen Thecal
and rising cells
inhibin
levels. Granulosa Androgens Corpus luteum
cells Mature follicle Ovulated
Convert secondary
Inhibin androgens to 2 oocyte
estrogens Late follicular and
Early and midfollicular phases luteal phases
LH

FSH

(a) Fluctuation of gonadotropin levels: Fluctuating


levels of pituitary gonadotropins (follicle-stimulating
hormone and luteinizing hormone) in the blood
regulate the events of the ovarian cycle.
Primary Vesicular Corpus
follicle follicle luteum Degenerating
Secondary Ovulation
corpus luteum
follicle

Follicular Ovulation Luteal


phase (Day 14) phase

(b) Ovarian cycle: Structural changes in the ovarian


follicles during the ovarian cycle are correlated with
(d) changes in the endometrium of the uterus during
the uterine cycle.
Uterine (Menstrual or Bleeding)
Cycle
Uterine (Menstrual) Cycle
Uterine Cycle
Uterine Cycle
Uterine Cycle
Uterine Cycle
Estrogens

Progesterone

(c) Fluctuation of ovarian hormone levels:


Fluctuating levels of ovarian hormones (estrogens
and progesterone) cause the endometrial changes
of the uterine cycle. The high estrogen levels are
also responsible for the LH/FSH surge in (a).
Endometrial Blood vessels
glands

Menstrual
flow
Functional layer
Basal layer
Days
Menstrual Proliferative Secretory
phase phase phase
(d) The three phases of the uterine cycle:
• Menstrual: Shedding of the functional layer of the
endometrium.
• Proliferative: Rebuilding of the functional layer of
the endometrium.
• Secretory: Begins immediately after ovulation.
Enrichment of the blood supply and glandular secretion of
nutrients prepare the endometrium to receive an embryo.
Both the menstrual and proliferative phases occur before ovulation, and
together they correspond to the follicular phase of the ovarian cycle. The
secretory phase corresponds in time to the luteal phase of the ovarian cycle.
FERTILIZATION
What is fertilization?
Sperm transport in the female genital system
.
3-
I:
After Ramasamy_Santhanam, schematic diagram for events of fertilization
Results of fertilization
Cleavage of zygote and
blastocyst formation
Zygote cleavage
Zygote Стоковые фотографии и лицензионные изображения

Morula
Blastocyst
 Implantation

 By. Prof. Saeed Abuel Makarem
By the 5th day the Zona pellucida degenerates.
Blastocyst begins implantation by the 6th day, (20 day of a 28 day menstrual
cycle).
Trophoblast cells penetrate the epithelium of the endometrium.

Penetration results from proteolytic enzymes (eg.COX-2)


produced by trophoblast.
t.
Early Pregnancy Factor


Day 8

Day 8
DAY 9

Twins
Types of twins
1. dizygotic twins (Fraternal, non-
identical twins):

Pygo-pagus
Cranio-pagus
wall of pharyngeal membrane
amniotic cavity

wall of yolk sa

primitive streak
endoderm ectoderm
(hypoblast) (epiblast)
2 germ layers: ectoderm
Development of intraembryonic mesoderm

- begining of 3. week - future caudal part (cloacal membrane) of two-layered


embryonic disc

- by proliferation of ectodermal (epiblast) cells primitive streak develops


- primitive streak grows cranially in the midline of the bilaminar embryonic
disc
- primitive streak elongates, its cranial end proliferates to form the primitive node
- in the primitive streak develops a narrow primitive groove that ends in a primitive pit
- influence of embryonic growth factors – ectodermal cells proliferte and migrate through
the primitive groove between ecto and endoderm, spred cranially and laterally
and give

rise to embryonic mesoderm - third germ layer


16. day

prim
mesoderm

notochordal process

notochordal canaliculus

Development of the notochordal process and notochord


ectoderm extraembryonic
esoderm

plate allantois

lateral
mesoderm
plate
derm
paraaxial mesoderm

intermediate mesoderm
canalis neurentericus nic
derm mesoderm

notochord

notochord
derm endoderm

mesoderm
extraembryonic mesoderm of
ectoderm amniotic cavity

notochord endoderm
mesoderm extraembryonic mesoderm of
yolk sac

3rd week
Paraxial mesoderm gives rise to somites (40-42) and these are divided into 3 parts:
1. Sclerotome – axial skeleton
2. Myotome – striated skeletal muscles
3. Dermatome – dermis of cutis

Intermediate mesoderm gives rise to male and female genital and urinary system.

Lateral mesoderm is splited into somatopleura and splanchnopleura.

Cardiogenic area mesoderm is situated in front of pharyngeal membrane


Formation of the notochord
1. Prenotochordal cells invaginating in the primitive pit move forward to the prechordal
plate

2. Notochord fuses with the underlying visceral hypoblasts, and its inferior wall
degenerates and disappear.

3. Neuroenteric canal is formed between the amnion and yolk sac for a short time.

4. Definitív notochord develops from the cells of notochordal process between the
prechordal plate and cloacal membrane

Neuroenteric canal
DEVELOPMENT OF THE DEFINITIVE NOTOCHORD
Differentiation of the

intraembryonic mesoderm
MESODERM

Paraxial mesoderma - somite

Intermediate mesoderma

gononephrotom

Parietal mesoderm

somatopleura

splanchnopleura
DIFFERENTIATION OF THE MESODERM
17th day
paraxial mesoderm

lateral mesoderm .

intermediate mesoderm (gononephrotom).

Lateral mesoderm divides into 2 layers

somatopleura and splanchnopleura.

The cavity between them: intraembryonal coeloma. It is continouos

with extraembryonal coeloma.


FROM DR. MARK KOZSUREK
FORMATION OF THE SOMITES

- At the beginning of the 3rd week somites (or somitomeres) appear both side of

the notochord and developing neural tube

- Somites appear first cranially (around the 20th day), than develop caudally

(3 pair/day).

- 4 OCC, 7 CERV, 12 THOR, 5 LUMB, 5 SACR, 8-10 COCC

- In the head region neuromers (mesenchyma of the head) develop.


SOMITOGENESIS AND DIFFERENTIATION
dermatomyotom
4th week

SCLEROTOM

Ventromedial cells of the somites migrate and surround

the neural tube and notochord sclerotom vertebra

The remaining part is called dermatomyotom

myotom (muscles develop from it)

dermatom, the dermis and

subcutis develops from it


Somites are segmented in the whole length of the embryo,
intermediate mesoderm is segmented rostrally only,
while the lateral plate mesoderm is not segmented at all.
DERIVATES OF THE INTERMEDIATE MESODERM

- The intermediate mesoderma or gononephrotom gives the kidneys and

gonads

- In the cervical and upper thoracic region it is segmentated , lower it

forms a continuos nephrogen cord


Derivates of the lateral mesoderm

From the somatopleura develops the body wall (PARIETAL LAYER OF THE SEROUS MEMBRANES).

From the splanchnopleura mesothelial cells, visceral layer of the serous membranes
develop. (pleura, pericardium, peritoneum).
neural tube

somite

intermediate mesoderm
kidney, ureter,
notochord male genital tract

lateral plate mesoderm


splanchnic mesoderm
visceral layer of serous
gut
membranes

somatic mesoderm
intraembryonic coelom → parietal layer of
body cavities (pericardium, serous membranes
pleura, peritoneum)

FROM DR. MARK KOZSUREK


ectoderm

epiblasts primitive
streak
intraembryonic
mesoderm
hypoblasts yolk sac
endoderm
? endoderm

All the tissues and cells of the human body


extraaembryonic
mesoderm
are derived from the epiblasts! FROM DR. MARK KOZSUREK
EMBRYOGENESIS

1. Separation of the embrional-extraembrional tissues

2. Gastrulation: formation of the germ layers – EKTO-, ENDO-, MESODERM

3. Neurulation: formation of the neural tube and crest (CNS AND PNS)

4. Differentiation of the mesoderm


DEVELOPMENT OF THE NERVOUS SYSTEM

Neurulation
Development of the nervous system

m – in the midline,
and oropharyngeal
Neural crest
17. day
paraaxial
chord intermed
ectoderm mesoderm meso

mesoderm

yolk sac
intermed somite
amnion neural gro e
mesoderm
visceral
mesoderm

neural tube

endoderm of
yolk sac
parietal
mesoder
1. Neural plate

2. Neural groove

3. Neural crest

4. Neural tube

5. Separation of neural crest


6. Developing of epidermis
Neural crest gives rise to:

Cranial and spinal ganglia


Schwann cells
Satelite cells
Cells of pia mater and arachnoid
Melanocytes
Odontoblasts
Chromafin cells
ll o neural p te

neu

so ive

no

prim eak
neura

heart

somit

som

amnio nion
neuroporus anterior
l otic pit
arch
branchial arches
eye placod
rt prominence

amnion rt
prominence upper
limb bu
funiculu
yolk sac s
umbilica
lis

neuropo
posterior
Development of the brain

telencephalon

diencephalon

mesencephalon

metencephalon cerebellum
pons Varoli

myelencephalon

medulla oblongata
Development of spinal cord

matter
ttt
outer marginal zone
next white matter

next gray matter intermediate zone


-mantle zone
primitiv (neuroblasts+ spongioblasts
ependymal zone

inner ventricular zone

s int na
endoderm ectoderm

mesoderm
Germ layer derivatives
ECTODERM

1. Neuroectoderm

neural plate

neural crest

placodes

2. Surface ectoderm

FROM DR. MARK KOZSUREK


NEURAL PLATE – NEURAL TUBE

Neurons and glial cells of the central nervous system CNS


(except the microglia)
Retina, dilator and constrictor of pupil muscles of the eye

NEURAL CREST

Peripheral nervous system PNS


medulla of the adrenal gland
melanocytes (which contain melanin
pigment)
aorticopulmonary septum of the heart
odontoblasts
PLACODS

otic placode: epithelial and neural elements of the vestibulocochlear system (organs of hearing and equilibrium)

olphactory (nasal) placode: primary neuroepithelial cells of the nasal cavity

optic (lens) placode: lens of the eye

adenohypophyseal placode: hormone secreting cells of the adenohypophysis

trigeminal placode: gives rise to the cells of the trigeminal ganglion

epibranchial placode: taste buds of the tongue, soft palate and laryngeal inlet, neurons and supporting cells of
taste-sensing ganglia of the facial glossopharyngeal and vagus nerves.

SURFACE ECTODERM

Epidermis, hair, nails, sebaceous and sweat glands of the skin

Epithelium of the corne and conjunctiva, epithelium of the lacrimal apparatus

Epithelium and glands of the oral and nasal cavity, enamel of the teeth, salivary glands

Mammary glands

Epithelium and glands of the anus, epithelium of the spongy part of the male urethra
MESODERM

EPITHELIAL TYPE (densly packed cells)

Intermediate mesoderm → epithelium of the kidney, ureter and the male genital tract
(epididymis, ductus deferens, seminal vesicle)

Somato-splanchnopleural junction → cortical cells of the suprarenal gland, gonadal epithelia


(not including the germ cells!), epithelium of the uterine tube, uterus and the upper vagina

Somato- and splanchnopleura → mesothelium (simple squamous epithelium)

MESENCHYMAL TYPE

Circulatory system, including the endothelium of blood and lymph vessels, cardiac muscle,
formed elements of blood and lymphatic cells

Connective and supportive tissues – all of them!!!

Smooth muscles (not including those in the eyeball!)

Microglia
ENDODERM

Epithelium and glands of the GI tract (including liver, gallbladder and pancreas)

Epithelium of the urinary bladder, the prostate, the prostatic part of the male urethtra

and the whole length of the female urethra

Epithelium and glands of the airways (trachea, bronchi and alveoli of the lungs)

Epithelium of the tympanic cavity and auditory tube

Thyroid, parathyroid glands

Thymus, tonsills
SUMMARY
Fetal membranes
Fetal membranes means all the
structures that developed from
the zygote but not form parts of
the embryo. After birth they
expelled from the uterus as “
afterbirth ”. These include [1]
chorion [2] amnion [3] yolk sac
[4] connecting stalk, and [5]
AMNION
Source of amniotic fluid
Excretion of the fetal Secretion of the
kidneys amniotic cells
*
Congenital abnormalities of amnion and
amniotic fluid
1- Polyhydramnios (poly-much) if the volume more than 1500-2000
ml.
Causes of Polyhydramnios
The cause of this condition cannot always be determined, but it is
often associated with:
Twins
 Gestational diabetes (in some cases, if diabetes is the cause of
polyhydramnios, the baby may be unusually lardge for its
gestational age)
 Gut atresia, a blockage in the baby’s digestive system that can interfere
with the absorption of amniotic fluid (this will usually require surgery
after the baby is born)
 Rh diseases, an incompatibility between maternal and fetal blood
types
 Twin-to-twin transfusion syndrome, a condition in which a pair of
identical twins in separate sacs share the placenta and one twin does
not receive
Risks of Polyhydramnios
Congenital anomalies of the amnion:
 Amniotic band syndrome: .

 In mild cases, a band may become wrapped around digits (fingers or


toes) of the fetus. This can result in amputations of the fingers or toes,
or syndactyly of the fingers or toes (the fingers or toes become fused
together or webbed) which can be treated surgically after birth
 Amniotic bands attached to the face or neck can sometimes cause
deformities such as cleft lip and palate.
 In other instances, a band can be wrapped around a limb (arm or leg)
resulting in restriction of movement leading to deformities such as
clubbed foot (the foot is rotated inwards and downwards )
 In more severe cases, an amniotic band can become tightly wound
around a limb leading to decreased blood supply and resulting in
possible amputation of the limb.
 The most severe, and life-threatening complication of amniotic band
syndrome is if a band becomes wrapped around vital areas such as the
head or umbilical cord. Constriction to the umbilical cord or other vital
areas can result in fetal deat
n
AMNIOCENT
ESIS
AMNIOCENTESIS
 Amniocentesis is a prenatal diagnostic test in which a small
amount of amniotic fluid is removed from the sac surrounding
the fetus for testing. The sample of amniotic fluid (less than
one 20cc) is removed through a fine needle inserted into the
uterus through the abdomen, under ultrasound guidance.
 The fluid is then sent to a laboratory for analysis. Different
tests can be performed on a sample of amniotic fluid,
depending on the genetic risk and indication for the test.
Amniocentesis is performed to ;
 Confirms if abnormality is present in fetus that may have
been detected from other tests, such as blood tests.
 diagnosis of chromosomal or genetic abnormality prior to
birth of child.
 Diagnosis of other hereditary defects depending on family
history.Allows early
 preparation for child with birth defect or early decision
making as to carrying the baby to full te
.
Placenta

Full-term umbilical cord


jelly
A &b .Folding of the embryo and formation of the umbilical cord .
C&D. Transverse section through the umbilical cord showing its structures
A transverse section through the umbilical cord showing its structures
1-
The cord is cut, and its structure changes into ligament as
follows.
1- Left umbilical vein  ligamentum teres of liver.
2- Umbilical arteries  lateral umbilical ligaments extended
between the urinary bladder and umbilicus.
3- Allantois  median umbilical ligament, extends between
the apex of urinary bladder to umbilicus.
Function of umbilical cord:
1. It is the "life line" of the fetus through which the blood
flow between the fetus and placenta.
2. It allow the fetus to move freely.
Anomalies of the umbilical cord.

1- Very long cord, may be coiled around the fetal neck 


fetal death.
2- Very short cord,  premature separation of the placenta
during birth.

Normally the umbilical cord attached to the placenta near


its center.
1- Mid-central attachment, if the cord is attached to the
center of the placenta.
2- Marginal (battledore) attachment; if the cord is attached
the margin of the placenta.
3- Velamentous attachment: it the cord is attached to
membrane some distance from placenta.
1- in about 1% the umbilical cord may contain only
one artery.

1- False knot, due dilation of the Wharton's jelly 


has no significance.
2- True knot, caused by passing of the embryo
through a looped cord  fetal asphyxia and fetal
death.

False knot True knot


CHORION and PLACENTA
the chorionic sac or chorion - a membrane
that covers conceptus externally

it consists of the cytotrophoblast and extraembryonic


somatic mesoderm

within the chorion the embryo and


amniotic and yolk sacs are suspended by the connecting
stalk

the space extending between both sacs and the chorion


called as exocoelomic space or extraembryonic coelom

during flexion of the embryo the extraembryonic space is substantially redu

Development of chorionic villi


begins to form early and development of villi undergoes 3 stages: primary, secondary and tertiary villi

 primary chorionic villi develop on the entire surface of the chorionic sac - they appear as
local masses of the cytotrophoblast

 secondary chorionic villi occur on day 13 to day 14, when the extraembryonic mesoderm
proliferates and grows into cytotrophoblast masses forming a core of loose connective tissue
 tertiary chorionic villi are vascularized , they contain already anlage blood vessels
chorionic villi was originally developed around the
entire surface of implanted conceptus
later with the growth of conceptus
 villi adjacent to capsular and marginal decidua become
rare and shorter up to evetually disappear
while
 villi adjacent to basal decidua become long and branched
by this way, the chorion is divided into regions of different
surface
villous chorion /chorion frondosum/ - against the basal
decidua
smooth chorion/ chorion laeve - against the marginal and
capsular deciduae
Chorionic sac - 4th month Placenta - 6th month
maternal aspect
Placenta
a membrane-like and temporary organ that develops between the 3 - 8 weeks
the site of nutrient and gas exchange between the mother and fetus
the full term human placenta is a discoid, a diameter 15 - 25 cm and 2- 3 cm thick
it weighs 500 to 600 g
the human placenta is hemochorionic - the blood of mother enters the intervillous space and
flows slowlyaround the villi, allowing an exchange metabolic and gaseous products with fetal
blood
shortly after birth a baby, the placenta and fetal membranes are expelled from the uterus as
the afterbirth
2 parts close associated each other of the placenta:
the fetal part or villous chorion - smooth with insertion of umbilical cord and outlines of
umbilical vessels that are seen through the amnion

the maternal part or decidua basalis


- is divided into irregular
convex areas -
cotyledons seperated by
placental septa
Fetal part: a chorionic plate + chorionic villi

project into the intervillous space (is deriving from the lacunae developed in the
syncytiotrophoblast during the 2nd week)
chorionic villi may be either free or anchored to the decidua basalis = main stem villi, one main
stem villus forms a unit of the fetal part of the placenta known as - the cotyledon, they are
separated each other by septa of placenta

maternal blood
circulates through
the intervillous
space, bringing
nutritive and other
substances
necessary for
embryonic and
fetal growth, and
taking away the
waste products of
fetal metabolism
Structure of villi:
a connective tissue core deriving from the extraembryonic mesoderm
is surrounded by the cytotrophoblast and the syncytiotrophoblast
the cytotrophoblast disappears cca in a half of pregnancy while the syncytiotrophoblast
is retained to the end
fetal and maternal blood streams in the placenta are separated by the placental
membrane (barrier)
a composite membrane consisting of

 the endothelium with basal lamina of the fetal


capillaries  the endothelium with basal lamina of the fetal
 the connective tissue in the interior of the villus capillaries
 the cytotrophoblast + its basal lamina  the connective tissue in the interior of the villus
 the syncytiotrophoblast  the syncytiotrophoblast

until about 20 weeks after the 20th week


Maternal part: is
decidua basalis that
usually forms a
compact layer
known as the basal
plate

protrudes between
individual
cotyledons as
placental septa

Placental circulation
Fetoplacental circulation: Deoxygenated blood leaves the fetus and passes through the 2
umbilical arteries to the placenta, arteries branch and ultimately give rise to capillaries of
chorionic villi, oxygenated fetal blood returns to the fetus through the one umbilical vein
Maternal-placental circulation: 80 to 100 spiral arteries (are branches of the uterine artery)
open in the middle of the placenta; blood flows into the intervillous space and passes over villus
surfaces toward the chorionic plate; the maternal blood leaves the intervillous space through
the endometrial veins (located near the periphery of the placenta)
normally, no intermingling of fetal and maternal blood occurrs

Placental activities
has three main functions: metabolic, transport of gases and nutrients, and endocrine secretion
Placental metabolism - placenta, in particular during early pregnancy, synthesizes glycogen,
cholesterol, and fatty acids that all serve as a source of nutrients and energy for the embryo
Placental transport - is bidirectionally (between the placenta and maternal blood and vice versa)
gases, nutrients, hormones, electrolytes, antibodies, wastes, and also several drugs are transported
across the placental membrane
4 main transport mechanisms are utilized: simple cell diffusion, facilitated diffusion, active
transport, and pinocytosis
Placental endocrine secretion: the syncytiotrophoblast is endocrine active and produces
hormones of 2 categories:
protein hormones: human chorionic gonadotropin (hCG), human chorionic
somatomammotropin (hCS) or placental lactogen, human chorionic thyrotropin (hCT), and
human chorionic corticotropin (hCACTH)
steroid hormones: progesterone + estrogens
What Are Birth Defects?
Birth defects are defined as abnormalities of structure,
function, or body metabolism that are present at birth.
These abnormalities lead to mental or physical disabilities
or are fatal. There are more than 4,000 different known birth
defects ranging from minor to serious, and although many
of them can be treated or cured, they are the leading cause
of death in the first year of life.
According to the March of Dimes, about 150,000 babies are
born with birth defects each year in the United States. The
American College of Obstetricians and Gynecologists
(ACOG) says that out of every 100 babies born in the United
States, three have some kind of major birth defect.
Birth defects can be caused by genetic, environmental, or
unknown factors.
Spina bifida is determined during the first
trimester of pregnancy. As the embryo
forms, the bones in the spinal column
come together and tissue grows around
the vertebrae, closing it. In the case of
spina bifida, an opening remains. The size
of the opening varies from almost
pinpoint to several inches.

Current research links the nutrient FOLIC ACID to this birth defect. It is
imperative that the mother has an adequate supply of this nutrient prior to
AND in the early stages of pregnancy. Oranges are a common source of this
nutrient, as well as many enriched breads and cereals products. For this
reason, spina bifida would be considered as having an environmental cause.
The top arrow points
to a part of the spine
that is properly
closed.
The area where the The bottom arrow
bones are not properly points to an area that
closed allows the is improperly closed…
cord, tissue, and/or spina bifida.
fluids to protrude.
The location of the
“opening” on the
spine is critical. Areas
and functions below
the hole are affected.
Some areas above the
hole may be affected
as well, especially the
brain, as it is
connected to the
spinal cord and
nervous system.
Various degrees of
leg and foot
deformities are
found in spina bifida
patients, depending
on the size of the
improper spinal
closure.

The rarest form of spina bifida is when the spinal tissue actually
protrudes from the body. This only occurs in 10% of all cases.
Marfan's syndrome is a disorder
of connective tissue which causes
skeletal defects typically
recognized in a tall, lanky person.
A person with Marfan's syndrome
may exhibit long limbs and
spider-like fingers, chest
abnormalities (inversion of the
septum), curvature of the spine
and a particular set of facial
features including a highly arched
palate, and crowded, crooked
teeth.

The most significant of the defects in the syndrome are cardiovascular


abnormalities, which may include enlargement (dilatation) of the base of the aorta.
Since Marfan's syndrome is usually an inherited or genetic disorder, prospective
parents with a family history of Marfan's syndrome should get genetic counseling.
A couple of easy diagnostic
tools for Marfan Syndrome.
Symptoms of Marfan Syndrome
can be easily confused with
other disorders.
Club foot is a birth defect of
the foot and ankle. It can
occur in one or both feet.
Advances in medicine have
been useful in the surgical
correction of problems. This
defect occurs in the first
trimester of pregnancy…
during formation.
Normally within the brain there are some
cavities named ventricles, where a liquid
known as Cerebrospinal Fluid (CSF) is
produced. The purpose of this is to protect
the brain and spinal cord, acting as a shock
absorber. It also carries away disposed
materials. The CSF circulates from the
ventricles towards a space that exists
between the brain and the membranes
(meninges) that surround it, from where it
is "eliminated", into the blood stream.
In the individual with
hydrocephalus, the fluid does
not drain away properly, but
accumulates.

In an infant, the seams of the skull have not yet fused,


so the skull gets bigger as the fluid accumulates.
A miniature pump
called a shunt is
placed in the head
This baby recovers after having
to remove off
surgery to install a shunt.
excess fluid.
ANY consumption of alcohol
during ANY time during the
gestation period can damage a
baby’s brain.

Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects


(FAE) are growing problems in the United States. Despite
the warnings posted in bars and restaurants and the
increased media attention given to the perils of alcohol use
during pregnancy, the rate of drinking among women of
childbearing age continues to rise. The incidence of FAS
may be as high as 12,000 per year, with FAE evident in up to
36,000 infants per year. Drinking during pregnancy affects
not only the mother, but also the growing fetus. Alcohol can
cause physical deformities and neurobehavioral deficits in
the infant and growing child. Thus, it is not surprising that
FAS is the leading cause of mental retardation and the only
one that is preventable.
Facial characteristics that suggest the diagnosis of FAS.
Disabilities,
whether physical or
mental, vary widely
between individuals
depending on the
type and amount of
brain damage.

What is cerebral palsy?


Cerebral palsy is the name given to a condition which affects the way the brain controls the
muscles of the body. This results in difficulties in movement and posture.
"Cerebral" - refers to the brain
"Palsy" - can mean weakness or paralysis or lack of muscle control
Causes of cerebral palsy
Cerebral palsy is the most common physical
disability in childhood. It is estimated 2 to 3 people
out of every 1000 will have cerebral palsy. This
condition is not hereditary and there is no cure.
Many causes of cerebral palsy are still not known or
understood. Injury or changes to the developing
brain are associated with cerebral palsy.

For example, it is known the developing brain can be


injured by:
* Exposure to certain infections such as Rubella
(German Measles) in the early months of pregnancy
* Reduced oxygen supply to the baby during or after
birth
* Exposure of an infant to severe infection shortly
Careful after birth or the first few weeks of life.
monitoring during * An accident in the early years of life; for example,
the birth process with a near drowning or motor vehicle accident.
may prevent
some types of
brain injury.
The vast majority of
hemangiomas fall into the
category of port-wine stains or
small “birthmarks”, with only
15% being of the tumor variety
or needing medical intervention.
To remove some protruding
hemangiomas surgically
would result in bleeding to
death. As the blood vessels
in the area die, part or all of
the mass can be removed.
Laser surgery has been
extremely effective for
hemangiomas…even removal
of the “stain” variety.
Down’s Syndrome is a genetic disorder caused by an extra 21st chromosome.
The egg carries 23 chromosomes; the sperm carries 23 chromosomes; the
developing embryo should have 23 PAIRS of chromosomes…with no spares!
Physical Characteristics:
Muscle hypotonia, low muscle tone
Flat facial features, a somewhat depressed nasal bridge and a small nose
Upward slanted eyes, small skin folds on the inner corner of the eyes
Short neck
Misshaped ears
White spots on the colored part of the eye
Single skin crease in the palm of the hand
Excess flexibility in joints
Heart defects
Sight and hearing problems
Large and protruding tongue
Fifth finger has one flexion furrow instead of two
Excessive space between large and second toe
Entertainer Jerry Lewis has
made it his life-long mission
to raise funds to find a cure
for muscular dystrophy.
Each year millions of dollars
are collected from the
traditional Labor Day
television marathon.
What is muscular dystrophy? Muscular dystrophy (MD) refers
to a group of degenerative muscle diseases. The nine major
forms of muscular dystrophy are: Duchenne, Becker,
Facioscapulohumeral, Myotonic or Steinert's Disease,
Limb-Girdle, Congenital, Oculopharyngeal, Distal,and
Emery-Driefuss. Each of these individual forms affects only
two in 10,000 persons, but that amounts to 18 total per
10,000, and that is not a good statistic. All forms are
genetically linked. The DNA pattern prevents the body from
making the necessary muscle-building protein called
dystrophine.
The symptoms common to all forms of muscular dystrophy are progressive
weakness and atrophy (wasting) of skeletal muscles. Those are the muscles under
voluntary control. Whether or not they are ultimately lethal (as in Duchenne
muscular dystrophy when death often occurs by age 5) or relatively mild (as in
facioscapulohumeral muscular dystrophy when the person lives a normal life span) is
related to:
Age of onset of symptoms (from neonatal to late adulthood)
Muscles first and most often affected
Whether or not there is involvement of the heart (different than skeletal
muscle, but also a kind of muscle) or other organs
Degree of functional disability resulting from symptoms
Rate of progression of disease (from slow to rapid)
Complications may include: Deformity, decreased ability to care for oneself, heart
problems and breathing problems.
Multiple sclerosis is
a central nervous
system disorder
marked by
decreased nerve
function with initial
inflammation of the
protective myelin
nerve covering and
eventual scarring.
Symptoms and
severity of
symptoms vary
widely and may
progress into
episodes of crisis
alternating with
episodes of
remission.
During the first trimester of pregnancy
the two sides of the mouth and lip area
grow together. A combination of
genetic and environmental factors
sometimes interfere with this
development, and a cleft results.

Clefts often involve the lip, the roof


of the mouth (hard palate) or the soft
tissue in the back of the mouth (soft
palate).
In addition to needing plastic surgery to repair the
opening, these children may have problems with
their feeding and their teeth, their hearing, their
speech, and their psychological development as
they grow up.

en invaluable e treatment
e in 1,0 rths in Cauc
often in
People who have CF produce abnormally
thick, sticky mucus, which clogs the lungs
and leads to recurring lung and sinus
infections and difficulty breathing.
Reduced oxygen in the blood also leads to
a characteristic rounding and enlargement
of the nail bed in the fingers and toes,
called clubbing. Those with the disease
may also develop a barrel-shaped chest as a
result of their increased work to breathe.
These repeated infections often lead to
fleshy growths inside the nose, called nasal
polyps.
The thick mucus also obstructs the ducts
of the pancreas, preventing digestive
enzymes from reaching the intestines. So
those with CF do not absorb nutrients
from their food well, and they eliminate
nondigested food through the bowel,
resulting in very large stools. Because so
little food is absorbed, those with CF have
difficulty gaining and maintaining weight,
despite a healthy appetite and diet.
This mother pounds on her
daughter’s chest several times a day
in order to dislodge the thick mucous
from lung sacs and give some
Cystic Fibrosis is a breathing relief.
genetic disorder, with
over 95% of all cases
diagnosed in
Dwarfism is a genetic/genetic linked
disorder. All forms of dwarfism are
characterized by small stature. The
overwhelming majority of these
individuals enjoy normal intelligence,
normal life spans, and reasonably good
health. Medical problems are often
linked to orthopedic complications.

In most forms of dwarfism, only


the long bones are shortened.
This produces a body image
that is quite disproportionate.
Dwarfs, men and women, rarely
grow over 4’ 10” tall.
Sickle cell anemia is an inherited
blood disorder.
In sickle cell anemia, the body NORMAL ABNORMAL
produces an abnormal form of
hemoglobin. Hemoglobin, a
protein responsible for
Named after
transporting oxygen to all parts of
this cutting
the body, is a component of red
tool… a
blood cells.
sickle.

Sickle cell disease, also called sickle cell anemia,


primarily affects people of African descent, but
also occurs in some people of Mediterranean,
Middle Eastern and East Indian origin.
Among blacks, one newborn in 375 develops the
disease.
Symptoms often appear after the child
reaches the age of six months. One of the
first signs is painful swelling of the hands
or the feet or both. The child may cry
frequently and not eat much. The whites
of the eyes may appear yellow. The
tongue, lips, and palms may be paler than
normal. Children showing these
symptoms should be taken to a hospital,
where a blood test can show if the
problem is sickle-cell anemia.

When sickled cells clog blood vessels, pain most commonly affects the joints. A severe
crisis can also disrupt the work of the brain, the lungs, the heart, the kidneys, and the
spleen—sometimes with fatal consequences. Leg ulcers in the ankle region may persist for
years. Children risk seizures or strokes. Those with sickle-cell anemia are especially prone
to infectious diseases, since the disorder weakens natural defenses. Infection is a common
cause of death.
Prenatal Diagnosis
Prenatal Diagnosis
General Caveats about
Prenatal Diagnosis
• All couples have ~3% risk of having a child with congenital problems requiring
intervention
• No 100% guarantees - even if prenatal tests are ‘normal’
• All couples bring unique ethnocultural, moral, and/or religious perspectives to the process
• Use of non-judgmental, non-directive genetic counseling is important in helping families
make the best choice for them
• The decision to terminate or continue a pregnancy based on prenatal diagnostic findings is
never an easy decision
Goals of Prenatal Diagnosis and Counseling
• Assess pregnancy
• Determine specific risks to fetus
• Evaluate prenatal diagnostic options
• Diagnosis fetus when desired and possible
• Educate family about diagnosis, likely outcomes, potential and management
options
• Discuss risks, benefits, and uncertainties
• Explore family concerns
• Provide risk assessment for other family members
• Provide psychosocial support and follow-up
Who benefits from prenatal diagnosis?
• Older women (> 35) at increased risk of chromosome disorders
• Individuals in populations at increased risk of a genetic disease:
– Tay-Sachs: Ashkenazi Jews, French Canadians
– Sickle cell anemia: Africans, Mediterraneans, Arabs, Turks, Indo-Pakistanis
– Thalassemias: Mediterraneans, Arabs, Turks, Indo-Pakistanis, Southern and
Southeast Asians
– Cystic Fibrosis: Caucasians
– Fragile X syndrome: All women (?)
• Family history of a genetic disease/chromosome disorder
• Maternal disease associated with increased risk of birth defects (diabetes,
phenylketonuria)
• Known teratogen exposure during pregnancy
• Abnormal screening tests or ultrasounds
• Women who are concerned/worried
Prenatal Diagnosis Techniques
• Maternal Serum Screening Tests
– Triple screen (alpha-fetoprotein, beta-HCG, and estriol) for neural tube
defects and chromosome trisomies

• Visualization of the fetus


– Ultrasound - 2D and 3D
– Other (very special circumstances -X-ray, fetoscopy)

• Genetic and biochemical studies of fetal cells


– Amniocentesis
– Chorionic villus sampling
– Fetal blood sample (percutaneous umbilical sample)
– Circulating fetal cells in maternal blood
Ultrasonography
• Non-invasive - no known risks to mother or fetus
• 2-D, 3-D high resolution and fetal echocardiograms
• Assess fetal proportions, sex, position, growth; placenta, amniotic fluid
• Accurately estimate fetal age
• At 6 weeks can see developing embryo
• Between 16-20 weeks gestation is optimal time to screen for congenital anomalies for
prenatal diagnosis
• False positive and false negative findings - conditions with subtle findings may be missed,
(eg. trisomy 21)
Genetic Amniocentesis
• Invasive technique to obtain fetal cells
• Study chromosomes, DNA, or biochemical profile of fetus
• Approach via mother’s abdomen under ultrasound guidance
• Enough fluid after 14 weeks of gestation to perform safely
• Most often preformed between 15 and 20 weeks gestation
• Risks:
– fetal loss - < 0.5% higher than normally expected
– trauma and infection,
– risk of club foot reported when done < 13 weeks
• Later in pregnancy (eg. third trimester), amniotic fluid can be taken to assess fetal lung
maturity prior to a premature delivery
Chorionic Villus Sampling
• Invasive technique to obtain fetal cells
• Study chromosomes, DNA, or biochemical profile of fetus
• Most often approached through the vagina but may be approached through the abdomen
of mother
• Most often performed between 10-13 weeks gestation, but as early as 9 weeks and any
time after 13 weeks
• More genetic material from cells to study right away
• Risks:
– fetal loss rate slightly higher than amnio - about 1%
– Very slight risk of increased limb abnormalities if done < 10 weeks
– risk of infection
Percutaneous Umbilical
Blood sampling
• Invasive procedure to obtain fetal blood cells
• Study chromosomes, DNA, blood chemistries, or biochemical
• Needle under ultrasound guidance to obtain blood from umbilical vein
• Risks:
– Fetal loss rate higher than amnio or CVS (at least 2% mid-2nd trimester )
• Rarely needed except in special circumstances where results can not be obtained by
amniocentesis or CVS techniques
Indications for Offering
Amniocentesis or Chorionic Villus
Sampling
• Advanced maternal age
• Abnormal maternal serum marker test
• Family history of chromosome abnormality
• Genetic disease detectable by biochemical or DNA analysis
• Concerns of patient

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