Human Anatomy & Physiology II – Dr.

Sullivan
Unit X - Human Development & Genetics
Chapter 29 & Chapter 4 (Section 4.4 only)
I. Developmental biology overview
a) The study of the sequence of events from fertilization of the secondary oocyte until the formation
of an adult organism
b) Pregnancy begins with fertilization of the secondary oocyte (formation of a zygote) proceeds to
implantation of the zygote on the uterine wall, embryonic development (1st 8 weeks), to fetal
development (last 30-32 weeks), and ends with birth at about 38-40 weeks after the last menstrual
cycle.
c) Obstetrics: the branch of medicine dealing with the management of pregnancy, labor, and the
neonatal (newborn) period (28 days after birth).
d) Prenatal Development: the time between fertilization and birth
i) Divided into 3 trimesters each lasting 3 calendar months.
(1) First Trimester: most critical stage
(a) rudiments of all major organ systems appear
(b) most vulnerable to the effects of drugs, radiation, and microbes
(2) Second Trimester: nearly all organ systems complete their
(a) at end of stage, fetus has distinctly human features
(3) Third Trimester: rapid fetal growth
(a) most organ systems become fully functional during this trimester
II. Embryonic Period
a) From fertilization through the first 8 weeks of development
b) Fertilzation: the process in which the genetic material from a haploid sperm cell merges with that
of a haploid secondary oocyte creating a single diploid nucleus.
i) Usually occurs in the uterine tube
(1) Approx. 300 million sperm are released into the vagina, approx. 2 million reach the
cervix and only 200 reach the secondary oocyte
(2) Sperm can last for up to 6 days after ejaculation in the female reproductive organs.
(3) The secondary oocyte can last up to 24 hours after ovulation.
(a) Therefore, there is approx. a max. 1 week window around ovulation that fertilization
if most likely to occur.
ii) The plasma membrane of secondary oocyte is covered by two layers
(1) The outer granular layer is called the corona radiata
(2) The inner glycoprotein layer is called the zona pellucida
(a) The zona pellucida contains a glycoprotein called ZP3, which acts as a sperm
receptor.
(b) ZP3 helps to activate the acrosome on the sperm’s head and release its digestive
enzymes so it can digest its way through the zona pellucida and into the secondary
oocyte as the tail of the sperm continues to push the sperm onward.
(3) In order for fertilization to occur, the head of the sperm must penetrate the plasma
membrane of the secondary oocyte.
(4) Once the first sperm penetrates and the two gametes are fused as one, called syngamy,
the zona pellucida hardens and no other sperm cells are allowed to enter.
(5) Once the sperm cells enters, the secondary oocyte undergoes meiosis II, dividing into a
larger ovum (mature egg cell), and a smaller polar body, which disintegrates.
(6) The sperm’s nucleus develops into the male pronucleus and the nucleus of the fertilized
ovum develops into the female pronucleus.
(7) The two pronuclei fuse, producing a single diploid nucleus containing 23 pairs of
chromosomes (23 from male and 23 from female).
(a) That nucleus is the nucleus of a new cell called a zygote (a fertilized ovum).
iii) Twins
(1) Dyzygotic Twins (fraternal): When two independent secondary oocytes are released and
subsequently fertilized by two different sperm.
 (a) Same age, grow in the same uterus, but are not indentical because they grew from
two separate sets of gamets.
(2) Monozygotic Twins (identical): develop from a single fertilized ovum that splits into
two separate embryos within 8 days of fertilization.
(a) Same sex, identical genetic material
(b) Conjoined Twins: when a fertilized ovum splits into two embryos after 8 days post-
fertilzation.
(i) Twins are joined together and share some body structures.
c) Cleavage of the zygote
i) After fertilization, the zygote undergoes rapid cell division called cleavage
ii) Each smaller cell produced by the division is called a blasotmere and by the 4th day there is a
solid sphere of blastomeres called a morula
iii) During this time the zygote is moving through the uterine tube toward the uterus
iv) After the morula enters the uterine cavity at day 4 or 5, the blastomeres reorganize around a
fluid-filled cavity called a blastocyst cavity
v) The developing mass is a group of hundreds of cells called a blastocyst and is still about the
same size as the original zygote.
vi) The blastomeres continue to rearrange and form two distinct structures:
(1) The inner cell mass: the internal portion which will develop into the embryo
(2) The trophoblast: the outer superficial layer of cells that will eventually become the fetal
portion of the placenta
(a) Placenta: the site of exchange of nutrients and wastes between the mother and the
fetus
vii) On about day 5 after fertilization, the blastocyst uses an enzyme to digest a hole in the zona
pellucida and squeezes through, shedding the zona pellucida and getting ready to implant on
the uterine wall.
d) Implantation
i) After about 7 days after fertilization and 2-3 days after being free in the uterine cavity, the
blastocyst firmly attaches itself to the endometrium.
ii) The endometrial glands enlarge and the endometrium becomes more vascularized.
iii) Ectopic Pregnancy: if the zygote implants somewhere other than the uterine wall
(1) Most commonly in the uterine tube (“tubal pregnancy”) but can be in the ovary, cervix,
or abdominal cavity.
(2) Usually caused by impaired movement of the zygote through the uterine tube.
(a) Possible causes: scarring of the tube from previous injury or infection, decrease
smooth muscle function, abnormal tubal anatomy.
(b) Also, nicotine-induced paralysis of the cilia of the tube make smokers twice as likely
than non-smokers to have ectopic pregnancies.
(c) Ectopic pregnancies must be terminated to avoid rupture of the uterine of the uterine
tube and, in turn, great harm to the mother.
e) Second Week of Development
i) The trophoblast develops into two layers and allow the blastocyst to penetrate the uterine
lining and become buried in the endometrium and myometrium.
ii) The trophoblast becomes part of the chorion, one of the fetal membranes.
iii) The trophoblast releases a hormone called human chorionic gonadotropin, rescuing the
corpus luteum from degeneration and preventing the degeneration and shed of the
endometrium, by continuing to secrete estrogen and progesterone.
iv) Development of the Bilaminar Embryonic Disc
(1) About 8 days post-fertilization, cells of the inner cell mass differentiate into two layers
(a) Hypoblast (aka primitive endoderm): columnar cells on the blastocyst side
(b) Epiblast (aka primitive ectoderm): cuboidal cells on the endometrial side
(c) The two layers together are called the Bilaminar Embryonic Disc
(d) a small cavity appears within the epiblast called the amniotic cavity
(i) Development of the Amnion (about 8 days post-fertilization)
 (ii) The amnion is a thin wall that separates the amniotic cavity from the
myometrium, but will eventually surround the entire embryo as the amniotic sac
and fill with amniotic fluid (filtered from maternal blood).
(iii) Amniotic fluid serves as a schock absorber for the fetus, regulates fetal
temperature, prevent dehydration (dessication), and helps prevent adhesions
between the skin of the fetus and surrounding tissues.
1. Embyonic cells are usually shed into the amniotic fluid and can be
examined by taking a sample of the amniotic fluid in an amniocentesis.
(iv) The amniotic sac ruptures just prior to birth (“water breaks”)
v) The yolk sac
(1) The blastocyst cavity eventually develops in to the yolk sac about 9 days post-
fertilization.
(2) The yolk sac is relatively small and empty and decreases in size as development
progresses.
(3) Functions of the yolk sac:
(a) Transfers nutrients to the embryo during 2nd and 3rd weeks while utero-placental
circulation is being established
(b) Source of blood cells from 3rd to 6th weeks of development
(c) Contains first cells that will develop into the gonads
(d) Forms part of the gastrointestinal tact
(e) Shock absorption for embryo
(f) Helps Prevent dessication
vi) Chorion Development
(1) surrounds the embryo and fetus
(2) eventually becomes part of the embryonic placenta and allows exchange of materials
between mother and fetus.
(3) produces hCG
(4) Protects fetus from mother’s immune responses by blocking the production of antibodies
against the fetus and by producing t-lymphocytes suppressing normal immune responses.
(5) Connecting stalk: future umbilical cord connecting the amnion to the trophoblast
f) Third Week of Development
i) Begins a 6-week period of rapid development
ii) Gastrulation: 3 primary germ layers are formed from the transformation of the bilateral
embryonic disc into a 2-dimensional trilaminar (three-layers) embryonic disc.
(1) Endoderm, Mesoderm, Ectoderm
(a) Eventually develop into the organs of the body.
(2) Primitive Streak: a faint groove forms as cells rearrange themselves for formation of the
3 germ layers.
(a) clearly establishes the head and tail ends of the embryo and the right and left sides
(b) At the head end of the primitive streak, a small group of cells form a rounded
structure called the primitive node.
(c) Invagination: cells of the epiblast move inward below the primitive streak and
detach from the epiblast.
(i) After invagination the cells displace the hypoblast forming the endoderm.
(3) Endoderm will become the epithelial lining of the GI tract, respiratory tract and several
other organs
(4) Other cells remain between the epiblast and newly formed endoderm forming the
mesoderm
(a) Will become muscle, bone, other CT, and the peritoneum
(5) Cells remaining in the epiblast become the ectoderm
(a) Becomes the epidermis and the nervous system
(b) After 16 days post-ferilization a hollow tube of cells is formed from the cells of the
primitive node called the notochordal process.
(c) This process becomes a solid cylinder of cells in the midline called the notochord
(d) Induction: the process by which one tissue stimulates the development of an
adjacent unspecialized tissue into a specialized one.
 (i) The notochord induces mesodermal cells to develop into the vertebral bodies
and nucleus pulposis of the IVDs.
(6) During the third & fourth weeks an oropharyngeal membrane (mouth & pharynx) at the
head end of the embryo and a cloacal membrane (anus and opening to urinary & repro.
tracts) at the tail end are formed which will eventually become the digestive tract.
(7) Neurulation
(a) The notochord induces the ectodermal cells to form the neural plate
(b) At the end of the 3rd week, the lateral edges elevate and form the neural fold, the
depressed midregion is called the neural groove.
(c) The neural folds continue to grow together and fuse, creating a neural tube.
(d) This process starts in the middle of the embryo and progresses toward the head and
tail ends.
(e) The neural tube cells with eventually develop into the brain and spinal cord.
(8) Somites
(a) By about day 17, the mesoderm develops into a series of paired, cubed structures
called somites.
(b) 42-44 somites are present by the end of the 5th week.
(c) The number of somites present can approximate the age of the embryo.
(i) Each somite differentiates into 3 different regions:
1. Myotome: develops into the skeletal muscles of the neck, trunk, and limbs.
2. Dermatome: develops into connective tissue, incl. the dermis of the skin
3. Sclerotome: develops into the vertebrae
(9) Intraembryonic Coelem
(a) In the 3rd week, small spaces appear in the mesoderm, which eventually merge
forming a large cavity called the intraembryonic coelem
(b) this coelem eventually splits and gives rise to the pericardial (around the heart),
pleural (around the lungs), and peritoneal (around the abdominal organs) cavities.
(10) Cardiovascular system
(a) Around the 3rd week of development, the mesoderm begins to form the blood vessels
and the heart.
(11) Placentation: the process of forming the placenta, the site of exchange of nutrients and
wastes between the mother and fetus.
(a) Placenta also produces hormones needed to sustain pregnancy.
(b) Fully developed, the placenta is shaped like a pancake.
(c) Oxygen and nutriens pass from the maternal blood into the fetal blood while carbon
dioxide and wastes pass from the fetal blood into the maternal blood.
(d) A protective barrier in the placenta helps prevent the passage of certain
microorganisms through the placenta protecting the fetus from disease.
(e) However, certain viruses, such as the ones that cause AIDS, german measles,
chickenpox, measles, encephalitis, and poliomyelitis, can cross the placenta.
(f) Placenta stores nutrients such as Ca, Fe, CHO, & Proteins that can be released to the
fetus when necessary.
(g) Many drugs, alcohol, and other substances can also freely pass through the placenta
and possibly cause birth defects.
(i) i.e. nicotine, caffeine, narcotics, etc.
(h) The placenta is shed after birth and therefore referred to as afterbirth.
(12) Umbilical Cord
(a) The umbilical cord is the actual connection between the embryo/fetus and the
placenta.
(b) Contains 2 umbilical arteries carrying deoxygenated fetal blood to the placenta from
the fetus and 1 umbilical vein carrying oxygenated maternal blood to the fetus.
(c) Along with the lungs this is one of only two places in the entire human body where
arteries contain deoxygenated blood and veins contain oxygenated blood.
(d) After birth, the umbilical cord is tied off and cut leaving the baby on its own. After
about 12-15 days the remnant of the umbilical cord withers and falls off.
 (i) The area where the umbilical cord was covers with a layer of skin and becomes
a scar called the umbilicus (aka navel)
g) Fourth to Eighth week of development
i) All major organs begin to appear during this time, termed organogenesis.
ii) Through a process called embryonic folding, during the 4th week, the embryo triples and size
and converts from a 2-diminsion tri-laminar disc to a 3-dimensional cylinder.
iii) The folding is caused by different rates of growth of different parts of the embryo, especially
the rapid growth of the nervous system (neural tube).
iv) By the middle of the 4th week, outgrowths of mesoderm covered by mesoderm begin to form
called upper limb buds, which will give rise to the upper limbs.
v) By the end of the 4th week, the lower limb buds, with the same composition as the uppers,
form.
vi) The heart prominence, eventually becoming the heart.
vii) By the end of the 4th week, a tail is a distinguishing feature of an embryo.
h) 5th through 8th week
i) Due to rapid growth and development of the brain, the head grows considerably during the 5th
week.
ii) During the 6th week, the head grows larger than the body in proportion and the limbs show
substantial development.
iii) The heart is now 4-chambered and the neck and the trunk begin to straighten.
iv) 7th week: digits appear on the limbs.
v) 8th week: The final week of embryonic period
(1) tail is still visible, but shorter, and digits are short and webbed.
(2) Eyes are open and ears are visible
(3) By end of 8th week, eyelids form and may fuse closed
(4) Digits lose their webbing
(5) Tail disappears
(6) External genitals begin to differentiate
III. Fetal Period
a) Tissues and organs that developed during the embryonic period continue to grow and differentiate.
b) Very few new structures appear during this time, but the rate of body growth is rapid
i) Especially from weeks 9-16
c) Weeks 9-12
i) Approx. 3” long and 1 oz. in weight
ii) Head is ½ the full fetal length
iii) Eyes fully developed, closed, and far apart
iv) Fetal length nearly doubles
v) Bridge of nose develops
vi) Ossification of cartilage model continues
vii) Gender is distinguishable
viii) Fetus begins to move, undetectable by mother
d) Weeks 13-16
i) Approx. 6.5-7” and 4 oz.
ii) Head is relatively smaller than rest of body
iii) Eyes move medially to their final positions
iv) Rapid development of body systems
e) Weeks 17-20
i) Head more proportionate to body
ii) Eyebrows and head hair visible
iii) Growth slows
iv) Fetal movements commonly felt by mother
f) Weeks 21-25
i) 11-14” and 8-16oz.
ii) Substantial weight gain
iii) Skin is pink and wrinkled
iv) Surfactant (necessary for lung function) begins to develop
 g) Weeks 26-29
i) Approx. 13-17” and 2.5 to 3 lbs.
ii) Eyes are open
iii) Toenails visible
iv) Subcutaneous fat smoothes out wrinkles
v) Major blood cells production
vi) Testes begin to descend toward scrotum
vii) Premature babies in this stage can survive in intensive care
viii) lungs can ventilate air and nervous system enough to control breathing and body temp.
h) Weeks 30-34
i) Approx. 16.5-18” and 4.5 to 5lbs
ii) Skin is pink and smooth
iii) Fetus assumed upside down postion
iv) Usually survive premature birth after 33 weeks.
i) Weeks 35-38
i) Approx. 20” and 7-7.5 lbs.
ii) Bluish Pink skin
iii) Growth slows as birth approaches
iv) Testes usually in scrotum in full-term males
v) Complete development of the nervous system requires another year after birth
vi) Immune system not fully developed until 2 years old.

IV. Maternal Changes During Pregnancy

a) Anatomical Changes
i) In the first 3-4 months, The corpus luteum continues to secrete progesterone and estrogen to
maintain the endometrium for pregnancy and prepare the mammary glands to secrete milk.
(1) However, in no more amounts than it does during ovulation
(2) From the 3rd month to the end, the placenta itself provides the high levels of these
hormones.
ii) hCG hormones decrease during the 4th & 5th months and level off until birth
iii) A high level of progesterone also ensures that the myometrium is relaxed and the cervix is
tightly closed.
iv) Relaxin is a hormone first secreted by the corpus luteum and later by the placenta to increase
the flexibility of the pubic symphysis and the sacroiliac and sacrococcygeal joints in other
animals to ease child birth.
(1) this role of relaxin, is not found in humans. However, estrogen in humans acts to
increase the flexibility and elasticity in the pelvic joints during pregnancy.
v) CRH (corticotrophin releasing hormone) is a hormone that is secreted by the hypothalamus of
the brain in non-pregnant people, but is also used as the “clock” of childbirth in pregnancy.
(1) Secretion begins about week 12 and continues to increase until birth, determining when
the baby will be delivered.
(2) Women who have higher levels of CRH earlier in pregnancy are more likely to deliver
prematurely and vice versa.
vi) By the end of the 3rd month, the uterus occupies most of the pelvic cavity as the fetus
continues to grow.
(1) The uterus continues to expand higher and higher into the abdominal cavity until
eventually, toward the end of pregnancy, it nearly fills the abdominal cavity.
vii) Reaching above the costal margin (ribs) and nearly to the xiphoid process.
i. The full uterus pushes the maternal intestines, liver, and stomach
superiorly, elevates the diaphragm, and widens the thoracic cavity.
viii) Pressure on the stomach may force its contents into the esophagus, causing heartburn.
ix) Pressure inferiorly on the ureters and urinary bladder causes the feeling of having to urinate.
b) Physiological Changes
i) Weight gain due to the presence of the fetus, amniotic fluid, placenta, urterine enlargement, &
fluid retention,
ii) Breast enlargement for preparation to secrete milk
 iii)
Increased storage of proteins, triglycerides, minerals for nutrition of the fetus
iv)Lower back pain due to increased lordosis
v) Cardiovascular output increases (mother pumps more blood)
vi)Pulmonary function increases (mother breathes more oxygen)
vii)
Appetite increases to meet the higher nutritional demand
(1) Also, a decrease in GI motility (the movement of food through the GI tract) due to the
displacement of the intestines can cause constipation, nausea, vomiting, and heartburn.
viii) Skin changes can occur:
(1) Increase pigmentation around the eyes and cheekbones (chloasma), in the areolae of the
breasts, & the linea alba of the abdomen (line nigra).
(2) Striae (stretch marks) causes by damage to the dermis can occur over the abdomen due to
uterine enlargement.
V. Labor: the process of the fetus being expelled from the uterus through the vagina.
a) Progesterone inhibits uterine contractions therefore, progesterone effects must be diminished
before labor.
b) Estrogen levels rise sharply at the end of gestation (pregnancy), inhibiting the effects of
progesterone.
c) The fetus begins to secrete its own hormones at this point to assist in labor.
d) A positive feedback loop occurs during childbirth (aka parturition), to control labor contractions.
i) Contractions of the myometrium foce the baby’s head toward the cervix, thereby distending it.
ii) Stretch receptors in the cervix send nerve impulses to the hypothalamus of the brain causing it
to release a hormone called oxytocin
iii) Oxytocin is carried by the blood to the uterus where it stimulates the myometrium to contract
more forcefully.
iv) As the baby moves further into the cervix, it causes further distention and continues the
process.
v) When the baby finally leaves the mother, the cervix distention suddenly lessens and the loop
is broken as the stretch receptors are no longer activated.
e) Uterine Contractions occur in waves beginning at the superior uterus and waving contraction
toward the inferior uterus.
f) False Labor: pain is felt in the abdomen at irregular intervals, not intensifying and unchanged by
walking. No sign of cervical dilation and/or the baby’s head.
g) True Labor: when contractions occur at regular intervals, producing pain. Divided into 3 stages:
h) Stage of Dilation: from onset of labor to complete dilation of the cervix.
i) Typically lasts about 6-12 hours.
ii) Regular contractions
iii) Rupture of the amniotic sac
iv) 10 cm dilation of the cervix
i) Stage of Expulsion: From complete cervical dilation to expulsion of the baby
i) Can be 10 minutes to several hours
j) Placental Stage: after delivery until the placenta (aka afterbirth) is expelled from the uterus by the
powerful uterine contractions
i) The contractions also constrict blood vessels, reducing the risk of hemorrhage from broken
blood vessels.
k) Post-partum: after birth of baby
i) Puerperium: The 6-week period during which the mother’s reproductive organs typically
return to the pre-pregnancy state.
ii) Involution: The uterus undergoes a rapid reduction in size and the cervix loses its elasticity
and regains its firmness.
iii) Lochia: for 2-4 weeks after delivery, the mother experience a uterine discharge consisting of
blood and serous fluid from the former site of the placenta.

VI. Inheritance: The passage of traits from one generation to the next, or the process of acquiring the
characteristics from your parents and passing them down to your children.
a) Genetics: the branch of biology that studies inheritance
b) Genotype & Phenotype
 i) The nuclei of all human cells except gametes contain 23 pairs of chromosomes.
ii) In each pair, one chromosome came from the mother and one from the father.
(1) One of the two chromosomes that make up a specific pair is called a homologue
(2) The two chromosomes that have genes that determine hair color (one from dad, one from
mom) are homologues to each other.
(3) Alternative forms of a gene that controls the same trait (i.e. hair color) is called an allele.
(a) I.e. there is an allele for fine hair and an allele for coarse hair.
(4) Mutation: a permanent heritable change in an allele that produces a different variant of
the same trait.
c) Relating Genes to Heredity
i) Phenylketonuria (PKU): a disorder in which people do not produce the enzyme, phenyalanine
hydroxylase to break down the amino acid, phenyalanine.
(1) Can cause a buildup of phenyalanine in the brain and possibly mental retardation.
(2) The normal allele that codes for phenylalanine hydroxylase is symbolized as P.
(3) The mutated allele that codes for the inability to produce the enzyme is symbolized as p.
(4) Punnett Square: the chart that helps predict the likelihood of what traits a child will
inherit from his/her parents based on what alleles they contribute.
(a) A square chart divided into boxes
(b) The possible alleles from the sperm are written on the left and the possible alleles
from the ova are written on the top.
(c) The spaces in the chart show how the alleles can combine in a zygote formed by the
union of this particular sperm and ova.
(d) This combination is called a genotype
(e) In this example, there are 4 squares on the chart that display possible genotypes.
(f) The Dominant allele is one that overrides another homologous allele and will express
itself.
(i) i.e. the allele for normal phenylalanine hydroxylase production is dominant,
and the mutated allele is recessive therefore if a zygote receives a P from one
parent and a p from another, that zygote will not have PKU because the presence
of the normal allele (in this case) suppresses the expression of the mutated allele.
(g) Therefore, zygotes with PP or Pp, will both be free from PKU and only zygotes
with pp will have PKU.
(5) A person with the same alleles for a specific trait (i.e. PP or pp) is said to homozygous
for the trait.
(a) PP is “homozygous dominant”
(b) pp is “homozygous recessive”
(i) this is required to express a recessive allele, in this case, for the zygote to have
PKU.
(c) A person with different alleles for a specific trait (i.e. Pp) is said to heterozygous for
the trait.
ii) Phenotype: how the genetic make-up is expressed in the body (the physical or outward
expression of as gene).
(1) i.e. a zygote with PP and a zygote with Pp have different genotypes, but the same
phenotype.
(2) Heterozygous (Pp) people who have the recessive gene but do not express it, can pass it
on to their children and are therefore referred to as carriers of the recessive gene.