Chapter 3: Prenatal Development and ➔ Dizygotic twins who are created from different

the First Three Years sperm cells and usually from different ova are
no more alike in hereditary makeup than any
Fertilization other siblings
● Also termed as conception; the process by ➔ Dizygotic twins usually run in the family and
which sperm and ovum (male/female have a genetic basis; monozygotic twins usually
gametes/sex cells) combine to create a zygote occur purely by chance
● Women ➔ The tendency toward twinning may be inherited
○ At birth, has around 2 million immature from a woman’s mother; dizygotic twins skip a
ova in the two ovaries which have their generation - a mother of dizygotic twins has
own follicle (small sac) only sons, to whom she cannot pass on the
○ In sexually mature women, ovulation tendency
(the rupture of a mature follicle in
either ovary and expulsion of its ovum) Mechanisms of Heredity
occurs around every 28 days until ● Heredity – the science of genetics; the inborn
menopause factors, inherited from one’s biological parents
○ The ovum is swept through the fallopian that affect development
tubes by the cilia (tiny hair cells), ● deoxyribonucleic acid (DNA)
toward the uterus ○ DNA is the genetic material in all living
● Men cells.
○ Sperm are produced in the testicles ○ Letters of the DNA alphabet
(testes/reproductive glands) at about ■ T= Thymine
several hundred million a day and are ■ A= Adenine
ejaculated in the semen at sexual climax ■ G= Guanine
○ The sperm swim through the cervix (the ■ C=Cytosine
opening of the uterus) and into the ○ The double-helix structure of DNA looks
fallopian tubes like a spiraling ladder. The steps are
made of pairs of chemical units called
Multiple Births bases
● Monozygotic twins ○ There are 3 billion base pairs in human
○ identical twins formed when one zygote DNA
splits into two separate masses of cells, ○ The bases are (A) Adenine, (T) Thymine,
each of which develops into a separate (C) Cytosine, (G) Guanine which are the
embryo. letters of the genetic code that the
● Dizygotic twins cellular machinery reads
○ often called fraternal twins ○ The bases are part of the DNA that
○ occur when two eggs each get fertilized stores information and gives the DNA
by two different sperm, resulting in two the ability to encode phenotypes
zygotes in the uterus at the same time. (visible traits)
● Semi-identical ● In some instances, bases can be mismatched,
○ the result of two sperm cells fusing with mismatched bases can cause inherited genetic
a single ovum; more genetically similar diseases, cancer and aging.
than dizygotic twins but less similar ● The mismatch repair pathway (MMR) –
than monozygotic twins specializes in the repair of mismatches; this can
be recognized by the MutS protein, the
recognition of mismatched bases is influenced
 by the sensing of an altered property of dsDNA ● Six to eight weeks after conception, male
instead of a specific molecular pattern embryos normally start producing the male
○ However, the change must be hormone testosterone which prompts the
significant enough to discriminate development of male sex organs
mismatches and canonical base pair ○ This process is not automatic and is
unambiguously signaled by the SRY gene which triggers
○ Dysfunction on the MMR has severe cell differentiation and formation of the
implication on the stability of genetic testes. Without this, female
information often connected with reproductive organs will develop
cancer instead
○ The MutS tests for the flexibility of the ○ The development of the female
DNA, the bending of a DNA may imply a reproductive system is controlled by a
presence of a mismatch signaling molecule called Wnt-4
○ Mismatched DNA are either repaired or ■ The SRY gene can only be found
excised entirely in the Y chromosome
● Chromosomes are coils of DNA that consist of ■ This causes a fetus to develop
smaller segments called genes, the functional gonads and prevents the
units of heredity development of female
● The human X chromosome (900 genes) is 3x reproductive organs
larger than the human Y chromosome (55 ● Initially, the embryo’s reproductive system is
genes) identical in males and in females
● The sequence of bases in a gene tells the cell
how to make the proteins that enable it to carry Defects in the SRY genes may cause:
out specific functions. The complete sequence 1. Swyer Syndrome
of genes in the human body constitutes the ● Also known as 46, XY complete gonadal
human genome. dysgenesis or 46, XY pure gonadal
● Every cell in the normal human body except the dysgenesis
sex cells (sperm and ova) has 23 pairs of ● It affects sex development
chromosomes—46 in all. ● Individuals with this condition have a
● Thus, when sperm and ovum fuse at male-typical chromosome pattern but
conception, they produce a zygote with 46 they develop female-typical sex
chromosomes, 23 from the father and 23 from characteristics
the mother ● SRY gene variants that cause Swyer
syndrome prevent the production of the
● Autosomes – 22 pairs of chromosomes that are sex-determining region Y protein or
not related to sexual expressions result in the production of a
● Sex Chromosomes – 23rd pair, one from the nonfunctioning protein.
mother and one from the father, that ● Without functional sex-determining
determines the baby’s gender region Y protein, a fetus will not
○ Mother – X chromosome develop testes but will develop a uterus
○ Father – Y chromosome and fallopian tubes, despite having an X
■ Girl – XX pair and a Y chromosome.
■ Boy – XY pair ● They have X and Y chromosome but
● Initially, the embryo’s reproductive system is look female and has female
identical in males and in females reproductive organs; however, their
 ovaries do not develop and are replaced the embryo that develop into the
by clumps of tissue uterus, fallopian tubes, cervix, and the
upper part of the vagina.
○ This protein is also involved in the
development of the ovaries, from
before birth through adulthood, and is
important for the development and
maintenance of egg cells (oocytes) in
the ovaries.
○ In addition, the WNT4 protein regulates
2. 46, XX testicular difference of sex development
the production of male sex hormones
● Individuals with this condition have a
(androgens).
female-typical chromosome pattern but
develop male sex characteristics
Defects in the Wnt-4 gene might cause:
including testes, though they may be
● Müllerian aplasia & Hyperandrogenism
small and undescended
○ affects the reproductive system of
● The condition results from an abnormal
females; has underdeveloped or absent
exchange of genetic material between Y
uterus and do not menstruate, they
chromosome and X chromosome; this
have abnormally high levels of
occurs as a random event during the
androgens which causes acne and
formation of sperm cells in the affected
excessive facial hair.
person’s father
● The SRY is misplaced always onto the X
Patter of Genetic Transmission
chromosome
● Gregor Mendel laid the foundation of our
understanding of the patterns of inheritance by
3. Other SRY gene variant disorders
crossbreeding pea plants that produced only
● The effects of these variants on the
yellow seeds and pea plants that produced only
function of the sex-determining region Y
green seeds
protein is less severe.
○ 46,XY – they have male-typical
● Alleles – two or more alternative forms of a
chromosome pattern, but they
gene that occupy the same position on paired
have external genitalia that is
chromosomes and affect the same trait
not clear male or female
○ Homozygous – possessing two identical
(ambiguous)
alleles
○ 46,XX – can cause Ovo testicular
○ Heterozygous – possessing differing
difference; female-typical
alleles for a trait
chromosome pattern and tissue
● Dominant Inheritance - when an offspring
from both female and male
receives contradictory alleles for a trait, only the
reproductive organs
dominant will be expressed
______________________________________________
● Recessive Inheritance - When the offspring
● The development of the female reproductive
receives identical recessive alleles resulting in
system is controlled by a signaling molecule
expression of nondominant or recessive trait
called Wnt-4
○ During the development of the female
reproductive system, the WNT4 protein
● Polygenic Inheritance – the interaction of
regulates the formation of the
several genes
Müllerian ducts, which are structures in
 ○ Example: skin color is the result of three ○ Example: you have inherited your
or more sets of genes on three different parents' trait in playing piano but you
chromosomes were not able to practice and hone your
● Mutation – permanent alterations in genetic inherited skills because you do not have
material the resources to do so
● Epigenesis – mechanisms that turn genes on or
off and determine functions of the body cells
○ Example: why a twin is sickly and the
other twin is healthy

Dominant or Recessive Inheritance of Defects

● when one parent has a dominant abnormal
gene and one recessive normal gene and the
other parent has two recessive normal gene,
each of their children has a 50-50 chance of
inheriting the dominant abnormal gene
● Recessive defects are expressed only if a child
receives the same recessive gene from each
Mendel Box
biological parent.
B=Brown eyes
● Defects transmitted by recessive inheritance are
b=Blue eyes
more likely to be lethal at an early age than
those transmitted by dominant inheritance
● If a dominantly transmitted defect is killed
before the age of reproduction, it cannot be
passed on to the next generation and thus
would disappear.
● A recessive defect can be transmitted by carriers
who do not have the disorder and thus may live
to reproduce
● Incomplete dominance – the pattern of
inheritance in which a child receives two
different alleles, resulting in partial expression
● Genotypes – the genetic makeup of a person,
of traits
containing both expressed and unexpressed
characteristics
Sex-linked Inheritance of Defects
● Phenotypes – observable characteristics of a
● Patter of inheritance in which certain
person
characteristics carried on the X chromosome
inherited from the mother are transmitted
The phenotype is the product of the genotype and
differently to her male and female offspring
environmental influences. The difference between the
● Sex-linked recessive traits are carried on one of
two helps explain why a clone and identical twin can
the X chromosomes of an unaffected mother,
never be exact duplicates
the mother is the carrier, she does not have the
disorder but can pass on the gene to her
● Multifactorial transmission – the combination
children
of genetic and environmental factors to produce
● Sex-linked disorders almost always appear only
certain complex traits
in male children; in females, because they have
 two X chromosomes, the dominant gene ● Genotype-environment interaction – effects of
overrides the defective gene. However, for similar environmental conditions on genetically
males, there is no opposite dominant X different individuals
chromosome to override the defective X
chromosome Genotype-environment correlation – strengthen the
phenotypic expression of a genotypic tendency:
Genetic and Chromosomal Abnormalities
Fragile X Syndrome 1. Passive correlation
● example of sex-linked defects ● Parents, who provide the genes that
predispose a child toward a trait, also
Chromosomal Abnormalities tend to provide an environment that
● Occurs due to errors in cell division resulting in encourages the development of that
an extra or missing chromosome trait
● Some of these errors happen during meiosis, 2. Reactive, or evocative, correlations
the likelihood of errors in meiosis increases in ● This type of correlation is called reactive
offspring of women aged 35 or older because the parents react to the child’s
● Other chromosomal abnormalities occur in the genetic makeup.
autosomes during cell division 3. Active correlations
○ Down Syndrome – also called ● As children get older and have more
trisomy-21 because it is usually caused freedom to choose their own activities
by an extra 21st chromosomes and environments, they actively select
or create experiences consistent with
Nature and Nurture: Influences of Heredity and their genetic tendencies.
Environment
● Developmental scientists look at both genes and
Prenatal Development
experience as operating directly on an organism Gestation
– developmental system ● period of development between conception and
○ From conception throughout life, birth
combination of constitutional factors
and social, economic, and cultural Gestational age
factors shape development ● usually dated from the first day of an expectant
○ Reaction range – potential variability mother’s last menstrual cycle
depending on environmental conditions
in the expression of a hereditary trait.
■ Heredity influences whether a
reaction range is wide or
narrow; heredity sets limits but
because development is
complex and the effects of
differing environments are
variable, these limits are
unknowable and their effects
unpredictable.
● Canalization – limitation on variance of
expression of certain inherited characteristics
Stages of Prenatal Development liver, pancreas, salivary glands,
● Both before and after birth, development and respiratory system
proceeds according to two fundamental c. Mesoderm – middle layer; will
principles: develop and differentiate into
1. growth and motor development occur the inner layer of skin, muscles,
from top-down and skeleton, and excretory and
2. from the center of the body outward circulatory systems

● The blastocytes will develop into organs that

will protect the womb:
1. Germinal Stage (fertilization to 2 weeks) ○ amniotic cavity
● The zygote divides, and is implanted in ○ Placenta
the wall of the uterus ○ umbilical cord
● Characterized by rapid cell division,
blastocyst formation and implantation 2. Embryonic Stage (2 to 8 weeks)
in the wall of the uterus ● Characterized by rapid growth and
● Within 36 hours after fertilization, the development of major body systems
zygote enters a period of rapid cell and organs
division and duplication (mitosis). ● Critical period when the embryo is most
● Seventy-two hours after fertilization, it vulnerable to destructive influences in
has divided first into 16 and then into the prenatal environment
32 cells; a day later it has 64 cells. ● Spontaneous abortion (miscarriage) –
● This division will continue until the expulsion from the uterus of an embryo
original single cell has developed into or fetus that is unable to survive
the 800 billion or more specialized cells
that make up the human body—a 3. Fetal Stage (8 weeks to birth)
process that continues well after birth ● The appearance of the first bone cells
● Before implantation, the embryonic disk signals the beginning of the fetal stage
(a thickened cell mass) will become: ● The fetus grows rapidly to about 20x its
previous length and organs and body
a. Ectoderm – upper layer; will systems become more complex
become the outer layer of skin, ● Characterized by increased
nails, hair, teeth, sensory differentiation of body parts and
organs, and NS including brain enlargement of body size
and spinal cord ● Male fetuses, regardless of size, are
b. Endoderm – lower layer; will more active and tend to move more
become the digestive system, vigorously than female fetuses
throughout gestation.
 ● Beginning at about the 12th week of
gestation, the fetus swallows and
inhales some of the amniotic fluid – this
stimulates the budding of senses of
taste and smell and may contribute to
the development of organs needed for
breathing and digestion
Environmental Influences: Maternal Factors
1. Nutrition and Maternal Weight
The Three Trimesters
● The expectant mother should intake
1. First Trimester (0 – 13 weeks)
enough nutrients for herself and the
● Most crucial, during this period, the
fetus; 300-500 additional calories a day,
baby’s body structure and organ
including extra protein
systems develop
● Most miscarriages and birth defects
2. Malnutrition
occur during this period
● Nausea, fatigue, breast tenderness, and
3. Drug intake – drugs cross the placenta
frequent urination are experienced
● Medical drugs
○ antibiotic, barbiturates, opiates,
CNS depressants, nonsteroidal
anti-inflammatory drugs (eg.,
ibuprofen) have been linked to
birth defects when taken
anytime from the first trimester
2. Second Trimester (14 – 26 weeks)
● Alcohol
● Termed as “golden period”, the majority
○ Fetal Alcohol Syndrome (FAS)
of pregnancy symptoms disappear here;
○ combination of mental, motor,
better sleep patterns, and increased
and developmental
energy level
abnormalities.
● Nicotine - a significant predictor for low
birth weight; increased risk of
miscarriage, growth retardation,
stillbirth, SID, and colic among others.
● Caffeine - four or more cups of coffee a
3. Third Trimester (27 – 40 weeks) day during pregnancy may increase SID;
● Symptoms may include shortness of it also increases the chance of
breath, hemorrhoids, urinary miscarriage
incontinence, varicose veins, and ● Marijuana, Cocaine, and
sleeping problems Methamphetamine
○ heavy marijuana use can lead to
birth defects, low birth weight,
increased risk of attention
disorders and learning
problems.
○ Cocaine use has been
associated with spontaneous
abortion, delayed growth,
 premature labor, low birth or undersized or have chromosomal
weight, small head size, birth abnormalities
defects, and impaired ● Exposure to high concentrations of
neurological development disinfection by-products is associated
○ Methamphetamine causes low with low birth weight and slowed fetal
birth weight and to be small for growth
their gestational age

4. Maternal illnesses
● Acquired immune deficiency syndrome
(AIDS)
● Rubella (German measles) – if
contracted before the eleventh week of
gestation, is almost certain to cause
deafness and heart defects
● Toxoplasmosis – a parasite in cattle,
sheep, pigs, and cats produces no
symptoms or causes common cold in
expectant mothers, however in the 2nd
and 3rd Trimester it can cause brain Environmental Influences: Paternal Factors
● A man’s exposure to lead, marijuana, or tobacco
damage, severely impaired eyesight,
smoke, large amounts of radiation, pesticides,
blindness, seizures, miscarriage,
or high ozone levels may result in poor-quality
stillbirth, or death.
sperm
● fathers had diagnostic X-rays within the year
5. Maternal Anxiety and Stress
prior to conception or had high lead exposure at
● Moderate maternal anxiety may impede
work tended to have low birth weight and
the developing brain
slowed fetal growth
● Maternal stress may cause cleft life,
● Nicotine may have increased likelihood of
cleft palate, and heart malformations
transmitting genetic abnormalities

6. Maternal Age
● Miscarriages reaches 90% for women
age 45 and older
● Women over 30-35 are more likely to
suffer complication dues to diabetes,
HBP, higher risk of premature delivery,
retarded fetal growth, birth defects,
chromosomal abnormalities, and Down
syndrome

7. Outside Environmental hazards

● Pregnant women who regularly breathe
air that contains high levels of fine
combustion-related particles are more
likely to bear infants who are premature