CHAPTER 1:

PRENATAL
DEVELOPMENT
AND BIRTH
MECHANISMS OF HEREDITY
[Link]:
• Human eggs contain 23 chromosomes selected from
the mother’s 46
• Human sperm contain 23 chromosomes selected from
the father’s 46
• Think of it as mixing two hands of cards
(1 from mother and 1 from father), shuffling this mix,
and then dealing a hand of cards
• The dealt hand is your 23 pairs of chromosomes
2. Egg and sperm united:
• The human egg and sperm unite, resulting in a zygote
that contains a complete set of 23 paired chromosomes
(46 in total)
• The 46 chromosomes contain around 25,000 genes
• Autosomes are the first 22 pairs of chromosomes
• Sex chromosomes: 23rd pair determines the child’s sex

Sex chromosomes (23rd pair)

i. Males: XY chromosomes:
X from mother and Y from
father
ii. Females: XX chromosomes:
X from mother and X from
father
3. DNA (deoxyribonucleic acid): each
chromosome consists of one DNA molecule.
• DNA is instructional code for cells to
create amino acids, proteins, and
enzymes.
• DNA instructional code is a double string
of chemical compounds:
 A (adenine)
 T (thymine)
 G (guanine)
 C (cytosine)
• The Organization of DNA:
 DNA: order of A, C, T, and G and the
number of each creates the code
 Gene: a group of compounds that
provides a specific set of biochemical
instructions
4. Genotype and Phenotype:
• Genotype: complete set of genes one has inherited
• Phenotype: combination of genotype and environmental
influences resulting in the actual expression of traits
i. Physical
Basics of Genetics
ii. Behavioral • Dominant trait – one trait expressed
iii. Psychological when two competing traits are
expressed
• Recessive trait – a trait present in an
organism but not expressed
• Genotype – the underlying
combination of genetic information
(not outwardly visible)
• Phenotype – an observable trait
• Homozygous - Similar genes for a
given trait that are inherited from
parents
• Heterozygous – Different forms of a
gene for a given trait inherited from
5. Alleles:
• The interaction of genes on each pair of chromosomes produces traits.
• Each chromosome of a pair contains one parent’s gene contribution to a
specific trait.
• Alleles: different forms in which genes come: each allele carries
instructions for a specific variation on a trait.
• Homozygous/Heterozygous Alleles
i. Homozygous alleles: When alleles are the same, both parents
have contributed similar genes for a trait. Eg: both parents
contribute the allele instructions for the same colored eyes
ii. Heterozygous alleles: The parents have contributed different
versions of the trait. Eg: one parent contributes the allele for blue
eyes and the other for brown eyes
Dominant vs. Recessive Alleles:
• Certain alleles are dominant over other
alleles. The dominant allele’s instructions
are followed, but the recessive is ignored
• Other alleles are recessive. Recessive
instructions are followed only if both alleles
are recessive (one form of a homozygous
condition)
• Incomplete dominance can lead to a
phenotype that falls in between the
phenotype associated with either the
dominant or the recessive allele. Eg: a
mild form of the sickle-cell trait that
appears under vigorous physical exertion

Single-Gene Inheritance
TWO TYPES OF GENETIC DISORDERS

i. Inherited disorders: often involve two recessive

alleles
• Examples: sickle-cell disease, PKU
…but some involve a dominant allele
• Example: Huntington’s disease
ii. Abnormal chromosomes: extra, missing, or damaged
chromosomes that result in abnormal development
• Examples: Down syndrome, Turner’s syndrome, Klinefelter’s
syndrome
PATHS FROM GENES TO BEHAVIOR

• Heredity and environment interact dynamically

throughout development: Heritability coefficients
• Genes can influence the kind of environment to which a
person is exposed: Niche picking
• Environmental influences typically make children within a
family different: Nonshared environmental influences
Key Questions
• What happens to a fertilized egg in the first two weeks
after conception?
• When do body structures and internal organs emerge in
prenatal development?
• When do body systems begin to function well enough to
support life?
PERIODS OF PRENATAL DEVELOPMENT

• Prenatal development takes an average of 38 weeks (time

measured from date of conception. Usually occurs about
two weeks after woman’s last menstrual period).
• Divided into three periods:
i. Period of the zygote (weeks 1-2)
ii. Period of the embryo (weeks 3-8)
[Link] of the fetus (weeks 9-38)
The Zygote
Period of the zygote (weeks 1-
2):
• After fertilization (natural or in
vitro), the zygote travels down
the fallopian tube and is
implanted in the uterine wall.
• Implantation triggers
hormonal changes to prevent
menstruation.
• Center of zygote contains the
germ disc (cells that develop
into a baby).
• Other cells form the placenta,
which supports the baby’s
development.
The Embryo

Period of the embryo (weeks 3-8):

• Body structures, internal organs, and the three layers of the
embryo develop:
i. Ectoderm (outer layer: becomes hair, skin, nervous system)
ii. Mesoderm (middle layer: becomes muscles, bones,
circulatory system)
iii. Endoderm (inner layer: becomes digestive system and
lungs)
• The amniotic sac fills with fluid; the umbilical cord connects the
embryo to the placenta.
• The umbilical cord’s blood vessels join the placenta to the
embryo (allow exchange of nutrients, oxygen, vitamins, and
waste products between mother and embryo).
The Fetus
• Period of the fetus (weeks 9-38): begins at week 9 and ends at
birth
• Fetus becomes much larger and bodily systems begin to function
• Final development of many systems essential to human life occurs
All regions of the brain grow, particularly the cerebral cortex
Week 9: differentiation of the ovaries and testes
• Period of the fetus (weeks 9-38)
Week 12: circulatory system begins to function
Week 16: movements felt by mother
Week 20: eyebrow, eyelashes, scalp hair (skin thickens and is
covered by protective greasy substance (vernix))
Weeks 22-28: age of viability
Weeks 22 and beyond: senses active; fetus can remember
Key Questions

• How is prenatal development influenced by a pregnant person’s age, nutrition, and

the stress experienced while pregnant?
• How do diseases, drugs, and environmental hazards sometimes affect prenatal
development?
• What general principles affect the ways that prenatal development can be harmed?
• How can prenatal development be monitored? Can abnormal prenatal development
be corrected?
GENERAL RISK FACTORS

• Nutrition: A pregnant woman should increase both her caloric and

nutrient intake.
• Stress: Causes greater harm when experienced early in pregnancy.
• Mother’s age: Prenatal development is most likely to proceed
normally when women are between 20 and 35 years of age.
Teratogens: Drugs, Diseases, and Environmental Hazards

• Teratogens: drugs, diseases, or environmental hazards causing

abnormal prenatal development
• Drugs (Eg: alcohol, aspirin, caffeine, and nicotine):
Fetal alcohol spectrum disorder (FASD)
Nicotine use increases likelihood of miscarriage, low birth weight,
birth defects
• Diseases (Eg: AIDS, cytomegalovirus, genital herpes, rubella
(German measles), syphilis)
Some (cytomegalovirus, rubella, syphilis) attack the fetus
directly through the placenta; others (AIDS, genital herpes)
attack the fetus during birth.
Medications that may help treat a woman after she becomes ill
do not prevent damage to the fetus.
• Environmental Hazards (Eg: air pollution, lead, PCBs, X rays)
HOW TERATOGENS INFLUENCE
PRENATAL DEVELOPMENT
• The effect of the teratogen depends upon the genotype of
the organism.
• The impact of teratogens changes over the course of
prenatal development.
• Each teratogen affects a specific aspect of prenatal
development.
• The impact of teratogens depends on the dosage.
• Damage from teratogens is not always evident at birth.
PRENATAL DIAGNOSIS AND
TREATMENT
• Genetic counseling: Helps to assess the chances of inherited
disorders.
• Prenatal diagnosis:
 Ultrasound
 Amniocentesis
 Chorionic villus sampling
 Non-invasive prenatal testing (NIPT): samples genetic material
that reflects the fetal genotype for testing
• Fetal therapy:
Administering medicine to the fetus
Fetal surgery to correct spina bifida and circulatory problems
Genetic engineering involves replacing defective genes with
synthetic normal genes. CRISPR: experimental technique that
Key Questions
• What are the different phases of labor and delivery?
• What are “natural” ways of coping with the pain of childbirth? Is
childbirth at home safe?
• What adjustments do parents face after a baby’s birth?
• What are some complications that can occur during birth?
• What contributes to infant mortality in developed and less
developed countries?
STAGES OF LABOR
1. Stage 1 (12-24 hours before birth):
• The longest
• Labour takes 16-24 hours for 1st born children.
• Contractions become increasingly stronger and more rhythmic
• Cervix enlarges to ~10 centimeters
2. Stage 2 (<1 hour before birth):
• Lasts around 90 minutes, the baby’s head emerges further from the mother
with each contraction, increasing the size of vaginal opening.
• Baby passes through cervix to vagina
• Baby’s head appears (crowning); birth
3. Stage 3 (minutes after birth):
• The quickest and easiest
• Taking just a few minutes
• Placenta is expelled
Birth from fetus to neonate:
• As soon as the baby are outside the mother’s body, most newborns
spontaneously cry.
• Helps them to clear their lungs and breathe on their own.
• In most cases, the newborn infants first undergoes a quick visual
inspection.
• Parents: counting fingers and toes.
• Trained health-care works: look for something more.
• Apgar scale: a standard measurement system that looks for a
variety of indications of good health.
• The scale directs attention to 5 specific basic qualities (appearance,
pulse, grimace, activity, respiratory).
A score is given for each sign at 1 minutes and 5 minutes after the birth. If there are
problems with the baby, an additional score is given at 10 minutes. A score of 7 to 10
is considered normal, whereas 4 to 7 might require some resuscitative measures, and
a baby with an Apgar score under 4 requires immediate resuscitation.
• Newborn medical screening:
 Newborns typically are tested for a variety of diseases and genetic
conditions.
 The American College of Medical Genetics:
 recommends that all newborns be screened for 29 disorders.
 ranging from hearing difficulties and sickle-cell anaemia to extremely
rare conditions (a disorder involving metabolism).
 Can be detected from a tiny quantity of blood drawn from an infant’s
heel.
• The advantage: it permits early treatment of problems that might go undetected
for years.
• The exact number of tests that a new born experiences: varies from state to state.
• Example: 3 tests OR 30 tests.
• Approaches to childbirth:
i. Should the birth take place in a hospital/in the
home?
ii. Should a physician, a nurse, or a mid-wife assist?
iii. Is the father’s presence desirable?
iv. Should siblings and other family members on
hand to participate in the birth?
v. ## the choice of childbirth techniques often
comes down a matter of values and opinions.
No single procedure will be effective has proven that
one procedure is significantly more effective than
another.
• Alternative birthing procedures:
[Link] birthing techniques:
• popular in the US.
• the method makes use of breathing
techniques and relaxation training.
• mothers-to-be participate in a
series of weekly training sessions:
they learn exercises that help them
relax various parts of the body on
command.
ii. Bradley method:
• known as “husband-coached childbirth”.
• based on the principle that childbirth should be
as natural as possible and involve no
medication/medical interventions.
• mothers-to-be are taught muscle relaxation
techniques, similar to Lamaze procedures, and
good nutrition and exercise during pregnancy
(important to prepare for delivery).
[Link]:
•a new, but increasingly popular
technique.
•involves a form of self-hypnosis during
delivery that produces as sense of peace
and calm, thereby reducing pain.
•focused concentration: a mother relaxes
her body while focusing inward.
[Link] birthing:
• a practice in which a woman enters
a pool of warm water to give birth.
• the theory is that warmth and
buoyancy of the water is soothing,
easing the length and pain of
labour and childbirth.
ADJUSTMENT TO PARENTHOOD
• 1–2 weeks after birth: 50% experience irritation, resentment, and
crying, reflecting stress and physiological changes.
• Months after birth: 10–15% experience postpartum depression; may
affect baby:
low self-worth, irritability, disturbed sleep, poor appetite, apathy
risk factors: high hormonal levels; pre-pregnancy depression,
stress, lack of support
breast-feeding reduces risk
BIRTH COMPLICATIONS
• Hypoxia (inadequate blood and oxygen to baby).
• Complications may necessitate Cesarean section (C-
section).
• Births before week 36: premature or preterm
Low birth weight: 5.5 pounds (2.49kg) or less
Very low birth weight: less than 3.3 pounds (1.5kg)
Extremely low birth weight: less than 2.2 pounds
(0.99kg)
 Miscarriage
spontaneous abortion

Abortion
voluntary termination of a
pregnancy
INFANT MORTALITY
• Infant mortality rate: percentage of infants who die before the
age of 1 year
• U.S. mortality rate just under 1% (7 of 1,000).
• Possible factors:
low birth weight due to lack of free or inexpensive prenatal care
fewer paid leaves of absence for pregnant women
Thank you!