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HEREDITY,
PRENATAL
DEVELOPMENT,
BIRTH
ASK
YOURSELF:
What shapes you?
Why are you the way you are?
Are these features hereditary,
environmental factors, or both?
- Height
- Weight
- Personality
- Being diabetic
Basic building
block of the
nature Located on the
perspective chromosomes
There are an
Genes are
estimated 20,500
specific
genes for
sequence of
humans,
nucleotides and
according to the
are recipes for
Human Genome
making
Project
proteins.
GENES
Normal Human Cells
contain 46
chromosomes (or 23
pairs; one from each
parent) in the nucleus
of the cells.
Normal human cells contain 46 chromosomes (or 23 pairs;
one from each parent) in the nucleus of the cells.
Mitosis Meiosis
They are the result of several genes. Sometimes, the dominant gene does not
completely supress the recessive gene
TWO TYPES OF TWINS
MONOZYGOTIC OR IDENTICAL – occur DIZYGOTIC OR FRATERNAL TWINS –
when a fertilized egg splits apart in the two eggs or ova are released and
first two weeks of development fertilized by two separate sperm
GENETIC DISORDERS
GENETIC DISORDERS
AUTOSOMAL
RECESSIVE
DOMINANT SEX-LINKED
DISORDERS
DISORDERS DISORDERS
(HOMOZYGOUS)
(HETEROZYGOUS)
GENE-LINKED
DISORDERS
Recessive Disorders (Homozygous): The individual inherits a gene change from change from
both parents. If the gene is inherited from just one parent, the person is a carrier and does CASES PER BIRTH
not have the condition.
Sickle Cell Disease (SCD) is a condition in which the red blood cells in the body are shaped 1 in 500 Black births
like a sickle (like the letter C) and affect the ability of the blood to transport oxygen. Carriers 1 in 36 000 Hispanic
may experience some effects, but do not have the full condition. births
Cystic Fibrosis (CF) is a condition that affects breathing and digestion due to thick mucus 1 in 3500
building up in the body, especially the lungs and digestive system. In CF, the mucus is thicker
than normal and sticky.
Phenylketonuria (PKU) is a metabolic disorder in which the individual cannot metabolize 1 in 10 000
phenylalanine, an amino acid. Left untreated intellectual deficits occur. PKU is easily detected
and is treated with a special diet.
Tay Sachs Disease is caused by enzyme deficiency resulting in the accumulation of lipids in 1 in 4000
the nerve cells of the brain. This accumulation results in progressive damage to the cells and 1 in 30 American
a decrease in cognitive and physical development. Death typically occurs by age five. Jews is a carrier
1 in 20 French
Canadians is a carrier
Albinism is when the individual lacks melanin and possesses little to no pigment in the skin, Fewer than 20,000
hair, and eyes. Vision problems can also occur. US cases per year
Sickle Cell Disease
Cystic Fibrosis (CF) Phenylketonuria
(SCD)
Huntington’s Disease is a condition that affects the individual’s nervous system. 1 in 10,000
Nerve cells become damaged, causing various parts of the brain to deteriorate. The
disease
Tourette Syndrome is a tic disorder which results in uncontrollable motor and vocal 1 in 250
tics as well as body jerking
Achondroplasia is the most common form of disproportionate short stature. The 1 in 10 000
individual has abnormal bone growth resulting in short stature, disproportionately
short arms and legs, short fingers, a large head, and specific facial features
Huntington’s
Tourette Syndrome Achondroplasia
Disease
Sex-Linked Disorders: When the X chromosome carries the mutated gene, the Cases per Birth
disorder is referred to as an X-linked disorder. Males are more affected than females
because they possess only one X chromosome without an additional X chromosome
to counter the harmful gene.
Fragile X Syndrome occurs when the body cannot make enough of a protein it 1 in 4000 males
needs for the brain to grow and problems with learning and behaviour can occur. 1 in 8000 females
Fragile X syndrome is caused from an abnormality in the X chromosome, which
then breaks. If a female has fragile X, her second X chromosome usually is healthy,
but males with fragile X don’t have a second healthy X chromosome. This is why
symptoms of fragile X syndrome usually are more serious in males
Hemophilia occurs when there are problems in blood clotting causing both internal 1 in 10, 000 males
and external bleeding
COMMON REASONS
FOR GENETIC
COUNSELING
Learning about the chances of having a
baby with a genetic condition if the parents
Information regarding the results of are older, have had several miscarriages,
genetic testing, including blood tests, have offspring with birth defects,
amniocentesis, or ultra sounds experience infertility, or have a medical
condition
BEHAVIORAL
GENETICS
is the scientific study of the
interplay between the genetic and
environmental contributions to
behaviour.
BEHAVIORAL GENETICS
Genotype-Environment Correlations
01 refer to the processes by which genetic factors contribute to vari-
ations in the environment
Genotype-Environment Interactions
02 involve genetic susceptibility to the environment
Epigenetics
03 studies modifications in DNA that affect gene expression and
are passed on when the cells divide
GENOTYPE-ENVIRONMENT
CORRELATIONS
Passive genotype-environment correlation
01 occurs when children passively inherit the genes and the environments their
family provides.
Timing of the
Exposure 02
The amount of
03 Exposure
Number of
Teratogens 04
Genetics
05
Being Male or
Female
Examples of Teratogens
ALCOHO
• L
Commonly used teratogens POLLUTANTS
Such as Lead, pesticides, Bisphenol A, Radiation
• Alcohol during pregnancy is the leading and Mercury
preventable cause of intellectual disability
TOBACC TOXOPLASMOS
O
Tobacco use during pregnancy has been associated •ISAn infection caused by a tiny parasite,
with low birth weight, ecotopic pregnancy, toxoplasma gondii.
placenta privia, placenta abruption
• Toxoplasmosis can cause premature birth,
stillbirth, and can result in birth defects to the
PRESCRIPTION/ OVER THE COUNTER eyes and brain.
DRUGS
• A woman should not be taking any prescription drug
during pregnancy unless it was prescribed by a health SEXUALLY TRANSMITTED
care provider who knows she is pregnant.
•DISEASES
Gonorrhea, syphilis, and chlamydia are sexually
• Pain reliever ibuprofen can cause serious blood flow transmitted infections that can be passed to the
problems to the fetus during the last three months fetus by an infected mother.
Examples of Teratogens
HUMAN IMMUNODEFICIENCY
VIRUSteratogens
• One of the most potentially devastating (HIV)
• One of the main ways children under age 13 become
infected with HIV is via mother-to-child
transmission of the virus prenatally, during labor, or
by breastfeeding
GERMAN MEASLES
• (RUBELLA)
An infection that causes mild flu-like symptoms and a
rash on the skin.
ULTRASOUND
• one of the main screening
tests done in combination
with blood tests
TRANSVAGINAL TRANSABDOMINAL
ULTRASOUND
• Used in early pregnancy ULTRASOUND
• more common and used after 10
weeks of pregnancy (typically, 16 to
20 weeks)
AMNIOCENTESIS
AMNIOCENTESIS
• is a procedure in which a
needle is used to withdraw
a small amount of amniotic
fluid and cells from the sac
surrounding the fetus and
later tested.
CHORIONIC VILLUS
SAMPLING
CHORIONIC VILLUS
SAMPLING
• a procedure in which a
small sample of cells is
taken from the placenta and
tested
Complications during Pregnancy
ECTOPIC PREGNANCY
occurs when the zygote becomes attached to the
fallopian tube before reaching the uterus
PRECLAMPSIA or
TOXEMIA characterized by a sharp rise in blood
pressure, a leakage of protein into the urine as
a result of kidney problems, and swelling of
the hands, feet, and face during the third
trimester of pregnancy
ECLAMPSIA
Seizures caused by preclampsia
STAGES OF BIRTH FOR VAGINAL
DELIVERY
STAGE 1 : DILATION
STAGES OF BIRTH FOR VAGINAL
DELIVERY
STAGE 2 : BIRTH
STAGES OF BIRTH FOR VAGINAL
DELIVERY
STAGE 2 : BIRTH
STAGES OF BIRTH FOR VAGINAL
DELIVERY
STAGE 3 : AFTER BIRTH DELIVERY
COMMON REASONS FOR C-SECTIONS
01
Health problems in
the mother 02
Signs of distress in
03 the baby
1 2 3 4
POSTPARTUM MATERNAL CONCERNS