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HHS 12: Child Studies Unit
Diseases & Birth Defects
What Are Birth Defects?
•Birth defects: an abnormality of the baby’s
bodily structure, function or metabolism that is
present at birth.
•These abnormalities may be fatal or lead to
mental or physical disabilities.
•150,000 babies are born each year with
birth defects (1 out of 28 babies)
Common Causes:
1. Chromosomal Abnormalities
An error occurs when an egg or sperm cell
develops. It is not known why these errors occur.
Example: Down Syndrome
2. Genetic
Information is passed down through generations
from parents to children.
Examples: Cystic Fibrosis, Muscular Dystrophy
3. Environmental Factors:
Such as:
pregnant mother consuming alcohol,
cigarettes, illegal drugs, prescription/over
the counter medications, etc.
Example: Fetal Alcohol Syndrome (FAS)
1. Down Syndrome (Genetic in nature, but not
hereditary)
Cause- The child gets an extra
chromosome 21 — for a total of 47
chromosomes instead of 46. This
extra genetic material causes the
physical features and
developmental delays.
Description:
 Intellectual
Disability
 Poor muscle tone & heart defects
 Physical similarities (facial & body)
http://www.youtube.com/watch?v=OdDEi2EaqHM
Life Expectancy:
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http://video.about.com/pediatrics/DownSyndrome.htm
Age 60
Many physical complications are
associated with DS, such as: heart disease,
Alzheimer’s and an increased likelihood of
leukemia
Amniocentesis:
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a test performed between 16 -18 weeks of a woman's
pregnancy.
The doctor inserts a hollow needle into the woman's
abdomen and tests fluid for genetic problems.
May cause harm to the fetus; optional!
About 90-93% of Down Syndrome fetus' are
aborted
Group Work:
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1. Make a list of
challenges that would
come with being a
PARENT of a DS child
2. Make a list of
challenges that would
come with being a DS
CHILD
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3. You are at 16
weeks of pregnancy
and the doctor
determines through
amniocentesis that your
child will have DS.
What do you do?
2) Cystic Fibrosis (CF)
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Is genetic/hereditary:
passed down through
families
A defective gene
causes thick, sticky
mucus to build up in
the lungs, digestive
tract, and reproductive
systems.
It is life-threatening!
http://video.about.com/cysticfibrosis/Cystic-Fibrosis.htm
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Millions of people carry the defective CF gene, but
do not have any symptoms (a person with CF must
inherit two defective CF genes -- one from each
parent)
It is the most common, fatal, genetic disease in
Canada!
Parents can get tested to see if they carry the gene
and the fetus can be checked via amniocentesis
http://www.youtube.com/watch?v=kCSjfxm1jgY
Symptoms of CF in newborns may include:
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•Failure to gain weight normally during childhood
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•No bowel movements in first 24 - 48 hours of life
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•Delayed growth
•Salty-tasting skin
•Belly pain from severe constipation
•Increased gas, bloating, or a belly that appears swollen
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•Nausea and loss of appetite
Kirstie Mills Tancock- Britain
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TLC: “A Breathless Bride; Dying to Live”
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http://www.youtube.com/watch?v=Ru1CWjfix54&feature=relmfu
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http://www.youtube.com/watch?v=-fQAycSB9fw&feature=channel
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http://www.youtube.com/watch?v=8ZJyVXfko1I&feature=relmfu
Last Class…
What happens?
A defective gene causes
thick, sticky mucus to
build up in the lungs,
digestive tract, and
reproductive systems.
Is it hereditary?
YES!
A person with CF must
inherit two defective CF
genes -- one from each
parent.
You decide…
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The average life expectancy for someone
with CF is 36-38 years of age.
Sufferers may face a lifetime of illness,
medication use, hospital visits, waiting on a
transplant list, etc.
Given the option at 18 weeks of
pregnancy to terminate, what
would you do?
Infertility & Cystic Fibrosis:

Some men diagnosed with CF will not be able to
reproduce children naturally- his sperm will not be
able to reach the ejaculatory duct (still has the
option of IVF- In Vitro Fertilization).
Muscular Dystrophy
Inherited disorders that involve muscle
weakness & loss of muscle tissue, which
get worse over time.
May occur in childhood or adulthood
and most common in BOYS
There are many different types of MD.
All or some of the muscles may be
affected.
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Genetic counseling is advised when there is a
family history of muscular dystrophy.
Women may have no symptoms but still carry
the gene for the disorder.
Living with Muscular Dystrophy
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http://www.youtube.com/watch?v=6wLnR
7GJakY&feature=relmfu
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Bryan Arnold Ankorage, Alaska
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http://www.youtube.com/watch?v=ZrPnmgs4rHM
Fetal Alcohol Syndrome
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Cause - exposure to alcohol before birth
Severity depends on when, how much, and how often
exposed.
100% preventable (by NOT drinking while pregnant!)
FAS children have the following physical characteristics:
Small birth weight
Small head circumference
Small eye openings
Smooth, wide philtrum
Thin upper lip
Common Physical Characteristics
of Fetal Alcohol Syndrome (FAS)
Prenatal exposure to alcohol may cause the
following physiological effects:
Attention deficits (ADD/ADHD)
Memory deficits
Hyperactivity
Poor problem solving skills
Immature social behavior
Lack of control over emotions
Poor impulse control
Poor judgment
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http://www.youtube.com/watch?v=QuBBLEf2u7I
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Facial characteristics may not be as apparent
immediately after birth or during adolescence or
adulthood as they are between the ages of 2-10.
Facial characteristics may not be present at all if the
mother did not drink alcohol during the brief period that
the mid-face was forming - around the 20th day of
pregnancy.
http://www.youtube.com/watch?v=dTGWd
cWjuZ8
Each year in Canada, between 123 - 740
babies are born with FAS!
http://www.youtube.com/watch?v=4QOobVCbz2A
Smoking During Pregnancy May Cause:
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Increase risk of pregnancy complications-ex: premature
delivery
Low birth weight
Increase in respiratory problems- ex: asthma
Increase in ectopic pregnancy
Heart defects, missing/deformed limbs, clubfoot,
gastrointestinal disorders, and facial disorders (for
example, of the eyes and cleft lip/palate).
What Is an Ectopic Pregnancy?
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Ectopic means "out of place." In
an ectopic pregnancy, a fertilized
egg has implanted outside the
uterus.
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The egg settles in the fallopian
tubes, often called "tubal
pregnancies."
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As the fetus grows, it will
eventually burst the organ that
contains it. This can cause
severe bleeding and endanger
the mother's life.
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http://www.youtube.com/watch?v=HsYHtc
zWiWI&feature=related
A classic ectopic pregnancy
never develops into a live birth.
Other Birth Defects:
1. Cerebral Palsy
2. Spina Bifida
Cerebral Palsy
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is caused by an injury to the
brain before, during, or
shortly after birth.
In many cases, no one knows
for sure what caused the
brain injury or what may
have been done to prevent
the injury.
Alex Bilodeau & his brother
Canada’s First Gold Medal at the
Vancouver 2010 Olympics!
http://www.youtube.com/watch?v=yxxmUq8Howg
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http://www.youtube.com/watch?v=IVWkDvv-npQ&feature=related
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What is Cerebral Palsy?
• Unable to fully control motor function (body
movements), particularly muscle control and
coordination.
• Depending on which areas of the brain have been
damaged, people with cerebral palsy may
experience one or more of the following:
Muscle tightness or spasm, involuntary
movement, poor mobility, impairment of sight,
hearing, or speech, seizures, etc.
Rick and Dick Hoyt
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Http://www.youtube.com/watch?v=64A_AJjj8M4
http://www.youtube.com/watch?v=CoIA36CSTXk
http://www.teamhoyt.com/index.html
Spina Bifida
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The development of the
brain, spinal cord, and/or
meninges (the protective
covering around the brain
and spinal cord) is
UNDEVELOPED.
Spina Bifida
http://www.iifar.org/Spina_Bifida_Symptoms_Causes_Treatment.html
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The exact cause of spina bifida remains a
mystery.
No one knows what disrupts complete closure of
the neural tube, causing a malformation to
develop.
Scientists suspect that the cause is multi-factoral:
genetic, nutritional, and environmental factors
play a role.
In most cases, spina bifida is
diagnosed prenatally, or before birth;
however, some mild cases may go
unnoticed until after birth (postnatal).
There is no cure. The spinal opening
can be surgically repaired shortly after
birth, but the nerve damage is
permanent, resulting in varying
degrees of paralysis of the lower limbs.
Living With Spina Bifida
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http://www.youtube.com/watch?v=PqUDdxm-qSA
http://www.youtube.com/watch?v=4Fi-miRqjHs