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BIRTH DEFECTS
Mrs. Tate
Learning Targets
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Understand what birth defects are
and how children get them
Explain and analyze ways to
prevent birth defects
Explain different types of birth
defects
What Are Birth Defects?
Birth defects are defined as abnormalities of structure, function,
or body metabolism that are present at birth. These
abnormalities lead to mental or physical disabilities or are fatal.
There are more than 4,000 different known birth defects ranging
from minor to serious, and although many of them can be
treated or cured, they are the leading cause of death in the first
year of life.
According to the March of Dimes, about 150,000 babies are born
with birth defects each year in the United States. The American
College of Obstetricians and Gynecologists (ACOG) says that
out of every 100 babies born in the United States, three have
some kind of major birth defect.
Birth defects can be caused by genetic, environmental, or
unknown factors.
Three methods of
testing for
congenital defects
are ultrasound,
chorionic villi
sampling, and
amniocentesis.
Birth Defects
What are some causes of birth
defects?
Problems in Prenatal Development
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Sometimes a pregnancy begins,
but a baby doesn’t develop
normally
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If the baby dies before the 20th week
it is called a miscarriage
If the baby dies after that time, it is
called a stillbirth.
15-20% of recognized
pregnancies end in miscarriage
2% ends in stillbirth
Due to bonds that are formed
way before the child is born,
parents (especially the woman)
may go through grieving.
Birth Defects
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Some babies survive the pregnancy but
are born with serious problems called
birth defects.
Some birth defects include:
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Cerebral Palsy
Cleft Lift and/or palate
Down Syndrome
Muscular Dystrophy
Sickle Cell Anemia
Spina Bifida and more!
Causes of Birth Defects
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Some causes are environmental because
it is during the first few weeks that a baby
develops all the bodily systems needed
for survival
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The mother’s diet
Any diseases or infections the mother has
Harmful substances
Some medicines
Exposure to hazards (such as chemicals, Xrays, etc.)
Some causes are hereditary
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Sometimes a child inherits a defective gene
that is dominant such as Huntington's
Some conditions affect only one sex and
usually it’s the males
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Hemophilia
Color blindness and more
More Causes of Birth defects
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Errors in chromosomes
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Such as when a baby has too
many or too few
chromosomes or has broken
or rearranged chromosomes
This usually leads to Down
Syndrome
Prevention and Diagnosis of Birth
Defects
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All types of birth defects cannot be
anticipated or controlled, but there are
several things that couples can do to
minimize the chances.
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Genetic counseling for those who have a
history of birth defects in their family
Prenatal tests that can also determine whether
or not a baby will be born with a birth defect
 AFP tests the protein levels in the liver and an
abnormal level could be a birth defect
 Ultrasound can help determine problems with
the baby’s skeletal, circulatory, or nervous
systems.
 Amniocentesis is when fluids are withdrawn
from the amniotic fluid and taken to a lab to
be tested for birth defects
Avoiding Dangers to the Baby
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Always avoid alcohol which leads to
Fetal alcohol syndrome
1 in 5 babies born with this does not
live to see his or her 1st birthday
Other Drugs
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Medicines that are over the counter and
prescribe by the doctor
Caffeine
Nicotine
All illegal drugs
inhalants
Causes of Drugs
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Not avoiding the drugs can lead
to:
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Low birth weight (5lb 8oz or lower)
SIDS (Sudden infant death
syndrome)
Risks of seizures
Tremors and developmental delay
Congenital heart disease
Preterm Birth
Small-for-date Babies
Hazardous Substances and Chemicals
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A pregnant woman should also
avoid:
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Paint-low odor and/or latex
Pesticides
Lead
Carbon monoxide
Mercury (found in fish)
Spina bifida is determined during the first
trimester of pregnancy. As the embryo
forms, the bones in the spinal column
come together and tissue grows around
the vertebrae, closing it. In the case of
spina bifida, an opening remains. The size
of the opening varies from almost
pinpoint to several inches.
Current research links the nutrient FOLIC ACID to this birth defect. It is
imperative that the mother has an adequate supply of this nutrient prior to
AND in the early stages of pregnancy. Oranges are a common source of this
nutrient, as well as many enriched breads and cereals products. For this
reason, spina bifida would be considered as having an environmental cause.
The area where the
bones are not properly
closed allows the
cord, tissue, and/or
fluids to protrude.
The location of the
“opening” on the
spine is critical. Areas
and functions below
the hole are affected.
Some areas above the
hole may be affected
as well, especially the
brain, as it is
connected to the
spinal cord and
nervous system.
The top arrow points
to a part of the spine
that is properly
closed.
The bottom arrow
points to an area that
is improperly closed…
spina bifida.
Various degrees of
leg and foot
deformities are
found in spina bifida
patients, depending
on the size of the
improper spinal
closure.
The rarest form of spina bifida is when the spinal tissue actually
protrudes from the body. This only occurs in 10% of all cases.
Club foot is a birth defect of
the foot and ankle. It can
occur in one or both feet.
Advances in medicine have
been useful in the surgical
correction of problems. This
defect occurs in the first
trimester of pregnancy…
during formation.
Fetal Alcohol Syndrome (FAS) and Fetal Alcohol
Effects (FAE) are growing problems in the United
States. Despite the warnings posted in bars and
restaurants and the increased media attention given
to the perils of alcohol use during pregnancy, the rate
of drinking among women of childbearing age
continues to rise. The incidence of FAS may be as
high as 12,000 per year, with FAE evident in up to
36,000 infants per year. Drinking during pregnancy
affects not only the mother, but also the growing
fetus. Alcohol can cause physical deformities and
neurobehavioral deficits in the infant and growing
child. Thus, it is not surprising that FAS is the
leading cause of mental retardation and the only one
that is preventable.
Facial characteristics that suggest the diagnosis of FAS.
Disabilities,
whether physical or
mental, vary widely
between individuals
depending on the
type and amount of
brain damage.
What is cerebral palsy?
Cerebral palsy is the name given to a condition which affects the way the brain
controls the muscles of the body. This results in difficulties in movement and
posture.
"Cerebral" - refers to the brain
"Palsy" - can mean weakness or paralysis or lack of muscle control
Causes of cerebral palsy
Cerebral palsy is the most common physical
disability in childhood. It is estimated 2 to 3
people out of every 1000 will have cerebral
palsy. This condition is not hereditary and
there is no cure. Many causes of cerebral
palsy are still not known or understood. Injury
or changes to the developing brain are
associated with cerebral palsy.
Careful
monitoring during
the birth process
may prevent
some types of
brain injury.
For example, it is known the developing brain
can be injured by:
* Exposure to certain infections such as
Rubella (German Measles) in the early
months of pregnancy
* Reduced oxygen supply to the baby during
or after birth
* Exposure of an infant to severe infection
shortly after birth or the first few weeks of life.
* An accident in the early years of life; for
example, with a near drowning or motor
vehicle accident.
Down’s Syndrome is a genetic disorder caused by an extra 21st chromosome.
The egg carries 23 chromosomes; the sperm carries 23 chromosomes; the
developing embryo should have 23 PAIRS of chromosomes…with no spares!
Down’s Syndrome
results in mental
disabilities. It was
once known as
Mongoloidism.
Physical Characteristics:
Muscle hypotonia, low muscle tone
Flat facial features, a somewhat depressed nasal bridge and a small nose
Upward slanted eyes, small skin folds on the inner corner of the eyes
Short neck
Misshaped ears
White spots on the colored part of the eye
Single skin crease in the palm of the hand
Excess flexibility in joints
Heart defects
Sight and hearing problems
Large and protruding tongue
Fifth finger has one flexion furrow instead of two
Excessive space between large and second toe
A risk factor is something that increases your
chance of getting a disease or condition.
Genetics: If either parent is a carrier of a specific
type of Down's syndrome there is an increased risk
of giving birth to a child with this type of Down's
syndrome.
Age: The chance of having a child with Down's
syndrome increases after a woman reaches age 35.
Sex: More boys are born with Down's syndrome.
During the first trimester of pregnancy
the two sides of the mouth and lip area
grow together.
A combination of
genetic and environmental factors
sometimes
interfere
with
this
development, and a cleft results.
Clefts often involve the lip, the
roof of the mouth (hard palate) or
the soft tissue in the back of the
mouth (soft palate).
In addition to needing plastic surgery to
repair the opening, these children may have
problems with their feeding and their teeth,
their hearing, their speech, and their
psychological development as they grow up.
Medical and technology advances have been invaluable in the treatment of the
cleft lip and palate. Clefts occur 1 time in 1,000 births in Caucasians, more
often in Asians and Native Americans, and less often in African Americans.
Sickle cell anemia is an
inherited blood disorder.
In sickle cell anemia, the body
produces an abnormal form of
hemoglobin. Hemoglobin, a
protein responsible for
transporting oxygen to all
parts of the body, is a
component of red blood cells.
NORMAL
ABNORMAL
Sickle cell disease, also called sickle cell
anemia, primarily affects people of African
descent, but also occurs in some people of
Mediterranean, Middle Eastern and East
Indian origin. Among blacks, one
newborn in 375 develops the disease.
Causes:
• Pain most commonly affects the
joints.
• Leg ulcers in the ankle region may
persist for years
• Seizures or strokes
• Prone to infectious diseases
Birth Defects Video
https://www.youtube.com/watch?v=10VbvjdcaXA