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Birth Defects
FACTS
About 150,000 babies are born each year
with birth defects.
The parents of one out of every 28 babies
receive the frightening news that their baby
has a birth defect.
There are over 4,000 known birth defects.
Birth defects are the leading cause of death
in the first year of life.
What is a Birth Defect?
an abnormality that affects the structure or
function of the body that is present at birth
almost everyone is born with some type of
imperfection
some are minor – a birth mark
some can result in physical or mental
disabilities or be fatal
What causes birth defects?
both genetic and environmental factors can
cause birth defect
the causes of about 60% of birth defects are
currently unknown
a single abnormal gene can cause birth
defects - every human being has about
100,000 genes
Can birth defects be prevented?
While the causes of most birth defects are not
known, there are a number of steps a woman
can take to reduce her risk of having a baby
with a birth defect.
Visit a health care provider for a pre-pregnancy check
up. Especially if a woman has health problems.
When pregnant take daily multivitamin containing 400
mg of the B-vitamin folic Acid.
Avoid alcohol, drugs, smoking, prescription or over-thecounter medication with out checking with her health
care provider.
Can some birth defects be diagnosed
before birth?
Some birth defects can be diagnosed before
birth
Some prenatal tests that can be taken are:
Alpha-fetoprotein (AFP)
Ultrasound
Amniocentesis
Chronic Villi sampling
Prenatal tests
Alpha-fetoprotein (AFP)
Blood test done at 15-20 weeks
AFT is a protein produced in the fetus’ liver
Abnormal levels indicate a possible birth defect
Ultrasound
Uses sound waves to create a picture (sonogram)
Problems with skeletal, circulatory or nervous system
may be detected
Helps confirm due date and presence of one fetus
Completed at 20 weeks
No threat to unborn child or mother
Amniocentesis
Withdraw a sample of amniotic fluid
Often used to detect Down syndrome
Involves some risk to the fetus
Only performed when medical reason to do so
Chorionic villi sampling
Uses a sample of the tissue from the membrane that
encases the fetus
Tissue is snipped or suctioned off and analyzed
Similar use as amniocentesis but used less often as it
poses more risks
Can birth defects be treated before birth?
Advances in prenatal therapy now make it
possible to treat some birth defects before
birth.
Prenatal surgery has saved babies with
urinary-tract blockages and rare tumors of the
lung.
More than 100 babies have undergone
experimental prenatal surgery to repair spina
bifida before birth.
Types of Birth Defects
There are two main types of birth
defects:
structural
functional/developmental.
Structural birth defects are related to a problem
with body parts.
heart defects, such as missing or misshaped
valves, and abnormal limbs, such as a club foot
also includes neural tube defects, such as spina
bifida, problems that are related to the growth and
development of the brain and spinal cord.
Functional birth defects are related to a problem with
how a body part or body system works. These
problems often lead to developmental disabilities
and can include things such as:
Nervous system or brain problems - learning
disabilities and movement trouble.
Sensory problems - blindness and hearing loss.
Metabolic disorders - involves a body process
Degenerative disorders--are conditions that might not
be obvious at birth, but cause one or more aspects of
health to steadily get worse
In some cases, birth defects are caused by a
combination of factors.
Some recognized patterns of birth defects
affect many parts or processes in the body,
leading to both structural and functional
problems.