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Birth Defects 3.01
Revised 10/19/10 K.Brown
FACTS
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About 150,000 babies are born each
year with birth defects.
The parents of one out of every 28
babies are told 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?
A birth defect is
 An
abnormality present at birth
that affects the body structure or
functions and may threaten a
baby’s health.
 Birth defects can be caused by
environmental factors, inherited
factors or both.
Environmental influences on
birth defects
Inadequate prenatal nutrition for
the mother can stunt brain
development, lead to mental
retardation of the baby, and
increase the risk of birth defects,
and low birth weight.
Environmental influences on
birth defects-disease or infection
exposure during pregnancy
Rubella (German measles)- during the 1st
trimester can cause blindness, deafness,
heart disease and retardation
Toxoplasmosis, a parasite in cat litter and
some raw meat, can cause blindness,
hearing loss, learning disabilities and death
http://images.google.com/imgres?imgurl=http://www.users.cloud9.net/
Environmental influences on
birth defects-disease or infection
exposure during pregnancy

Varicella (AKA chicken pox) during 1st
half of pregnancy may cause scarring of
baby’s skin, limb defects, physical
disabilities and death

STDs (Sexually transmitted ) can be
passed to the unborn child and cause
serious illness, physical disabilities, or
death
Environmental influences on
birth defects

Harmful substances consumed during
pregnancy
Nicotine (from smoking tobacco or secondhand
smoke)
 Low birth weight- smaller than average babies
 Miscarriages and premature deliveries
 Respiratory infections and allergies
Environmental influences on
birth defects-harmful substances
consumed (cont.)

Alcohol can cause FAS or Fetal Alcohol
Syndrome
• 20% of infants die
• Facial deformities, delayed growth, heart
defects, hyperactivity
• Mental retardation or disabilities
• Poor coordination
• Difficulty in controlling behavior
nlm.nih.gov
Environmental influences on
birth defects-harmful substances
consumed (cont.)
Drugs- over-the counter, prescription, and
illegal
Do not take drugs without a doctor’s
permission
Addiction is passed to baby; baby goes
through painful withdrawal after birth
Cause severe, long-term behavior and
learning problems
Environmental influences on
birth defects-harmful
substances consumed (cont.)
Caffeine increased risk of miscarriage,low
birth-weight and infant death
Cocaine- risk of miscarriage, stroke leading
to brain damage, heart attack, birth
abnormalities or death; tremors, irritability,
sleep problems and delayed development
Ecstasy leads to heart defects and physical
abnormalities
Environmental influences on
birth defects-Hazard exposure
during pregnancy
Lives in a home built before 1955 (lead paint) or
1986 (lead solder)
Chemicals-some types of paint, pesticides, CO2,
carbon monoxide, mercury, solvents and paint
thinners, formaldehyde may cause physical and
mental defects in unborn baby
Toxoplasmosis can cause miscarriage, still birth,
eye and brain damage (constant exposure to cats)
X-rays during pregnancy can cause childhood
cancer, miscarriage, mental retardation.
Environmental influences on
birth defectsAccidental Injuries
Cerebral Palsy – caused by damage
to the brain before, during, or
shortly after birth
o
http://advocacy.britannica.com/
Damage to embryo and fetus
from accidents can lead to birth defects

Hereditary influences on
birth defects – General
Information
Dominant gene traits are stronger than
recessive traits
 Defective recessive genes are inherited
from both parents
 Defective dominant genes are inherited
from one parent
 Errors with the structure or number of
chromosomes
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Inherited recessive birth
defects
1. Cystic Fibrosis-causes mucus to build up and
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clog the lungs and make breathing very difficult.
Caucasians
Shortened life expectancy
Symptoms-Salty-tasting skin,
coughing,bronchitis, shortness
of breath, poor growth/weight
gain in spite of a good appetite,
frequent greasy, bulky stools
http://images.google.com/symptomchecker.aarp.org
Inherited recessive birth
defects
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2. Tay-Sachs
a metabolic defect which
affects the nervous system
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Jewish ancestry
Children appear normal at first and then slowly fail to
develop and lose body functions
Enzyme deficiency that allows fat to build in the brain
and nerves; brain damage, blindness, and loss of
brain function.
Death usually occurs by age five
commercialappeal.com
Inherited recessive birth
defects
3. PKU (Phenylketonuria)
 The body is unable to process and use a
protein that is in most foods
 All newborns are tested by law for PKU
using a simple blood test
 No cure, but a special low-protein diet can
prevent brain damage
Inherited recessive birth
defects
4. Sickle Cell Anemia-blood
disorder deprives the body of
oxygen
Associated with
African-American
decent
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medicinenet.com/
http://adultstemcellawareness.
Inherited dominant gene
birth defects
1. Hemophilia-passed to sons from mothers
only-prevents blood clotting
2. Huntington’s Disease-manifests in
adulthood and leads to dementia
3. Duchenne Muscular Dystrophy- passed
by mother to male children
4.Color Blindness-usually affects males
Hereditary Influences:
Chromosomal Abnormalities
1. Down Syndrome
One extra chromosome- 47 chromosomes
Characteristics: mental retardation, heart problems,
leukemia, poor muscle tone, short stature and distinct
facial characteristics
Easyhealth.org.
nlm.nih.gov/
http://caymanpei.blogspot.com
Heredity and environmental
influences
Genetic and environmental factors
can cause birth defects
 The cause of about 60% of birth
defects are not yet known
 A single abnormal gene can cause
birth defects….you have about
100,000 genes that determine traits
like eye color, hair, …..
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Malformations caused by a
combination of both environmental
and hereditary factors
1. Spina bifida (open spine)
•
Loss of body movement; enlarged
head due to fluid buildup (hydrocephalus).
Caused by lack of folic acid
ahealthyme.com
2. Cleft lip/palate
• Gap in the roof of the mouth or
Upper lip divided into two parts
caused by incomplete closure
at 5 to 7 weeks after conception.
todayshottopic.com
Malformations caused by a combination of
both environmental and hereditary factors
3. Heart Defects
An inherited tendency to develop a heart
defect combined with drug use or virus
during pregnancy can cause the baby
to have a heart defect
goofyj.wordpress.com
healinglittlehearts.com
Multiple births due to
environment and heredity
4. Hyper-ovulation gene inherited
from mother leads to fraternal
twins
5. Twin-to-twin syndrome (TTTS)
One twin takes nourishment
from the other; caused by fertility
drugs
http://scienceblogs.com
Causes of Prenatal Damage
o Infections
o Drugs
o Maternal disorders such as
o
o
o
o
o
diabetes
High blood pressure
Rh disease
Umbilical cord accidents
Difficult labor or delivery
Premature birth
Factors that contribute to
Birth Defects:
•
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Overweight/Underweight
Ethnic/cultural background
Health problems
Epilepsy
No immunizations against rubella
STDs: Genital herpes,Gonorrhea,Syphilis
Can birth defects be
prevented?
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The potential causes of most birth
defects are not known
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There are steps a woman can take to
reduce the risk of having a baby with
a birth defect
What causes birth defects?
How can some
environmental birth defects
be avoided?
Visit a health care provider for a prepregnancy check up; especially if a
woman has health problems
 When pregnant take daily prenatal vitamins
containing 400 mg of the B-vitamin folic
acid
 Avoid alcohol, drugs, smoking, prescription
or over-the-counter medication unless
prescribed by a health care provider
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How can some birth defects be
diagnosed before birth?
Ultrasound
Amniocentsis
Chorionic villus sampling
How can some birth
defects be treated before
birth?
Preventing Birth Defects
•Avoid…
•Take daily multi-vitamins
containing 400mg of the
B-vitamin folic acid.
Review
Define birth defect
 What factors contribute to birth
defects?
 How can some birth defects be
diagnosed before birth?
 How can birth defects be prevented?
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