BIRTH DEFECTS

1
BIRTH DEFECTS
2
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.
3
Three methods of testing for congenital defects
are ultrasound, chorionic villi sampling, and
amniocentesis.
4
Spina bifida...
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 vertbrae, 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.
5
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.
Spina bifida...
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.
6
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.
7
Spina bifida...
Spina Bifida babies are at an immediate and
life-long risk. Those that survive have problems
ranging from mild orthopedic deformities and
normal intelligence to severe physical and mental
handicap. They are frequently intolerant of
latex products. The bowel and bladder are
often affected, and the use of a catheter is
common.
8
Spina Bifida...
The person with spina bifida may benefit from the
use of special adaptive equipment such as
braces, walkers, carts, and wheelchairs.
9
The best hope for children with spina bifida may
be early diagnosis and prenatal surgery to close
the spine. Some repairs can be made while the
fetus is still in the womb.
10
Marfan Syndrome...
Marfan's syndrome is a disorder of connective
tissue which causes skeletal defects typically
recognized in a tall, lanky person. A person with
Marfan's syndrome may exhibit long limbs and
spider-like fingers, chest abnormalities
(inversion of the septum), curvature of the spine
and a particular set of facial features including
a highly arched palate, and crowded, crooked
teeth.
The most significant of the defects in the
syndrome are cardiovascular abnormalities, which
may include enlargement (dilatation) of the base
of the aorta. Since Marfan's syndrome is usually
an inherited or genetic disorder, prospective
parents with a family history of Marfan's
syndrome should get genetic counseling.
11
Marfan Syndrome...
It is named after its discoverer, Dr. Marfan.
Those who have the syndrome have the unique
characteristics.
Do these characteristics look familiar? It is
now believed that Abraham Lincoln may have had
Marfans Syndrome. Life expectancy may be
shortened by complications from the heart
abnormalities.
12
Marfan Syndrome...
A couple of easy diagnostic tools for Marfan
Syndrome. Symptoms of Marfan Syndrome can be
easily confused with other disorders.
13
Club Foot...
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.
14
Normally within the brain there are some cavities
named ventricles, where a liquid known as
Cerebrospinal Fluid (CSF) is produced. The
purpose of this is to protect the brain and
spinal cord, acting as a shock absorber. It also
carries away disposed materials. The CSF
circulates from the ventricles towards a space
that exists between the brain and the membranes
(meninges) that surround it, from where it is
"eliminated", into the blood stream.
Hydrocephalus...
In the individual with hydrocephalus, the fluid
does not drain away properly, but accumulates.
In an infant, the seams of the skull have not yet
fused, so the skull gets bigger as the fluid
accumulates.
15
Hydrocephalus...
A miniature pump called a shunt is placed in the
head to remove off excess fluid.
This baby recovers after having surgery to
install a shunt.
16
If you look closely, you can see a scar above
this babys ear, where surgeons opened the skull
to place a shunt. Early detection and immediate
treatment can minimize or even eliminate brain
damage and permanent skull deformity caused by
the pressure of excess fluid.
17
Fetal Alcohol Syndrome...
ANY consumption of alcohol during ANY time during
the gestation period can damage a babys brain.
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.
18
Fetal Alcohol Syndrome...
Facial characteristics that suggest the diagnosis
of FAS.
19
Faces of...
Fetal Alcohol Syndrome
Prenatal and/or postnatal growth delay (height
and/or weight below the tenth percentile,
Central nervous system (brain) involvement
(conditions such as head circumference below the
third percentile, intellectual impairment,
learning disabilities, attention
deficit/hyperactivity or other neurological
abnormalities), Characteristic facial features
(short eye slits, flat mid face, long/indistinct
space between nose and upper lip, and thin upper
lip.
20
Cerebral Palsy...
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
21
Causes of cerebral palsyCerebral 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.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.
Cerebral Palsy...
Careful monitoring during the birth process may
prevent some types of brain injury.
22
Hemangioma...
The vast majority of hemangiomas fall into the
category of port-wine stains or small
birthmarks, with only 15 being of the tumor
variety or needing medical intervention.
23
To remove some protruding hemangiomas surgically
would result in bleeding to death. As the blood
vessels in the area die, part or all of the mass
can be removed. Laser surgery has been extremely
effective for hemangiomaseven removal of the
stain variety.
Hemangioma...
24
Down's Syndrome...
Downs 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
chromosomeswith no spares!
Downs Syndrome results in mental retardation. It
was once known as Mongoloidism.
25
Down's
Syndrome...
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
26
Down's Syndrome...
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.
27
Muscular Dystrophy...
Entertainer Jerry Lewis has made it his life-long
mission to raise funds to find a cure for
muscular dystrophy. Each year millions of
dollars are collected from the traditional Labor
Day television marathon.
What is muscular dystrophy?  Muscular dystrophy
(MD) refers to a group of degenerative muscle
diseases. The nine major forms of muscular
dystrophy are Duchenne, Becker,
Facioscapulohumeral, Myotonic or Steinert's
Disease, Limb-Girdle, Congenital,
Oculopharyngeal, Distal,and Emery-Driefuss. Each
of these individual forms affects only two in
10,000 persons, but that amounts to 18 total per
10,000, and that is not a good statistic. All
forms are genetically linked. The DNA pattern
prevents the body from making the necessary
muscle-building protein called dystrophine.
28
Muscular
Dystrophy...
The symptoms common to all forms of muscular
dystrophy are progressive weakness and atrophy
(wasting) of skeletal muscles. Those are the
muscles under voluntary control. Whether or not
they are ultimately lethal (as in Duchenne
muscular dystrophy when death often occurs by age
5) or relatively mild (as in facioscapulohumeral
muscular dystrophy when the person lives a normal
life span) is related to  Age of onset of
symptoms (from neonatal to late adulthood) 
Muscles first and most often affected  Whether
or not there is involvement of the heart
(different than skeletal muscle, but also a kind
of muscle) or other organs  Degree of functional
disability resulting from symptoms Rate of
progression of disease (from slow to rapid) 
Complications may include Deformity, decreased
ability to care for oneself, heart problems and
breathing problems.
29
Multiple Sclerosis...
Multiple sclerosis is a central nervous system
disorder marked by decreased nerve function with
initial inflammation of the protective myelin
nerve covering and eventual scarring. Symptoms
and severity of symptoms vary widely and may
progress into episodes of crisis alternating with
episodes of remission.
30
Multiple sclerosis...
Though MS is not directly inherited, there is a
genetic link. However, 80 of people with MS do
not have it in their family. Women are twice as
likely to develop MS as men. The average age of
onset is 20 to 40 years old. MS becomes more
common among populations further from the
equator. It is also more common among Caucasians,
especially those of Northern Europe ancestry.
There is no cure for MS only drug and exercise
therapy to treat symptoms. Symptoms might
include numbness or tingling, decreased motor
coordination, unusual fatigue, visual changes,
spasticity, slurred speech, muscle weakness,
bowel and bladder issues, sexual functioning
issues, sensitivity to heat, paralysis, and
cognitive problems.
This birth defect differs from many others
because it is not present at birth. However, a
genetic predisposition for developing the disease
IS!
31
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.
Cleft Palate...
Clefts often involve the lip, the roof of the
mouth (hard palate) or the soft tissue in the
back of the mouth (soft palate).
32
Cleft 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.
33
People who have CF produce abnormally thick,
sticky mucus, which clogs the lungs and leads to
recurring lung and sinus infections and
difficulty breathing. Reduced oxygen in the blood
also leads to a characteristic rounding and
enlargement of the nail bed in the fingers and
toes, called clubbing. Those with the disease may
also develop a barrel-shaped chest as a result of
their increased work to breathe. These repeated
infections often lead to fleshy growths inside
the nose, called nasal polyps. The thick mucus
also obstructs the ducts of the pancreas,
preventing digestive enzymes from reaching the
intestines. So those with CF do not absorb
nutrients from their food well, and they
eliminate nondigested food through the bowel,
resulting in very large stools. Because so little
food is absorbed, those with CF have difficulty
gaining and maintaining weight, despite a healthy
appetite and diet.
Cystic Fibrosis...
34
This mother pounds on her daughters chest
several times a day in order to dislodge the
thick mucous from lung sacs and give some
breathing relief.
Cystic Fibrosis...
Cystic Fibrosis is a genetic disorder, with over
95 of all cases diagnosed in Caucasians. One
out of every 31 men and women possess an abnormal
copy of the CF gene. If the child inherits one
abnormal copy of the CF gene from its mother and
one from its father, then they will suffer from
cystic fibrosis. It occurs in 1 out of 2500
births. Most victims of cystic fibrosis succumb
to the disease before age 30.
35
Dwarfism is a genetic/genetic linked disorder.
All forms of dwarfism are characterized by small
stature. The overwhelming majority of these
individuals enjoy normal intelligence, normal
life spans, and reasonably good health. Medical
problems are often linked to orthopedic
complications.
Dwarfism...
In most forms of dwarfism, only the long bones
are shortened. This produces a body image that
is quite disproportionate. Dwarfs, men and women,
rarely grow over 4 10 tall.
36
Dwarfism...
The terms dwarf and midget often invite bias, and
the term little people is preferred today.
Little people have organized into national and
international groups, sharing information and and
addressing issues of concern. Sizes of clothing
and furnishings present constant problems, as
well as car air bags.
One form of dwarfism is caused by pituitary
dysfunction. Not enough growth hormones are
produced. Diagnosis is often not made for
several years and it is difficult to pinpoint
which hormones are deficient. These dwarfs have
body parts in normal proportion, and used to be
called midgets.
37
Sickle Cell Anemia...
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
Named after this cutting tool a sickle.
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.
38
Sickle cell anemia...
Symptoms often appear after the child reaches the
age of six months. One of the first signs is
painful swelling of the hands or the feet or
both. The child may cry frequently and not eat
much. The whites of the eyes may appear yellow.
The tongue, lips, and palms may be paler than
normal. Children showing these symptoms should be
taken to a hospital, where a blood test can show
if the problem is sickle-cell anemia.
When sickled cells clog blood vessels, pain most
commonly affects the joints. A severe crisis can
also disrupt the work of the brain, the lungs,
the heart, the kidneys, and the spleensometimes
with fatal consequences. Leg ulcers in the ankle
region may persist for years. Children risk
seizures or strokes. Those with sickle-cell
anemia are especially prone to infectious
diseases, since the disorder weakens natural
defenses. Infection is a common cause of death.
39
MONEY MEANS...
HOPE!
BECAUSE MONEY PROVIDES RESEARCH FOR A CURE!
40
BIRTH DEFECTS
41

• Preparing individuals for life and work
• Strengthening families
• Empowering communities
• Created by Barbara L. Swarthout, Family
  Consumer Sciences teacher at Elkhorn High School