INTRODUCTION

Approximately 3% of pregnancies are complicated by birth defects

or genetic disorders.

1 Chromosomal abnormalities are present in approximately 1 in

150 live births

2. Congenital malformations remain the leading cause of infant

death and a leading cause of childhood death.

3 These chromosomal abnormalities include aneuploidy (defined

as having one or more extra or missing chromosomes),
translocations, duplications, and deletions.

The most common chromosomal disorder is trisomy 21 (Down

syndrome), with an incidence of 1 per 800 live births.
Table 1
Incidence of common genetic abnormalitiess

Trisomy 21 1 in 800 live births

Trisomy 18 1 in 7500 live births
Trisomy 13 1 in 15,000 live births
Monosomy X (Turner syndrome) 1 in 5000 girls
Trisomy X 1 in 1000 girls
XXY (Klinefelter syndrome) 1 in 1000 boys
XYY 1 in 1000 boys
 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.
 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 top arrow points
to a part of the spine
that is properly
closed.
The area where the The bottom arrow
bones are not properly points to an area that
closed allows the is improperly closed…
cord, tissue, and/or spina bifida.
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.
 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.
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.
 The person with spina bifida
may benefit from the use of
special adaptive equipment…
such as braces, walkers, carts,
and wheelchairs.
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.
 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.
 It is named after
it’s 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 Marfan’s
Syndrome. Life expectancy may be shortened by
complications from the heart abnormalities.
 A couple of easy diagnostic
tools for Marfan Syndrome.
Symptoms of Marfan Syndrome
can be easily confused with
other disorders.
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.
 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.
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.
 A miniature pump
called a shunt is
placed in the head
This baby recovers after having
to remove off
surgery to install a shunt.
excess fluid.
 If you look closely, you can see a scar above this baby’s 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.
 ANY consumption of alcohol
during ANY time during the
gestation period can damage a
baby’s 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.
Facial characteristics that suggest the diagnosis of FAS.
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.
 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.

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
Careful or after birth
monitoring during * Exposure of an infant to severe infection
the birth process shortly after birth or the first few weeks of life.
may prevent * An accident in the early years of life; for
some types of example, with a near drowning or motor
brain injury. vehicle accident.
 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.
 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
hemangiomas…even removal
of the “stain” variety.
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
retardation. 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.
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.
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.
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.
 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!
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.
 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.
 This mother pounds on her
daughter’s chest several times a day
in order to dislodge the thick mucous
from lung sacs and give some
Cystic Fibrosis is a breathing relief.
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 it’s
mother and one from it’s
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.
 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.

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.
 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 One form of dwarfism is caused by
and addressing pituitary dysfunction. Not enough
issues of concern. growth hormones are produced.
Sizes of clothing Diagnosis is often not made for several
and furnishings years and it is difficult to pinpoint which
present constant hormones are deficient. These dwarfs
problems, as well have body parts in normal proportion,
as car air bags. and used to be called midgets.
 Sickle cell anemia is an
inherited blood disorder.
In sickle cell anemia, the body NORMAL ABNORMAL
produces an abnormal form of
hemoglobin. Hemoglobin, a
protein responsible for Named after
transporting oxygen to all this cutting
parts of the body, is a tool… a
component of red blood cells. 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.
 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 spleen—sometimes 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.
BECAUSE MONEY PROVIDES RESEARCH FOR A CURE!