Transcript Birth Defects/Genetic Disorders.

Birth Defects/Genetic
Disorders.
What can go wrong?
What is a birth defect?
• An
abnormality of structure, function, or
body metabolism that often results in a
physical or mental handicap, a shortened
life, or death.
• Who
• Did
knows someone that was born with a defect?
they expect that to happen?
FACTS
•
About 150,000 babies are born each year with birth
defects.
•
The parents of one out of every 28 pregnancies 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
5 classifications for birth
defects
1.
Malformation present at birth
2.
Inborn errors of metabolism
3.
Blood disorders
4.
Chromosomal abnormalities
5.
Prenatal damage
What causes a birth defect?
• Heredity—20
%
• Environment–
• Combination
– 60 %
20%
of heredity and environment
The first six weeks after
conception is the most sensitive
period during prenatal
development for birth defects
Causes of birth defects
A.
Direct metabolic disorders
B.
Maternal age
C.
Number and spacing of prior
pregnancies
Environmental Factors
Diet
Smokin
g
Prevention
1.
Early and regular prenatal care
2.
Vaccines
3.
RH vaccine during and after pregnancy
4.
Genetic counseling
5.
Become educated
Detecting Birth defects
1.
Amniocentesis: surgically removing a small
amount of amniotic fluid to examine fetuses cells.
Detecting Birth defects
1.
Amniocentesis: surgically removing a small
amount of amniotic fluid to examine fetuses cells.
2.
Ultrasound: image of the baby to show the
development of the fetus
Detecting Birth defects
1.
Amniocentesis: surgically removing a small
amount of amniotic fluid to examine fetuses cells.
2.
Ultrasound: image of the baby to show the
development of the fetus
3.
Chorionic villus biopsy:
surgically removing cells from the
fetus. Only done under extremely serious
conditions and usually done earlier in
pregnancy with quicker results.
Cleft Lip/Pallet
Cleft Lip
•
The lip forms between the fourth and seventh weeks of
pregnancy.
•
A cleft lip happens if the tissue that makes up the lip
does not join completely before birth.
•
This results in an opening in the upper lip. The opening
in the lip can be a small slit or it can be a large opening
that goes through the lip into the nose.
Cleft Pallet
•
The roof of the mouth (palate) is
formed between the sixth and ninth
weeks of pregnancy.
•
A cleft palate happens if the tissue
that makes up the roof of the mouth
does not join together completely
during pregnancy.
•
For some babies, both the front and
back parts of the palate are open.
For other babies, only part of the
palate is open.
Occurrence
• CDC
recently estimated that, each year in the
United States, about 2,650 babies are born with
a cleft palate and 4,440 babies are born with a
cleft lip with or without a cleft palate.
• Isolated
orofacial clefts, or clefts that occur with
no other major birth defects, are one of the most
common types of birth defects in the United
States
Causes
•
Multifactorial
•
This means the causes of orofacial clefts among most
infants are unknown.
•
Some children have a cleft lip or cleft palate
because of changes in their genes.
•
Cleft lip and cleft palate are thought to be caused by a
combination of factors, such as
 things the mother comes in contact with in her environment,
 what the mother eats or drinks,
 certain medications she uses during pregnancy.
Treatment: Surgery
Clubfoot
• Can
affect anyone
• Multifactorial
Effects on Person
• Foot
and ankle twisted
making it impossible to
walk normally.
Treatment
• Surgery
• Corrective
shoes
Color Blindness
• Affects
Males
• X-linked
Treatment
• None
• Just
adapt over time
Cystic Fibrosis
• Affects
Anyone
• Recessive
What is it?
•
is an inherited disease
•
causes thick, sticky mucus to form in the
lungs, pancreas and other organs.
•
In the lungs, this mucus blocks the airways,
causing lung damage and making it hard to
breathe.
•
In the pancreas, it clogs the pathways
leading to the digestive system, interfering
with proper digestion.
Treatment
• Treatments
the years.
have improved over
• 50
years ago children with CF
would die before elementary
school.
• Now
children with CF that is
treated properly can live in to
their 30’s, 40’s, 50’s, and beyond.
• The
treatment type would be
respiratory treatments.
Diabetes
• Can
Affect
Anyone
Method of Inheritance
• Multifactorial
• Type
1- Insulin Dependent
• Type
2- Insulin Resistance/ Adult onset
What is it?
• Abnormal
metabolism of
sugar because
the body does
not produce
enough
insulin.
Treatment
• Insulin
• Diet
shots
and Exercise
Downs Syndrome
People Affected
• More
common to
younger (teen parents)
or older parents. (40+)
• Also
more common if
you have already had a
down syndrome child.
Method of Inheritance
• Chromosomal
• Child
Error
has an extra 21st
chromosome
Physical Features
•
Oval shaped
eyes
•
Short neck
•
Back of head is
flat
•
Big tongue
•
Small ears
•
Flat nose
•
Short and wide
•
Loose joints
•
Heart problems
•
Some form of
mental
retardation
Treatment
• Surgery
• Special
for heart therapy.
assistance.
Hemophilia
• Affects
Males
• X-linked
What is it?
•
The absence of clotting factor in
blood.
•
Causes crippling.
•
Death from internal bleeding.
Treatment
• Blood
• Avoid
transfusions
emotional
stress.
Huntington’s Disease (Chorea)
•
Very rare.
•
Parents must have it to
pass it on.
•
Dominant.
What is it?
•
The deterioration of body and brain in middle age.
•
Death.
Treatment: NONE
Hydrocephalus
What is it?
•
Obstruction causes water
on the brain.
•
Produces brain damage
and death.
Method of Inheritance
• Multi-factorial
Treatment: Surgery
• Surgery
is performed
to put in a shunt which
drains excess fluid.
Marfan’s Syndrome
•
Very rare.
•
Parents must have it to pass
it on.
•
People with long bony limbs.
•
Dominate
What is it?
•
Disorder of connective
tissue.
•
Effects the tissue that
strengthens the bodies
structure.
•
Causes heart
malformation, hearing
loss, eye weakness.
•
If severe death.
Treatment
• Heart
surgery
• Antibiotics
• Physical
therapy
• Regular
checkups
Muscular Dystrophy
• Affects
•x
Anyone
linked
• Doesn’t
show up until
childhood and
sometimes adult hood.
• Multifactorial
Effects on Person
•
Weakening of muscles.
•
Inability to walk or move
normally.
•
Can eventually lead to
death.
Treatment: NONE
Phenylketonuria (PKU)
• Anyone
can be
affected.
What is it?
•
PKU stands for “phenylketonuria”.
•
It is one type of amino acid disorder.
•
People with PKU have problems breaking down an amino
acid called phenylalanine from the food they eat.
Method of Inheritance
• Recessive
Treatment
•
Preventable Diet
•
If not treated infants
with PKU can be late to
sit up, crawl, and walk.
•
If not treated children
with PKU will have
mental retardation.
Polydactyl
• Affects
girls.
more boys than
• Parents
must have it to
pass it on.
• Dominant.
What is it?/Treatment
• Extra
fingers and toes.
• Treatment:
Corrective surgery.
Sickle Cell Anemia
What is it?
•
•
Sickle cell disease is a genetic blood disorder that’s passed down through families.
Both parents need to carry the sickle cell gene for their baby to have it.
•
Sickle cell disease causes the body to sometimes make abnormal hemoglobin.
•
Hemoglobin is the red blood cell which carries oxygen to all parts of the body.
•
Normal red blood cells makes them soft, round, and flexible, and able to move easily
around the body.
•
At times when people with sickle cell disease produce abnormal red blood cells the
cells become hard, sticky, and shaped like a crescent.
•
These sickle cells can get stuck in the blood vessels, blocking the flow of blood and
causing pain.
People Affected
• Primarily
affects
African Americans
Method of Inheritance
• Recessive
Effects on Person
• Abnormal
blood cells
• Pain
• Heart
• Less
and kidney failure
oxygen to other body parts
• Death
• Severe
in childhood
damage to adult vital organs
Treatments
• Certain
pain
medications
• Blood
transfusions
Spina Bifida: Neuro Tube Defect
• Can
affect anybody.
What is it?
•
type of birth defect called a neural
tube defect.
•
It occurs when the bones of the
spine (vertebrae) don't form
properly around part of
the baby's spinal cord.
•
Spina bifida can be mild or severe.
The mild form is the most common.
People Affected
• Anyone
• Infants
can be affected.
with spina-bifida have
a higher chance.
Method of Inheritance
• Multifactorial
Effects on Person
•
Varying degrees from slight
cysts to open spine sores.
•
Infertile
•
Legs paralyzed
•
Poor bladder and bowel control.
Treatment
•
For severe cases:
surgery
•
For mild cases:
physical therapy.
Tay-Sachs
• Affects
Jews
(ethnic not
religion)
• Appears
at 6
months. Dead
by the age of 3.
• Recessive.
What is it?
• An
enzyme disease that causes the
inability to break down fatty deposits
in the brain and nerve cells.
• The
cells eventually clog and shut
down the nervous system.
• Child
is appears healthy at birth and
dies by the age of 3.
• No
treatment or cure.
Thalassemia (Cooley’s Anemia)
• Affects
Greek and
Italian Race.
• Appears
at birth.
• Recessive.
What is it?
• Abnormal
blood cells.
• Causes
paleness and
listlessness.
• Low
resistance to infections.
• Person
effected cannot
produce enough red blood
cells.
• The
liver and spleen are
enlarged.
Treatment
• Blood
transfusion.
• Spleen
surgery.
Quiz
5 questions
1. What are the two categories for types of birth defects?
2. What is amniocentesis?
3. What causes Down syndrome?
4. What does X-linked defect mean?
5. What can the body not absorb with PKU defect?
6. What is the defect that part of the nervous system grows
outside of the spine? (List both names)
1.
What are the two categories for types of birth defects?
2.
What is amniocentesis? A test when they take a sample of the
amniotic fluid. Only done when child is at risk for birth defects.
3.
What causes Down syndrome? One extra Chromosome on #21
4.
What does X-linked defect mean? Sex-linked defect. Mom
carries and will be manifest in the son.
5.
What can the body not absorb with PKU defect? Protein
6.
What is the defect that part of the nervous system grows
outside of the spine? (List both names) Spina bifida, and Nerotube defect.