Transcript Birth Defects - davis.k12.ut.us

Birth Defects
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The King and the Scratched Diamond…
Once there was a king who had a beautiful, large pure
diamond. There was no other diamond like it in the
world. One day, it became deeply scratched. The king
told his best diamond cutters, “I’ll promise you a great
reward if you can remove the imperfection from my
jewel.” But they could not. The king was very upset.
Many months later, a man came to the king. He promised
to make the diamond even more beautiful than it ever
had been. Impressed by the man’s confidence, the king
consented. He watched as the man engraved an
exquisite rosebud around the blemish and used the
scratch to make its stem.
--Parable of the Preacher of Dubno from Jewish Folklore
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Birth Defects: Define and Understand
• An abnormality of structure, function, or body
metabolism which often results in physical or mental
handicap, a shorter life span, or is fatal.
• 20% Heredity
• 20% Environment
The first 6 weeks of prenatal development is the most
sensitive period for birth defects.
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Birth Defects: Methods of Inheritance or
Classification
• Chromosomal error: The fertilized egg cell, which
contains chromosomes in an abnormal number,
shape/structure, or arrangement.
• Blood disorder: reduced or mission blood
component, or an inability to do its full share of the
work.
• Congenital malformation: a condition that is present
a t birth where part of the body might be missing,
misshapen, or duplicated.
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Birth Defects: Methods of Inheritance or Classification
• Perinatal damage: factors, mainly environmental, that cause
damage to the fetus before or during birth like infections,
chemical substances, complications and natural disorders of
abnormalities.
• Metabolic defects: disease of the body chemistry that cause
the inability of cells to produce necessary substances like
enzymes or proteins or to carry substances from one place to
another.
• Sex Linked/x-linked: when chromosome from one mom is
faulty, there is a 50/50 chance the child inheriting the
disorder.
• Multi-factorial: The interaction of many genes with other
genes or with environmental factors.
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Birth Defects: Related Terms to Know
• Carrier: a person that carries and passes on a disease
or condition without having it him/herself.
• Dominant: when a parent is a carrier for a disorder or
trait and they have a 50% chance of passing it on to
the child.
• Recessive: both parents are carriers of the disorder
of trait so there is 25% chance of the child inheriting
abnormal genes and having the disorder, a 25%
chance of receiving normal genes, and a 50% chance
of just being a carrier.
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Birth Defects: Maternal and Paternal Factors that Influence Birth
Name and explain 5 of
the MATERNAL factors
that influence a baby of
having a birth defects
1. Age…
2. ____________
3. ____________
4. ____________
5. ____________
Name and explain 5 of the
PATERNAL factors that
influence a baby of having a
birth defects
1. Diet…
2. ____________
3. ____________
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Birth Defects: Maternal and Paternal Factors that Influence
Birth
• Women have all of the eggs/ova needed to create a
child before they themselves are even born.
• Men create new sperm about every 72 hours.
• Sperm can become mutated due to the father’s
environment, heredity or a combination of both, but
even damaged sperm can fertilize an egg and create
a child.
• Men should follow ALL guidelines given to a woman
to prevent birth defect if they are sexually active.
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Birth Defects: Environmental or Lifestyle factors
that can cause birth defects
• List 5 Factors:
(example: STI’s)
Of all of the environmental and lifestyle factors
presented, which are preventable?
Or what would be considered your fault?
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Birth Defects: Medical Care to Prevent and/or
Detect Birth Defects
• Genetic Counseling: Type of medical care that helps couples to
understand their genetic codes and how they might affect their
children
• Amniocentesis: is a test that is performed during pregnancy
where a small amount of amniotic fluid is drawn out and
examined to detect chromosomal abnormalities.
• Ultrasound: is a high frequency sound waves locate the position,
size and structure of the fetus, and placenta in the womb.
A pregnant woman should go to 13 prenatal check-ups before the
baby is born and begin these by week 13 of her pregnancy to
ensure a higher percentage of a healthy pregnancy.
A miscarriage is natures way of expelling a baby incapable of
surviving.
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Birth Defects
• This story can easily be related to birth defects. Even
though a child with a birth defect may not appear to be
perfect, he/she still has great abilities and opportunities
to apply him/herself in life. Rather than emphasizing the
problem, we must focus on the abilities of the person.
• Birth defect:
– An abnormality that affects the structure or function of the
body.
– Everyone is born with some type of imperfection.
– Most, like a birthmark, are relatively minor.
– Some are born with more serious problems. These are referred
to as birth defects.
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Factors that Influence Birth Defects
• Heredity
• Environment
• A combination of heredity and the environment
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Causes of Birth Defects
• Differ greatly!
• Caused by…
– Inherited from one or both parents.
– Controllable factors in the environment.
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Environmental Factors
•
•
•
•
Diet
Diseases or infections of the mother
Harmful substances ingested by the mother
Exposure to outside hazards such as radiation
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Detecting Birth Defects
• Amniocentesis:
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Not a routine procedure
Long needle inserted into the uterus.
Amniotic fluid is removed and tested
3-4 weeks to get results
Involves risk of infection, and causing the body to abort the fetus
Only used when there is a valid medical reason, Down’s Syndrome
• Ultrasound:
– Imaging procedure in which sound waves are bounced off of the fetus to
produce a picture.
– Can show the development of a fetus and can detect certain defects
• Chorionic Villus Biopsy:
– Done under extremely serious conditions.
– Samples of villi (contained in the membrane containing amniotic fluid) are
snipped or suctioned off for analysis.
• If one of these tests indicates that a developing child has problems,
the couple can confer with their doctor and decide what to do.
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Helping to Prevent Birth Defects
•
•
•
•
•
Early and regular prenatal care
Vaccines
Rh vaccine during pregnancy
Consult with genetic services
Become educated
Cleft lip/pallet
• Anyone can have it.
More common in
some races such as
Orientals and Native
Americans
• Appears at birth
• Congenital
malformation , Multifactoral
• Roof of mouth (palate)
not joined.
• Treated with surgeries.
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Cleft Lip/Palate
•
•
•
•
Cleft palate
Cleft palate occurs when the roof of the mouth does not
completely close, leaving an opening that can extend into
the nasal cavity.
The cleft may involve either side of the palate. It can
extend from the front of the mouth (hard palate) to the
throat (soft palate). Often the cleft will also include the lip.
Cleft palate is not as noticeable as cleft lip because it is
inside the mouth. It may be the only abnormality in the
child, or it may be associated with cleft lip or other
syndromes. In many cases, other family members have
also had a cleft palate at birth.
Cleft lip
Cleft lip is an abnormality in which the lip does not
completely form during fetal development. The degree of
the cleft lip can vary greatly, from mild (notching of the lip)
to severe (large opening from the lip up through the nose).
Cleft Lip
Cleft Palate
Clubfoot
•
•
•
•
Anyone can have it
Present at birth
Many reasons for it.
Foot and ankle
twisted making it
impossible to walk.
• Treated with surgery
and corrective shoes.
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Club Foot
• Clubfoot or talipes is a congenital
deformity of the foot that occurs in
approximately 1:1000 births with half of
them being bi-lateral (both feet) and it is
twice as common in boys as in girls. The
foot has a typical appearance of pointing
downwards and twisted inwards. Since the
condition starts in the first trimester
of pregnancy, the deformity is quite
established at birth, and is often very rigid.
• Treatment options:
– Serial Plaster Casting
– Splints
– Non-Surgical Treatment Methods
• Ponseti Method
• French Physiotherapy Method
• Botox - botulinum toxin
– Surgery
Club Foot
Down Syndrome
• More common to young or
older parents or genetic
tendency
• Present at birth
• 21st Chromosome error
• Varies from mild to severe
• Mental retardation, oval
shaped eyes, thick tongue,
short neck, small ears, flat
and wide nose, short and
loose joints, common
heart problems
• Surgery for heart defect.
Help as needed
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Down’s Syndrome
• Down syndrome (DS) is a condition in which extra
genetic material causes delays in the way a child
develops, and often leads to mental retardation. It
affects 1 in every 800 babies born.
• Normally, at the time of conception a baby inherits
genetic information from its parents in the form of
46 chromosomes: 23 from the mother and 23 from
the father. In most cases of Down syndrome,
however, a child gets an extra chromosome - for a
total of 47 chromosomes instead of 46. It's this extra
genetic material that causes the physical and
cognitive delays associated with DS.
• The symptoms of Down syndrome can vary widely
from child to child. While some kids with DS need a
lot of medical attention, others lead very healthy and
independent lives.
Down’s Syndrome
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Fetal Alcohol Syndrome (FAS)
• If mom drank alcohol while pregnant
• Appears at birth
• Method of Inheritance:
– Prenatal
• Effects:
– Some form of mental retardation
– Facial abnormalities
– Deformed limbs
• Treatment: Special assistance
Muscular Dystrophy
• Anyone
• Present at birth or
later in life
• Multifactor, X-linked
genetic
• Weakening and
wasting away of
muscles. Sometimes
death.
• No cure
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Muscular Dystrophy
• Muscular dystrophy (MD) is a genetic disorder that
weakens the muscles that help the body move.
People with MD have incorrect or missing
information in their genes, which prevents them
from making the proteins they need for healthy
muscles.
• MD weakens muscles over time, so children, teens,
and adults who have the disease can gradually lose
the ability to do the things most people take for
granted, like walking or sitting up. Someone with
MD might start having muscle problems as a baby
or their symptoms might start later. Some people
even develop MD as adults.
• The life expectancy for many of these forms of
muscular dystrophy depends on the degree to
which a person's muscles are weakened as well as
how much the heart and lungs are affected.
Muscular Dystrophy
PKU
•Anyone
•Birth
•Recessive disorder, metabolic
defects
•Abnormal digestion of protein,
mental retardation,
hyperactivity
•Preventable diet
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PKU (Phenylketonuria)
• Phenylketonuria (PKU) is an recessive
genetic disorderr characterized by a
deficiency in the enzyme phenylalanine
hydroxylase (PAH).
• This enzyme is necessary to metabolize the
amino acid phenylalanine to the amino acid
tyrosine. When PAH is deficient,
phenylalanine accumulates and is converted
into phenylketones, which are detected in
the urine.
• Left untreated, this condition can cause
problems with brain development, leading
to progressive mental retardation and
seizures. However, PKU is one of the few
genetic diseases that can be controlled by
diet. A diet low in phenylalanine and high in
tyrosine can bring about a nearly total cure.
Spina Bifida
• Anyone can get it
• Present at birth
• Many factors cause it—
current research links it to
Folic Acid deficiency in
mother
• Can be slight cyst on spine
to open spine—legs are http://www.michaelclancy.com/slideshow/
paralyzed, poor bladder During a spina bifida corrective procedure at twentyone weeks in utero, Samuel thrusts his tiny hand out
control
of the surgical opening of his mother's uterus. As the
• Sores, infertile, legs,
paralyzed, poor bladder, doctor lifts his hand, Samuel reacts to the touch and
squeezes the doctor's finger. As if testing for
bowel control, death
strength, the doctor shakes the tiny fist. Samuel held
• Treated with surgery and firm. At that moment, I took this "Fetal Hand Grasp"
therapy
photo.
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Spina Bifida
• Spina bifida is a birth defect that involves the incomplete
development of the spinal cord or its coverings. The term spina
bifida comes from Latin and literally means "split" or "open" spine.
• Spina bifida occurs at the end of the first month of pregnancy when
the two sides of the embryo's spine fail to join together, leaving an
open area. In some cases, the spinal cord or other membranes may
push through this opening in the embryo's back. The condition can
typically be detected before a baby is born and treated right away.
Neural Tube Defects
• Spina Bifida
Neural Tube Defects
• Anencephaly
Neural Tube Defects
• Encephaloceles
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• Encephalocele, sometimes known by the Latin name
cranium bifidum, is a neural tube defect characterized by
sac-like protrusions of the brain and the membranes that
cover it through openings in the skull. These defects are
caused by failure of the neural tube to close completely
during fetal development.[1]There have been studies and
evidence linking NTD's to folic acid deficiency. The
severity of encephalocele varies, depending on the
location. Currently, the only effective treatments are
reparative surgeries following birth. The degree to which
they can be corrected varies greatly on where and how
big the encephalocele is.
Drug Related Birth Defects
• Thalidomide is a sedative-hypnotic, and multiple myeloma medication.
The drug is a potent teratogen in rabbits and primates including humans: this
means that severe birth defects may result if the drug is taken during pregnancy
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• From 1956 to 1962, approximately 10,000 children in Africa and Europe
were born with severe malformities, including phocomelia, because their
mothers had taken thalidomide during pregnancy.[4]
• The Australian obstetrician William McBride discovered the link between
birth defects and the drug, and was awarded a medal and prize money by
the prestigious L'Institut de la Vie in Paris.[5]
• The impact in the United States was minimized when Frances Oldham
Kelsey refused FDA-approval for an application from Richardson Merrell to
market it saying it needed more study. Richardson Merrell gave the tablets
to doctors with the understanding that it was still under investigation. 17
children in the U.S. were born with the defects.[6]
• In 1962, the United States Congress enacted laws requiring tests for safety
during pregnancy before a drug can receive approval for sale in the U.S.[7]
Other countries enacted similar legislation, and thalidomide was not
prescribed or sold for decades.
• However, it was soon found that it was only one particular optical isomer
of thalidomide which caused the teratogenicity. The pair of enantiomers,
although mirror images of each other, cause different effects.[8]
STD Related Birth Defects
• Low Birth Weight
• Conjunctivitis (Pinkeye)
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Polydactyl
• A congenital anomaly consisting of
supernumerary fingers or toes. Each
hand or foot has six digits.
• Although the condition is usually not
life-threatening or even particularly
debilitating, most people in Western
societies have the extra digits removed
surgically.
• The extra digit is usually a small piece of
soft tissue; occasionally it may contain
bone without joints; rarely it may be a
complete, functioning digit.
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Type 1 Diabetes
• A form of diabetes which has its onset in childhood. Also
referred to as type I diabetes, juvenile onset diabetes or
insulin-dependent diabetes. The exact cause is unknown but
genetic factors seem to play a major role.
• Symptoms include excessive thirst, increased urination,
weight loss (despite increased appetite), nausea, vomiting,
fatigue and absent menstruation.
• Treatment includes education and regular insulin therapy.
Diabetes
• Anyone can get it
• Occurs at birth or later
• Many factors—incl.
genetics and overweight
• Abnormal metabolism of
sugar & insulin
• Treated with insulin and
diet
Hemophilia
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•
•
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Sex linked—males
Present at birth
Genetic
Absence of clotting
factor
• Treated with
transfusions and
avoid injury
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Hemophilia
• Hemophilia (heem-o-FILL-ee-ah) is a rare,
inherited bleeding disorder in which your
blood doesn’t clot normally.
• If you have hemophilia, you may bleed for a
longer time than others after an injury. You
also may bleed internally, especially in your
knees, ankles, and elbows. This bleeding
can damage your organs or tissues and,
sometimes, be fatal.
• About 18,000 people in the United States
have hemophilia. Each year, about
400 babies are born with the disorder.
Hemophilia usually occurs only in males
(with very rare exceptions).
Huntington’s disease (Chorea)
• Genetic
• Shows up in middle
age.
• Deterioration of
body and brain
leading to death
• No cure
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Huntington’s Disease
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•
•
HD results from genetically programmed degeneration of nerve cells, called neurons, in certain
areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties,
and emotional disturbance.
Individual experiences mood swings or becomes uncharacteristically irritable, apathetic, passive,
depressed, or angry.
HD may affect the individual's judgment, memory, and other cognitive functions. Early signs might
include having trouble driving, learning new things, remembering a fact, answering a question, or
making a decision.
In some individuals, the disease may begin with uncontrolled movements in the fingers, feet, face,
or trunk.
The disease can reach the point where speech is slurred and vital functions, such as swallowing,
eating, speaking, and especially walking, continue to decline. Some individuals cannot recognize
other family members. Many, however, remain aware of their environment and are able to express
emotions.
Hydrocephalus
• Anyone can get it
• Present at birth or acquired
later
• Many factors cause it
• Fluid (water) builds up on
brain causing brain damage
• Surgery to put in shunt
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Hydrocephalus
• Also called: Water on the brain
• Hydrocephalus is the buildup of too much cerebrospinal fluid in the
brain. Normally, this fluid cushions your brain. When you have too
much, though, it puts harmful pressure on your brain.
• Symptoms of acquired hydrocephalus can include:
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Headache
Vomiting and nausea
Blurry vision
Balance problems
Bladder control problems
Thinking and memory problems
• Hydrocephalus can permanently damage the brain, causing
problems with physical and mental development. If untreated, it is
usually fatal. With treatment, many people lead normal lives with
few limitations. Treatment usually involves surgery to insert a
shunt.
Marfan Syndrome
• Genetic—very rare
• Present at birth
• Heart malformed,
hearing loss, long
and bony limbs
• Treated with heart
surgery, medicine,
therapy
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Marfan’s Syndrome
• Marfan syndrome is a heritable condition that
affects the connective tissue. In Marfan
syndrome, the connective tissue is defective and
does not act as it should.
• Marfan syndrome affects men, women, and
children, and has been found among people of all
races and ethnic backgrounds. It is estimated
that at least 1 in 5,000 people in the United
States have the disorder.
• Marfan syndrome affects different people in
different ways. The body systems most often
affected by Marfan syndrome are:
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Skeleton
Eyes
Heart and blood vessels (cardiovascular system)
Nervous system
Skin
Lungs
Sickle Cell Anemia
• Anyone can get it—more
common in blacks
• Present at birth
• Genetic recessive
• Abnormal blood cells—
misshaped and unable
to carry oxygen
• Treated with
transfusions
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Sickle Cell Anemia
• Sickle cell anemia is an inherited blood disorder
that mostly affects people of African ancestry.
• A blood disorder that affects hemoglobin.
• Sickle cell anemia occurs when a person
inherits two abnormal genes (one from each
parent) that cause their RBCs to change shape.
Instead of being flexible and disc-shaped, these
cells are more stiff and curved in the shape of
the old farm tool known as a sickle.
• Sickle cells tend to clump together, making red
blood cells sticky, stiff, and more fragile. These
sickle cells can clog blood vessels and deprive
the body's tissues and organs of the oxygen
they need to stay healthy.
• Unlike normal RBCs that last about 4 months in
the bloodstream, fragile sickle cells break down
after only about 10 to 20 days, which usually
causes anemia.
Tay-Sachs Disease
• More common in Jews
(ethnicity, not religion)
• Diagnosed by six
months—dies around
age 3 to 5
• Genetic—recessive
• Inability to break down
fatty deposits in the
brain. Nervous system
shuts down.
• No cure
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Tay-Sachs
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•
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A baby with Tay-Sachs disease is born without one of the important enzymes, that
clear out fatty protein and other unwanted material that can interfere with
growth. As those fatty proteins build up in the brain, they hurt the baby's sight,
hearing, movement, and mental development.
Each year, about 16 cases of Tay-Sachs are diagnosed in the United States.
Although Jews of central and eastern European descent are at the highest risk for
the disease, it is now also prevalent in non-Jewish populations, including people of
French-Canadian/Cajun heritage.
A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life.
During the next months the baby will progressively lose the ability to see, hear,
and move. A red spot will develop in the back of the child's eyes. The child will
stop smiling, crawling, turning over, and reaching out for things. By the age of 2,
the child may have seizures and become completely disabled. Death usually occurs
by the time the child is 5 years old.
Cerebral Palsy
• Brain malformed,
injured at birth, or
damaged later in life
• Not inherited
• Ranges from super
intelligent to severely
retarded
• Affects brain’s ability to
control muscles
• Treat the symptoms
Thalassemia
• Genetic—recessive
• More common in
Greeks and Italians
• Present at birth
• Abnormal red blood
cells, not enough red
blood cells.
• Treated with blood
transfusions
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Cooley’s Anemia (Thalassemia)
• Thalassemia is an inherited blood disorder that
causes mild or severe anemia. The anemia is due to
reduced hemoglobin and fewer red blood cells than
normal.
• The most severe form of alpha thalassemia is
known as alpha thalassemia major. It can result in
miscarriage.
• The severe form of beta thalassemia is also known
as Cooley’s anemia.
• The most common treatment for all major forms of
thalassemia is red blood cell transfusions. These
transfusions are necessary to provide the patient
with a temporary supply of healthy red blood cells
with normal hemoglobin capable of carrying the
oxygen that the patient's body needs.
Toxoplasmosis
•
•
•
•
The earlier in pregnancy the
mother is infected, the lower is
the risk of an infection of the
fetus, but the severer is the
disease.
The later in pregnancy the
mother is infected, the higher is
the possibility of fetal infection,
and the disease is less severe
Parasitic infection from cat fecal
matter or undercooked/raw
meat
Infected children have seizures,
hearing loss, jaundice,
blindness, mental retardation
Prevent by cooking meat, not
being around cats
Color blindness
• Sex Linked--Males
• Present at birth
• Inability to
distinguish certain
colors.
• No cure—learn to
accommodate
Cystic Fibrosis
• Recessive genetic
• Usually present at
birth—can show up later
• Lack an enzyme so
mucous builds up
especially in lungs and
digestion.
• Treated with drugs, and
pounding on back.
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Cystic Fibrosis
• Cystic fibrosis is an inherited chronic
disease that affects the lungs and digestive
system of about 30,000 children and adults
in the United States (70,000 worldwide). A
defective gene and its protein product
cause the body to produce unusually thick,
sticky mucus that:
– Clogs the lungs and leads to life-threatening
lung infections; and
– Obstructs the pancreas and stops natural
enzymes from helping the body break down
and absorb food.
• In the 1950s, few children with cystic
fibrosis lived to attend elementary school.
Today, many people with the disease can
now expect to live into their 30s, 40s and
beyond.
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Color Blindness
• Color blindness, or color vision
deficiency, in humans is the inability
to perceive differences between
some or all colors that other people
can distinguish. It is most often of
genetic nature, but may also occur
because of eye, nerve, or brain
damage, or due to exposure to
certain chemicals.
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Acondroplasia (Dwarfism)
• A genetic disorder of bone growth
that is evident at birth. It affects
about one in every 20,000 births
and it occurs in all races and in both
male and female genders. It is
estimated that there are about
10,000 individuals with this disorder
in the United States.
• When a person has Acondroplasia,
abnormal cartilage at the growth
plates of the bones in the body
causes their short stature. Men with
this disorder are usually less than 52
inches tall and women are
somewhat shorter.
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Watch Elliot's Story
99 Balloons
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Reflection Questions
• Which birth defect did you find most interesting to
learn about? Why?
• Which birth defect did you find sad or scary? Why?
• Learning about genetics, heredity, and birth defects
has helped to prepare me to become a parent by….
• How are you going to use this new information to
better your future?