Transcript Problems to pregnancy and intro to heredity

Problem Pregnancies
Birth Defects
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 called 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.
--A parable of the Preacher of Dubno from Jewish
folklore
Conclusion
This story can easily be equated 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 himself/herself in
life. Rather than emphasizing the
problem, we must focus on the abilities of
the person
Discussion
 How may of you know someone who has
had a problem pregnancy?
 Did she ever think anything like that
could happen to her?
No one plans on having a problem
pregnancy, but everyone should know
something about the potential problems
in order to safeguard their health and the
health of their fetus.
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 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
What is a Birth Defect?
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An abnormality of structure, function or
body metabolism (inborn error of body
chemistry) present at birth that results
in physical or mental disability or is
fatal.
What causes birth defects?
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Both genetic and environmental factors
can cause birth defect. However, the
causes of about 60% of birth defects
are currently unknown.
A single abnormal gene can cause birth
defects. Every human being has about
100,000 genes that determine traits like
eye color, hair, etc.
Can birth defects be prevented?
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While the causes of most birth defects are not
known, there are a number of steps a woman can
take to reduce her risk of having a baby with a birth
defect.
Visit a health care provider for a pre-pregnancy
check up. Especially if a woman has health problems
When pregnant take daily multivitamin containing
400 mg of the B-vitamin folic Acid
Avoid alcohol, drugs, smoking, prescription or overthe-counter medication with out checking with her
health care provider.
Factors that contribute to
Birth Defects:
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Overweight
Underweight
Jewish decent
African American
Last birth was less than 12 month ago
Has had a baby that weighed less than d
½ pounds
Has had 3 or more miscarriages
Has had more than 5 pregnancies
Has had a still born baby
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Drinks alcohol
Has personal habits that are different
from most people
Uses prescription drugs
Has used street drugs
Takes vitamins
Drinks caffeine
Has had exposure to chemicals
Live in a home built before 1955
Constant exposure to cats
Has had x-rays during pregnancy
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High blood pressure Thalassemia
Diabetes
Birth defects
Hemophilia
Mental retardation
Sickle cell anemia
Cystic Fibrosis
Health problems:
Genital herpes
Gonorrhea
Syphilis
Epilepsy
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Diabetes
High blood pressure
Heart disease
Anemia
No immunizations against rubella
Rh factor
Miscarriage
Can some birth defects be
diagnosed before birth?
Some birth defects can be diagnosed
before birth. Some prenatal tests that can
be taken are:
 Ultrasound
 Amniocentesis
 Chronic villus sampling
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Can birth defects be treated before birth?
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Advances in prenatal therapy now make it
possible to treat some birth defects before
birth.
Prenatal surgery – urinary-tract blockages,
rare tumors in the lungs, spina bifida, ph
disease,
Types of Birth Defects
1. Malformations present at birth
defects such as congenital heart malformation, spina bifida (open
spine), cleft palate, clubfoot
2. Inborn errors of metabolism
Defects such as PKU, Tay Sachs disease
3. Blood Disorders
Defects such as sickle cell anemia, hemophilia, thalassemia.
4. Chromosomal Abnormalities
Conditions such as Down’s Syndrome, Klinefelter syndrome, Turner
Syndrome.
5. Prenatal damage
Cases include certain infections, drugs, maternal disorders such as
diabetes, high blood pressure, Rh disease, umbilical cord accidents,
difficult labor or delivery, premature birth.
Preventing Birth Defects
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Nutrition
Alcohol
Smoking
Drugs
STDs
Rubella
Parasites
Radiation
Student Reports
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Divide students into groups of 3.
IN your group, come up with as many birth
defects you can think of as a group.
The group that has the most that no one else
has, WINS!
Problem Pregnancies
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Anyone can have
it. More common
in some races
Appears at birth
Birth defect
Roof of mouth
(palate) not
joined.
Treated with
surgeries.
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Anyone can have it
Present at birth
Many reasons for
it.
Foot and ankle
twisted making it
impossible to
walk.
Treated with
surgery and shoes.
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Sex Linked-Males
Present at birth
Inability to
distinguish
certain colors.
No cure—learn to
accommodate
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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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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
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More common to
young or older
parents or genetic
tendency
Present at birth
21st Chromosome
error
Varies from mild to
severe
Surgery for heart
defect. Help as
needed
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Down syndrome (DS), also called Trisomy 21,
is a condition in which extra genetic material
causes delays in the way a child develops,
both mentally and physically. It affects about
1 in every 800 babies.
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In most cases of Down syndrome, a child gets an
extra chromosome 21 — for a total of 47
chromosomes instead of 46. Although no one
knows for sure why DS occurs and there's no way
to prevent the chromosomal error that causes it,
scientists do know that women age 35 and older
have a significantly higher risk of having a child
with the condition.
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Kids with Down syndrome tend to share
certain physical features such as a flat
facial profile, an upward slant to the
eyes, small ears, and a protruding
tongue.
Down syndrome affects kids' ability to
learn in different ways, but most have
mild to moderate intellectual
impairment.
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Almost half of all children born with DS will
have a congenital heart defect.
Approximately half of all kids with DS also
have problems with hearing and vision.
Other medical conditions that may occur
more frequently in kids with DS include
thyroid problems, intestinal abnormalities,
seizure disorders, respiratory problems,
obesity, an increased susceptibility to
infection, and a higher risk of childhood
leukemia.
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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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Genetic
Shows up in
middle age.
Deterioration of
body and brain
leading to death
No cure
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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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X-linked genetic
Present at birth
or later in life
Weakening and
wasting away of
muscles.
Sometimes death
No cure
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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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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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Phenylketonuria (PKU) is an inherited
disorder that affects about 1 in every
10,000 people: they cannot break down the
protein from food in the usual way.
PKU leads to mental retardation if
untreated.
PKU is one of the few genetic diseases that
can be controlled by diet.
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Polydactyly is the presence of more than
the normal number of fingers or toes. the
condition is usually inherited
Polydactyly can be corrected by surgical
removal of the extra digit or partial digit.
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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
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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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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
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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
paralyzed, poor
bladder control
Treated with
surgery and therapy
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Spina bifida is a neural tube defect
caused by the failure of the fetus's spine
to close properly during the first month
of pregnancy.
Infants born with SB sometimes have an
open lesion on their spine where
significant damage to the nerves and
spinal cord has occurred.
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Although the spinal opening can be
surgically repaired shortly after birth,
the nerve damage is permanent,
resulting in varying degrees of paralysis
of the lower limbs.
Environmental
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The baby
receives
nourishment
through the
placenta
Anything the
mother takes
into her body the
baby gets too!
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No drugs should be taken
by a pregnant woman,
unless prescribed by a
physician.
90% of over-the-counter
drugs available have
never been tested for
their effects on the
unborn.
No pregnant woman
should take any illegal
drug because of the high
rate of birth defects.
Men planning for future
fatherhood, should not
use illegal drugs because
of the effect upon the
sperm.
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What prescription
drugs can a
pregnant woman
take?
Tylenol, Advil,
Aleve?
ALWAYS ASK
YOUR DOCTOR
FIRST!
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Prematurity, neonatal
intoxification and
withdrawal, decreased
alertness, and an increase
of SIDS.
Symptoms in the baby
include: jitteriness,
excessive crying,
increased appetite,
extreme irritability.
Long term effects include
learning disabilities,
behavior problems and
Attention Deficit Disorder.
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Diazepam, Valium are
examples.
The baby will go
through withdrawals
for 8-10 days.
Effects on baby:
lethargy, respiratory
difficulties, apneic
spells (breathing
problems), can’t
regulate temperature,
hypotonia (muscles),
and failure to suck
effectively.
 Fetal
effects:
growth
retardation,
developmental
delays.
 Withdrawal
may
not be apparent
until 5-7 days
after birth.
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Drinking alcohol, any kind and any time,
during your pregnancy may be harmful.
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If you drink while pregnant, your baby will be
at risk to be born with
FETAL ALCOHOL
SYNDROME
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FETAL ALCOHOL SYNDROME is caused by drinking alcoholic beverages
while pregnant. The cause of this birth defect is considered to be
“environmental”.
◦ Leading cause of mental
retardation, or some
degree of mental disability
◦ Short attention span
◦ Hyperactivity
◦ Social and behavior
problems
◦ Abnormally small at birth
◦ Small head circumference
◦ Small, widely spaced eyes
◦ Flat mid-face
◦ Thin upper lip and
underdeveloped jaw
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Low birth rate
the more a woman
smokes, the smaller her
baby will be.
Increases the risk of
Sudden Infant Death
Syndrome
Increased risk of
spontaneous abortion,
fetal death, low
implantation of the
placenta, premature
separation of the
placenta, bleeding and
pre-term delivery.
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Low Birth Weight
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Conjunctivitis (Pinkeye)