Birth Defects 2020

BIRTH
DEFECTS
Bell Ringer
• If you found out your unborn
child had a birth defect, how
would that make you feel?
Explain...
Abdominal Birth Def

ect
America’s Got Talent
2019
Kodi Lee
1:08:00
3
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
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: a physical or biochemical

abnormality that is present at birth and that
may be inherited or the result of environmental
influence.
• How Common Are Birth Defects?
• About 3% of U.S. babies -- around 120,000 newborns per year -- are
born with any of 45 types of birth defects, says the CDC.
THREE FACTORS THAT INFLUENCE
BIRTH DEFECTS
• Heredity
• Environment
• A combination of heredity and
the environment
LIFESTYLE CHANGES TO
PREVENT ENVIRONMENTAL
BIRTH DEFECTS
• Avoid all forms of drugs,
nicotine, and alcohol: they
can slow the fetal growth,
cause low birth weight
babies, varying levels of
intellectual disabilities,
malformations, etc. Nicotine
and tar can cause kidney
damage to the fetus.
• Drug Dependant Infant on Detox
• https://www.youtube.com/watch?v=kN4l6G3KOck
BIRTH DEFECTS
• Only use over the counter and
prescribed medication under a doctor’s
care.
• Avoid exposure to X-rays, pollutants,
and toxic substances.
• Get appropriate rest and follow stress
management techniques.
BIRTH DEFECTS
• Seek early prenatal care,
by the 13th week of
pregnancy.
• Maintain a proper diet.
The placenta does not
transfer essential nutrients
to the fetus if a woman is
undernourished.
• Exercise.
BIRTH DEFECTS
• Appropriate weight gain during
pregnancy should be 24-30
pounds.
• Receive proper immunizations
prior to becoming pregnant.
Receiving the Rubella vaccine
may be dangerous for women
who are pregnant.
• Avoid getting a STD/STI, it can
be passed onto the fetus.
PREVENT GENETIC BIRTH
DEFECTS
• Risk for genetic birth
defects increase if the age of
mother is over 35.
PRENATAL TESTING IN THE
DETECTION OF BIRTH
DEFECTS
• Ultrasound: utilizes sound waves to detect
the health and development of the fetus.
.
• Amniocentesis: inserting a needle
through the abdominal wall and into the
uterus and withdrawing some amniotic
fluid to detect birth defects
Birth
Defect
Research
14
Birth Defect Research:
You will research a few things about a chosen
birth defect. You will fill in the google doc with
the appropriate information. Your information
should include, but not limited to:
● Name of birth defect and definition
● If the birth defect has come about through
heredity, environment, or a combination of
the two
● Cause of the birth defect (if known)
● Symptoms of the birth defect
● Treatments (if any)
● Life expectancy
15
Fetal Alcohol Syndrome
Thalessemia
Cleft Lip/Palate Tay-sachs
Cerebral Palsy PKU (pyenylketonuria)
Neural Tube Defects Polydactyl
Muscular Dystrophy Club Feet
Down Syndrome Heart Defects
Huntington’s Disease Neural Tube Defects
Achondroplasia Sickle Cell Anemia
Marfan syndrome Cystic Fibrosis
Hemophilia Color Blindness
16
The following slides could help you with
your research for your birth defect, but
you shouldn’t limit your research to these
slides.
17
NINE TYPES OF BIRTH
DEFECTS
H= HEREDITY
E= ENVIRONMENTAL
C= COMBINATION OF HEREDITY AND
ENVIRONMENTAL
1. BLOOD DISORDER
Examples: Hemophilia (H) and Anemia (H)

• Affects any of the three main components of
blood:
1) Red blood cells, which carry oxygen to the
body’s tissues;
2) White blood cells, which fight infections;
3) Platelets, which help blood to clot, and
the liquid portion of blood (plasma)
HEMOPHILIA (H)
• Hemophilia (heem-o-FILL-ee-ah) is a rare,

inherited bleeding disorder.
• Symptoms: blood doesn’t clot normally. This
bleeding can damage your organs or tissues
and, sometimes, be fatal.
• Prevention: none
• Treatment: factor replacement therapy.
Hemophilia is treated by injecting the missing
factor protein into the affected person's vein.
THALESSEMIA (H)
• Symptoms: Lack of red blood cells causing

reduced oxygen flow to the organs. Causes
fatigue, paleness, and slow growth.
• Treatment: red blood cell transfusions and
donor stem-cell transplant. No cure.
2. METABOLIC DISORDER
Example: PKU (H) and Tay-Sachs (H)
• Result in metabolism problems (can’t break

down carbohydrates, proteins, and fats)
• Transforming excess nitrogen into waste
products excreted in urine, and breaking down
into substances and transporting them inside
cells.
PKU (PHENYLKETONURIA) (H)
• Phenylketonuria (PKU) is characterized by a

deficiency in the enzyme phenylalanine hydroxylase
(PAH).
• Symptoms: Left untreated, this condition can cause
problems with brain development, leading to a
progressive intellectual disability, seizures, and
stunted growth.
• Treatment: controlled by diet. A diet low in
phenylalanine and high in tyrosine can bring about a
nearly total cure.
TAY-SACHS (H)
• 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.
• Symptoms: As those fatty proteins build up in the
brain, they hurt the baby's sight, hearing,
movement, and mental development. Death
usually occurs by the time the child is 5 years
old.
• Treatment: none, no cure.
3. CHROMOSOMAL ERROR
Example: Down’s Syndrome (H)
• Occurs when the fertilized egg cell

contains chromosomes in an abnormal
structure, number, or arrangement, etc.
DOWN’S SYNDROME (H)
• Down syndrome (DS) is a condition in which

extra genetic material causes delays in the way
a child develops. They have 47 chromosomes
instead of 46.
• Symptoms: intellectual disability; heart, blood,
and digestive system difficulties
• Prevention: avoid getting pregnant after the
age of 35.
• Treatment: none
4. CONGENITAL
MALFORMATION
Example: Polydactyl, Club Feet(C), Heart
Defects, Neural Tube Defects (C)
• A condition that is present at birth.

POLYDACTYL (H)
• Symptoms: An inherited condition in which

a person has extra fingers or toes.
• 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.
• Treatment: removed surgically.
CLUB FOOT (C)
• Symptoms: when the foot is 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. Won’t be able to walk unless fixed.
• Prevention: none, can minimize the risk by not smoking or
drinking during pregnancy.
• Treatment Options:
• Serial Plaster Casting, Splints,
• Non-Surgical Treatment Methods
• Ponseti Method
• French Physiotherapy Method
• Botox - botulinum toxin
• Surgery
5. RECESSIVE INHERITANCE
Example: Sickle Cell Anemia, Cystic Fibrosis (H)
• When both genes in a pair must be

defective to cause disease.
SICKLE CELL ANEMIA (H)
• Sickle cell anemia occurs when a person inherits two

abnormal genes (one from each parent) that cause
their RBCs to change shape.
• Sickle cells tend to clump together, making red blood
cells sticky, stiff, and more fragile.
• Symptoms: tiredness, lack of appetite, and pain. Can
lead to early death.
• Prevention: none, can meet with a genetic counselor
before becoming pregnant to learn about their chances
of caring the disease.
• Treatments: blood transfusions and medications
CYSTIC FIBROSIS (H)
• Symptoms: affects respiratory and digestive

systems
• Treatment: medications and surgical
procedures. No cure.
6. DOMINANT INHERITANCE
Example: Huntington’s Disease (H)

• When the mutated gene is a dominant gene
located on one of the non-sex
chromosomes.
• You need only one mutated gene to be
affected by this type of disorder.
HUNTINGTON’S DISEASE (H)
• Symptoms: nerve cells in the brain break

down over time and causes uncontrolled
movements, loss of intellectual faculties, and
emotional disturbance.
• Prevention: none, could do genetic counseling
before getting pregnant.
• Treatments: No cure exists, but drugs,
physical therapy, and talk therapy can help
manage some symptoms.
7. X-LINKED (SEX-LINKED)
Example: Color Blindness (H)
• Traits carried on the X chromosome which

makes females the carriers but the defect
shows up in the males.
COLOR BLINDNESS (H)
• Symptoms: 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.
• Treatment: none for inherited color blindness.
8. MULTI-FACTORIAL
INHERITANCE
Example: Cleft Lip/Palate (C), Cerebral
Palsy (C), Neural Tube Defects (C), Muscular
Dystrophy (H) (X-Linked too)
• Many factors are involved.

• Usually both genetic and environmental
CLEFT LIP/PALATE (C)
• Symptom: occurs when the roof of the

mouth does not completely close, leaving an
opening that can extend into the nasal
cavity.
• Often the cleft will also include the lip.
• Treatment: surgery
CEREBRAL PALSY (C)
• Brain malformed, injured at birth, or

damaged later in life
• Symptoms: affects brain’s ability to control
muscles
• Prevention: avoid exposures to infections or
viruses during pregnancy like German
Measles or Zika
• Treatment: treat the symptoms, physical
therapy
SPINA BIFIDA (C)
• Spina bifida is a birth defect that involves the
incomplete development of the spinal cord or its
coverings.
• Symptoms: causes physical and mental disabilities.
• 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. The condition can typically be detected
before a baby is born and treated right away.
• Prevention: increase of folic acid.
• Treatment: surgery to close the defect. Other treatments
focus on managing complications.
ROLE OF FOLIC ACID
• Helps in the prevention of neural tube defects

• It is recommended to take 400 micrograms of
folic acid daily from supplements or fortified
foods.
• Neural tube damage occurs during the first
weeks of pregnancy before a woman may realize
she is pregnant. This may be prevented if a
mother takes folic acid prior to conception.
MUSCULAR DYSTROPHY (H)
• Symptoms: weakens the muscles that help the

body move.
• 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.
• Prevention: none, may do genetic counseling
• Treatment: medications, physical therapy, and
surgery.
9. PRENATAL DAMAGE
Example: Fetal Alcohol Syndrome (E), STD/STI
related (E)
• Exposure to harmful agents during critical

prenatal development which causes
damage to the embryo or fetus before
birth.
FETAL ALCOHOL SYNDROME (E)
• Caused by alcohol consumption by the mom
during pregnancy.
• Symptoms:
• Intellectual disabilities
• Facial abnormalities
• Deformed limbs
• Prevention: avoid drinking alcohol during
pregnancy
• Treatment: none, no cure
STD/STI RELATED (E)
• Symptoms: Low birth rate,

conjunctivitis, infections,
death
• Prevention: safe sex, avoid
drug abuse
• Treatment: medications
before and after birth
(only with some), C-section

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BIRTH

Abdominal Birth Def

• Birth defect: a physical or biochemical

Hemophilia Color Blindness

Examples: Hemophilia (H) and Anemia (H)

• Hemophilia (heem-o-FILL-ee-ah) is a rare,

• Symptoms: Lack of red blood cells causing

Example: PKU (H) and Tay-Sachs (H)

• Result in metabolism problems (can’t break

• Phenylketonuria (PKU) is characterized by a

• A baby with Tay-Sachs disease is born without

• Occurs when the fertilized egg cell

• Down syndrome (DS) is a condition in which

• A condition that is present at birth.

• Symptoms: An inherited condition in which

• When both genes in a pair must be

• Sickle cell anemia occurs when a person inherits two

• Symptoms: affects respiratory and digestive

Example: Huntington’s Disease (H)

• Symptoms: nerve cells in the brain break

• Traits carried on the X chromosome which

• Many factors are involved.

• Symptom: occurs when the roof of the

• Brain malformed, injured at birth, or

• Helps in the prevention of neural tube defects

• Symptoms: weakens the muscles that help the

• Exposure to harmful agents during critical

• Symptoms: Low birth rate,

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