Birth Defects/Genetic Disorders. What can go wrong?

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 knows someone that was born with a defect?

• Did 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– 20%

• Combination of heredity and environment – 60 %

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

9 months apart…

then triplets….

Environmental Factors

Viral disease and infections

Diet

Smoking

STD’sRadiation &Pollution

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 thefetus. 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 have improved over the years.

• 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 shots

• Diet 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 Error

• Child 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 for heart therapy.

• Special assistance.

Hemophilia

• Affects Males

• X-linked

What is it?

• The absence of clotting factor in blood.

• Causes crippling.

• Death from internal bleeding.

Treatment

• Blood transfusions

• Avoid 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 Anyone

• x 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 more boys than girls.

• 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 and kidney failure

• Less oxygen to other body parts

• Death in childhood

• Severe 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 can be affected.

• Infants 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 Nero-tube defect.