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Birth Defects

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Birth Defect Video

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Types and Causes of Birth Defects

  • Factors in the Environment
  • Hereditary Factors
  • Errors in Chromosomes
  • A combination of environmental and hereditary factors

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Environmental Causes

  • The nutritional balance of the mother’s diet
  • Any infections the mother contracts during pregnancy
  • Harmful substances the mother consumes
  • Medications the mother takes
  • Air pollution
  • Exposure to X-Rays and High Levels of Radiation
  • Chemicals (solvents and pesticides)

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Hereditary Causes

  • Could be caused by:
    • Recessive Inheritance: Both parents have to pass along the same faulty gene
    • Dominant Inheritance: Only one parent has to pass along the faulty gene

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Errors in Chromosomes

  • Receiving too many or not enough of a certain chromosome
  • Example: With Down Syndrome, a person inherits an extra chromosome 21

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Interaction of Heredity and Environment

  • The baby has a higher chance of developing a birth defect, and then the environment causes the baby to form it or not
  • Examples: cleft palate, cleft lip, Spina bifida

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Cerebral Palsy

  • A variety of problems to the motor system. Symptoms include lack of coordination, stiffness, difficulty with speech, and paralysis.
  • Cause: Damage to the brain before, during, or shortly after birth.
  • Treatments: Irreversible, but physical therapy, speech therapy, surgery, and medications can lessen the effects.

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Cleft Lip and Cleft Palate

  • A gap in the upper lip of palate (the roof of the mouth) that causes problems with eating, swallowing, speech, and appearance.
  • Causes: Environment, heredity, or both
  • Treatment: Corrective surgery to fix the gap

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Cystic Fibrosis

  • Affects respiratory and digestive systems. Many with CF die before adulthood. Lungs fill with fluid.
  • Cause: Inheriting defective recessive genes from both parents. Most often found in Caucasians.
  • Detection: Blood test and sweat test can be performed.
  • Treatments: No known cure. Special diets, lung exercises, and medication can help treat symptoms.

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Down Syndrome

  • A groups of problems that may include mental disabilities; heart, blood, and digestive system difficulties; and poor muscle tone.
  • Cause: Presence of an extra chromosome 21.
  • Detection: Amniocentesis or chorionic villi sampling, or blood test after birth.
  • Treatments: No cure. Therapy can help the symptoms.

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Muscular Dystrophy

  • Many different types; all involve a progressive weakness and shrinking of the muscles. Most common form begins between the ages of two and six.
  • Cause: Most are hereditary. Most common transmitted from female carriers, but only affects males.
  • Treatments: No known cure. Physical therapy can help.

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PKU (Phenylketonuria)

  • Condition in which the body is unable to process and use a specific protein present in nearly all foods. Brain damage and mental disabilities can result.
  • Causes: Defective recessive genes inherited from both parents.
  • Detections: All newborns tested for PKU (by law).
  • Treatments: No known cure. A special diet can reduce or prevent brain damage.

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Sickle Cell Anemia

  • Malformed red blood cells interfere with the supply of oxygen to al parts of the body. Symptoms include tiredness, lack of appetite, and pain. Can lead to early death.
  • Causes: Defective recessive gene inherited by both parents. Most common in those with African decent.
  • Detections: Amniocentesis and chorionic villi sampling. Blood test after birth. Genetic counseling before pregnancy.
  • Treatments: No known cure. Medications can help.

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Spina Bifida and Hydrocephalus

  • An incompletely formed spinal cord may lead to stiff joints, partial paralysis, and problems with the kidneys and urinary tract. Seventy of every 100 children with this also have hydrocephalus, in which an excess of fluid surrounds the brain.
  • Causes: Combination of environmental and heredity. TAKE FOLIC ACID DURING PREGNANCY!
  • Treatments: Shunts, corrective surgery, and physical therapy.

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Tay-Sachs Disease

  • Cause by the lack of a specific chemical in the baby’s blood. The body cannot process and use certain fats. This leads to severe brain damage and death, usually by age four.
  • Causes: Defective recessive genes from both parents. Most common in families of eastern European Jewish decent.
  • Detection: Amniocentesis or chorionic villi sampling. Blood test can identify carriers and detect it after birth.
  • Treatments: No known cure. Treatment involves making the child comfortable.