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Trisomy 18

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Transcript

  • 1. Trisomy 18 By: Marissa Picardi
  • 2. Causes
      • Trisomy 18 or Edwards Syndrome: genetic disease that is present in the study of pediatrics
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      • Three types of Trisomy 18: Full Trisomy 18, Partial Trisomy 18, and Mosiac Trisomy 18
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      •   occurs when an infant or fetus has a third copy of chromosome 18
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      • nondisjunction in cell division 
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      • A diagnosis of partial trisomy 18 is the only case where the disease could be inherited, otherwise the infant or fetus contracts the disease due to random occurences in the cell.
  • 3. Who gets this disease?
      • Its victims are children, due to the diagnosis of the disease will always occur after the time conception or after birth. 
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      • Trisomy 18 occurs in 1 in about 3,000 to 4,000 births.
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      • Girls are three times more likely than boys to be diagnosed with any type of trisomy 18.
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      • no racial predilection
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      • 95% of all cases die as embryos and fetuses. 
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      • Most of the infants who survive birth will not live past their first month of life. 
  • 4. Etiology of Trisomy 18
    • Symptoms:
      • clenched fists
      • low birth weight
      • kidney problems
      • congential heart disease
      • feet with a rounded bottom
      • mental deficiency
      • small head and jaw
      • underdeveloped fingernails
      • unusually shaped chest
      • hole, split, or cleft in the iris
    • Signs:
      • unusually large uterus
      • small placenta
      • extra amniotic fluid
      • small breast bone
      • abnormal fingerprint patterns
  • 5. Pathophysiology
      • Feeding Problems
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      • Kidney Problems
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      • Heart defects- congenital heart disease
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      • Lack of development in motor skills
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      • CNS damages-mental deficiencies
  • 6. Treatment & Prognosis
      • Trisomy 18 cannot be prevented before conception.
      • Close care of infant
      • nasogastric and gastrosomy supplementation for feeding
      • cardiac management
      •   corrective and palliative heart surgery
      • Treatment may not work- 50% of trisomy 18 cases will live past 1st week of life
      • other 50% will die before first month of life
  • 7. Works Cited
      • www.nlm.nih.gov
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      •   www.trisomy18.org
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      •   www.emedicine.medscape.com
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      •   www.symptoms101.com
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    •