Trisomy 18

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Trisomy 18

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

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