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Trisomy 18 By: Marissa Picardi
Causes  Trisomy 18 or Edwards Syndrome: genetic disease that is present in the study of pediatrics   Three types of Trisomy 18: Full Trisomy 18, Partial Trisomy 18, and Mosiac Trisomy 18      occurs when an infant or fetus has a third copy of chromosome 18     nondisjunction in cell division     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.
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.    Trisomy 18 occurs in 1 in about 3,000 to 4,000 births.     Girls are three times more likely than boys to be diagnosed with any type of trisomy 18.   no racial predilection     95% of all cases die as embryos and fetuses.      Most of the infants who survive birth will not live past their first month of life. 
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
Pathophysiology Feeding Problems   Kidney Problems   Heart defects- congenital heart disease    Lack of development in motor skills   CNS damages-mental deficiencies
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
Works Cited www.nlm.nih.gov       www.trisomy18.org       www.emedicine.medscape.com       www.symptoms101.com    

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Trisomy 18

  • 1. Trisomy 18 By: Marissa Picardi
  • 2. Causes Trisomy 18 or Edwards Syndrome: genetic disease that is present in the study of pediatrics   Three types of Trisomy 18: Full Trisomy 18, Partial Trisomy 18, and Mosiac Trisomy 18     occurs when an infant or fetus has a third copy of chromosome 18     nondisjunction in cell division    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.    Trisomy 18 occurs in 1 in about 3,000 to 4,000 births.     Girls are three times more likely than boys to be diagnosed with any type of trisomy 18.   no racial predilection     95% of all cases die as embryos and fetuses.      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   Kidney Problems   Heart defects- congenital heart disease   Lack of development in motor skills   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       www.trisomy18.org       www.emedicine.medscape.com       www.symptoms101.com