Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of an extra copy of chromosome 18. It occurs due to errors in cell division called nondisjunction. Trisomy 18 can be full, partial, or mosaic and symptoms include low birth weight, clenched fists, heart defects, and developmental delays. The condition is fatal in 95% of cases prenatally or within the first month of life, though treatment focuses on feeding, cardiac, and kidney issues. Trisomy 18 affects approximately 1 in 3,000 to 4,000 live births.

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