Trisomy Research Paper

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The term trisomy is defined as having 47 chromosomes resulting from each body cell containing an extra copy of one chromosome. The most common trisomy is 21, better known as Down syndrome. A less common trisomy is known as Edward’s syndrome. (McKinney, James, Murray, Nelson, & Ashwill, 2013). This extra chromosome negatively affects the developmental pattern and has the potential to be life-threatening, even before the baby is born (What is Trisomy 18?, 2015). Trisomy 18 is a condition that causes abnormalities to many parts of the body. It is impossible to tell what abnormalities the baby will have because it affects each individual baby differently. The range of abnormalities are heart defects such as ventricular septal defect and atrial …show more content…
Treatment is geared towards providing the patient with the best care possible in order to help the patient maintain a close to normal life as possible. As previously stated, the survival rate is very low, and for those who survive this syndrome past one year go on to live close to normal lives, but they will continue to be dependent on others and require around the clock care. The main focus in patients with Trisomy 18 is cardiac management. Most patients require medications for congestive heart failure such as diuretics and digoxin. Heart surgeries are also common in these patients. Feeding is another major issue with these patients. Most of the patients seen with Trisomy 18 experience difficulty with feeding. It is very common to see tube feedings in the neonatal period or placement of gastrostomy in older children. Because problems in other areas such as respiratory, hearing, and musculoskeletal can occur it is important to follow up with specialists for further treatment plans. After discharge the parents of the baby should continue to follow up with the pediatrician. It is extremely important for the parents to keep up with these appointments during the first few months of the baby’s life. Afterwards the frequency of follow up appointments is dependents on the conditions of the baby because Trisomy 18 can effect each baby
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