Trisomy 18: A Case Study Of Edward's Syndrome

Trisomy 18 also known as Edward’s syndrome, is the second most common aneuploidy in comparison to Down Syndrome or Trisomy 21. Edward’s syndrome is a chromosomal condition prompted by an error in cell division. This prognosis is very rare and as a result there are fewer than 20,000 cases per year in the United States. Due to several life-threatening medical problems in correspondence to this demoralizing condition, many individuals with Edward’s syndrome die before birth or within their first month. Study shows that about thirty percent of babies with this condition die in the first month. Fewer than ten percent of children with this malady survive past their first year. Unfortunately, the few children who do survive, often suffer from severe
Regardless of whether the diagnosis is made prenatally or postnatally which is after birth, the process is still the same. The process in which Edward’s syndrome is detected is when a sample of the baby’s DNA is extracted from a blood sample. The baby’s DNA may also be extracted from other bodily cells or tissue. The DNA extracted is then cultured to examine a picture of the chromosomes called a karyotype. A karyotype is a picture of a person’s chromosomes. In order to get this picture, the chromosomes are isolated, stained, and examined under the microscope. Most often, this process is done using the chromosomes in the white blood cells. A picture of the chromosomes is taken through the microscope. The visibility of an extra eighteenth chromosome confirms a Trisomy 18
Unlike the AFP test, a simple ultrasound cannot be used to establish the diagnosis of trisomy 18. A more detailed ultrasound may be performed to look for the characteristic signs of trisomy 18, but it cannot confirm alone that trisomy 18 is present. In addition to the ultrasound, analysis of fetal chromosomal material obtained during amniocentesis or chorionic villus sampling is necessary to prove that the additional copy of chromosome 18 is present.
An amniocentesis is usually performed at 15-18 weeks of pregnancy and is the most commonly used test for the prenatal diagnosis of trisomy 18. During this procedure, a thin needle is inserted through the abdominal wall and a small sample of amniotic fluid is taken. Moreover, Chorionic villus sampling is performed earlier in pregnancy at 10-12 weeks after the last menstrual period. This procedure involves the collection a chorionic villus cell sample from the placenta either through the insertion of a needle in the abdominal wall or through a catheter in the vagina.
Although there is no cure for Edward’s syndrome, treatment of children with this condition may vary and is planned on a case-by-case basis. Such treatments are used depending on the individual’s condition. Treatment for trisomy 18 consists of supportive medical care to provide the child with the best quality of life