Down Syndrome Research Paper

Down syndrome is the most common genetic condition in the United States. In 1866, a doctor, John Langdon Down, was the first to identify this syndrome, hence the name. Although, John Langdon Down identified this syndrome in 1886, the cause of it was not discovered until 1959. According to the National Down Syndrome Society, there are more than 350,000 people living with Down Syndrome in the United States.

The cause of this disorder is because of an extra chromosome in the body. About 90% of Down Syndrome cases are caused by this extra chromosome, chromosome 21 (this is why it is also called Trisomy 21). An extra chromosome originates in either the sperm or the egg. When the egg and the sperm unite to form the fertilized egg, two instead of three chromosomes in chromosome 21 are present. As the cells divide the extra chromosome is repeated in every cell.

If a woman is pregnant and wants to know if her baby will have Down Syndrome she can have 2 test to find out whether her baby will have Down Syndrome or not. The first test she can have is a screening test. A screening test does not give a definite answer whether the baby will have this disorder. The second test the mother can have is a diagnostic test. This test is done

Amniocentesis is a procedure that involves taking fluid from the uterus called amniotic fluid. Amniotic fluid acts as a cushion for the baby ( another form of protection for the baby ). The doctors do a ultrasound, to make sure that the needle that they are using doesn’t go into the baby, and takes some of the fluid out which has skin cells that shed from the baby. The doctors test the amniotic fluid and tell the mother if her baby has down syndrome or not. Chorionic villus sampling is when a small piece of tissue is taken from the baby afterbirth. Test are done on the sample of the tissue in a laboratory to look at the genetic makeup of the developing