An Insigth To Down Syndrome Essay

1556 words - 7 pages

Down syndrome; what is it and how does it affect the people who have it? Roughly 1 in 800 infants born in Canada are affected by Down syndrome. Down syndrome, also called Trisomy 21, is a chromosomal disorder that is caused by an extra genetic material in the individual. It delays the way an individual develops both mentally and physically. Down syndrome cannot be prevented but it can be detected before birth.
At the time of conception an infant inherits genes from its parents in the form of 46 chromosomes. Each parent gives the infant 23 chromosomes. If an infant happens to receive an extra chromosome they will have 47 chromosomes as opposed to 46. Having this extra copy of the twenty-first chromosome is the cause of Down syndrome. There is no known way to stop an infant from being born with Down syndrome as of right now. It has been scientifically proven that women over 35 have a higher risk of giving birth to an infant with Down syndrome. For example, a woman has a 1 in 1000 chance of conceiving an infant with Down syndrome when in her thirties. Those odds drastically increase to almost 1 in 400 by the age of 35 and even up to 1 in 100 by the age of 40. (Gavin, 2012)
There are a handful of ways for healthcare providers to diagnose for Down syndrome. This can be done either during pregnancy or shortly after birth. There are two options for prenatal diagnosis and one option for after the infant is born. Prenatal screening consists of a blood test and an ultrasound test during the first and second trimester of pregnancy. Prenatal diagnostic is a bit more complicated. This testing involves removing a sample of genetic material and having it tested for extra chromosome 21 material. There are three procedures used to extract material in the diagnostic testing for Down syndrome; Amniocentesis, Chorionic Villus, and Percutaneous. The first option for testing is Chorionic Villus where a sample of cells from a part of the placenta get taken and tested for the extra chromosome. This test can be done between the 9th and 11th week of pregnancy. When the Amniocentesis test gets done a healthcare provider will take a sample of amniotic fluid and have it tested for the extra chromosome. This test cannot be done until the 14th to 18th week of pregnancy. Lastly, there is Percutaneous umbilical blood sampling also know as PUBS. This method is when a healthcare provider takes a sample of fetal blood in the umbilical chord through the uterus and has it tested for the extra chromosome. This is the most accurate diagnostic method and it can also be used to confirm the results from the other tests previously mentioned. Percutaneous testing cannot be done until the 18th to 22nd week of pregnancy. (How do health care providers diagnose Down syndrome?, (n.d.).) There is another way of testing for Down syndrome which happens right after birth. This testing is usually made on visual observations of the individuals physical appearance. The healthcare provider will look for...

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