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Down Syndrome

Essay by   •  December 4, 2011  •  Essay  •  1,254 Words (6 Pages)  •  1,979 Views

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Down syndrome Research Paper/Creative Project

Every minute of each day a new child is born; some are born with disorders and others are not. "Recent figures from the Centers for Disease Control (CDC) place the frequency of Down syndrome in the United States at about 1 in 733 births" (Kozma, 2008, p.3). Each child that is born is special in his or her own unique way. This paper will cover the ins and outs of Down syndrome.

What is Down syndrome?

Down syndrome is a genetic condition in which an extra chromosome in some or all cells is present. It is common in pregnancies of older women. "Instead of having two copies of the twenty-first chromosome your baby has three. As a result, he has a total of 47 chromosomes in his cells instead of the usual 46" (Kozma, 2008, p.2.). With the baby having the extra chromosome it causes the baby to have Down syndrome. There are test that can be done to determine whether or not a fetus will have Down syndrome or not. "The most widely used screen test is the AFP. Between 15 and 20 of pregnancy, a small blood sample is taken from the mother and examined. The levels of AFP and three hormones called unconjugated estriol, human chorionic gonadotropin, and inhibin-A are measured in the blood sample" (Down syndrome, 2011). Even though the AFP test can help suspect Down syndrome within the fetus it does not confirm the diagnosis. With all of the test there is a slight risk of miscarriage. "Amniocentesis is preformed between 16and 20 weeks of pregnancy. During this procedure, a thin needle is inserted though the abdominal wall and a small sample of amniotic fluid is taken (Down syndrome, 2011) . With the Amniocentesis procedure once the sample is gathered it is then analyzed for chromosome anomalies. CVS also known as Chorionic villus sampling "is done between 11 and 12 weeks of pregnancy. It involves the collection of chorionic villus cell sample from the placenta either through insertion of a needle in the abdominal wall or through a catheter in the vagina (Down syndrome, 2011). The one test that detects about eighty percent of Down syndrome is nuchal translucency test which "measures the thickness of the fold in the neck via ultrasound (Down syndrome, 2011). With the combination of the mother's age Down syndrome can be detected in the fetus. The nuchal translucency method can be done as early as eleven to thirteen weeks. Once the sample is taken is analyzed for deviations. There is nothing that a parent can do once they find out their fetus has Down syndrome. The only thing they can do is learning about it so that they know how to help their child.

Side effects of Down syndrome

Before we had the technology that we have today doctors would identify a newborn with Down syndrome by the physical characteristics it has. Infants born with Down syndrome have low muscle tone and poor reflexes. Someone with Down syndrome is very noticeable due to the physical characteristic of the disorder.

"Facial shape is round in newborn and during infancy. As the child ages, his or her facial shape becomes more oval. Due to, underdevelopment, the middle of the face appears flat. The nose is smaller than normal...The palpebral fissure, or openings of the eyes are smaller than normal and slant upward ...The ears of individuals with down syndrome tend to be small, and they may be slightly lower on the head then usual...Individuals with Down syndrome tend to be shorter and stockier than individuals in the general population. The hands may be wide and short, with fingers that are shorter than normal. The fifth finger may curve inward and have one crease instead of two" (Martin, 2009,p. 14-16).

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