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Down Syndrome in Children Essay

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Down Syndrome in Children

Down syndrome is one of the most common and easily recognized genetic disorders. It is caused by abnormal cell division that involves the 21st chromosome pair of the 23 pairs of chromosome found in all normal human cells. There are three types of these abnormalities, which are non-disjunction, translocation, and mosaicism. Ninety five percent of children born with Down syndrome are a non-disjunction type which is three rather than two chromosome 21s. About three to four percent of cases are because of translocation which is chromosome 21 detaches and attaches to another chromosome. Mosaicism accounts for only one to two percent of births, which is an abnormal cell division with the normal 46 chromosomes …show more content…

Its very important to know that some screening test may slightly increase the chance of a miscarriage. Tests in utero for identifying Down syndrome include amniocentesis, which is a needle inserted into the uterus and a sample of the amniotic fluid surrounding the fetus is taken out. Usually used within 14-16 week of pregnancy. This test is 99% accurate, but carries a 0.5 percent chance of miscarriage. Chorionic villus sampling (C.V.S.) is used by taking cells from the placenta through the mother's abdominal wall or cervix. Performed between tenth and twelfth week of pregnancy, this test is 98 percent accurate and carries a risk of limb deformities and a one to two percent chance of a miscarriage. Karyotyping can be used through the process in which a picture of chromosomal patterns is prepared (Genetic Disorders.p5). An ultrasound can identify any traits a fetus has such as shortened thighbones or gastrointestinal blockage that can be associated with Down syndrome, but not as accurate to be used as a substitute for C.V.S. or amniocentesis in detecting Down syndrome.
Before the 1970's Down syndrome wasn't diagnosed until birth or even later, but due to such early diagnosing and screening this has posed a major dilemma for families and physicians. It allows parents to decide whether or not the pregnancy should be terminated (exceptional child book p176).
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