Down syndrome
Down syndrome is a genetic disorder that may alter the development of individuals. Each person that is diagnosed with Down syndrome is unique in their own way. Some may develop some of the most common characteristics associated with this disorder. According Sietske N. Heyn, PhD, some of the most common characteristics would include mild to moderate learning disabilities, distinctive facial features, and low muscle tone. However, not every person who is diagnosed with Down syndrome develops these characteristics, and even if they do, the degree in which they do can be different in every individual because they are each unique. Individuals usually develop this disorder in early infancy.
In every human body, there are many cells …show more content…
There are two different tests that can be performed on the mother, the screening test and diagnostic tests. The screening test only provides a probability if the fetus will be have this disorder. Many of the screening test involve s blood test and an ultrasound. The blood tests are able to measure the numerous substances that are in the mother’s blood. The doctors are able to discover any “markers” that may be associated with down syndrome. Although these tests are not 100% accurate, they do provide a high accuracy rate. The diagnostic test provides almost 100% accuracy when diagnosing a fetus with Down syndrome. This procedure involves chronic villus sampling (CVS, performed in the first trimester) and amniocentesis (performed in the second trimester). Although this procedure has a one percent risk of causing a miscarriage, there is a close to 100% chance of accurately diagnosing Down syndrome. If not diagnosed prenatally, once a baby is born, Down syndrome can easily be detected by certain physical traits. These physical traits would include low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. However, just to be sure that the bay does in fact have Down syndrome, karyotype (a chromosomal analysis) is performed. Karyotype is when doctors draw a blood sample to examine the baby’s cells. Once this is done they then photograph the
Down syndrome is a genetic disorder that may alter the development of individuals. Each person that is diagnosed with Down syndrome is unique in their own way. Some may develop some of the most common characteristics associated with this disorder. According Sietske N. Heyn, PhD, some of the most common characteristics would include mild to moderate learning disabilities, distinctive facial features, and low muscle tone. However, not every person who is diagnosed with Down syndrome develops these characteristics, and even if they do, the degree in which they do can be different in every individual because they are each unique. Individuals usually develop this disorder in early infancy.
In every human body, there are many cells …show more content…
There are two different tests that can be performed on the mother, the screening test and diagnostic tests. The screening test only provides a probability if the fetus will be have this disorder. Many of the screening test involve s blood test and an ultrasound. The blood tests are able to measure the numerous substances that are in the mother’s blood. The doctors are able to discover any “markers” that may be associated with down syndrome. Although these tests are not 100% accurate, they do provide a high accuracy rate. The diagnostic test provides almost 100% accuracy when diagnosing a fetus with Down syndrome. This procedure involves chronic villus sampling (CVS, performed in the first trimester) and amniocentesis (performed in the second trimester). Although this procedure has a one percent risk of causing a miscarriage, there is a close to 100% chance of accurately diagnosing Down syndrome. If not diagnosed prenatally, once a baby is born, Down syndrome can easily be detected by certain physical traits. These physical traits would include low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. However, just to be sure that the bay does in fact have Down syndrome, karyotype (a chromosomal analysis) is performed. Karyotype is when doctors draw a blood sample to examine the baby’s cells. Once this is done they then photograph the