View Woman had the opportunity to participate in the Annual Buddy Walk for Down Syndrome along with the Browning Learning Academy (www.blainc.org). I admitted that I did not know much about the chromosomal condition. They provided literature about the condition and I wanted to make to provide our readers with some of this information. Knowledge is power and if we have useful information we want to make sure we all have that information. After all, women empower one another, right?
What is Down Syndrome?
Down syndrome is a chromosomal condition that one in 691 babies in the US are born with. It is a condition that is not reserved for any specific race, gender or economic levels. Common physical traits are of Down syndrome are low muscle tone, small stature and upward slant to the eyes. People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory & hearing problems, Alzheimer’s disease, childhood leukemia & thyroid conditions. That sounds hopeless to read a list of increased conditions but many of these conditions are now treatable. As a result most people with Down syndrome lead healthy lives.
People with Down syndrome experience cognitive delays, but the effect is typically mild to moderate. Children learn to walk, sit, play and talk although later than other children without Down syndrome.
What Causes Down Syndrome?
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother. Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:
Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the child has three copies of chromosome 21 (instead of the usual two copies) in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
Mosaic Down syndrome. In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
Translocation Down syndrome. Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome.
How is Down Syndrome Diagnosed?
Down syndrome is usually identified at birth by physical traits. Some babies may have Down syndrome features but not have Down syndrome so additional testing can be done. One test is called the karyotype chromosomal analysis. This test can be done by drawing blood and photograph the chromosomes within the cells. They group the them by size, number, and shape. Down syndrome is diagnosed by examining the karyotype and identifying an additional full or partial copy of chromosome 21. A similar genetic test called fluorescence in situ hybridization (FISH) can also confirm a diagnosis.
Testing can also be performed before a baby is born through screening and diagnostic test. Screening test involve a blood test and ultrasound. Diagnostic testing is recommended if prenatal screening shows a high chance of the child being born with Down syndrome for a definitive diagnosis. Diagnostic test for Down syndrome are chorionic villus sampling (CVS) and amniocentesis. CVS is usually performed in the first trimester between 9 and 11 weeks, and amniocentesis is usually performed in the second trimester after 15 weeks gestation.
Source: national down syndrome society
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