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Detecting Down Syndrome: Extremely Precise DNA Test

So, what is Down Syndrome? Let me explain- Our genetic make-up consist of 46 pairs of chromosomes. An individual with Down syndrome will have an extra or partial copy of chromosome 21 (NDSS, 2015.) This then alters the course of their development, which results in the particular characteristics found in a Down syndrome child.

Down syndrome is the most common genetic chromosomal disorder. 1 in 691 babies in the United States are born with Down syndrome. About 6,000 babies are born with Down syndrome per year (NDSS, 2015.) These statistics indicate that Downs syndrome is the most common genetic chromosomal disorder. This is why researchers are working very hard to detect it early on. Of course, we already have a standard screening in place but can we find a fool proof test?

The Standard screening takes a look at the protein markers in the blood of the mother which can hint the presence of a chromosome disorder. Not only does this test allow for us to look for Down syndrome but also for other defects which are associated with other disabilities. Recently, researchers from University of California San Francisco found a more enhanced procedure to test for Down syndrome. This test directly looks at the DNA. From the 16,000 cases in the study, the DNA test accurately found 30 cases of Down Syndrome while the standard test found 854 false positives.

For additional information about Down syndrome and to learn more about the new procedure please take a look at the links below!

Also, any questions or comments please email!

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