DSARCW - What is Down Syndrome

What is Down Syndrome?


In 1866, John Langdon Down, an English physician, first published an accurate description of a person with Down syndrome. He became known as the "father" of Down syndrome. In 1959, Jerome Lejeune, a French physician, identified Down syndrome as a chromosomal anomaly. Instead of 46 chromosomes present in each cell, he found 47. The extra is found on the 21st chromosome, known as Trisomy 21. A simple error in cell division is responsible for 95% of  the Down syndrome births. The result is an embryo with 3 copies of the 21st chromosome instead of the usual 2. Prior to or at conception a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. People with Down syndrome have some degree of mental retardation usually in the mild to moderate range. Although Down syndrome has been thought to only affect women of a higher maternal age, 80% of babies born with Down syndrome are born to women under 35. This is due to the fact that younger women have higher fertility rates.

On January 23, 2007, the National Down Syndrome Congress issued this press release regarding the ACOG screening recommendations Click here for the response from the NDSC. This is such an important topic in our community! The NDSC has decided to start up a Task Force to combat the effects of the ACOG's recommendations. If anyone is interested in being more involved, please contact me Lindsey@DSARCW.org or contact the NDSC.

On Sunday, January 14, 2007, The Washington Post printed an article regarding the new recommendations from the American College of Obsetrics and Gynecologists wanting all preganat women to receive prenatal testing for Down Syndrome regardless of maternal age. This is a scary thought because the new test can be performed as ealy as 11 weeks. With testing that can take place before some women even announce their pregnancies, we are sure to see a dramatic rise in terminated pregancies. We now need more than ever to make the whole world see what amazing and productive members of society our children are growing up to be. click here for the article and click here for the prenatal test


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