Trisomy Awareness: What the Human Genetic Code
Can Lose In The Translation – http://Trisomy.org
Trisomy is the result of our chromosomal wiring getting crossed. Normally, human beings have 23 pairs of chromosomes, one from each parent. But if a third chromosome turns up as a fertilized human egg begins to form a baby, trisomy occurs – either full (affecting all the cells), mosaic (affecting some cells), or partial (when the third chromosome is a fragment).
The most well-known form of trisomy is the one caused by having an extra 21st chromosome: Trisomy 21 is another name for Down Syndrome. Trisomy 18 (Edwards Syndrome) makes children particularly vulnerable to respiratory and cardiac distress, while Trisomy 13 (Patau Syndrome) can produce hearing, optic, spinal and kidney defects. Trisomy 16 is considered the leading cause of spontaneous miscarriage.
The condition is usually found during amniocentesis — a screening of the fluid surrounding a fetus. The severity of most trisomies cause doctors to describe the diagnosis as “not being compatible with life,” with the suggestion that the pregnancy be terminated. But some parents decide to forge ahead.
Though most end up losing their children within the first few hours, days, months, or years, they do the work of being parents of “special needs” children — and thanks to the Internet age, they no longer have to do so in a social or educational vacuum. They maintain Web sites (proudly post videos of their children’s progress) and form support groups such as http://trisomy.org, http://rareChromo.org and http://chromoDisorder.org.