Renee, this is Ryan your Genetic Specialist from Riverside. The amnio tests results are back and just like we had thought, your son has Trisomy 21.... Down syndrome..........................................................
Down Syndrome (DS) is also known as Trisomy 21. A typical person has 46 chromosomes, 23 pairs. One set comes from Mom, one set from Dad. A person with DS has an extra chromosome making 47 chromosomes. There are 3 copies of the 21st chromosome instead of the typical 2 copies. I like to think of the extra copy as a gift from God. There is no explanation as why this has happen, nothing we have done. Statistically I had a 1:850-1000 chance of conceiving a baby with DS. So truly I believe Ethan is a gift from God.
We will be preparred to care for this baby just as we did with Eli. I understand there will be many more chanllenges, but raising a typlical child there are challenges. Our goal is to raise both of our boys to their fullest potential and live a happy life.
Here are a couple websites that I have found helpful for additional information.
http://www.cincinnatichildrens.org/health/d/down/
http://downsyndromepregnancy.org/
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