1:30 p.m.
I got a phone call from the nurse at my OB office, gulp, gulp..they said they would only call IF there was something of concern to discuss with me. She transfered me to my doctor, she told me the results were back on the baby, Trisomy 22. Which is a chromosome defect. (see description below.) My baby had absolutely no change of survival outside of my womb. She told me it is one of the most common reasons for a miscarriage in the first trimester. As much as I wanted my baby to be healthy it is a blessing the pregnancy ended when it did. If the baby had developed past the 2nd trimester then it would have caused complications for me and the baby and my attachment to my unborn child would have grown to be more than it was at 10 weeks.
I am still trying to absorb all of the information the doctor gave to me today. Since I spoke with her I have Googled and researched as much about Trisomy 22 as I could find. I am going to take it home so Mike and I can read through it and try to make sense out of all of this.
Because we know the diagnosis my doctor wants me to wait 2 cycles before we try to conceive again. She is going to refer me to another doctor in their office that handles high risk and genetic disorder pregnancies. He will be able to tell me our risk of this happening again, from what I have read online and from what our doctor told us it is very rare that it happens a second time.
Complete trisomy 22 occurs when an extra (third) copy of chromosome 22 is present in every cell of the body, where there should normally only be two copies. Cases of complete (or full) trisomy 22 are very rare. Most affected individuals with complete trisomy 22 die before or shortly after birth due to severe birth defects. Complete trisomy 22 is the second most common finding in miscarriages after trisomy 16. Survival beyond the first trimester of gestation is very rare. Early reports of trisomy 22 are thought to represent unbalanced translocation 11/22 or mosaicism, as full trisomy 22 is thought to be lethal in early stages. The syndrome causes severe malformations. Information found here.
Here are other links related to Trisomy 22:
http://www.humpath.com/trisomy-22
http://www.earlypregnancy.org/EPBM/EPBM%20V/Vol.%20V,%20Num%202/EPBM1308.htm
If anyone has any additional information about Trisomy 22 please let me know. I would like to learn as much about it as possible.
13 years ago
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