Friday, January 22, 2010

Trisomy 18

On January 19th I went into the dr for a routine checkup. After listening to the baby's glorious heartbeat I was sat down to talk with my doctor. During my first trimester screening I was flagged as high risk for a chromosomal abnormaility called Trisomy 18. From my previous experience with my wonderful friend Dawn and being a part of the medical field for some time, I knew this was bad news. I was explained to that anything 1 in 100 would be flagged for risk. My results came back 1 in 70. My heart was aching at the thought of something being wrong with my baby and in that heart I knew something was indeed wrong. we were still hopeful that I was not that 1 in 70 and that I was the other 69.

With Trisomy 18 the quality of life is not optimal. In most cases the baby left to go to term would be born stillborn or would live for a matter of minutes or hours. In some cases, where the defect was not full and only partial, the baby could live for months, possibly even years. But with this would be no vitality. A vegetative state. Limited motor function. Limited brain activity. There was no slight mental retardation as with Down Syndrome (Trisomy 21). My baby would not be a baby but merely a shell of partialy functioning organs. Could I live with that?

My appointment with the specialist was bumped up for next week. A level II ultrasound would be done to check for markers and possibly an amnio to determine exactly if the defect was present. I went home. I cried. And I started to accept the probable end of this pregnancy.

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