Monday, May 28, 2012

Cross Contamination Results are now in....

The hospital said it would take up to four weeks to get the cross contamination results in but we got them in about 10 days.  This past Friday the geneticist office called with the results.... no cross contamination!!!  No cross contamination was the best case scenario at this point so this was great news.  No cross contamination means that the extra chromosome 17 material is not in every cell of her body but rather it is truly a mosaicism.  We still don't know exactly how our baby will be effected but we know that only part of her will be effected by the extra chromosome 17.  They estimate that 30-50% of her cells will have the extra chromosome 17 material but another sample could yield another percentage.  So at this time it is a guessing game of how she will be effected and whether it will be mild to severe.  **My second post "Why we are believing.." explains the mosaicism and cross contamination even better.**

I think it is safe to say that her heart has been effected but no one knows what else will be effected.  The 30% could be her heart alone, her heart and other organs, her heart and muscle tone, her heart and cognitive ability, etc.  There is truly no way to know in what combination this extra chromosome will effect her.  So now we wait for the next ultrasound and pray that everything else still looks good.  Beyond ultrasounds we will wait for her to be born to see how this will effect her.  We will not know cognitive development until later but other characteristics could present itself earlier (i.e., facial features, cleft palate, muscle tone, problems with other organs, asymmetry of the body, etc) or hopefully those things will never present itself.  :)

The problem in the future is not knowing whether the chromosome 17 causes something a certain outcome or if it is from the heart condition/ surgeries (i.e., being physically restricted from moving for a time period, using machines to keep her alive like an ecmo, etc).  So if she is showing developmental delay (i.e., not rolling over at the same time as other kids, having trouble with feeding, weaker muscles, even cognitive development, etc), is that from the heart and surgeries, the extra chromosome 17 material, or both?  She may just remain a mystery for a long time... as long as she survives and has a good quality of life, she can remain our little mystery.  :)  Thanks for reading!          

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