Amnio Results

So today I called the dr office about getting the results from our amnio. We had this done one month ago exactly. I have wanted to call the last few days, but by the time I remember it, it was 3pm here and then they were closed. So, today I called and got the machine so I left a message.

Anyway, so the genetics councilor called me back not even 20 minutes later.

And we have results.

Downs Syndrome

But its not a case of typical downs, that's why it wasn't found on the CVS test at 13 weeks. Instead of having an extra copy of chromosome 21, she only had some extra genes instead of an entire extra chromosome. The woman I talked with doesn't think this is something we are passing on though. She explained it this way. If we had this defect, we wouldn't be able to live with it. So that would mean we don't have the gene issue, so we aren't passing it on. The chance of this happening again is SO low. Mainly because it was a fluke when her cells were dividing in the beginning.

So its great to have an answer. We have to wait a few weeks still for the autopsy results but we are getting answers. We are really hoping that we get a good idea of all her issues inside because that is what was life threatening to her.

But for the most part, this just reconfirmed that she would not have been able to live had she been born full term.