Carrier? No Carrier?

So, I got a call from the genetic counselor yesterday asking if DH and I still wanted to come in to talk with her about my SMA results. She had received my results and saw that I was actually not a carrier of the SMN1 gene. My nurse told me that my results indicated that I had one copy of the SMN1 gene, which was linked to a "reduced carrier risk." However, the counselor told me that I actually had two copies of the SMN1 gene; she just couldn't definitely say if the copies were on the same chromosome or on different ones. I suppose that's why they aren't able to rule out definitely that I am a carrier; but considering that no one else in my family of which I'm aware has SMA, chances are good that I am not a carrier. Therefore, DH does not have to go in and have the test done. If it turns out that he is not a carrier, there is a 1 in 180,000 chance that we will have a baby with SMA. Even if he is a carrier, there is a 1 in 2,000 chance that we could have a baby with SMA. I asked the counselor if she thought it would be a good idea for us to get the CVS testing after I did get pregnant to see if our baby was affected by SMA. She said that it wasn't necessary because chances were higher for us to receive a false positive result than they are that we will have a baby with SMA. So, that was some good news for once!

If anyone is interested in learning more about SMA, the counselor referred me to a helpful link:

http://www.clairealtmanheinefoundation.org/