Neither of us were found to carry the same mutation. This means that most likely it was a new mutation that happened sporadically in the last pregnancy. Therefore, the hospital does not expect the same complications again.
However, they would say the risk for CHARGE again is about 1-2%. The reason for this is sometimes egg cells or sperm cells carry mutations that are not present in the blood cells. This is called germline mosaicism. They would recommend genetic counseling in a future pregnancy to discuss our options. They absolutely recommend ultrasound monitoring and we could consider amniocentesis or CVS again if we wanted to do additional testing for the 1-2% chance.
Now we are just waiting on the genetic screening on my husband. The lab received the sample today, so it'll be 3-4 weeks before we have these results.
Being negative for CHARGE should be a relief. It isn't. It's just another proof of my "bad luck". It's a difficult position. Today I was down to my knees and thankful we're both negative for CHARGE. But some days I wish something comes back positive for either of us so we can fix it... Getting pregnant only to find out that my bad luck continues is something I wouldn't want to go through again.
I know it isn't a relief that you aren't carriers for CHARGE, but at least the risk for having another baby with CHARGE is small. I know it doesn't matter - if you're like me, once it's happened once you are convinced it could happen again no matter how small the risk. I don't think anything will ever make you feel 100% safe in another pregnancy. But at least they could offer ultrasound monitoring so that you can check in often and hopefully if there are any problems catch them early.
ReplyDeleteI know none of this helps. But I am thinking of you and hoping that your husband's tests results come back showing he does not carry the same mutation you do. And I hope they don't take 3-4 weeks!!! Here's to quick results with good news.