A Scary Twist...

Monday, October 25, 2010

So normally during the week I think about all these different topics that I should be blogging about, like how Baby #2 is 18 Weeks old now and a bell pepper, about how I often times feel like I have lost my identity (still more to come on that one), how good Emma is doing with talking and tumblebees and how many questions are going through our minds about Baby #2, etc. Today, all of that stuff went right out the window with a scary twist from our ultrasound.

Remember this post From 0 to Panic In 3 Seconds Flat... from when we went in for a sonogram with Emma? Well, Baby #2 decided to throw us the same curve ball, but a little worse.

Wes and I were on pins and needles today heading into our sonogram appointment as this was the BIG one. Although we were going to find out if Baby #2 was a girl or boy, we were doing it a little bit different. We had the ultrasound technician write it on a piece of paper and seal it in an envelope and we weren't going to open it until going to dinner tonight with Emma and my parents. I pretty much can't keep anything baby related from my mom for more than 30 seconds so although I had all these grand ideas of how I was going to tell her that we were expecting, it always came out immediately because I just couldn't wait. So this was a fun way we thought they could join in on the surprise. After the sonogram and waiting for a while in the waiting room, the technician popped her head out to let us know that "the genetic counselor would be right with us and wanted to talk about the sonogram results". Here we go again...from 0 to panic in 3 seconds flat.

I knew immediately that we were going to be told something that we didn't like the minute we sat down with the counselor. She was nervous, which made me nervous. The technician found a Choroid Plexus Cyst (CPC) in Baby #2's brain. You are probably thinking about how bad that sounds, which is exactly what we were thinking too. The short version is that the cyst itself is not harmful what-so-ever. It's nothing that has any effect on fetal development, but the scary part is that it is one of the markers that indicates a higher risk of Down Syndrome and Trisomy 13 and 18 chromosome abnormalities. The good news is that it was an isolated CPC (meaning that there were no other markers) so there is a high chance that it will go away on its own before the baby is born. But I am pretty sure that you can't mention the words Down Syndrome or Trisomy 13 and 18 to any expecting mother and have them not panic.

Basically, the CPC is a pocket of fluid that has developed in Baby #2's brain that is responsible for producing the cerebrospinal fluid. Choroid plexus cysts are seen during 1% to 3% of all mid-trimester prenatal ultrasound examinations. The good thing is that the results from my first trimester screening that specifically looks for markers of chromosome abnormalities (like Downs Syndrome and Trisomy 13/18) were normal and that my blood results didn't have any additional indications. So after that test, our chances of Baby #2 being born with Downs Syndrome were about 1 in 2,000, and the chances of Trisomy 13/18 were about 1 in 5,000. Because of the CPC, our chances are now still good, but about 50% greater, so we are now sitting at about a 1 in 1,000 chance of either. Again, those are still really good odds, but as a mom, you never EVER want to go that way on the scale.

If we wanted to, we could opt for an amniocentesis which is really one of the few actual tests for chromosome abnormalities. All of the other tests are more looking at markers to either increase or decrease the chances of the baby being born with a chromosome abnormality. However, the amniocentesis comes with its own risks. The genetic counselor said that there is a 1 in 200 risk of miscarriage from the amniocentesis, so given that we are still around a 1 in 1,000 chance for Downs or Trisomy 13/18, we don't think its worth the risk at this point.

We are scheduled for a follow up sonogram in 4 weeks to keep an eye on the CPC and we will go from there. They also detected that I have a heart arrhythmia during the sonogram as well. That was news to me! I have a call into my doctor to get scheduled for an EKG to check things out with that as well.

So, all in all, a very emotional day! Wes and I are focusing on the good news though. Baby #2 weighs about a half of a pound and was measuring right on track. There are no other markers for any chromosome abnormality other than this CPC, and so the highest possibility is that it means nothing and will go away on its own. And...we get to open our envelope in about an hour so stay tuned to find out if Emma is going to have a baby sister or baby brother!!!

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