Tuesday, September 25, 2012

Well, then...

It's always got to be something, right?

Well, we got some unexpected news today regarding the blood test part of our first trimester screening. Based on the blood work, there is an elevated risk of Down syndrome. This is not a diagnostic test, so it does not mean Baby O has Down syndrome, but the risk is much higher than one would expect, especially after the u/s findings. The fax was a little unclear (it baffles me that doctors still use the fax... haha), but the overall risk is either 1 in 61 or 1 in 81 based on the combined screening.  The "odds" don't really matter, but we will obviously get clarification on which.

So, we have an appointment with a genetic counselor on Thursday morning. If you could just say a prayer for our peace until then and in our decision making process as far as what additional screenings or diagnostics to do next, we would appreciate it. We will love our baby so much whether or not s(he) has an extra chromosome, but obviously, we pray that s(he) has the correct number.  The good news is that we were very low risk for Trisomy 13 and Trisomy 18.  Praise Jesus for that.

Also, if anyone has any experience with this or words of advice, I'd appreciate it.  I am arming myself with information so I can ask the "right" questions so we can make decisions going forward.  I know that in many (probably most) cases, everything turns out fine.  And, if not, then that's fine too as long as we have a healthy baby.

6 comments:

Erica said...

Well I am praying for you and your hubby n baby! I can tell you that with my 2nd......our 13 wk scan was fine ....but then after our 20 week anatomy scan then called us back to see a specialist saying our son had elevated risk for DS and had something like 5 of the DS markers. I saw the specialist at 25 weeks and they saw the same things.....but I opted not to have CVS or amniotic testing because it wouldnt change anything anyway..ya know....he was my baby no matter what. And today he is a happy healthy 2.5 year old with no signs of DS ........if he had been born with DS.......it wouldnt matter because I loved him from the time i saw those lines. God will work everything out the way it's supposed to be for you and your baby :)

ty said...

I'm thinking EXTRA happy thoughts for you. You get happy thoughts anyway because of that sweet little baby :)

I know it must be hard to hear that, and I wish so badly I had some sort of experience in the matter so that I could tell you something good. But I don't.

All I can say is that one way or the other, I think you're going to be an amazing mama. Only the very best of mamas can handle that extra chromosome, you know. So God must have thought you were pretty awesome to consider giving it to you :)

The Granberrys said...

Praying for your sweet baby! Praying that you & your husband will feel nothing but comfort & peace that surpasses understanding as you move forward with whatever God has in store for your family! He has a perfect plan for all 3 of you.

Mel said...

Just wanted to pass along another blog I follow....They went through IVF and had similar story to yours. Their cute boy has DS, but is very loved as it looks like from the blog.

http://barryandashley.wordpress.com

Lisa said...

My 18 yo cousin had a baby girl earlier this summer with DS. It was not a planned pregnancy, and given her age they didn't even consider any testing - so ya just never know. All I can say is that either way, this early knowledge can help you prepare for it as soon as possible - which is definitely something my cousin would have appreciated. She wouldn't change the fact that her daughter has DS, just wishes she could have learned more about it during her pregnancy and not at the same time she is learning how to be a mama! Regardless of the turnout I'll be thinking of you.

Erin said...

With my first son, I got the early screening and my pregnancy was flagged as at risk for DS at 1 in 275. I then waited for the 20 week U/S and all looked great, which then changes the odds you get to double, so for me it went to 1:550, so I just went with it. He was born with a couple health issues that my doctors say now they have the knowledge that they could have guessed some of his issues (like a congenital heart defect) because the papp-a was high. They can definitely take a closer look at the different levels things came back as like papp-a and hcg, because one elevated and one normal can actually indicate things other than DS though it can mess with the result of your odds you receive. This time around I was hesitant to do the testing again, I really don't like the idea of amnio and the risks involved, and the doctor mentioned that if DS came up again I could do the MateriT21 blood test which is a newer blood test available taken from the mother with no harm to the baby and is just about 100% accurate in detecting DS. If this blood test was around with my first son, I absolutely would have done that blood test to save the stress, or if I had found out he did have DS I could have time to prepare for the needs he may have had. But no matter what, it's great to reach the conclusion that you will love the baby and whatever health issues come his/her way.