Abnormal test screen T&P's please UPDATE

irisheyez7 · October 2013

So we received a call from my OBGYN today and apparently the blood work I had done for the second part of the sequential screening came back with an increased risk for Downs Syndrome. The doctor had us come into the office today and she explained that I came back with an elevated risk and the results are a 1:210 risk for Downs. I am shell shocked and did not see this coming because everything with the first screening including the NT scan came back completely normal. We have no family history of any genetic abnormalities on either side of our family.

So now I have to go in Thursday for genetic counseling and a 4D U/S where they will test to see if there are any other markers. If something comes up on the U/S we have to decide to either go forward with the Materni21 testing or have an amniocentesis. Our OB was very optimistic that there is nothing wrong but this whole thing is making my head spin. My husband and I are are both freaking out and I just can't wrap my head around it. Every single appt/test we have had thus far has been great and I just can't grasp this whole concept. My stomach is in knots and I have been a mess all day. I know I need to just calm down and there is nothing I can do and worrying will get me no where but I just can't help it. I just don't know what I am going to do having to wait all the way till THURSDAY for any answers. It's going to feel like an eternity. I just need to know my little blueberry is okay :-(

**UPDATED IN COMMENTS BELOW

*sparky* · October 2013

I am so sorry - I know how scary that is, but just remember even though that is considered an elevated risk, your chances of having a baby with DS is less than 1% if you convert that risk to percentages. Good luck with your further testing, but I really would not panic too much at this point.

BeeBee08 · October 2013

Isn't the materni21 test non-invasive and fairly conclusive? Why don't you just do that today? You would get your results back pretty quickly I think. It might help ease your mind instead of going through some more of the inconclusive tests.

Sorry you have to go through this. Good Luck and T&P's headed your way.

Serenla · October 2013

((((Hugs))))

douglamj · October 2013

Thoughts and Prayers sent your way. I am sure everything will be ok!

Nijay714 · October 2013

I'm sorry you're going through this right now, sending thoughts and prayers your way. I hope everything works for you and praying for the best results.

GeorgiaWife12 · October 2013

(((hugs))) I know your results came back 1:210 chance of Down's but that means a 209:210 that the baby doesn't have Down's. Praying for you!! Keep us updated!

bootsiebabe · October 2013

Thinking of you and hoping you get some positive news soon.

sugarrush · October 2013

my fellow chicago mama, im so sorry to hear this

I hope that everything comes back ok, positive thoughts being sent your way!!!

MrsG325 · October 2013

Thinking of you. I know exactly how you feel. But keep in mind (or try to) that there's a 209/210 chance baby is fine! That's how I'm getting through!

snappyK · October 2013

My first tri screen came back with an elevated risk for Down's (higher than yours, fwiw). I went ahead and got the free fetal DNA test, which is what the MaterniT21 is I think. It was just a blood test, so the genetic counselor scheduled it with the lab, and I didn't have to wait for an OB appointment or anything.
The results came back within a week, and they were normal. I'm so glad I went ahead and did that instead of waiting for an OB appointment or other tests.

If I were you I'd definitely call back the genetic counselor or whoever gave you the results and ask if you can just get the MaterniT21 test right now. A lot of insurance cos cover it if you've had one elevated risk result.

Best of luck!!!

Rogue237 · October 2013

Hoping you get good news - hugs!

AcaAwkward · October 2013

I'm so sorry you're experiencing such uncertainty! Please do remember that your chances are still extremely slim! I would go ahead and request the MaterniT21 test -- your insurance will likely cover it since you had increased risk during the quad screen and you'll have basically definitive answers in 10-14 business days.

CurlieWhirlie · October 2013

Sending you good vibes, try your best to stay calm until Thursday. And stay away from Google, it is not helpful. I'm sure everything will turn out ok! HUGS

Bluebird2318 · October 2013

I hope you get your answers soon! Just remember that the odds are hugely in your favor, especially if the first screen and the NT scan were good! Sending positive thoughts!

sozay23 · October 2013

So sorry for the stressful information. Like PP said just remember the odds are still strongly pointing towards a healthy baby. T&P for you and your family.

irisheyez7 · October 2013

AcaAwkwardBeeBee08snappyK ) had to say I called my OB and asked about doing the Materni21 test first/immediately. She told me that since I am at 18 weeks they would prefer to do the detailed U/S first to see if there are any visible markers and then we would sit down with the genetic counselor and discuss our options, most likely including the Materni21 test.
Thank you all for your positive reassurances.

I am doing my best to be as optimistic as possible with the odds, it's just rough. Today just really threw me for a loop but all of your responses mean a lot to me and my husband. Keeping my fingers crossed that all goes well on Thursday! It really is true what they say, the waiting is the hardest part. Thanks again ladies.

Marusika · October 2013

I hope everything is fine. After all the chance od Down Syndrome is less than 0.5% for your baby.

T&P

Dr Quarters · October 2013

I just went through this exact same situation so if need to talk, I'm here. The ultrasound and the genetic counselor will give you a lot of information and I found talking to the counselor really calmed my nerves. Hopefully the blood draw results will come in very quickly and you get good results. My thoughts are with you.

Angie&Junichi · October 2013

I am going througt this exactly right now. I had my nt scan last friday and the nt was 3.6 and they were also concerned with my age at delivery (35). I had the materniT21 test done last friday and am waiting for the results. My dr. called today and told me I have odds of 1:48 for ds and 1:54 for the others which is actually only 2% risk. I am trying to look at it as I have a 98% chance of a healthy baby. As hard as it is, try to stay positive. I just keep telling myself that my baby is healthy and that's all that matters. If you have any questions, don't hesitate to ask.

katiemay405 · October 2013

Right there with you ladies! Waiting for my bloodwork which should be back in the next couple days. It's scary but that's why we have each other. Hang in there and I'm sending you all my best.

Katiecave · October 2013

Praying the week goes by super fast and everything turns out okay for your little blueberry. ((((Hugs))))

NYJodway · October 2013

Prayers for you and the little one.

RocksInTheWater · October 2013

I'm sorry you are going through this. Praying that all further testing shows no problems.

bootsiebabe · October 2013

Also, a similar thing happened to my friend who is about to give birth any day now. She got an irregular result for spina bifida in her second tri screen. She had to do additional testing and have a specialist do an ultrasound. They got good news that the baby is healthy. I'm hoping the same for you!

BiggerinRealLife · October 2013

I'm sorry you're going through this, but I'm super optimistic for you that everything is fine! Elevated doesn't mean guaranteed, 1:210 = 0.00476% (I think. Math is not my subject!) I know it's hard, but try not to stress. Do some nice things for yourself; take a warm bath, go buy a new book, go for a walk with your man, ask him to buy you flowers, get a massage, spend some time in your favorite nature spot, whatever will feed your spirit. Stress isn't going to help your baby, so whatever you can do to distract yourself. I'll be praying for you and your baby, and for both of your stress levels until you find out.

NatalieBier · October 2013

I posted before.m, but I had 1:29 risk for downs after my blood test and all has turned out ok after a full chromosome analysis. Prayers though because I know a hard it is to hear "elevated risk". Also have a good friend who has 1:10 and everything turned out ok.

irisheyez7 · November 2013

~So we spoke to the genetic counselor last night and had the ultrasound this evening. Unfortunately, no real answers yet. The ultrasound was good. The doctor could see no visible markers, heart looks good, brain looks good, everything is measuring right on schedule. Heartbeat was 147 and she weighs around 8oz. The doc says everything looks good, as far as he can *tell*. Unfortunantley you cannot "see" down syndrome on a screen. He wants us to come back in 3 weeks so he can take a better look. So we got no negative information but nothing entirely positive either. We opted to do the Materni21 testing because I just can't sit around not knowing either way. (Here's hoping my insurance covers the test!) So now it is just MORE waiting. 10 business days. Overall,I feel much better about the situation than I did on Monday when we first heard but I will feel extremely relieved when we get the test results back and find out 99% conclusively that everything is just fine.

Thank all you ladies for all your comments, thoughts and prayers. It truly means a lot and it really does help :-)

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