Down syndrome

almendarez · December 2013

Update: I got my MaterniT21 results yesterday: negative for trisomies 21, 18 and 13!

I ended up starting a new thread for this. Thanks for all your support!

https://forums.thebump.com/discussion/12216239/i-am-on-cloud-9

Original post:

We got our NT scan and first trimester blood test results yesterday. Our risk of down syndrome is 1 in 220 and although this risk is "screen negative", its still pretty close to "screen positive" (1 in 100) for my age (30) so the doctors recommend doing a cell-free DNA test, which is much more accurate. I'm going to get blood drawn for the DNA test today but I don't know which one to do since Verifi has a small chance of being covered by insurance but is $1500 out of pocket if its not covered and Harmony has no chance of being covered and is $800 out of pocket. Insurance can't seem to answer the simple question of if they will cover the Verifi test or not.. so frustrating.

I don't even know if its worth it to do the DNA test, rather than just wait until we have a more detailed scan in a couple months, since we're going to keep the baby no matter what... its mostly just to put my mind at ease... In my mind, the doctor basically told me my baby has down syndrome and I have been in a really dark place since the appointment.

Anyone been in a similar boat?

flerlgirl · December 2013

1. Don't get too worked up until you know there is something for sure to get worked up about! Wait for more info and try to stay positive in the mean time.

2. I am not in this same boat, but to me, it's worth it to know if my baby will have Down Syndrome because I would want time to prepare - do my research, check out local resources in my area, figure out what steps I need to take to accommodate my child. GL and keep us posted!

flerlgirl · December 2013

Also - are you saying a 1 in 220 chance is close to a 1 in 100 chance? Because I'm no mathematician but I don't think that's true. Maybe I'm misunderstanding you.

BarooGirl · December 2013

Idk, but wishing you the very best.
You still have great odds.

almendarez · December 2013

flerlgirl said:

Also - are you saying a 1 in 220 chance is close to a 1 in 100 chance? Because I'm no mathematician but I don't think that's true. Maybe I'm misunderstanding you.

Someone my age usually has a risk closer to 1 in 900 I think so the doctors considered 1 in 220 close to a "screen positive" result...

littlemonstermama · December 2013

Mine were 1:45. I would prefer to do the blood test first, but that's not how my MFM does it. Instead, we have had to wait for a targeted ultrasound (it's next week), which will still just give us odds and then we can move on to a blood test. I'd rather just know now.

MNOpea · December 2013

I don't know if this will be helpful to you but a 1/220 chance still means there's a 99.55% chance that your baby is fine. If it was me I wouldn't choose to spend the money on additional testing, but I opted out if testing to begin with so that probably sways that decision for me. Good luck with whatever you choose to do.

Eta: spelling..

megzep · December 2013

You know, my dr asked me if I wanted the quad screening done (I'm 31). I said I don't know. He asked if any neural tube defect or downs would alter this pregnancy. (Read:abortion). I said no. He goes I didn't think so and write declined. But when I got to thinking about it, I'd want to be prepared just like you. I figured I'd wait for a/s in 5 weeks. If that shows anything (neural tube or heart defect), I'll talk with him about having test done. Good luck and try not to worry too much. Hugs!!

chickpea912 · December 2013

You need to get he procedure codes from your doctor and call your insurance or ask them to do it for you. My MFM office has a policy that I wouldn't pay more than $250 out of pocket if insurance didn't cover. We ended up doing amnio today because I wanted definitive information (cell free was still not definitive enough for me), as I have a 1:41 chance of Down's.

nunzchucks · December 2013

@chickpea912 When will you get the results?

littlemonstermama · December 2013

@chickpea912 when do you get your results? I've been thinking of you!

chaysefaith · December 2013

Who's your insurance company?

And definitely get the procedure codes from your doctor, they're a miracle worker in determining what's covered.

chickpea912 · December 2013

Monday/Tuesday - initial results from the FISH, where they put markers on the specific chromosomes they will look at (all trisomies including 21 - Down's), plus x and y.

almendarez · December 2013

I tried to give the codes to the insurance company but the lady was worthless and couldn't tell me anything... I guess I should call back again and try to talk to someone else...

when I called last week to see if the NT scan was covered, the lady thought I wanted a "nuclear scan" and made me go through all these hoops to get the scan pre-certified (which wasn't required at all).. I am not having much luck with the insurance company representatives

chaysefaith · December 2013

Who's your insurance company?

Luna C · December 2013

chickpea912 said:

You need to get he procedure codes from your doctor and call your insurance or ask them to do it for you. My MFM office has a policy that I wouldn't pay more than $250 out of pocket if insurance didn't cover. We ended up doing amnio today because I wanted definitive information (cell free was still not definitive enough for me), as I have a 1:41 chance of Down's.

This won't always work. My MFM told me that when she has given the codes to patients, many insurers say it's covered -- but in the end they end up with a massive out-of-pocket co-pay.

The way she explained it is that it's basically, a "generic" test code since it's a relatively new test, so when they look it up it comes up as something like "general blood work" which is covered. But when they get the actual claim it turns out they don't actualy pay for it -- or only a tiny part.

chickpea912 · December 2013

That's annoying. I noticed today that my MFM had a list of each test and which company covered each one. You should be able to see what your insurance will cover before you make a medical choice. Ridiculous they make it so difficult.

lucreciac · December 2013

Thinking of you @chickpea! I was in a similar boat. My nt scan was perfect but first tri screening came back a 1/100 chance, so elevated risk. I had harmony done and luckily my insurance pays for it bc of my age. But I agree either way I would have just wanted to have been prepared. Amnio was too risky for me because I already have an elevated risk of miscarriage from my blood clot. I hope it works our for you!

Riverbabe701 · December 2013

We have some friends who had a difficult time conceiving and when they finally did the nt scan results showed that their baby definitely had downs- he had all the markers. Their mfm must've done the DNA test after the later scan because they went back a couple months later, knowing they were having a special needs child's but loving him just the same, and had the second and couldn't find a single marker! I know it's hard to not worry, but just try to relax and you really never know until the baby's here..t&ps!

almendarez · December 2013

Thanks everyone. Just to update, I talked to the doctor and she explained that the state of California considers 1 in 100 high risk but doctors consider 1 in 500 high risk. She recommended the MaterniT21 dna test and thinks since they are writing me up as high risk it'll only cost about $200. Talking to her made me feel a little better...

And I just had blood drawn for MaterniT21 so we should have results in 2 weeks or so.. hopefully some good news by the new year.

ncbelle · December 2013

I think you have to focus on the fact those are still very small odds. If I could get the test covered, I'd do it - like you I just wanted to know to be able to prepare. But if it were going to cost $800+, I would just focus on the fact odds are still very much in your favor.

kd&cd · December 2013

Positive thoughts to you!

jldcjs · December 2013

Hoping for the best for you!

AbigailRebecca0711 · December 2013

I know this may not help but my mum was told high risk downs for me and my younger sister , however we both came out healthy . Think of it of a heads up , I know it's easier said then done but try not to worry xx

MissBHaven1024 · December 2013

We did the free cell test after getting a slight increased risk at our NT scan. That's just what's it's basic description is; I'm not sure if the lab sends it to the same place as Harmony or Verifi, but they're all the same. We only did the blood work to have the knowledge. It's not changing the outcome for us either. I'm sorry your NT scan didn't come back with more comforting results. Hopefully everything is just fine.

Cherylwang · December 2013

In my opinion when you have your 20 week anatomy scan you will get more answers. Even if the baby has downs you still have months from there to prepare yourself with knowledge. If you would not abort a baby either way than its not worth the out of pocket expense or the stress. Again, just my opinion.

KcashRN · December 2013

1 in 220 chance is still a 0.45% chance. NT scan isn't a reliable screening. I was in a similar situation but my midwife convinced me not to test further. A child with downs might be more work but it didn't change much for us. As my midwife said, a baby with downs isn't too different than one without initially. Still needs you to feed it, change it and love them. I thought I wanted to know so I could mentally prepare burnin thoughtful might just depress me the rest of the pregnancy. But if you need to get the test for peace of mind that's understandable.

PinkKEL9 · December 2013

My results were 1 in 410. The Dr said she is not really too worried but that the results were a bit close for my age. I have to go get blood drawn next week. I am trying not to worry.

rutt103 · January 2014

Not in the same boat but I had my beautiful little girl July 31st and at her 4 month checkup I was told she had down syndrome not a single dr had mentioned anything before that appointment we still don't have all the information but the genetic test result were positive we just got those results the Friday before Christmas but the way we look at it is she is still a perfect little girl. I did not have the prescreening done mainly because I wouldn't have aborted if I knew sooner, I most likely would have been depressed the rest of my pregnancy, and where I live if we would have had a positive test we would have to go to a hospital that was 4 hours away for the rest of my appointments and the delivery

MamaDuck2013 · January 2014

Hope you get the results you would like. With first dd, they only did the nt scan and she showed high probability of ds...I do have an analytics background and looked up her numbers...if I had been younger, they would have been considered perfectly normal so I did not worry. She turned out fine ...in fact quite gifted:). Your numbers sound great as you have less than one half of one percent chance, but I can understand your worry...let us know how it goes:)

BabyCurtiss2014 · January 2014

Those are very small odds but if you will be worried I say do the test. If you are stressed its bad for baby. There is a really small % of kids with Down syndrome it's not very common so big chances are that the baby is totally fine. I personally would worry and obsess so I would do the test for my own sanity but I'm a "special over paranoid cookie" lol 8-}

almendarez · January 2014

I got my MaterniT21 results yesterday: negative for trisomies 21, 18 and 13!

I ended up starting a new thread for this. Thanks for all your support!

https://forums.thebump.com/discussion/12216239/i-am-on-cloud-9

chloephoebecali · January 2014

Great news you can do the materniti. I had abnormal results this time (1 in 110) and with my first, my numbers were once again higher than they should have been with my age (1 in 284?) but not considered abnormal like this time because it did not hit that certain high risk number they have. It's strange how they have these arbitrary number that deem abnormal/high risk. How do they decide what is a normal threshold? No one wants to hear they are abnormal however low the risk. It is still upsetting. Luckily since I've been through all this before I wasn't losing sleep or worried. So many people experience this. It's also great that we have the noninvasive testing instead of an amino, but the insurance companies need to get with it. Luckily, we had no issue with harmony coverage. GL!

b48kate · January 2014

OP, as others have mentioned the risk remains very small. Just to give a little perspective my geneticist informed me that the baseline risk for someone OC my age is 1:300...this number is based on no scans, no tests...just being older and pregnant! I'm doing all the testing, definitely want to know.

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