NT Scan Results

indianaalum

So. I got some discouraging news today

Based on my age, a typical result comes back as 1:53 risk for Downs. Mine came back as 1:45 which is considered "positive" for Down Syndrome.

Scared to death.

LilSip0611

The NT scan just provides a risk assessment and is in no way a positive or negative result. Our results came back high risk because my HCG was a lot higher than what the algorithm expected it to be. We opted for the cell free DNA testing to give us a better indicator of what to expect and it came back less than 1:10000. What did your OB say about next steps? Try to take a deep breath and not stress too much until you have more concrete information. Just because it's a higher risk, doesn't necessarily mean your baby will be the one that will have Down Syndrome. Sending you lots of good thoughts!

Deardra77

So sorry to hear! When we went through testing the explained how the villi sampling and the amino were definitive rather than the others so it's an option for more testing now as I am sure they told you. 1 out if 43 means 42 out of 43 it's not so hang in there! Hugs as u are facing into this :-(

indianaalum

The next step is to meet with the doctor on Tuesday. The PA actually called me.

I admit i am petrified. I am pretty sure i will decline an amnio.

Does anyone know if the Verify or Materni21 are tests I can then take to rule in/rule out Downs?

This is what i know so far

Neck was good.

Nasal Bone Absent

Some protein test came back high.

any suggestions on next steps? anyone else have this with good results?

Deardra77

I can answer based in what I know which isn't a whole lot unfortunately. I had a test like the materniti21 and it is supposed to be waaaaay more accurate that the blood work and NT scan which is why I choose to do it. BUT it was explained to me that it was not actually diagnostic like an amino is, u get a number back of likelihood like u do with the NT test. And if the results can back unfavorable/questionable I would still need the amino to be sure. But I do imagine from what I was told that the accuracy it the likelihood of the baby having downs would be better with the materniti21. You should try posting in the high risk board, it's not very active but u may be able to connect with some people that can help or get referred to another site with a more active board on this issue.

Hugs, hang in there, can't imagine what it must have been like getting this news

Deardra77

One other thing to add, with my first pregnancy I had a vanishing twin. This meant the results of the early blood work would be inaccurate so had to look at the nt scan plus the 2nd tri blood work to get a risk rating. I'm mobile so can't see ur siggy but if u had more than one embryo implant that later stopped developing it could be what is making the numbers wonky.

indianaalum

@deardra77. I also had a vanishing twin. Could that explain this?

good idea about High Risk

LilSip0611

indianaalum said:

The next step is to meet with the doctor on Tuesday. The PA actually called me.

I admit i am petrified. I am pretty sure i will decline an amnio.

Does anyone know if the Verify or Materni21 are tests I can then take to rule in/rule out Downs?

This is what i know so far

Neck was good.

Nasal Bone Absent

Some protein test came back high.

any suggestions on next steps? anyone else have this with good results?

We had the Harmony test done which is virtually the same as the Verifi and MaterniT21 tests. I was totally petrified as well so I know how you feel. The cell free DNA testing will give you a better indication of what to expect but it's still not diagnostic as a CVS or amnio. Hang in there! ::HUGS::

Deardra77

indianaalum said:

@deardra77. I also had a vanishing twin. Could that explain this?

good idea about High Risk

yes absolutely that could be the cause of the results! Its entirely possible the twin that didn't make it had downs and that was why it didn't make it. At a computer now & seeing your due date, means you are about 13 weeks. When I had the vanishing twin I asked in the OBs office if its loss would interfere with the testing. They were very unsure to being with & had to leave & go find out the answer (it was a NP). Turns out if you have a twin loss before 8 weeks they can still do the scan & the blood work in 2nd tri, around 16 weeks I think it is. Usually they do this & also the first tri blood work but due to the twin loss they couldn't do the first tri blood work. Had to wait the whole way to 17 weeks to get results which was not fun. If the loss was after 8 weeks they wouldn't have been able to get valid results form this type of testing at all (how that works with the NIPT testing, that's the type of test that Matirnitit21 is, I have no idea as I didn't have it with my 1st pregnancy).  I was told that 2 data points were needed to give a statistical likelihood. So due to twin loss that was the 2nd tri blood work & the NT scan for me.

So based on that & your due date it looks like they did the bloodwork in first tri & the NT scan. Is that correct? If so it means the test results will be inaccurate as they really need to wait until 2nd tri for the blood work & if the loss was after 8 weeks the 2nd tri blood work won't be accurate either. I've seen another woman say the same thing about testing in her Drs office so not just mine. I don't think Drs are used to people knowing if they had an early twin loss as fertiles generally would never know due to not having such early ultrasounds. So not really a negative reflection that they went ahead with testing, my office would have too if I hadn't been so inquisitive

absolutelymaybe

I'm so sorry you've got these disappointing results. Others have pretty much covered what I have to say. Did they factor in the vanishing twin when they did the bloodwork? 

Mrs.McIrish

I'm so sorry you are scared but I totally think it is the vanishing twin affecting the results especially since the protein factor was the only thing high and not neck fold/nasal bone. Twins give off higher protein and they may not have factored that in. Sending T&Ps .

indianaalum

Thanks. Please pray that it is a "vanishing twin" issue. I am trying to stay positive, as there is still 44/45 chance it is not downs..Trying to look at the positive side.

If it is downs, I will still love it anyway and would never consider terminating

happygirl1013

I'm so sorry you are dealing with this. An aunt in my family has this happen... She was 27 and the drs gave her a really high probability of downs, and her baby boy is now 5 and is perfectly happy and healthy without downs. Sending thoughts and prayers your way.

indianaalum

Thanks everyone for the support. Obviously scared to death, but sounds like alot of people have "false" positives so I am praying i am in that category. 

I'd be a liar if I didn't admit to having a pity party in my head right now. I  keep thinking that I courted this by doing IVF at age 40, like it's my own fault if the baby has something wrong with it.

Sad thing is I found out yesterday, and this is the weekend I planned on telling everyone our big news. I will still tell people about baby (without this news) but this definitely puts a damper on it.

For once, I just want something to be easy for me. It took me to 39 to find someone worth marrying, then I couldn't get pregnant, needed IVF and then now this. 

TRYING to be positive.

indianaalum

calindi said:

Huge hugs! That is definitely scary. But if I am reading that right, 44/45 times would mean NO Downs, and only 1/45, yes? There is definitely lots of hope your baby won't have it. And I know it's hard to fathom having a child with those types of needs, but even in the unlikely chance, it will be okay. I have worked with Special Olympics, and despite the challenges, the families of those with Downs are amazingly happy on the whole. Children with Downs are full of love and curiosity. Not that we get to pick our challenges, but I would rather have a child with Downs than many other issues because those children are generally very happy, fun loving people who bring a lot of joy to their families and live full (although differently abled) lives.

I agree with this actually. I work with a variety of kids with different special needs and I agree they are mostly happy. Downs is one I have always said would be the one I would prefer if I was going to have special needs.

indianaalum

Deardra77 said:

indianaalum said:

@deardra77. I also had a vanishing twin. Could that explain this?

good idea about High Risk

yes absolutely that could be the cause of the results! Its entirely possible the twin that didn't make it had downs and that was why it didn't make it. At a computer now & seeing your due date, means you are about 13 weeks. When I had the vanishing twin I asked in the OBs office if its loss would interfere with the testing. They were very unsure to being with & had to leave & go find out the answer (it was a NP). Turns out if you have a twin loss before 8 weeks they can still do the scan & the blood work in 2nd tri, around 16 weeks I think it is. Usually they do this & also the first tri blood work but due to the twin loss they couldn't do the first tri blood work. Had to wait the whole way to 17 weeks to get results which was not fun. If the loss was after 8 weeks they wouldn't have been able to get valid results form this type of testing at all (how that works with the NIPT testing, that's the type of test that Matirnitit21 is, I have no idea as I didn't have it with my 1st pregnancy).  I was told that 2 data points were needed to give a statistical likelihood. So due to twin loss that was the 2nd tri blood work & the NT scan for me.

So based on that & your due date it looks like they did the bloodwork in first tri & the NT scan. Is that correct? If so it means the test results will be inaccurate as they really need to wait until 2nd tri for the blood work & if the loss was after 8 weeks the 2nd tri blood work won't be accurate either. I've seen another woman say the same thing about testing in her Drs office so not just mine. I don't think Drs are used to people knowing if they had an early twin loss as fertiles generally would never know due to not having such early ultrasounds. So not really a negative reflection that they went ahead with testing, my office would have too if I hadn't been so inquisitive

The "vanishing twin" basically stayed a yolk sac, and never developed a heart beat. It's really hard to say at what week it stopped (probably about 6 -7 weeks since heartbeat should have been present by then) because it can actually at 12 weeks still be seen on the ultrasounds. It is tinier, but it is still there. With that info, not sure if the fact that the little sac is still there suggests it would REALLY still mess up testing. not sure. Will definitely ask that question when I see doctor in person on Tuesday

Allison7

Like others have said, the NT results are odds not definitive, so you still have a good chance that the baby will be fine. I elected to do Verifi testing because they didn't give those same type of odds (my hospital has an either or policy with verifi and nt).

Moving forward, you need to decide what further testing you want. Amnio carries a risk of loss while verifi, maternit21, etc., do not. But most OBs only consider the amnio completely definitive. If it was me, I would do the verifi (or whichever one your OB offers). If that came back positive, (Since they are 98%+ accurate), then I would consider the amnio. My thoughts are that verifi will give you the answers you want and then you can make decisions from there. Also, with whatever testing you decide to do, you need to mention the vanishing twin.

Finally, I know you must be frustrated. It seems so unfair after all you go through with a IF that you have to continue to have complications. I hope that everything turns out okay. It is not your fault and you have the support of everyone when you need it.

indianaalum

UPDATE:

I went today and did the Panorama test.

I asked again about nasal bone and she said she really isn't sure if the tech measured it since there are no notes in there at all, so it doesn't say "absent", it just isnt mentioned. So PLEASE PLEASE pray that it just was overlooked by the hurried little tech person who was hopefully too lazy to measure or look for it.

She also didn't see the "protein" issue that the person on the phone mentioned to me. She said my bloodwork did seem okay, so she isn't really sure why they said it.

I am trying to stay calm, but I admit I cried my eyes out last night over this. 

She reminded me that it was my AGE that really lead to such a scary number, and that she might have gotten a scary number at my age, as well. Let's PRAY that she is right. 

Keep me and the baby in your prayers. I am still pretty terrified, but trying to stay calm

absolutelymaybe

Good update! I hope you are feeling a little bit more positive :-) Wishing you nothing but the best and FX'd.