Genetic Testing Results Thread

julianne0

**changed the title so it could be more inclusive for the whole board. This is a thread for support needed around NT scan/blood work results and support!**

I went in yesterday for the ultrasound portion of the genetic testing and was told that the baby’s neck is measuring thicker than it should. I was so blindsided by this that I could hardly pay attention to what the doctor was telling me, but I believe she said 3.4 is the highest they’d want to see, and this baby was at 4.2 I think it was. I’m now scheduled to see a high risk specialist later on today. I was extremely upset yesterday but after talking through it and realizing we would love this baby no matter what, I’m feeling a little better.
 Has any other mom been through this? My DH found a blog on the babycenter and it looks like this can be a common thing where the neck is measuring too thick but the baby ends up being very healthy... hoping for the best and trying to remain optimistic 

dimeadozen

FTM here and haven't had the testing, but sorry you had a bad appointment! I'm hoping for the best for you, either way you'll have a beautiful baby to love unconditionally!

ETA: wildtot made me think, you could try the NIPT test (non invasive blood test). The doctor will take a few vials of blood and send it off to the lab.  That looks into downs syndrome, Turner's and a few others more in detail - it also will tell you the gender as well.

There are more invasive tests.. if you choose to go that route.

wildtot

I’m sorry for the news. I can’t relate but I’m curious if they have received your blood work results? Usually they determine a full risk factor that way. From what I’ve heard there are other testing options to determine a more accurate diagnosis. I have my NT scan in 2 hrs and even though it’s my second baby it’s nerve racking. I’m the same with the thought of loving them regardless. Please keep us posted! I hope the specialist can offer some good options and advise.

julianne0

@gspmom21 @wildtot I had the blood draw on Friday and they said the results take a bit to come back. I was supposed to have gotten the US that day too but the baby’s position didn’t allow them to measure the neck. I’m kind of glad because then we would have been sitting with that news all weekend before meeting with the high risk doctor. I think they’ll do more testing today during that appointment? I was trying so hard to pay attention but it was so difficult and of course dh didn’t come because it was basically a redo US!

julianne0

@wildtot good luck with your testing today! 

wildtot

@julianne0 what gspmom21 said about the blood work. My blood work took about a week and they took a handful of vials. 

dimeadozen

@wildtot good luck today! My appointment is tomorrow, they didn't say it was the NT appointment, but i'll be 13 weeks, so I'm quite sure they will. Its one of those things, as moms we're going to worry over everything! *try* to calm your nerves give us an update when you have time today.

@julianne0 if you're considered high risk or depending on where you live they might give you the NIPT test for free. My doctor offers is for $150 if there's no threat and you just elect to have it.

zande2016

From what I understand, the NT scan is only a screening measure to determine level of risk for Down's, and to get an actual diagnosis they would have to do a CVS or amnio, which are more invasive tests. The NIPT blood test gives you a better idea of risk, but only the two I just mentioned can actually diagnose. This is what the MFM doctor who did my NT scan explained to me yesterday. Try not to worry too much until you see the high risk doctor and get your blood results back, though I know how hard that is. The high risk doc might suggest further testing. Good luck and I'm so sorry you're going through this! 

WorkinWeezel

Good luck.  Everything about being a mom/pregnant can be scary.  They have to be thorough and keep you informed, so that's why they want to jump on this ASAP.  Because I'm AMA, I had the NIPT done on 12/14 along with the Ultrasound and STILL do not have results- almost 3 weeks!  So hopefully they will expedite yours and you will have some answers soon.  

FWIW- the NIPT tests for DS and the Trisomys; then, about a month later they do another draw for Spina Bifida.

ETA- clarification- NIPT test for RISKS of these disorders- apparently 99% accurate

acunamatada

I’m so sorry this is happening for you! I’m glad they’re having you meet with a specialist today so you have a better idea of what you could be dealing with. Have they done your blood work yet? For the NT test they combine the two values and come up with your overall risk. 
I would think they would base further testing off of what those results showed because like someone said the NT and the NIPT tests are screenings to test your risk- you would need more invasive testing for a definitive diagnosis. I hope everything turns out okay! I love your optimistic attitude, I know it’s hard but try not to worry! 

julianne0

From what I’ve learned lately it seems like you don’t find out for sure for a few more weeks, so I guess that would be because of the additional testing. It sucks that it can’t be confirmed or not right away so that it’s not weeks of worrying and stress but what can you do. 
@WorkinWeezel what does it mean to be AMA?

stlmegs

I'm sorry you guys are in this situation, but I am glad you will get answers today!

stillcozy

good luck to everyone and hope you get some answers

amylu914

I'm so sorry for the extra worry. I hope your blood work comes back quickly!

WorkinWeezel

@julianne0 - AMA= Advanced Maternal Age (35+)

comealongponds

The NT scan isn’t diagnostic, it just gives you a relative risk for the potential for abnormalities. NIPT is also not diagnostic, but it is typically more specific than the NT scan and since your NT was elevated, you may be “high risk” enough for NIPT to be covered for you. I hope you get some answers soon, thinking of you. 

julianne0

@WorkinWeezel I’ll be thinking of you!
thank you everyone for your support and also your knowledge! As I said I was too surprised and upset to listen thoroughly to the doctor and didn’t ask questions either.
I know it only assesses the risk factor but to get unexpected news like that can be really upsetting because of course you start thinking about if it really will be the baby’s future. 
Thank you again! 

WorkinWeezel

julianne0 said:

@WorkinWeezel I’ll be thinking of you!
thank you everyone for your support and also your knowledge! As I said I was too surprised and upset to listen thoroughly to the doctor and didn’t ask questions either.
I know it only assesses the risk factor but to get unexpected news like that can be really upsetting because of course you start thinking about if it really will be the baby’s future. 
Thank you again! 

I love what you said in your early post, and I can only imagine how stressful this can be, but remind yourself that you WILL love this baby, no matter what.  Everyone has a struggle that they face with their children, whether it be something genetic or anything else in the world, and we love them.  You'll be prepared for whatever happens, and as soon as they lay this baby in your arms (no matter the outcome of further testing) you will be absolutely smitten.  Stay strong and keep us posted, we will all be thinking of you!! xox

Sarafuss

***TW: abnormal NT results/chromosomal abnormality***

First, I’m so sorry you are going through this.  I know how scary it is.  I have had a similar situation but my daughter’s nuchal measurement was in the 5-6mm range.  When I was going through this a couple of years ago I had heard of a lot of women who received abnormal NT results but their babies turned out to be fine.  So it definitely doesn’t mean there is absolutely something wrong with your baby.  In my case, we decided to do the Panorama blood work (NIPT blood work) that same day as the NT scan.  Those results came back normal/low risk.  We decided to do an amino when I was closer to full term (because we were seeing other physical issues with her anatomy on all of her ultrasounds) and those results showed that she had a rare genetic condition that the standard NIPT blood work doesn’t test for.

If you feel you need definite answers to go through the rest of your pregnancy without stress (or to prepare for any issues that may come up) then I would suggest doing a CVS or amino.  You could do a CVS now but would need to wait until closer to 16 weeks for an amino.  If you think the NIPT results will give you peace of mind, I would go that route.  

If you would like to PM me with questions or just for support I would be happy to talk anytime!

julianne0

@WorkinWeezel it’s so true, you really can never know what will come up to deal with. I’m so glad I already have a baby so that i truly understand the unconditional love! I think that’s what makes it a little easier to think about
 
@Sarafuss I would love to hear more and will definitely PM you, thank you so much for reaching out. I just had the appt with the genetic counselor and am back to feeling really upset

TheQuietThings

I don't have any additional information to add.  Hoping that you receive positive answers quickly, and we'll be here every step of the way for you!

bearrosebudbutterflyrainbow

Hi @julianne0, just wanted to share that I know the stress you are going through.  DH and I had the initial shock and panic, but like you, we know we'll love the baby no matter what.  With us, the NT measurement was normal, but the finger prick bloodwork came back with high risk.   We decided to go with cell-free DNA testing (NIPT) because it was non-invasive and from what I gathered from the doctor, it is pretty accurate (99%), like some other posters have said.  The genetic counselor we met with said that this would be a pretty clear answer, whether the baby will or will not have Down Syndrome.  I'm so glad we requested to meet with the genetic counselor after the NIPT/cell-free blood draw because I feel like I got a lot more information about the accuracy of this test and what our results will mean (positive or negative).  The initial shock when we got the phone call was so scary, I couldn't think of any questions, but the waiting for testing gave me time to think of things to ask. While, we are still waiting to hear results (hopefully we will know next week), at least I feel like we will have a clear answer.  I know having the actual face to face meeting helped me, so it might give you some clarity too, if you have the opportunity to visit again with more questions!   Hang in there, I'll be thinking of you!

julianne0

@julybabybear I will definitely be thinking of you. We met with a genetic counselor yesterday for the first time but she didn’t mention additional blood work/NIPT. She discussed doing the invasive testing which I really don’t want to do. I hope I can meet with a doctor soon and ask about it. I keep saying I just hate the waiting game! As I’m sure you understand. 
I look forward to hearing how things go for you!
 

morethanamama

@julianne0 could it be because of how far along you are? NIPT has a cutoff at 13+6 I think. If you're not that far then it should be offered as an option before going the invasive route. Either way I'll be thinking of you and @julybabybear!

julianne0

@kissableviv I am 13w3d today. I got the blood work done this past Friday as part of the Harmony screening. Not sure if that’s what others get as well? 

morethanamama

julianne0 said:

@kissableviv I am 13w3d today. I got the blood work done this past Friday as part of the Harmony screening. Not sure if that’s what others get as well? 

julianne0 said:

@kissableviv I am 13w3d today. I got the blood work done this past Friday as part of the Harmony screening. Not sure if that’s what others get as well? 

Uuuugh these boxes are the worst! Yes, I think so:)

Pinky917

@julianne0 First of all I am so sorry that you are going through this. We just had our NT scan on Tuesday and we ended up coming up as higher risk for DS due to my bloodwork results. I know it is really scary news to get (I know I was a mess after our appointment on Tuesday), but just remember that this is only a screening and not a definite answer. There may be a chance that there could be an issue, but it is much more likely everything is fine. The NIPT  (which yes, the Harmony test is a form of NIPT) is also still just a screening, but it will be able to give your Dr some more information in order to determine if any further testing may be necessary. I hope your results come quickly and you are able to get some reassurance. We just did our NIPT bloodwork yesterday, so we are playing the waiting game as well. 

julianne0

Oh no @Pinky917 I’m sorry your going through it. Thank you for clarifying the NIPT/harmony, I’m glad they’re the same thing. I keep telling myself that we learned it can be a normal variation and can end up being nothing. I really hope the best for you too! Keep us posted

Pinky917

@julianne0 One thing that I read that helped me feel better was that about 1 in 20 women will end up getting an increased risk from this test, but the actually DS rates are significantly lower than that. The odds are on your side. 

moguippy

Fingers crossed for all those waiting on results. The odds are in our favor!

I need to rant a little. I got my blood drawn on 12/27 for the NIPT (I think we are doing Counsyl). I called my OB today to see if the results were possibly in (I wanted them to fax the results to the genetic counselor we are seeing today) and they told me my blood sample didn't make it to the lab on time and the lab wouldn't test it bc it was too old.  It's not the end of the world bc I am still in the window where they can draw again buuuut now we have to wait even longer (we are waiting to announce until we get all our results), I have to get a needle again, and I'm mostly mad that they didn't call me to tell me and waited until I called them. Ugh. End rant.  But they did tell me I was negative for Cystic Fibrosis and Fragile X (mandatory testing by me apparently) so that is great to hear. 

Pinky917

@moguippy Ugh, that is so frustrating! I am so sorry you have to do all that again. Hopefully this time they move a little faster!

nimmle

@moguippy So sorry that you are going through that! Fingers crossed everything works out ok now.

AFM - I called by doctor to get my genetic screening results back and I'm all clear, not a carrier for anything (which is odd because my 23andme had me as a carrier for non-syndromic hearing loss). Whatever, hubby and I already know we aren't matching for anything 23andme tests. Anywho, I got my blood drawn for Panorama on 1/2, apparently I should know by next week. Fingers and toes crossed.

adventuresawait1

@moguippy Sorry to hear this happened to you.  It happened to me, too - I had my blood drawn the week before you did, but the sample "deteriorated," presumably also due to time delays (and they didn't let me know anything until this Tuesday).  Seems like the holidays threw some lab stuff off.  I re-did mine on Tuesday and hope I'll have the results next week.  Hope you can get the re-test soon and get the results quickly!

julianne0

Ugh @moguippy that is so annoying. Things like that make me wonder: what if you didn’t call?! When would they have told you to come back in! And it’s so agonizing to wait so that would be really hard to do it over and wait some more.

christycalifornia

Hey Julianne! Just wanted to let you know I'm thinking of you, and you all are in my prayers. I hope you get some answers soon, and can try and not worry too much about the unknown until then. I'm so sorry, it's hard enough dealing with the normal worry of being pregnant without additional stressors.

julianne0

Thank you @christycalifornia! The unknown is so hard. It could be absolutely nothing at all but it could also mean the worse. 

On a a slightly different note, should I change the title of this post for others to post about their results incase they are also like looking for support? I do feel like this is a specific area of worry so it might be helpful

nimmle

@julianne0 I agree! It’s eefinitely a huge area between results and costs involved.  I think the title is ok. Maybe you can call it “The ultimate genetic testing thread” and adding a line into the first post to invite others to talk about their experiences and worries. 

julianne0

Will do @nimmle! Hopefully we all only have positive updates

moguippy

I have to go tonight to get my blood redrawn. So leaving early from work (again) and driving in the snow that is conveniently only going to fall during rush hour (ugh! c'mon mother nature, get it together!)  But at least I am still in the time window because I had it drawn early the first time.  I think my results will take 10 days. Which is super annoying bc we are waiting for them to announce this pregnancy.  But it is what it is.  Thanks for hearing my rant lol

morganelizabeth123

@julianne0 Thank you so much for starting this thread. I have been avoiding the boards for the last week after I got a very scary phone call that our Cell Free DNA test came back positive for Down Syndrome. I have felt so alone with this and it only occurred to me just now that there might be a thread on this very topic. 

Here is what I know, in case it helps someone else. The Cell Free DNA test is a screening test only. They say it is 99% accurate because it catches 99% of cases. However, there is only an 89% chance that my baby actually has DS. 

Our Dr told us that there were DS cells in my blood, and there is an 89% chance that those cells came from the baby. (Other possibilities would be like if I actually had twins for a short time and then had a vanishing twin situation- it could be the twin's cells in the placenta that are making the test positive.)

I am going in for an Amneo on Wednesday, which should tell us for sure. I am also meeting with my Dr tomorrow, so I will let you all know if she says anything that might be helpful.

nimmle

Just checked the Natera patient portal and apparently my results were delivered to my provider today. I called early this morning and they said they didn't have it yet and to call back on Thursday. Well now it's too late for me to call to get the results! So clearly I'm calling again tomorrow morning and not waiting.