Unclear DS result- confused about next step

[Mumto1andbump]

Hi all. This is my first post and I'm sorry its a long one. I can't find anything online that has quite the same situation so felt I needed to post to talk it through.

My 12week (was actually 13) screening tests came back with the DS result as unclear but high risk.
The lady read it to me as something like 'T21 unclear result truncated to 10'. She said she didn't know what that meant but from what they've been able to get results on is high risk. Apparently the Edwards and Patau were totally normal. My nuchal test was below 3 (don't know what but sonographer said it was under the 3 they look for). I'm devastated with the results as we are lucky enough to already have 1 child so this was so unexpected.

So I was given the option of the further screening tests (I think this is what was the harmony people paid for but she said its now available on nhs) but results would take 2 weeks. Or to go for cvs/amnio with the risks associated. We have booked in for the cvs which is a week away, I'll be 15 weeks (at the appointment I can discuss if we go for amnio as I'll be on the cut off 15 week point).

I am just so confused and second guessing myself. Keep wondering should I get those blood tests done because the result was unclear (how can I be certain it was really really high risk without being given a figure like everyone else seems to get, and knowing my nuchal was below 3?) and postpone the cvs because I'm possibly putting baby at risk for nothing or just go for the cvs because it will be a 100% diagnosis. Can't help but worry even if things are OK, that we will end up losing the baby to miscarriage and to cause that would be awful. Been told the risk at the hospital we would go to is 1/1000.

Any thoughts or similar experiences would be really appreciated. Feel so lost and alone.

I haven't seen anyone on here or online with an 'unclear' result from those screening tests.

I’m sorry you’re going through this, but the results were not totally unclear it seems they were able to determine a High risk which is when they offer further tests as they do.

Why don’t you call your midwife or gp and ask them to explain it further to you?

I'm sorry you are having to go through this.

If I were in your position, I would definitely opt for the Harmony test before going down the CVS route.

Our Harmony results came back in one week. I know two weeks will feel excruciatingly long, but the test is very reliable and as it's just a blood draw from you has no risks to your little one.

You normally get a 1 chance in x result...so I'm not sure what the result of 10 is. Was it 1 in 10?

Sorry you are going through this.

I would do the harmony op. Results may come back quicker but even if it is two weeks the risk to your baby is none.

@Bluntness100 yeah they have said high risk but apparently for some reason it didn't come out with an actual risk figure. I will ring my midwife tomorrow to talk through it more.

@covidcorvid the lady on the phone said she 'thought' it could mean 10 because that number was there but since it didn't say 1 in 10 she couldn't be sure.

Thanks to everyone for your replies suggesting the harmony. I think I feel that even if those results came back as 1 in a million I'd still wonder about being the 1. I am just that sort of person. Whereas the cvs will be clear cut.

So hard to believe this is happening, I really appreciate you all replying to me.

10 is a meaningless figure... I'd ring back tomorrow and ask for someone to explain the figures so that you can make an informed decision about your next step.

Yes I think calling and asking for more info is the next step op.

Hi @Mumto1andbump aww so sorry you’re going through this, I can relate to the worry 😢 We had a greater than 1 in 4 chance of DS with our second baby - largely due to a high NT and bloods being slightly off. We had a harmony test and I must say, I was reassured on the results for T21/18/13 when they came back very low chance. I was on the fence for any invasive tests because of the miscarriage risk - however, because of the high NT we decided to look at all chromosomes and had an amnio at 16 weeks. All was clear and our son arrived last summer. One day I just woke up and decided I needed to know more - after that point I didn’t doubt my decision on the amnio but it took a while for me to come to it. I think perhaps NIPT initially is the way to go and then an invasive test if you then feel the need. Although I’m not sure if with the NHS if NT is normal and you get a low chance NIPT result whether you’d then be able to have an invasive test on the NHS? I’m not sure how it works, perhaps best to check. We had paid for our NIPT privately anyway but they would still have offered both because of the high NT we had I think. Sending you love x

I had a scan at 13+2 NT measurement was 1.5 and everything on the scan seemed ok. But I came back high risk for DS based on the bloods they did, I decided to go for the NIPT and was the second person to have had this on the NHS in my trust, had the blood taken last Thursday and had a phone call to say results are low risk on Wednesday of this week, they did say it would be 7-14 days but it was actually quicker. We’ve decided not to have any further tests at the moment, I have a low Papp-a and been told I will be consultant lead because of this, I’m still not sure if we should have had more tests, but going to see how we get on at the 20 week scan. Wishing you all the best, and hoping that you don’t have to long a wait for more answers x

www.arc-uk.org/

This charity ARC have a helpline you can call, and are wonderful.

Like many of you suggested I called and asked for more clarity. A different midwife was able to tell me that it's because my hcg came back so high that the result was high risk. @Mayneedanextraroom

I have just been for the NIPT test and cancelled the cvs for now. I feel a lot better knowing I've not rushed into the cvs without first having more clarity and possibly risking that baby, although will still consider it if needed when results come through. Thank you all so much for your help. @Mayneedanextraroom like you I seem to be the 2nd at my trust to get it so hopefully somehow the results come back as low!! X

@Mumto1andbump I’m so glad you got some more answers re your results, I think the good thing about the NIPT is there’s no risk, I know it’s not a diagnostic test and not ever going to give 100% yes/no but like you say you can still have further tests even if the NIPT comes back low risk, that’s completely your choice. Oh wow it’s crazy to say that only one other person has had it before you on the NHS isn’t it, and so good it’s now an option to have it. My screening midwife said as not many have gone through the system yet that they seem to be working through them quite quickly so I hope you get yours back quickly too, did they say yours will be sent to Birmingham hospital for processing? thinking of you, I know the wait is hard- keep yourself busy over this weekend, I found that really helped x

@jmm499 thanks for your reply and support. Great to hear your good news about your son. This morning I tried to move my mindset and just focus on the pregnancy now while we wait, I can't detach myself for weeks like I had originally planned as we'd be living no life!

Sorry my replies and tags are all over the place, clearly haven't got to grips with this yet. X

Definitely don’t detach yourself, I’ve done that and now massively struggling 😔

@Mumto1andbump you’re welcome! Yes it was such a relief to come through that, I know exactly how it feels to worry. A friend of mine who practices a lot of mindfulness said at the time that the only thing true in this moment was that I was pregnant and that was still really special. It made me think about things differently whilst I waited for news. Hopefully you can do the same! Great that the NIPT is in process - fingers crossed you’ll hear back next week. Thinking of you xxx

@mayneedanextraroom Yes I think that's the thing to focus on at the moment, no risk.

Yes it's gone to Birmingham. That's positive to hear we might get the results back quickly, makes sense as to why. Ours is a small hospital so that's possibly why it's so new to them, she said some weeks there are no high risk cases and other weeks a few. Hopefully it does come back with an actual result and not just unclear again!

I'm sorry that you feel you are struggling now :( have you spoken to friends or family about your situation? X

@Mumto1andbump I've recently had the NIPT through genetics in Birmingham and the gentleman I've been speaking to has been so amazing and reassuring. I had mine taken on a Monday and got the results back the following week on the Friday. It took longer than the private ones I've had before but he said they'd had a delay in the lab. I've got everything crossed that you get yours back quick and with a low probability 🤞🏼

Thanks for this reply. Yesterday I did a lot of research (mostly on forums!) but managed to talk myself into things looking positive for us. Trying to remind myself of that today when I'm wavering a bit! I hope everything turned out well for you x @NoCallerID

@Mumto1andbump just wondered how you were getting on?

Hi, still waiting i rang them for an update this morning but they said they're still chasing and should have the result for me today. So been trying to preoccupy myself for these last few hours! I'll let you guys know when I hear an update! X

We have just got the news we were hoping for- results came back low chance. Apparently they don't give out a numerical figure with these which is annoying. I asked the question would we have been given any further options even if we were 1/151 from the original results and they said no, so we won't be going any further now with an amnio. So relieved. I appreciate everyone's circumstances are different and really wish everyone who may be in this situation in the future the best. Thanks so much for all of your support xx

@Mumto1andbump fantastic news! Very happy for you!

@Mumto1andbump I’m so so pleased to read your update, I have been trying to find this thread to see if you’d had your results xx