Increased risk of downs NIPT or cvs

[taraRoo]

Hi everyone

I have no idea what to do here. I'm in shock. My bloods came back after 12 week scan and put me in higher risk area for downs. 1:97 to be precise. I'm terrified.

The Nuchal fold was fine but my blood hormone level was very high,

I have a choice of nict or cvs next week. Nict will cost £350. Luckily I'm in a position to pay this. I have opted for this but I'm not sure whether I'd actually rather just have to cvs for a yes or no.

What do you think?

I had the harmony test. I was happy to trust the results if they said it was low risk.

If risk had came back high I would have had a cvs or amnio then.

Depends on wether you would trust the results.

Yes I think trust the results. It seems very well tested. How did you cope with the wait? Just not sure how I'm going to cope with this not to mention If the result doesn't go my way.

I had the harmony test in a similar situation. It is very accurate, so I was happy to trust it. We found out we were having a healthy daughter.

@taraRoo sorry you're going through this, I had similar odds of 1:110 and had the harmony test. My plan was to only have an amino or CVS if the harmony was positive too. Thankfully it came back low risk. I did have a slight niggle of ’what if it’s wrong?’ but I was generally reassured. It was accurate though. My dd was born without any issues 3 weeks ago.

I won't lie, the wait for the results was horrible and I was a mess but I also felt so relieved and happy when I got the low risk results back that I forgot about the stress of the whole situation pretty quick. As an added bonus we got to find out we were having a girl which was lovely to know fairly early on in the pregnancy.

@DuchenneParent @Aria2015

Thanks for getting back to me. I've spent the day is sort of meltdown mode. We are still planning to do the Harmony test on Monday. Then it could be up to ten days.
I'll probably find out in my birthday which will either ruin me or make me.

I've had a horrible pregnancy. Been really unwell and exhausted. I've lost half a stone. Just starting to feel vaguely human again then this. 😪

The wait was hard. It was 6 years ago now but we got the results in about 6 days.

My original risk was 1:5
The harmony test came back 1:10,000

You can decide if you want to know the sex or not.

I had had a previous missed miscarriage and although the risk was low I wasn't willing to do a cvs or amnio unless I absolutely had to.

The harmony test isn't diagnostic at the minute but it is so highly accurate that it l was happy to accept the results.

I think the wait for cvs and amnio results is also about a week. But I could be wrong.

@MadeForThis thanks very much. I really appreciate the reply.

Hi @taraRoo I am in a similar position I have 1:100 risk of downs My screening was good but it is based on my age 42 and high beta free hcG 3.76mom. However I am having twins but no idea how much is for each of them (not helpful!) I have had NIPT twice and both times come back ‘no result’ so am waiting on 3rd (and final) attempt and if that is inconclusive again I will have to have amnio. It’s such a stressful time, one day I can just plough through and others I just want to hide. I feel your anxiety.
How did your test go? You should get your results next week shouldn’t you, best of luck! xx

Hi there
I'm in a similar position although my results are worse at 1:30
I'm thinking of a NIPT test too
Please let us know how you get on

Sorry your pregnancy has been difficult, and that this has come just as it was easing up a bit. I have been there and remember how hard it was.

I had similar results to you. NT was normal, PAPP-A slightly low and bHCG very high (4 MOM). I had the NIPT which came back low risk and I was satisfied by that. It’s worth being aware that, although a low risk result is very accurate, false positives are reasonably common, so even if you do get a high risk result, it’s not a definite until it’s confirmed by CVS/amnio.

My son has now just turned 1 and doesn’t have DS.

I meant to also say that my combined test result was 1:72

Hi @weivfgotthis what was your risk based on? It’s interesting to see numbers, I’ve read so much I can probably give more advice than my hospital did now
My harmony test (x3) should be back by Thursday, and I have the 20wk scan today all be it 2 weeks early. I’ll let you know how I get on. I’m not holding much hope on getting a result from the Harmony after reading more about the redraw issues.

Hello it's the origin poster here. I locked myself out of Mumsnet by mistake and had to open a new account. Long story.

Anyway, I got the nict back and I have a 1 in a million chance of downs. Very happy.

I thought I better post to let you know. I also searched mumsnet like mad last week looking for posts with similar odds/ situations as mine. Lots of people never write what happened.

@taraRoo that's great news! Hopefully you can relax and enjoy the rest of your pregnancy now!

@TaraRhu such good news, I had some yesterday too, both twins low risk for all 3 trisomys ❤️❤️❤️ Hope to read some lovely updates, we should keep this thread to keep in touch x

@TaraRhu amazing news congratulations

@Twinsat42 huge congratulations to you also !

My results were 1in 30 for all 3 main trisomies and 4mm NT
Currently awaiting the amnio as the cvs wasn't possible
I did have the NIPT privately so the results for that will hopefully come back soon x

@weivfgotthis keep strong it’s a hard time mentally to manage but I tried to spend time resting and keeping calm. Because the worst thing would be to get stressed and out your body into a bad place. Hoping for good news for you on the amnio, it is meant to be a better option than cvs xx

@Twinsat42
I have my bloods as well
Which were -
0.53 for PAPP A
0.37 for HCG
Both are lower than the average of 1

It's an anxious wait trying to piece it all together
The one positive from this time round is that when we went to fetal medicine for the cvs (which they didn't do) the consultant measured the NT at 2.5mm which you will know is within the normal range. So it hadn't grown bigger. He said he expected it to resolve by the next time I go for my amnio.

I have been here before with my first baby who had a cystic hygroma at 12 weeks scan and the prognosis was not good
We went through all the same process and testing (not the NIPT) and the CH had resolved itself by 15 weeks
Anyway I'm happy to say I have a very happy healthy 4 year old at school and thriving and it was put down to "just one of those things"
I am hoping for a repeat of last time x

@weivfgotthis I think a lot of the screening tests show possible issues that don’t give clear things, as an algorithm based solution it can be misleading and after talking to consultants a woman’s hcG levels can be personal and different in each woman, so having a median of 1 so strictly seems crazy in itself for that reason alone! Wishing and sending lots of positive thoughts and energy to you. Let us know how you get on xx

@Twinsat42 thank you x

@Twinsat42 congratulations. I'm so happy you got the results back and all is well. Xx

@weivfgotthis good luck with yours. I have everything crossed and hope you are coping ok with the uncertainty xx

@weivfgotthis when are your results due back? Thinking of you x

@Twinsat42
Nipt test results back as low probability for the 3 main trisomies , less than 1;10000
Which is great news
They haven't checked the sex chromosomes though which I have asked them to do (without revealing the gender!)

We have a scan and amnio next week so we just need to decide whether we will go for that amnio or not based on the nipt. It's a hard decision as they amnio does the full set of chromosomes. Even though I know these are much rarer

We can decide on the day though based on the scan and discussions with the consultant

How are you?