Anyone's CVS / amnio contradict NIPT?

[a13169]

My combined screening came back with a 1/9 chance of down syndrome. I had low papp-a, elevated hcg levels but NT was normal. I'm 40 so age also a factor.

We opted to have an NIPT which also came back higher risk. I then had a CVS and we are currently waiting for the results.

I'm trying to manage my expectations as we've been told to expect the CVS to confirm the previous results but I wonder if anyone has had a CVS which said the baby doesn't have down syndrome after a previously high risk NIPT? I can't help but try to be positive but can't find any examples of the NIPT being wrong for down syndrome when I search through this thread.

Bump

I don’t have any experience with the NIPT being inaccurate. I had the NiPT recently as my baby came back high risk for downs, I was told it was a screening test but that it’s normally accurate for downs (less so for other conditions), the midwife informing me of my options said she knew of one case where the NIPT had been wrong for downs, but it is rare.

I can’t imagine how stressful this is for you, there is a charity called ARC who can help support you through this time.

I don't recall results but my DC2 was high risk - maybe 1-50
My Age was a big factor.
CVS is accurate. All was ok and he'd now s healthy teen.
We weren't stressed as we were clear what decision we'd make

Sorry you are going through this op. I am currently waiting for my NIPT results which should be through early next week. Like you my hcg was high and papp-a low with a normal NT. My odds were higher than yours so I don't hold too much hope ☹️

We have decided not to carry out further tests. We will base our decision on the results from the NIPT. I am already 15 weeks and I can't bear the thought of carrying on longer, this has come after years of fertility problems and two miscarriages. It's a very bitter pill to swallow and I so sorry that you are in this situation. There is always a very slim chance that the NIPT is wrong so I don't blame you for hoping.

@ThirtyEight38 thank you for the reply, I will check out that charity

@Marchsnowstorms oh so glad it worked out for you

@onelostsoulswimminginafishbowl I'm so sorry you're going through this. I have seen on here plenty of people saying they had a higher screening chance than me who ended up being low risk for NIPT. I really hope it's the same for you. I completely understand you not wanting to go further after the NIPT. I'm almost 15 weeks too and it feels like torture getting so far and feeling so attached to the baby already. Not to mention I've been showing for weeks and it's so hard to hide. I wish you all the best, hope your results come soon Xx

Hi A13169,

I hope you're well. I just wondered if you had a positive result from your cvs? I'm in exactly the same position as you. Im approaching 15 weeks tomorrow and my NIPT came back higher risk for Down's syndrome so I've done the cvs and awaiting the results next week. I was told exactly the same, that the cvs is really just going to confirm the same result as the NIPT so I'm just preparing myself for that but still trying to search for any stories where the cvs had a different result to the NIPT

@MrsOptimism hi I'm so sorry that you are in this position, it's so so horrible. Our CVS confirmed it I'm afraid. When I did some research into it during the wait it seemed like it only really contradicted it if there was a twin that died that had downs and their cells were picked up instead of the healthy baby. So very rare. I'm really sorry but I think you should prepare yourself for the worst. We ended up having a termination - it was the hardest thing I've ever done. I was also 15 weeks and so bonded with the baby already. I hope you get your results soon - ours came back earlier than they said it would. Sending you a great big hug Xx

@a13169 I know exactly what you mean. Every time I look at our baby on the scan, moving around so much and has perfect measurements, normal NT, nasal bone present it just seems surreal that every test is telling us they have Down syndrome. I keep holding my bump and really want my baby but if T21 is confirmed, like you, we unfortunately we will proceed with the termination.
I’m so sorry you went through this too and I just really appreciate the reply and support - thank you xx

@MrsOptimism hi I hope you don’t mind me reaching out to ask what your cvs results were please I’m going through the same thing currently had a high risk NIPT returned for Down syndrome and have an amniocentesis scheduled for Friday x

@Ash2345fI’m so sorry that you’re going through this. Unfortunately for me, my cvs result confirmed that my baby had Down syndrome do we sadly made the decision not to continue with the pregnancy. Everybody’s experience is different but I needed to take a year out to just grieve my baby girl as I didn’t have any room to think/feel for anything else but her for a while. Then once the first year anniversary passed, I felt ready again so we tried, got pregnant, did another nipt which was all clear and our baby girl was born 6 months ago.
I suppose the reason I’m saying all this is that at the time, I was devastated and couldn’t see any light at the end of the tunnel. Now, I always think of my little angel everyday and have a memorial plaque at home for her but I also did get my rainbow baby afterwards when I felt ready.
I truly wish you all the best, regardless of the results or what you choose to do, just look after yourself

@MrsOptimism Thank you so much for sharing your update, I’m so pleased to hear you got your rainbow baby 💕 It’s given me some hope during a very difficult time x

@CurlyleopardNo problem at all. I’m happy to help in any way I can, even if it’s just a bit of hope for the future. Wishing you the best through such a difficult time xx