NIPT

[Bail2000]

Hi

I was wondering if anyone has had a similar experience - I went for a private scan last week and NIPT.

Scan was absolutely fine, but I got a call saying the NIPT came back low risk for downs etc, but high risk for Turner’s syndrome. I was absolutely devastated and the doctor got me in for an immediate rescan - scan was absolutely fine and no markers etc, I’m just under 13 weeks.

the doctor thought it may be a lab error and we are redoing the NIPT. But I’m beyond worried and too scared to have hope.

Does anyone have experience of this? Thanks so much

hopefully It is an error. I know from when my friends baby had turners. They noticed right away from the 12 week scan that something was wrong as she had a 9mm NT. as your scan is ok then hopefully it was just an error. Good luck.

Thank you for your reply @RT1620 I am so sorry your friend went through that.

If the scans are absolutely normal, I’d hold my breath and expect the best. NIPTs do have false positives. However, I’d consider Amnio to be sure all is good.

Thanks @GingerFox2021 we would do that as well. It’s such a stressful time, hardly slept last night.

@Bail2000 by the way, I was in similar situation and asked if he can re-do the NIPT, but the dr said, even if 2nd time it comes back as negative, what to do with the 1st result which is positive/high risk. That wouldn’t have put my mind at ease and I thought that’s actually true. So, we did Amnio which came back clear.

@GingerFox2021 I actually didn’t want to redo the NIPt because I thought what are the chances it would come back low risk after a week. But the doctor wanted to redo it. I’d rather have just waited and done the amnio, because if the NIPT comes back high again it would make me feel even worse.

It’s incredibly stressful, I’m so sorry you went through this as well.

NIPT redraw came back positive for turners again. I’m not sure if this definitely means the baby could have it or if it’s just the same test that it doesn’t necessarily mean that. Absolutely devastated.

https://atm.amegroups.org/article/view/26999/html

The positive predictive value (i.e. the likelihood that a positive result is a true positive) of NIPT for Turner syndrome is only 29.41%, so 70.59% of foetuses with a positive Turner syndrome NIPT result like this will not have the condition. If you would choose to terminate a pregnancy that was affected with Turner syndrome then the risk is probably still high enough to warrant an amniocentesis, but the most likely outcome is that this is a false positive.

Thank you @pbdr - we would definitely do the amnio before we would make any decisions.

My worry is that as this is the second positive NIPT it may be more accurate.

Sorry to hear this but hopefully you can get some definite answers after the amnio x

NIPT redraw got done 5 days after the first one, not sure if we would’ve gotten a different result so soon after the first one.

Sorry you’re going through this 💕
When on this NIPT journey several years ago, I too read that it was only really effective for the most common three (Edwards, Pateaus, Downs) and the other conditions were a lot less reliable. You’re doing the right thing waiting for amnio. Keeping everything crossed for you.

@Bail2000 did they scan you this time, too?if the scans keep showing all good, there’s a hope. NIPT is mostly accurate for T21 and still false positive happens, it’s much less accurate for the other conditions. You might have a confined placental mosaicism where the abnormal cells are confined to placenta only and not the baby. Even if you did CVS, it would most likely mimic NIPT results as it tests the same placental cells. Amnio will tell for sure. I understand how you feel, wish you strength.

This happened to us. Very stressful pregnancy, all scans normal, blood test when dd was 3momths showed no turners. I don’t think they should be allowed to include that test. It’s really inaccurate. It will pick up changes in your dna which can
occur with age as well as the placental dna which may be where the dna changes are rather than the foetus. Happy to chat by message.

When my friends baby had tuners syndrome it was very evident on the 12 week scan with the nuchal fold fluid of 8.7
Really hoping all is ok x

@GingerFox2021 the doctor is scanning me again on Monday and then discussing next steps. But we will definitely do the amino. Part of me thought it would come back the same I just couldn’t think what difference 5 days would make.

@heartbroken26 i’m really sorry you went through that xxx

@Bail2000 how are you getting on? Xx

Hi all I just wanted to update this thread if anyone is ever in this situation. I had an amnio done and we’ve have gotten the results back to say she does not have turners at all, plus negative for other syndromes that are tested for. So the NIPT was a false positive for us, as many seem to be for turners!

We are beyond relieved and grateful.

I'm so pleased for you! Hopefully you can relax and enjoy the rest of your pregnancy now xx