Failed NIPT, twice, very worried

[LillyLeaf]

I had my first test at 11 weeks then 14 weeks, both there was not enough fetal DNA. In between I got my combined NHS results back at high risk with 1.98 for downs, nt was 1.5.

I don't know what to do next. I ideally don't want to do the amino. This is an IVF pregnancy and after 2 miscarriages I don't want to add further risk of miscarriage. Although it looks like I'll have to do it to get any answers. Any experiences?

It really depends if your decision to keep/terminate would change depending on if the child has a chromosomal issue. If you will keep the baby either way, then I don’t see much point doing the Amnio because of the slight risks.

I would make the decision if I needed to but I would still want to know. Have you had experience of this?

I’m afraid I don’t have any advice - I just wanted to send my love. I have seen you on other threads on the infertility boards and I’m so sorry you are having such a tough time.

As the previous poster said, it’s such a tricky decision but I imagine it comes down to the question of whether you would continue with the pregnancy if there were chromosomal issues. I think for me although there is a risk with amino , I think I would have to know-but it’s so personal and I really feel for you,.

Wishing you all the best.

I'm so sorry you are in this situation. Nobody can tell you what to do. However, if it was me, I would probably do the amnio. Couple of reasons

1. would either give me peace of mind or give me the relevant info to better prepare for what's next.

2. the risk is indeed relatively low (think

Is there an option of having a 3rd NIPT? Was it private or on NHS? Esp if private, I'd ask whether you could have a refund or a 3rd go, considering it didn't provide an answer. Did they say why it failed twice? Could there be another reason for not having enough foetal DNA?

Agree that you need to discuss with partner what you both feel about the future and what you'd do? We paid for NIPT at 10 weeks, and discussing what we'd do if we got bad news helped a great deal when we had to make very difficult decisions with our results.

hi @Lillyleaf

Whilst I haven't been through this personally I do know people who they have failed a couple of NIPT - apparently you're more likely to get no result if it's too early for the test, for larger women or randomly if it's an IVF pregnancy (really not sure why that would matter?)

In those cases they opted for the more invasive amnio as they had already decided they wouldn't progress with a pregnancy if there was chromosomal issues with the baby.

This was a PGS tested embryo wasn't it? What about the company who did your PGS testing - is there anyone there who might be able to talk you through it? did any of your other embryos test positive for DS?

No I don’t have any personal experience myself OP, I just know my mum had a friend that went on to have an Amnio after a high risk result, and she ended up misscarrying. There was nothing wrong with the child either when the results came back.

So, in your position, I really would be scared to do the Amnio unless I was sure I wouldn’t keep the baby if it had any problems. Personally I think I would still keep the baby though.

Isn't your NT within normal range? I thought it was greater than 1.9mm that the likelihood of DS was highest?

If your risk is 1 in 98 with such a low NT, I wouldn’t panic just yet (although obviously some babies do have DS with a low NT, but that much less likely).

Chat to your consultant as I believe the amino miscarriage rates includes the miscarriages of babies that would probably have miscarried anyway due to chromosome abnormalities, so aren’t necessity caused by the amino. The rates will also vary depending upon the consultant and their expertise.

Thanks @mouse1234567 I'm changing my mind a lot, I just don't know what to do, although I haven't spoken to the midwife since the 2nd failed result so maybe she will advise.

@Lalla525 the risk does seem low but I've had such crappy luck with everything I'm usually that 1%.

@Elouera I could do it a 3rd but the lab think it will just be the same non result. I do get a refund. I was thinking about trying a different company but I don't know. It was private. No real explanation. I'm not over weight which can sometimes give a non result. And abnormalities can give have less fetal DNA, so that's another reason why I'm stressing.

Hi @LillyLeaf, I think I'm on the due July threads with you. Sorry you're having a crap time with the NIPT results. If you don't want an amnio and I fully understand why you don't, I'd be the same, would booking a full health and well-being scan privately be any good? Are far enough along where abnormalities could be picked up in a scan maybe? I've heard some couples talk very highly on the fetal medicine center in London.

@lilyleaf how far on are you amnio can't be done till after 15 weeks by then your risk of misscarrige is alot less it's CVS they do before 15 weeks 1% is the national average check what your consultants is I had mine done at Jessops and his was less than 1% he hadn't had a misscarrige in over 5 years just remember these consultants do this day in day out. But the amnio would give you the answers your looking for I had an nt of 4.5 a 1:25 chance of downs and a 1:40 chance of the other two all my results came back completely fine had to go to Leeds for a heart scan as that can cause high risk but that was all fine too if you have any questions about the amnio please ask x

Hi @itwasalovelydreamwhileitlasted hope you're doing ok.

Yeah I did read a non result can happen with IVF pregnancies, no idea why. My BMI is good too.

Yes this is my one and only pgs normal embryo. My fertility Dr said you're more likely to get a false negative than false positives with the pgs testing. It's hard knowing pgs is not 100% accurate. None of my other embryos had Downs.

And yes I thought my nt was really good but I've still got a high risk. Obviously my age, now 37 increases that risk too.

@FuzzyAtmosphere thanks, I do need to discuss more with the midwife/consultant. It does seem the amnio risks are lower than first thought.

Just an idea but maybe you could consider a private scan/consultation with a foetal medicine specialist? The Foetal Medicine Centre on Harley Street is excellent and they have fantastic equipment there. They can look for soft markers which might provide some guidance.

@pottypotamus hi, I stayed away from the July thread as I didn't want to bring everyone down being miserable as everyone else was getting good results.

I don't really know if scans can detect these abnormalities, I will ask when I speak to the midwife (hopefully tomorrow).

@Mummylanie3 thanks, I'm 15+2 today. Could I choose who does the amnio and at what hospital? I'm not really worried about the actual procedure, I've been through IVF which is incredibly invasive. It's great you got a good result. How long did you wait between the amnio and the results. I don't think I can cope with more waiting, I'm getting very stressed.

@LillyLeaf the waiting was the worst bit but I had the amnio Monday got first set of results Wednesday which was for the 3 main tristostomys and the sex then the full report comes about 2 weeks after

I'm so sorry you're going through this.
I've not had a failed NIPT but I have had a NIPT and an amnio. If you have any questions x

I'm sorry you're going through this.

I think only have the amnio if you're sure you would terminate if your baby has DS. Otherwise it's a pointless risk.

So sorry you're having to make such tough decisions - I recommend reading the book 'Expecting Better' by Emily Oster. In there she looks at all of the evidence and concludes that the risk of these invasive tests is actually much, much lower than is generally reported. The figure of 1 in 200 procedures leading to miscarriage is decades and decades old, and the procedure is so much safer now. Despite this, doctors continue to use this figure.

The other thing you might find interesting from the book is that as you get older, the chance of a false positive from non-invasive screening goes up massively. If you're young and you get a bad result, it's much more likely that your child has a condition than if you're older and you get one. This is because the calculation takes your age into account which increases your figure massively even if there's nothing wrong.

At the end of the day, you probably need to decide this based on how you would react if you found out your child had DS. Personally I wouldn't terminate, so I wouldn't take even the tiny risk of a miscarriage. But if you would terminate then you might feel that the benefit of being able to make that decision outweighs the tiny risk of losing a healthy child.

I would also say make sure to ask the questions because DS can vary massively so you may be thinking you will terminate and it could be a less noticable form of DS or the opposite.
When we had our amnio it seemed that the risk of miscarriage tended to be more babies who were unlikely to make it to term anyway and therefore the amnio may not actually have been the cause.
As it was in our case our baby was very poorly with a very rare genetic condition and the amnio caused no problems. Though I did have a TFMR.

Good luck with everything @LillyLeaf
Don't feel like you have to stay away, the ladies will be incredibly supportive xx

@LillyLeaf Hope it is ok to ask for an update. I am 15 weeks and just had my second NIPT fail. I am freaking out. NHS NT test and screening is taking 4 weeks so I have another 2 weeks to wait. Did you have the amnio in the end. Like you I don't want to do that because of miscarriage risk. Because of my age and previous mmc this is the last chance as we won't try again. Took ages to get pregnant after mmc too. I do have a high BMI so hoping that is the case rather than the high risk of a chromosomal abnormality. The waiting sucks. I am going for a 3rd redraw on Thursday

I'm so sorry you're going through this, it's incredibly stressful. After my 2nd failed test I had a very detailed scan with a consultant at 16 weeks, he was very happy with what he could see and together we decided against the amino. Later the following week I got a call from my clinic that had done the NIPT, they had given me my first result twice, and my actual 2nd result had just come in and was fine. So much stress over nothing, I'm so pleased I didn't go through with the amino. I would advise speaking to your midwife who can refer to for a consultant scan and also try for the 3rd blood draw. My 2nd blood draw still had low DNA but was just enough. Good luck.

Thanks @LillyLeaf. I am so glad everything was fine for you. It is so stressful.

I am in Scotland and we don't do the NIPT test on the nhs so it is a private company. I am still waiting the NHS results and chased my midwife on Friday but no reply yet. I will tell them it has failed twice. I am getting a detailed scan at 20 weeks for other reasons with a consultant doing it. Can they tell DS etc from an ultrasound? I really don't want the amnio. I am onw of these people that things are never straightforward for lol, and I have a large belly so worry my mc risk will be higher too.

Having 3rd redraw on Thursday. I did google last night which was a mistake but apparently blood thinners are another reason it fails and I was taking aspirin for my 2nd draw. My very first gesture apparently did have enough fetal DNA but failed one of the 77 quality markers (no idea what that means) none of the other 3 had enough. Crossing fingers and waiting for NHS one too but I am expecting it to be high because of my age.