To NIPT or not to NIPT

[deliwoman1]

Hi everyone! Just wondering if I should just go ahead and get myself booked in for a NIPT at 10ish weeks.

I'm 39 in Feb, and have had four unexplained losses, including an ectopic this year. Does this mean I'm likely to come back high risk from the NHS combined test? I'm wondering whether it's smart for my mental health to just proceed to the more accurate test instead. Does that sound sensible?

I guess I'd like to be able to know if we need any next steps faster. My partner says, well, if the NHS test comes back high risk, then we'll get the NIPT, but why would I suffer a high risk result if I maybe didn't need to pay attention to it?

If the risk demands it, and I need amnio, I'd like to get that in as soon as possible because if I'm wondering whether I might have to terminate it's going to drive me seriously loopy.

Anyone having the same dilemma?

Its a personal choice - I am 38 and 25 weeks pregnant. I was obsessed i had blighted ovvum weeks 5-12 and then that there was something wrong with the baby generally. There isnt... pregnancy just makes me anxious!

I did some research and decided against it - i really urge you to read a few of the more of the detailed threads here and info elsewhere as i realised it wasmt going to give me what i want.

it isnt 99% accurate and isnt conclusive (just another annoying 1 in x statistic ) and can give false positives leading to needless amnio testing.

I made the choice not to test as someone who was fully prepared to abort if there were genetic issues (rather than someone who would keep the baby "no matter what") because the tests just arent conclusive

I had it and I would again. Yes it’s not conclusive but if you have that plus the NHS combined testing you cover a lot of bases. Also, where I am it’s cheaper if you have it earlier (before 10 weeks I think) and I thought that I probably would want to have it if I got a high risk result from the NHS tests (which you almost certainly will given your age), so may as well pay less for it and get the extra scan as a bonus.

If you are of a mind to terminate if a definitive Amnio/CVS comes back as positive and you can manage the £400 then I would have the NIPT asap. By the time you get the NHS results back from the "12 week" combined test you could be closer to 15 weeks gestation (if you don't get your NHS combined test appnt till almost 14 weeks as I did), then you have to wait for the NHS NIPT test and results, then wait for the Amnio/CVS... I was worried about how long it could take.

I wanted to know asap as I guessed I could be higher risk at age 40 and I really hate the idea of a late termination if I could avoid it, so I had the NIPT as soon as I could privately at 10 weeks (and got lucky with the results). Obviously if you would not terminate whatever the results, then save your £400 and decide closer to the time whether you want the NHS tests, simply for pre- planning purposes anyway (ie. to put extra research, respite care or financial planning in place).

I've decided against it and am going to go straight for an amneo.

My 12 week combined screening came out as high risk (1:54). Whilst it is a personal choice and everyone has different perceptions of risk I, personally, can't see the point in a NIPT test as it's not diagnostic. Another 1 in X result, however more accurate, is still not a conclusive yes or no. I think a conclusive yes or no is the only test worth having; but that's just me of course.

Funnily enough though, even at 40 I came back low risk on the NHS combined test, so wouldn't have been offered the NHS NIPT anyway! (I still had the combined test as I wanted the PAPP-A checked). So I'd have still ended up paying for a private NIPT (but at 15 weeks instead of 10), since it is more accurate and I'm a worrier.

I went for the nipt even though I had a low risk NHS screening. The nhs one isn't accurate and I wanted more certainty. I'm really glad now in my third trimester that I had it, because growth scans have thrown up some weird centile measurements. The Dr asked if I'd had it and was pleased as it makes any abnormalities much less likely apparently. It's given me a bit more peace of mind, even if I'm still a pretty worried waiting for my next scan

I did the NIPT on my twins but only because I'd previously done genetic testing on my embryos as part of IVF and all came back genetically abnormal but I had chosen not to test my twins embryos

I don't believe they take into account previous miscarriages when they give you your score on the NHS - I had 5 plus 2 ectopics and pretty sure they didn't ask that as part of the combined test

But to echo previous poster one of my twins had severe growth restriction and short femur length - the doctors said as my NIPT came back low risk for Downs etc then they weren't as concerned - had I not had the NIPT they would have recommended further testing

I am classed as high risk due to previous TFMR for spina bifida. This doesn't show on screening or blood tests and is usually discovered at the anomaly scan. I opted for the NHS standard testing and not the NIPT.

I will have an early fetal medicine anomaly scan and hope that it's not another poorly baby.

It might be worth checking but I'm not sure the NHS offers amniocentesis before about 15/16 weeks if that would be something that would influence your decision.

Thanks for your replies, everyone. I already have my nuchal scan booked for when I'll be 11 weeks exactly, which I presume is when I can also have the combined test, so I'll get that done first and see what happens.

Given I know there's a more accurate assessment of risk available it's likely I'll have the NIPT even if I come up low risk on the combined. I just don't trust it. If the NIPT is positive and contradicts a low risk result on the combined test I'll push for amnio, not CVS. I'm aware that likely won't happen until 15 weeks due to risk, but if that's what I have to do, I will.

I really wish amnio didn't carry a risk. If it didn't, I'd skip all this 1 in X risk bullshit and pay to have the definitive diagnostic test.

So if you’re high risk then you no longer have to pay for NIPT or risk NHS amnio - the NHS will now fund the NIPT. It was just a pilot in some areas but it was rolled out to all trusts on 1st July.

@deliwoman1

Just be prepared that if you are 11 weeks exactly at the exam they won't be able to the combined test - I believe the minimum is 11+5 or something like that - I know women who've had to go back to be scanned again

I had a ten week NIPT under almost identical circumstances.

No way did I want any more uncertainty. It’s not technically diagnostic but the difference is negligible, statistically.

I wouldn’t have terminated anyway but I wanted all the information and as quickly and safely as possible.

(Also, found out he was a boy at ten weeks. Bonkers but brilliant).

Thanks, @4amstarts. That's good to know. I'll raise it with my midwife as I did have a query about why the scan was booked so early. Possibly a mistake?

I also have a scan booked for when I'm 9 weeks exactly, so at least I'll have some idea of what's going on in there a bit sooner.