Would you pay for an NIPT for these odds?

[CandleRigg89]

I’m 35 and just got the result of my triple screen back from the 12 week scan - Edward’s and Patau’s was very low but Down’s Syndrome was 1:678. Whilst still low risk, my son’s 3 years ago was around 1:3500 so I was shocked at how low it is.

Scan went well but NT was 2.7mm - still normal but high end. She did struggle to get the reading and said she went with the highest she got, but it all looked great to her.

Husband and I are in agreement that we would terminate a DS pregnancy, but our risk tolerances seem to be different. I feel that whilst those odds are 99.85% that everything will be ok are still ok, I’d rather the NIPT for peace of mind. My husband feels that 1:250-500 he’d do it, but thinks the risk is low enough as it is now and he’s comfortable there.

Just wondering what other’s take would be?

I'm 38 and just got my combined screening results this week and have a slightly higher risk than you. After much deliberating over the cost I've booked the private NIPT as well. It's going to be a week of extra anxiety but hopefully it'll be worth it to have peace of mind for the rest of the pregnancy. Hope it goes well for you this morning!

Yes it may cause anxiety but worth doing if you aren't planning on continuing a pregnancy depending on the results. Plus the results don't take that long.

I think you missed the point I was trying to make. A NIPT high risk result also needs to be followed up before terminating, as NIPT is still just screening, and in the worst cases getting an answer from diagnostic tests afterwards can take weeks. So NIPT, like any test, really, is not always a no brainer, it depends on the initial risk, which is what OP was asking. People should take this into account when deciding, instead of treating it like 99.99% accurate and a way to find out the sex early.

I’m so sorry you had that experience and all the worry . From what I understand, NIPT is 99.9% accurate and false positives are rare - but of course do still happen as you’re proof of. If we had a positive we would confirm with amnio or CVS depending on what was available for us, both of which are considered diagnostic, and then if confirmed proceed with a termination if confirmed. So for us, the risks of a false positive are outweighed by the fact we would terminate for a positive so it would lead to answers either way.

I think all testing comes with anxiety but to not do it isn’t realistic if you would make decisions based on the answers. I’d rather a few weeks of anxiety and worry to make a informed choice than a surprise diagnosis at birth.

Yes definitely worth it I think! The results should be available in 2-5 days so hopefully not a huge wait!

You just tell them you don't want to know

That's what I thought too, it's just that the few weeks of worry ended up being a lot longer than I thought. When you start looking into it there's always a chance NIPT can miss DS too, even CVS and amnio can miss things in rare cases. If you start testing more because the initial risk isn't good enough to reassure you, you've got to consider not only what you'd do if you're given a diagnosis, but also what will eventually be reassuring enough for you. E.g. if NIPT said high risk and CVS said all good, would you be able to relax? You don't necessarily know that until it happens to you. Of course I'm hoping you'll get a low risk result and be reassured, and that's far more likely, but every time I see someone contemplating NIPT for "peace of mind" I struggle not to say anything after my experience. (It'd be good for the advertising to explain what 99.99% "accurate" means too, even test providers don't always understand what that means. It certainly doesn't mean that a high risk result is 99.99% likely to be right.)

I really appreciate you sharing your experience, thank you. You have really good insight.

I have thought about this - we would terminate for a diagnosis and the only procedure that could ease worries fully if NIPT screened high is an amnio. But you’ve been the unlucky statistic. I have to assume that I’ll be in the majority of accurate reporting either way. If you always considered being the outlier there’d be no point in doing almost any screening ever! Could always be the one they miss with cervical cancer, or a false positive with breast cancer etc. I still think the screening is usually right, most of the time, and a valuable tool.

Just thought I’d add an update for anyone who stumbles across this with similar stats.

Got the NIPT results back today and everything was the lowest possible risk. So happy! Would very much recommend this test to anyone. Happy to have the relief but would also have appreciated the knowledge either way.

Congratulations OP! Just came across this thread but absolutely you made the right choice having a NIPT for peace of mind!

Hi OP,

I was in a very similar position to you only a few weeks ago, actually started a thread on here.

My odds were slightly higher but I paid for the NIPT test privately for reassurance. And that's exactly what I got! I knew it would play on my mind and I'd continue to be anxious so in mine and my husbands mind, £400 wasn't a big amount of money in terms of my mental health and the worry.

I'm now enjoying my pregnancy without any of those fears round Downs, Edward's etc.

Good luck 🤍

That's great! I'm so pleased for you! And really quick results too?? My bloods were sent off yesterday so I'm hoping to hear back by the end of the week

I am going to answer this question for you as I was in this position. T21 is a syndrome which like a lot of other health conditions has a spectrum. Some kids are born with it and are great/do amazingly (these are usually the kids you see on social media/publicly paraded about - look DS isn't all bad, how could you terminate a child with this). However what about the other end of the spectrum where the kids don't do well, have other health issues?
I had a TFMR for T21 in 2021. I was 39. It was my 3rd pregnancy. My little boy turned out to have a cleft lip, cleft palate, heart and brain issues among other things. I had him at 24 weeks.
The reason I say these things is that we as parents had to take our ages into consideration, the impact that having an ill child would have on future working prospects (with our baby, it was looking very likely that my working life at that time would be over if we proceeded to have him given the health implications), aswell as the impact of having a sick child and what it would do to the kids I already had, and the family unit we have as well as what way would the future look if us as parents were no longer here? Why should my other kids be obliged to take on a parenting role in that instance.
I know there are a lot of DS children that have no other health implications and they do very well in life. I think it is amazing for them.
I also agree with you that yes babies can be born with lots of things that we aren't aware about and that are not tested for. That is the risk of pregnancy.
However in our situation, we were given a choice and weighed up our options as a family and parents and termination in our situation was the best choice for us as a family. The fact that we were given a choice makes a difference. Everyone has different reasons and opinions about these type of things and thats OK.

Before being in this position I would have questioned termination, however once my partner and I sat down and discussed the options when we had results and scans in front of us, as well as having discussed the baby and the health implications with the fetal medicine specialists, we felt it was best for us.
I know everyone looks at these things differently, and not one of us will come to the same outcome for the same reasons. We will all have our own reasons to justify any outcomes and as long as you are able to do that when it comes to making decisions about these type of things then you have to do what you feel is right for you and your baby at that time. Its an awful position to be in and quite rightly a very good question that you have asked.