Low combined 1 in 183, considering NIPT

[zarah21]

Hi all,

I'm considering NIPT, in fact, I've been wrecking my brain for weeks over it and feeling stupid that I haven't sooner.

Had combined screening at 13 + 5. Results came back;
DS 1 in 183. (Age related risk was 1 in 144)
Ed/patau 1 in 562 (age related risk 1 in 974)

I'm 39, so added age related in.

NT 2.80mm (1.46 corr MoM)
Hcgb 0.64
Papp-a 0.42

Not quite sure what all the above mean, asked midwife to explain, she just advised go private if worried. I asked consultant he just said you are low risk, save your money. Again no explanation of the above stats.

Since going down the rabbit hole on here, seeing false low combined results, and knowing I'm just outside of extra testing on NHS, I'm thinking of going down NIPT route. Which I know not 100% accurate, gives reassurance.

I'm just boggled by all the types. I contacted thisismy... they sent a full on spreadsheet, stats etc i was just going to have the £250 one, Prenatest but it is solely for DS, as the sales bod later confirmed on call. I thought suffice but maybe I'll do just the 3 trisomies, I just don't know where to draw the line, if that makes sense?

This is dc2. So I have ds1 to consider in any decision which is why I need more assurance i guess. I'm almost 19 weeks now, so the timeframe is on my mind, along with baby now wriggling and being very present.

Gosh, sorry to write an essay, I've been stressed for weeks.

Any help, advice, experience greatly appreciated please. I'm Leeds based, for testing advice.

Can I check, if the worst happens, I have a nipt high score, can I go back to NHS? How does it even work?

Yes, the NHS will continue your care if you get a high-risk NIPT.

With your results I wouldn't have bothered (I got a much, much higher risk result, ds2 was fine) as my PERSONAL cut off for further testing was 1:50, but you need to do what's right for you in your circumstances.

The testing doesn't give false positives/negatives as such. It just gives you a risk level. The NHS considers your pregnancy low risk.

If you can afford the NIPT then there's a high chance that it will give you peace of mind on this issue.

I’ve had 2 pregnancies with a high chance result of DS from the nhs screening (1:29 and 1:2). I would recommend speaking to ARC (antenatal results and choices charity) who will break down what the numbers mean for you. Generally speaking, the closer your hormone/NT numbers are to 1 MoM the lower your chance will be. Your Papp-A is lower than average at 0.4 which can raise the chance, and your NT is slightly higher than average I believe (although still normal). I was told that even one number being slightly off can raise the chance you are given, especially if you are “older”. It definitely doesn’t mean your baby will have any of the conditions though, it’s just an algorithm they use that is not very accurate and causes a lot of unnecessary stress ( in my experience anyway).

Your chance from screening is actually reduced from your age related chance and, as you’ve been told, isn’t considered high enough for further testing on NHS. It’s a less than 1% chance of your baby having DS - almost a 0.5% chance. If I was in your shoes I would be happy not to have further testing and just crack on but obviously this is personal and I have experience of being much, much higher chance than you (I’m 38).

For reference, Natera Panorama NIPT with the 1:2 chance (as we were going abroad the next day and I didn’t want to wait 2 weeks for another test) and it cost around £500, and looked at a number of other conditions as well as DS. But in honesty it hasn’t reassured me that much as there are other things it doesn’t test for - it’s hard to know where to draw the line, as you say, with what you test for.

Thanks @Bloodystressed1 when are you due? Are you happy with your panorama result? I hope all works out for you.

Thanks for taking the time to respond, and explain my results somewhat, it does help, its more than the midwife or consultant shared and well, I'm exhausting Dr Google and not understanding a lot. Will reach out to ARC, thanks for the rec. Xx

@zarah21 thanks - my panorama result was low chance for all, including DS - but I’m not that reassured this time, due to how high the nhs screening chance was. False negative nipts do happen and I wonder about that - I’m now 34 weeks, no other signs of DS on scans (but I’m told there wouldn’t necessarily be any markers visible) so I’m just waiting and watching until birth now. Wishing you the best of luck with it, I found ARC really knowledgeable and lovely so do give them a call. X

Hi ladies,

Coming back to say I had the NIPT, I googled to the nth degree %s and all the data but was boggled. My midwife couldn't endorse any test, just said go for the 3 trisomies only. When I told the sonographer I wasn't sure which to go for, she said go for the Nifty, most women do, and got me the form.

I'm now that woman, sat here, regretting that I didn't request prenatalsafe given that its UK based, 2-5 days turnaround. Even though I mentioned it to them, they said they have been working with Nifty the longest.

Really, they didn't take my gestation (19 weeks) into account and if I am high risk, I'm going to struggle to get amnio in time to make an informed decision.
They even mentioned, "oh you can take this test up till full term" but of course, it a person would TFMR then that's not helpful.

My blood is en route to Hong Kong, and I feel like an absolute idiot to top off the state of my mental health right now.

I'm just hoping, that they get the results first time round given my gestation, hopefully there's enough placental dna in my blood.

God, this is really affecting me.

I wish you well - the waiting is the absolute worst (my experience with the period after amnio), with you feeling like your in limbo with both eventualities going through your head constantly.

Logically, I'm sure you know that by far and away the most likely outcome is good result, but that won't help right now. Every day that passes is a day less to wait though.

What I would say is, if you do get a good NIPT result and you still feel a niggle of "but what if?", maybe talk to someone about antenatal anxiety because testing can be one of the areas the we really fixate on when it's actually a symptom of something else (not say at all that you do at all, but just in case).