Screening results 1:611 for DS - anyone else?

[PointyMcguire]

Results came back yesterday following my screening at 13+4. Risk of Edward’s/Patau’s is an extremely low 1:100000 but our DS risk is 1:611 which whilst they say is still low, feels quite high compared to others I know and ones I’ve read online.

Unfortunately hospital only provided probabilities and not Papp-a/HCG levels so not sure what these were and couldn’t get hold of anyone yesterday to check, but from reading up I’m guessing it was my HCG that’s increased the risk (alongside age as I’m 35) as our NT measurement was 1.7, so within normal range and sonographer couldn’t see anything out of the ordinary on the scan. I’m wondering if my HCG could be slightly off as we had a miscarriage in January and what we assumed was a false positive/evap in March (tested the day AF was due, only for AF to arrive that evening which was unusual but figured it might be a knock on from the miscarriage in Jan) and then fell pregnant in April so never checked whether levels had decreased in between?

I’ve already booked a harmony scan as I’ve been incredibly anxious during this pregnancy and have found the uncertainty difficult to deal with (I know this will only give me a probability but accuracy is higher than combined test so hopefully will give us a clearer picture) but I was wondering if anyone else has had similar results and what the outcome was?

Hi OP, I had 1 in 635 for DS at age 30, NT was 1.2. I had the harmony test which came back 1 in 10,000. My son does not have DS. I wish the whole NHS would just offer NIPT (harmony) as standard. Hope you are able to get some reassurance from the harmony test.

Thanks @Sapphirejane it’s definitely made me question whether I’d go through the NHS screening again or whether I’d just skip straight to paying for a harmony test if we’re lucky enough to fall pregnant again.

I would still use the NHS screening as NIPT is not as accurate for Edwards or Pataus as it is for Down Syndrome I believe, and I am of the opinion the more information I have the better. I wish you the best with the rest of your pregnancy, it can be such a worrying time.

I went straight to NIPT privately this time around. The NHS tests are so inconclusive, especially if you're older. I just want to know exactly the medical chances of trisomy through DNA testing, not a weirdly skewed picture because I'm 41.

Hi @PointyMcguire 1:611 is still super low risk. I'm 39 and based on that and the Papp-a/HCG thing they gave me 1:125 or something similar. After the NT was seen to be fine they changed it to 1:250 I think. I paid for the NIPT and it came back as "no indication of DS".

I'm sure you will feel better once the Harmony results are in!

@ChagSameachDoreen yeah I find it hard to understand how the combined screening can give such different results to NIPT. Obviously I get they’re testing different things, but it seems almost irresponsible to universally use a system that can give results that are so wildly off and potentially cause unnecessary stress and anxiety.

@PointyMcguire - NIPT is relatively new and as with lots of things the NHS is slow to change, although I believe some areas now do offer the NIPT on the NHS. There is also the underfunding of the NHS, especially women’s health services and NIPT is more expensive. It’s crap sadly.

@Flederjo I know, I know and I feel ridiculous for being so stressed about it. Like I said to DH last night, if someone told me I had a 99.84% chance of winning the lottery I’d be working out how to spend my winnings, so I do get it’s low in the grand scheme of things. It’s just hard as you usually hear of people getting results in the 1000s so seeing one in the 100s after everything else seeming so positive took me by surprise.

Really glad to hear you got a reassuring result with the NIPT, hopefully we’ll have the same next week.

Yeah I get it, it’d be nice if as a matter of course we were given the option to pay for NIPT in addition to the screening, but I get that’s probably unrealistic. I’ve been fortunate enough not to have much exposure to the NHS until this year. It’s definitely been an eye opener seeing just how underfunded women’s services are.

My results were 1 in 95 for DS after my 12 week scan last year. I had NIPT on the NHS which came back as low risk. My baby does not have DS. I hope everything goes well for you

Thanks @BabyMoonPie glad things turned out well for you. It really helps hearing from others who’ve had similar or higher screening results.

Just to show you how your results for Down’s syndrome can change as you get older, my risks were

dc1 aged 22 was 1 in 100,000
dc2 aged 27 was 1 in 55,000
dc3 aged 29 was 1 in 33,000

Currently pregnant with dc4 aged 32 and it’s 1 in 11,000

As I have aged my risk has increased a fair amount each time (not the best at maths ur say doubled 🤷‍♀️) but still low risk…so say I was to have another in 2 years (absolutely not going to 4 is plenty!!) then my risk would probably be something like 1 in 2000 say another year after that 1 in 1000 etc these are still low risk. Your risk is still low albeit not as low as some other peoples. My friend got a high risk result from nhs combined test, her baby was born perfectly healthy x

@PointyMcguire I'd see if you can get the HCG and Papp a values. It also depends on what your actions would be if you found out your child had ds. Would you tmfr?
We would have (personal decision for any hate) so we got the NIPT before we had the 12 week screening as we wanted to know asap. My NT measurement was 1.7mm and I'm 34. Both sets of values came back low for me also

@PeanuttyButter I’m going to try and get hold of someone on Monday and see if I can get those figures as I think I’d feel better being able to see their workings out so to speak and understand how they’ve reached that result. I honestly don’t know what I’d do if they were positive for DS, I think ultimately if the harmony test comes back as higher risk we’d push for amnio and go from there.

@PointyMcguire it's never going to be an easy decision. It could be that your Papp a has driven your risk up but as others have said those odds are still really good.

Thanks @Jaaxe I get they reduce over time, I think I’m just struggling to understand how our number is in the 100s when older friends of ours have still been in the 1000s. So even though it’s low risk, it still feels high risk comparatively x

@PeanuttyButter true, I think I’d assumed it was my hcg that was driving up the risk as my risk of Edwards/Patau’s is so low but who knows. Hopefully I’ll know more next week.

@PointyMcguire I just thought Papp a as we are similar age, same NT length, my Edwards risk was the same as yours.

@PeanuttyButter ah ok, that could be it then. What were your values and what was your DS risk if you don’t mind me asking?

Mine came back at 1 in 152 with dc2 which was a surprise as I'd had 1 in 17,000 with dc1.

No extra testing here and I didn't worry as I was still low risk.

The downs chance always seems to be higher than the others - my edwards/pataus was something like 1 in 100,000 and downs was 1 in 8000ish. You can have the NIPT if it’s going to bother you for the rest of your pregnancy. But 1 in 600 is very low, not even 1%.

I so wish I could be like you, the miscarriage in January feels like it’s robbed me of any enjoyment this pregnancy so I struggle to rationally assess the risk without catastrophising.

I know you’re right @Wouldloveanother if it were anything else with these odds I don’t think I’d think twice about it.

I understand your anxiety as I also have it, I try to think ‘what would I think if someone else told me X or Y about themselves, would I worry about them?’ If the answer is no I try to let it go. Objectively, it’s a very tiny chance - but if it’s going to cloud your pregnancy you can get the blood test then put it behind you 🙂

We had a 1:80ish (can't remember exactly) so got the NIPT done and that came back about 1:40000. Baby does not have DS.

With your statistics you've been given I personally wouldn't worry at all, that's verrrrry low odds.

I suppose it depends on what you'd do with the info, is it for info so you can be prepared either way or is it a matter of being unsure whether you'd continue with the pregnancy?