1/25 chance of downs and low PappA result on screening

[Babydingle]

Hello,
I've just had my screening results and it came as a bit of a shock.
I'm now trying to decide what to do next. I think for me and my partner, it will be too much to just wait it out. I feel we need to know.
I'm scared of the diagnostic as there is risk, but I suppose there is with anything really. 0.5-1% risk of miscarriage.
I suppose the odds of downs are 4% having downs to 96% chance of being absolutely fine.
Has anyone else been in this situation who could possibly help put my mind at rest?

Have you considered a NIPT like the harmony test? Not diagnostic but more accurate than standard methods. The antenatal results and choices helpline are a great resource.

Yes, they did give me that option. It's still just a chance thing though isnt it?
Have you used this personally?

It comes down to whether you would choose to do anything if you knew the baby had Downs. If you would then amnio will give you the most accurate result. If you wouldn’t but would like to be prepared then the NIPT option is non-invasive but much more accurate than the NHS screening.

Thank you!
My heads been a real mess today.
Sounds silly, I opted for screening but didn't really imagine getting a high risk.
Thanks for your responses.

Hi @Babydingle. Sorry you are going through this. My screening results came back high risk (1 in 45 for DS) it was such a shock and a very stressful time. My high result was down to my age (34) and very low pappA my NT measurement was fairly low. I opted for the harmony test which came back low risk. It isn’t a diagnostic but if it comes back low risk then it’s very reassuring and it’s much for accurate than the NHS screening test. If the harmony test came back high risk then I would have then had a diagnostic test to confirm because although although a low risk means it’s very unlikely to have DS a high risk doesn’t always mean the baby has DS.
My consultant said that I should be very reassured with the results and I have since had a 20week which was fine and didn’t show any soft markers.

I had a 1 in 30 risk of DS, mainly due to high NT measurement. Consultant advised me to have the nipt rather than cvs as there would be no risk to the baby. Nipt came back as low risk as it’s a waiting game now. I’m still not convinced things are ok as I now have Polyhydramnios which can also indicate genetic issues.
If your scan looks ok (they can look for soft markers for downs on a scan) I would go with nipt first.

I personally wouldn’t have the Amnio If I intended on keeping the baby either way (which I feel like I would if I was in these same circumstances). But I would try and prepare myself better by getting a NIPT, as this isn’t invasive and might help peace of mind!

I had a 1:20 down 1:80 of the other two I needed to know as with certain chromosome abnormalities I wouldn't have continued the 1% is the national average ask the consultant who's doing it what his odds are but remember they do this day in day out I had to go to a different hospital for mine done the waiting for results was the hardest part but it's the only test that gives you a yes or no answer anything else is just odds the way I looked at it was 1 in 10000 or 1 in 10 someone is that one and I needed to know. My results came back all clear and I found out I was having a girl got the full report 2 weeks later and she was clear of everything also had to go for a heart scan as that can cause a high result again that was all clear. I wish u best of luck and just decide what's best for you xx

I had a 1/53 risk of Edward's from the NHS screening and had the harmony NIPT test. Which gave a 1/10,000 chance! So yes, it's still probabilities but a very different result with no risk to the foetus. If I am ever lucky enough to become pregnant again I will go for NIPT instead of the standard screening because waiting for the results was tough! I think it's quicker now though. DS is absolutely fine though for me the low PAPPa (0.16 MoM) was a possible early warning sign for the pre-eclampsia I later developed - worth exploring whether low dose aspirin would help to reduce that risk.

I had harmony 5y ago with my DD and again this year, at 10w, currently 18w pregnant. My nhs results were 1 in 19 for downs due to my age, 45, it was then adjusted after the blood test to 1 in 387. Harmony came back as less than 1 in 10 000. I know it's not 100% but i felt better. It is expensive but best £400 i've spent.

Wow thank you all SO much for your responses!
This has really helped me A LOT.
I feel a lot calmer.

I will keep you all up to date.
Again can't thank you all enough.
This has helped me so much.

I’m going through the same but with results from my quad test. I’m 35 and they put me at a 1 in 9 chance due to my HCG levels being higher than normal. Wasn’t able to get the NT measurements at 12 week scan due to the baby not laying right. Had the harmony on Friday awaiting the results now. Very nerve wrecking! Xx

Hi. I'm currently waiting on my NIPT results. Our screening came back as 1/65 chance of DS. I'm 34 and also had low PAPP-a result. I didn't feel like the screening results were explained very well by the screening department when I got the phone call. I spoke to the antenatal doctor about it all and she advised that we should try the NIPT if we could afford to do so. I felt a lot more reassured about its accuracy. I just didn't want to put my baby at risk by having the diagnosis tests if we could get a more accurate screening result. All the scans and measurements are normal within cause for concern. It's a tough time whatever choice we make.

Good luck to everyone awaiting results either from amnio or NIPT. I was in a similar position before Christmas when my combined test came back as 1 in 13 basically because of my age (40 at EDD) and low papp a (0.37) and high hcg (2.0). The sonographer talked me through the options and we decided to go for NIPT as the nuchal measurement was within normal range. Had it have been high we'd have gone for amnio. Got a 'highly unlikely' result and all scans (20, 23, 28 week) scans have been clear. When deciding to do amnio or NIPT remember that amnio is the only truly diagnostic test you can take. I have struggled with not knowing 100% and part of me really wishes I'd had amnio for absolute peace of mind, but at the time the thought of an invasive procedure was just too much. ARC are a wonderful charity and I've spoken to them when I've had wobbly moments. Keep posting to let us know how you get on..

I did NIPT after a high risk result, also low PAPP-A.

DS us now nearly 18mo and no issues.

I was immediately put on low dose aspirin and had growth scans at 28, 32 and 36 weeks, which ironically showed him sitting on or around the 90th centile for head/abdomen.

We had a couple of reduced movements episodes and induced at 38+2 at least partially due to size compared with my 25th centile 1st born who had needed a ventouse.

Glad we did as he wasn't small, and definitely has rugby player shoulders!

There's also the 'Low Papp a Pregnancy Support Group' on Facebook which is well worth joining. When you've been through the testing and 'only' have low papp a to worry about this group is a great source of knowledge, support and reassurance. If like me you've never heard of low papp a or anyone with it it's been a great place to share worries.

Hi guys just an amazing up date. The NIPT results came back 1 in 1000000 to all three! Were so happy. Crazy the margin for error on the NHS screening. Best money I've ever spent.

That's great news. 😊😊😊😊😊

That is a ridiculous difference from the NHS one! Xx

I know. Makes me wonder why they even do it. Unnecessary anxiety and stress caused for no reason.
I'm just so happy to hear that baby is absolutely more than likely absolutely fine. :) xx

Different testing mechanism. The NIPT is more expensive and looks for fetal DNA in your bloodstream to analyse. When it's less new (and prices drop) I assume it will become generally available on the NHS.

The standard test is based on Nuchal Translucency (which can be a marker for other issues) and various pregnancy specific hormone levels plus maternal age. The hormone levels are worth testing as low PAPP-A at least is associated with pre eclampsia and poor growth/placental failure - so once we had a clear harmony and 20 week scan the routine growth scans were booked in straight away!

My first pregnancy was very low risk from the NHS test.