High Risk Down Syndrome Screening Results

[Olmiabel]

Hi, just looking for some advice or others similar experiences. I had my 12 week scan and combined screening with the NHS on Friday. I had a phone call yesterday to say that I’m in the high risk category with a 1/127 chance of T21 (Down syndrome). I had an idea I may be in this category due to my age as i will be 40 at EDD. My results show NT measurement is good at 1.2mm. HCG is slightly above average at 3.08 MoM and PAPP-A is slightly below average at 0.74 MoM. I already have 3 children and work full time so we had already decided that we would not go ahead with a T21 pregnancy. I was offered an NIPT via the NHS and have been in first thing this morning to have my bloods done. I am trying to remain positive and look at this as a percentage, less than a 1% chance of there being something wrong. It’s just hard not to worry when you see others receiving such low risk numbers from the combined test. We have a week to wait for the results now so will try to keep busy but just interested to hear others experiences. Thanks x

I declined the nhs combined screening tests for this reason.

I’m 38 and was told my results would very likely be high risk due to my age alone.

So we skipped and went straight for a private SAFE nipt test where we got results of 1:100,000 for all trisomies.

Good luck, although as you already know your results are still actually a very low probability of anything being wrong.

I’ve known women have results of 1:10 and still have things turn out perfectly.

X

1/127 is still a very low risk, if you consider 25% of pregnancies end in miscarriage. Just do whatever you need to distract your self this week and don't google things. Best of luck x

I had the same as you but when I was 29 with my first pregnancy - came back as 1:90 for Down Syndrome because I had the combination of high HCG and low papp-a (I think it was 4.5 ish HCG and 0.36 papp-a). My NT measurement was normal which I found reassuring.

Also had the harmony test and all came back as very low risk. The wait is horrible for the result even though the numbers are in your favour so just try to find things to keep busy with until then and I'm sure it will be good news!

I got a 1:51 risk with the combined result, when the midwife rung me she said I was already considered high risk as am 41 (think she said for my age the starting point is 1:70). NT is 1.8, I almost wish they had told me I'd be high risk at the 12 week scan so I could have booked the NIPT straight away rather than losing a week. I had the test done about 10 days ago and got the results on Monday. All came back as very low risk something like 1:250000.

Hope that gives some reassurance as it's a stressful time x

Thank you all so much for your replies. It’s all things I know deep down but it’s just nice to hear it from others for that extra reassurance. They remain so neutral in the hospital so as not to give any false hopes I guess, and I understand why, but it just makes you feel like you should be worried! I’ll be trying to keep very busy until next week anyway. Xx

My ‘chance’ of having a baby with Down Syndrome was 1:210 so I was not offered any further testing. When my son was born, we found out he has Down syndrome when he was 5 days old! It was a huge shock and we’ve had a lot to get our head around but we’ve had so much support and he’s absolutely adorable (now 5 months). I completely understand your worries and I really hope things work out for you but there is an amazing group out there if you did need any further help! Most hospitals don’t use the word ‘risk’ anymore and say ‘chance’ instead as we don’t see our babies as risks so you might see that word a lot more! Really hope you don’t have to wait too long!

Thank you so much. Wow, I have seen a few stories similar to yours and I think it proves how these tests really can be so far off the mark. Would be much more effective to offer the NIPT to people instead. It’s so lovely that you’ve had such great support. Thanks for sharing your experience x

The screening process wasn’t great at our hospital and my midwife didn’t discuss any results with me. I didn’t even know my ‘chance’ until I found out about my son! I wouldn’t change him for the world now but I completely understand all of your worries! I really hope everything goes well for you, I can imagine it’s a very scary time! x

I'd try and keep yourself distracted OP if you can.
A family friend was told after tests their baby would be born with Downs Syndrome. For similar reasons they spoke about whether to continue with it. They went for further testing privately where it was confirmed that the chance of baby having Downs Syndrome was actually very low xx

@Rainbowends yes the more threads I’m reading the more I see stories of peoples screening results being so far wrong or just completely altered due to other factors. There definitely seems to be room for a lot of improvement there anyway x

@FirstTimeMumma2021 thanks for the reassurance it is a worrying time but totally out of our hands now x

Hi.
I got 1 in 13 he was born 6 months ago absolutely fine. I opted for a 16 week scan to check for abnormalities. Im now 18 weeks pregnant and this one came back 1 in 89 had a scan at 16 weeks and they are telling me they can't see any abnormalities x

@Littlemissprincess01 thank you so much that’s reassuring to hear xx

I just wanted to provide an outcome on this thread because I know it would have helped me when I was constantly reading related threads on this topic for reassurance. I had my IONA test results (NIPT) back today, we were given the lowest possible risk for all 3 syndromes which is less than 1 in 10,000 and we are having a little girl. I was so relieved I actually burst out crying on the phone through sheer relief. My initial screening result was 1/127 for T21. For anyone coming across this thread, I hope in can provide you with a little hope that all will most likely be okay xx

Wow, that's great news. I'm 38, 39 at EDd and have a harmony test tomorrow. I've never had an NHS test as it's so unreliable.

I know two people who had very low risk outcomes and still had babies with ds. They're absolutely gorgeous and lovely kids but the shock and not being prepared effected them greatly.

My cousin had a 1 in 5 chance and she doesn't have Down Syndrome if this gives you any reassurance.

Just saw your update, so happy for you OP congratulations

Yes definitely, the more I read about the screenings the more I wonder what the point in them is. It’s obviously all down to money but i just think the NIPT would be a much better way to go for everyone really.

@luciles thank you so much ☺️

Fab news and you can relax now

So happy for you OP!

I agree, I would have gone straight for the NIPT tests has I have known this time around, rather than the stress of it all.

Thank you for the update. (And all the other positive stories). That's great news! Very happy for you.
I am currently waiting for our NIPT results. We were given 1:140 risk so trying to stay positive. Just feels like a long wait xx

@Choclover89 yes definitely! Already feels like a weight has been lifted! Thank you 🌸

@Missreginafalange thank you so much ☺️ I think this will be my last baby but you’re right I’d advise anyone else to go straight for NIPT if they’re able to. Just so much unnecessary stress with the combined screening a lot of the time, especially if you’re an older mum! 🌸

@starfishy wishing you all the very best of luck. I’m sure your NIPT results will be okay. Positive thoughts 🌸