1:10 chance of Downs Syndrome: Edit: I just wanted to... - NCT

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1:10 chance of Downs Syndrome

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Edit: I just wanted to update with my nipt results, they have come back as low risk for Downs Syndrome. It's such a relief to finally have the results as the waiting was very stressful! Thank you to everyone who took the time to respond, reassure me and share experiences, I really appreciate it!

Hi, I'm hoping for a bit of a handhold or maybe some people can share their experiences. I'm 36 years old and currently 14wks pregnant after my second round of IVF(ICSI). We had a scan at 13+1 and got told everything looked fine. However, we have now had a call to say my blood tests put us at high risk for Downs Syndrome (1 in 10 chance). The NT measurement was 2.5mm, my HCG was high and PAPPA was low. We've taken the NIPT test and awaiting results early next week. I feel completely devastated to have got this far and now having to deal with this. I really thought this time was going well for us, I feel sick with worry waiting for results. Thanks for reading.

22 Replies

I don't really have any advice, just wanted to send you big hugs. While no one would choose this, I know some families with Downs and there's so much joy and love so hold on to that - and 1 in 10 is still 90% it won't be that outcome xxx

Thank you, I only know a little bit about Downs Syndrome but I know it's not all negative. I think it more the waiting for the results and the thought that something might be wrong but not knowing what that will be yet that's upsetting me at the moment if that makes sense. Once I know what the situation is we'll be able to research, plan etc.

Yeah, IVF is just one tense wait after another and here you are again, more anxious waiting. Hope you get the results soon xxx

Hi hun I know how u feel.

My first rainbow baby I had when I was 36 . All scans and blood tests was good and pregnancy too.

We had last year end of October beginning of November (I turn 40 )we done fresh cycle and was successful.

When we had my scan at 13+6 they took some blood test and they done all Measurements my was 2.4mm which she was happy to see...few days after they call us saying the scan went well and the other results from blood r good part from 1:58 Down syndrome...saying that don’t mean it’s me. I’m over 40 years old my bmi bit up so “I’m high risk of everything “....I even have to take 150mg of aspirin in evening till I’m 36 weeks.

They offered us two choices...to do invasive test putting some needle in my tummy or do it privately NIPT.. we wasn’t think twice...we choose NIPT TEST .

We wait for results 4 days ...but that was the worst days ever. I couldn’t sleep , eat I cry ...I couldn’t stop thinking praying for my baby to be ok.

Results come back all low risk everything ok ...and we ask for a gender...and we having another girl🥰

When your results should be back hun ?xxx

Congratulations on your baby girl, so glad it has worked out well for you. I should get my results early next week. The wait and the not knowing is the hardest bit. Thank you for sharing your story.

Hi, I'm 31 and I had an NT measurement of 3.9mm at my 12 week scan and 1 in 5 chance of ds from my bloods. Went for a NIPT at 13 weeks and they scanned me there and fluid was 4.9mm. NIPT results were all low risk yet I still needed an amnio as the fluid was high! Amnio came back all clear and I just had a 20 week anomaly scan and a fetal heart scan done on the baby and all was fine :). No idea why I had a high NT tbh but fingers crossed your 1 in 10 will turn out to be low risk for ds xxx

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almostfamous in reply to NE90

That must have been such a worry for you, so glad that you got the all clear. Although my 2.5mm NT is on the higher side I know it's still within the 'normal' range. However my hcg seems really high 5.49 mom and that worries me a bit more. Although it so hard to know what is 'normal' since we're all different and there are different factors, my age definitely increases our risk. Lots of luck for the rest of your pregnancy.

This from a school friend and the accompanying pictures of her tiny newborn at 36 weeks and their healthy daughter at 18 months...

'#ImwithHeidi . You may or may not know that my thriving healthy daughter could have been aborted due to her "serious disability" right up until her birth. The first picture is of her at 36 weeks, according to the law, worthy of termination and the second her now, with her surprised face at the adversity she faced before she entered this world.

So many parents, families and individuals are changed for the better by their experiences of Downs' Syndrome; the perceptions of so many observing are still thoroughly outdated. So little can be deduced about life and personal experience from a T21 diagnosis. We feel lucky to have a daughter with an extra chromosome...'

The system is set up to make us fear... it may not have been what you hoped for but even if your child is one of the 10% it might not be as bad as you imagine...

Good luck with your journey 🤗

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almostfamous in reply to amazed

I'm not for a second saying that I would abort if our baby does have Downs Syndrome, although I fully understand it's the right decision for some people depending on their circumstances and my heart goes out to everyone who has had to make that difficult decision. I don't know a huge amount but I know there's a lot of positive stories out there and lots of support. However, nobody wants to think that there might be something wrong with their baby and their life will be more challenging. We've had years of infertility, disappointments, waiting for test results, hearing bad news etc and now having to go through this when we thought all was well is really hard.

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amazed in reply to almostfamous

I'm sorry your journey has been so challenging and I wish you all the best from here on 💗 🤗

Hi, I very much know how you feel, but the odds are still very much in your favour, I’m 40 and currently pregnant with baby no 2, we had a high NT reading at our 12 weeks scan and after blood tests I was given a 1:3 for DS, we opted for CVS, so that we could find out about all possible chromosomal disorders, it was a bit uncomfortable but not for long, first lot of results came back clear, still waiting for the second lot.... it has honestly been some of the worst weeks of my life, but we have got through it and so will you.

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almostfamous in reply to Cmp15

Thank you, and congratulations. We did discuss a CVS but opted to the NIPT first, partly because it's less invasive but also because we would get the results sooner. I've struggled with anxiety for years and although it's so much better than it was, things like this really set me off. Thank you for taking the time to reply.

Cmp15 profile image
Cmp15 in reply to almostfamous

I really wanted to just have the NIPT but they didn’t recommend it for us because of the high NT measurement, we were basically given CVS or an Amnio as options, but we’d have had to have waited three more weeks to be able to have amnio 🤷🏼‍♀️. You get the results back for the three main chromosomal disorders within 2-3 days, but the others take weeks 👎🏻. We also have to have a fetal heart scan and echo at 20 weeks, but I’m actually feeling more positive as time goes on. We had another scan this week (I’m now 16 weeks) and everything looks as good as it can at this stage... At least your NT measurement was ok ☺️. Waiting for results is definitely an anxious time, but you will get through it 💪🏻

Hi, I’m sorry you’re going through this because I know exactly how it feels.

I had the same call from the hospital and was told I had 1:21 chance of Down’s syndrome. My HCG was very high and Papp-a was low.

We did the non invasive NIPT as we did t wanna risk any miscarriage and the wait was for results was so difficult. It came back as low risk.

I’ve had a very difficult pregnancy and suffering hyperemesis. I’m 40 weeks now and will be induced next week and all my scans has been good except that the baby is measuring small but that happened with my first and she was perfect.

Try not to stress yourself I know it’s easier said than done but stress is not gonna help you and might do the opposite.

I hope all turns out well for you

Thanks for sharing your story, sounds like you've had a tough time of it. You'll be so glad to have your baby safely in your arms! My HCG was 5.49 and PAPPA was 0.67. The HCG worries me as it seems so high! Everyone's lovely replies are helping me feel a little less stressed 😊

HCG levels could be raised for other reasons such as multiple pregnancy. It’s not specific to Down’s syndrome. My Papp-a was 0.48 and HCG 1.55 and NT 2.90 mm.

I’ve had the worst time even after getting low risk NIPT I was so anxious until my 20 weeks scan.

I hope all goes well for you xx

We at least know its not a multiple pregnancy and never was as we had early scans due to it being IVF. Interestingly I've just read a research paper which showed ivf pregnancies tent to have a higher hcg and lower papp-a so there's maybe something in that.

Oh I didn’t realise it was IVF. Yes I remember reading that as well. I don’t think I’ll ever do this blood test in the future it’s non-specific and tests for markers that are not specific to Down’s syndrome that can be high or low due to other reasons.

Next pregnancy I’m only doing NIPT privately.

Stay positive and all will go well don’t worry :)

I can't remember my scores but I did have a low papp a score and at risk of pre eclampsia so has to take aspirin for the whole pregnancy. I fell pregnant at 41 and gave birth at 42. I had a high chance of downs syndrome at my scan. We opted for the blood test, we were very lucky our hospital offer this. After the longest week of our lives we got the results saying we were low risk. We now have a happy healthy 6 month old. My mum had a healthy unplanned pregnancy at 45. They use your age as a gage and it's not always accurate. Good luck x

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almostfamous in reply to Fudge26

Thank you and congrats on your baby! Even if our risk comes back low its really helpful to hear others experience as to what a low pappa/high hcg might indicate so that I know to ask those questions and get the right support or monitoring if needed.

Hang on in there strong lady! I know how it feels to have been through such a long and painful journey to get that first positive pregnancy test and fear that something could go wrong. Please remember that the combined test is only a screening test and not a very accurate one, so try not to race ahead with the ‘what if’ scenarios just yet. I hope you receive your NIPT result soon x

I'm literally going through the exact same thing.35, low pappa (0.36MoM) and NT of 3.3mm.

All sick of worrying 😟

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