1 in 11 chance of Down Syndrome

[mickey1121]

I was hoping for some positive stories please?

I've recently had a phone call with my screening results which have stated I'm high risk and there's a 1:11 chance of baby having DS. I have been so emotional all day and feel so worried.

My levels are:
HCG - 4.53
nt - 2mm
PAPP-a - 0.29

Im not sure exactly what the levels mean. I'm going in tomorrow for the NIPT test but I can't think straight. Does anybody have any positive stories to share?

I had a 1:10 risk. He was fine. I told myself that if I had ten babies 1 might have DS. Simplified much but it helped me.

I was given a 1 in 2. I knew that the hospital was wrong in the weeks they thought the baby was, though they ignored me. The baby did not have DS.

I’m sorry you’re going through this OP, I’ve got everything crossed for you. How old are you? I only ask as your age/weight/lifestyle factors also factor into your combined screening result so it may be that if you are an older mum that is throwing it off a bit?

If I remember correctly from when I was reading up on this when I was pregnant with my daughter it looks like your Papp-A is low (from memory I think I was told anything under 0.4 is classed as low but I may be wrong), your HCG looks to be high, and I think your NT measurement is within the normal range.

Try not to worry too much until you have more information and if you think it would help you then give them a call to discuss those results so you can get a bit more of an understanding about what has made up your odds, good luck x

Thank you so much. I am trying not to worry but it's just so difficult and the wait for the results is going to be so hard!

I'm 28 with a BMI of 23 and don't smoke etc. It has completely took me by surprise. Going to try my best to think positive. It's took us a long time to get to where we're at after struggling to conceive for 2.5 years after my having my son in 2021.

I have rang for some more info and the PAPP-a result is low, just so worried.

@Mrsttcno1
Thank you so much. I am trying not to worry but it's just so difficult and the wait for the results is going to be so hard!

I'm 28 with a BMI of 23 and don't smoke etc. It has completely took me by surprise. Going to try my best to think positive. It's took us a long time to get to where we're at after struggling to conceive for 2.5 years after my having my son in 2021.

I have rang for some more info and the PAPP-a result is low, just so worried.

Hi OP, I went through similar just a few weeks ago but with a 1 in 3 chance at 34 years old. I was beside myself for the week that it took for the NIPT results to come back but it came back as low chance thankfully. After a couple of days going down all sorts of rabbit holes on Google, I banned myself from searching anymore and it really helped.

What kept me going was telling myself there was still more chance the baby wouldn’t be affected and that the NT was normal plus there were no soft markers seen on the initial 12 week scan or the more detailed one that the consultant did after my combined screening result. The HCG and PAPP-A are what put my risk up and they are reflective of me rather than the baby. I was blindsided as, like you, I’ve no other risk factors (other than my age a bit) so thought I was all good after the 12 week scan.

It really is the most anxiety inducing wait for the NIPT results and I’ll be thinking of you. Please know that plenty of women in this situation are signed off work so if that’s something that would help then you aren’t alone xx

Hi @HopingSoHard

thank you so much for sharing your story and I’m sorry you had to go through this too. I’m really glad your results came back low risk. I can definitely see why you banned yourself from googling - I think I need to take this advice too.

That is really helpful to think that the levels are reflective of me, as everything else seemed to be fine during my scan and the sonographer in my 12 week scan had said all measurements and things looked fine, so like you I feel totally blindsided. I’m assuming this was for soft markers - what exactly are these? Would they tell you if they’d spotted something? It’s just so hard isn’t it, I cannot stop worrying. I’m just hoping the results don’t take too long to come back.

Thank you so much for your thoughts and sharing - I really appreciate it. Also something I’m considering with work, I found out today during work and had to leave straight away, I don’t think I can even concentrate xxx

It was honestly the longest week ever waiting on the results coming back - it took 7 days for me as I had them taken at the end of the week, whereas I think if I’d had them done after the weekend I still would have got the results on the day I did.

This was the thread I started when I got the call from fetal medicine and you’ll see there’s multiple other positive stories in the comments https://www.mumsnet.com/talk/pregnancy/5260195-1-in-3-chance-of-downs-syndrome-on-combined-screening?reply=141742654

You’ve got over 90% chance of getting a lower chance NIPT result…sometimes thinking of it like that rather than 1 in 11 helps with keeping positive. I’m not trying to undermine the worry though as I was very anxious!

I’m not sure if I had a consultant scan me only because I was right near the top end of the “higher chance” combined screening results on whether it’s done for all who end up having follow up after the combined screening tests, but she took so many measurements of the baby- pretty much measured everything and also looked at blood flow around the heart. She was cautious in saying some babies are born with trisomies who don’t show anything atypical on a scan, but it was obviously still better that she didn’t pick anything up compared to her seeing any markers. She said the heart seemed normal and also that the nasal bone was present (as many babies with DS have this bone absent or have heart complications). I feel like things such as limb length may be indicators too although not certain.

The midwife recommended ARC charity for support and they were very kind in offering a listening ear, although I think where they would really be invaluable is talking through decisions such as having NIPT or CVS/amnio.

Your team will hopefully be able to give you an idea of how long your NIPT results might take. The midwife was in touch with the lab to ensure my sample arrived and they kindly told her when they would be running the test. It meant I chose to WFH (after a couple of days off work initially then followed by a weekend) to keep my mind busy but then took the day off when I was anticipating the results. I was at work when I got the initial call too so really didn’t want to be there or in the middle of something when I got the NIPT results call xx

@HopingSoHard

I totally understand why the wait was so long, it already feels absolutely horrendous after this afternoon, and I haven’t even had my bloods done yet!

Thank you so much for sharing your thread - it’s really comforting to read positive stories and i really am so glad your results came back as they did.

It definitely does help to think of the positive statistic, it’s just so hard to think what if isn’t it! I just pray for a healthy baby.

The midwife I spoke to on the phone was really helpful and did explain it’s within 10 working days but she expects them to be back before next Wednesday, I just wish there wasn’t a weekend in between. It’s so easy to say keep busy isn’t it but I also dread having to have conversations with people who know that I’m pregnant but don’t know what we’re currently going through - really unsure how to navigate this!

Again, thank you so much for reaching out and sharing the charity too, it means so much xx

Your baby has a 91% chance of not having down syndrome. Sounds less scary written that way.

I hope your NIPT appointment went as smoothly as it could have today and I’m glad the positive stories have been helpful to read. There’s every chance that this will soon be a memory of a terribly stressful week so try to keep the faith as much as you can, although I know it’s so hard to do!

It’s really hard to know how to carry on while you’re waiting on the results and to be honest I was lucky to be supported to WFH for the sole reason that I didn’t feel ready to see my work friends who I’d just announced the pregnancy to a couple of days earlier. However, when I went back to work after receiving the lower chance results I found that I did want to be somewhat open about where I’d been, but in vague terms such as “worrying news about the risk of the baby having a trisomy but I’ve had further testing and the risk is now very low.” It turned out that a handful of my colleagues had been through similar experiences and many people had sisters, aunties etc who had too. I didn’t feel that I wanted to share the details that it was 1 in 3 for DS as people often give their opinions on what they would have decided had their unborn baby been affected.

It’s really not easy being in this waiting phase and I’ll be thinking of you lots. I hope you have good support around you and that you’re able to take the time out that you need xx

@HopingSoHard

Thank you so much. The appointment went as smoothly as it could and I had the chance to ask lots of questions, the midwife was really helpful but I guess you just want them to say everything will be fine but they obviously can't!

It was really confusing as she explained the only figure low was my Papp-a and everything else was in normal range, so again, we will just have to wait and hope for positive news.

Luckily I only work part time so I have some time off work until next week and my manager is so understanding and was actually with me when I got the call so understands if I need some time next week too.

Going to try and think positive to get through the wait until next week. I really appreciate your thoughts, thank you so much xx

Hi, how have you been doing over the weekend? Fingers crossed not too long now until you get your results if you haven’t had them already. I hope it’s good news for you xx

@HopingSoHard

Thank you so much for your message checking in! Weekend was torture, most definitely the most difficult week of my life but we've had the results back this afternoon and thankfully they've come back low risk! I'm so relieved and can't believe it - so glad everything is ok ❤️
Thank you so much for your support and kindness last week, it really helped me xx

Oh this is fantastic news and has made my day! It takes a wee while to come back down from the ceiling after the good news call but what a relief. Hope you get on well with the rest of your pregnancy. I’m on aspirin for the low papp-a and have a consultant appointment after my 20 week scan to make a plan for monitoring during the rest of the pregnancy based on that. A bit anxious but hopefully it’s all reassuring. Not sure if you’ll have a similar set up but hope all goes smoothly for you xx

I had a 1:11 chance. Had the NIPT test and came back low risk. Baby was born with no DS. I had very high Hcg and very low PAP A combined with being overweight and 31 gave a high risk score.

Im glad your baby was unaffected. Do you mind me asking whether you had any concerns relating to baby’s growth/blood flow
from the placenta to baby, or did everything go smoothly?

Thank you, and no concerns at all. Baby’s growth was absolutely fine

@HopingSoHard
Thank you - it really does. I just couldn't believe it.
I feel the same, quite anxious about the low Papp-a but glad it's been picked up and I've also started aspirin.
The plan seems similar to yours, I'll start growth scans from 28 weeks every 3 weeks to check on baby and their growth - hopefully everything will be ok for the both of us and we will soon have our babies here! Xx

@mickey1121 just seen this thread and so glad you've had good news already! Hopefully you can relax and enjoy the rest of your pregnancy now 😊 I had a 1:11 risk last year and thankfully had a low risk nipt, and a few weeks ago had my beautiful baby with no ds so the nipt was right!