1:2 chance of Down’s Syndrome & then a positive CVS

[Lemmik]

TW- positive Trisomy 21 diagnosis and sharing of antenatal screening results

Hi all,

I am just sharing my experience - unfortunately it is not a positive outcome for us but I know before I received the official diagnosis I was obsessively looking for other people’s results in order to compare mine, so I felt it only fair that I also share mine for others to see. Hopefully others with better markers or a better combination of results will feel reassured after seeing mine that were linked to a positive Trisomy 21 diagnosis.

We had an abnormal scan at 12 weeks and received odds of 1:2 Trisomy 21 (Down’s Syndrome) following antenatal screening blood tests. My results were as below:

NT 3.9mm
HCG 2.72 MOM
Papp-A 0.34 MOM

It was also noted that our baby had a flattened facial profile in the scan.

We have made the heartbreaking decision to end this very much wanted and longed for pregnancy.

I am wishing others every success on their individual journey. Perhaps with me being the “1”, it can mean a positive outcome for another 🙏 Good luck all.

So sorry OP. Take care x 💐

I’m so sorry to hear what you’re going through, it’s a heartbreaking decision, but you’re doing what’s right for your family. Take care!!

Big moral support and love to you.
All the best for your family's future as well x

So sorry. I was the 1 from the 1 in 8 and made the same decision, was a very tough time in my life. There are a lot of people on here that have been through the same and I also found Reddit a great source of support with lots of women going through the same.
Sending strength ❤️

Thank you all for your kind messages of support, it really is appreciated ❤️

So sorry to hear that.
I had my CVS on Thursday and just waiting for the results. I found it a little painful, they had to go deeper as I have loads of Fibroids.

My results are:
NT 4.5mm
HCG 1.8mm
PAPP-A 1.11mm

1/2 chance of downs syndrome and 1/17 chance of Edwards / Patau

I'm 38, first pregnancy which happened naturally after failed IVF.

I feel so nervous and sad, waiting for the call is making my day feel longer. I don't think it will be a positive outcome and I'm trying to prepare myself mentally for a termination after hearing the heart beat and seeing the little one swim around on the scan.

@friedleg I’m so sorry you are in this situation, it is such an anxious time whilst waiting for the results. I’ll be sending lots of positive thoughts your way.
Your blood results look a lot closer to “1” than mine- I was under the impression that they should both be as close to 1 as possible and it’s the big gap between them that is worrying- maybe it’s your NT measurement pushing up the chance score & that can sometimes be nothing at all. It’s easier said than done but try to think as positive as possible. I’m wishing for good news for you ❤️

So sorry to hear this OP. Thinking of you and @friedleg 💐

💐

Sorry you're going through this. I had the same thing happen last April and my thoughts are with you. Please reach out if you want to message me. Also, there is a forum on the ARC website (which is locked and only accessible to TFMR parents) which has been a huge support to me - as have some of their in-person support events. I'd recommend taking a look at those.

I'd also recommend the "Time to Talk TFMR podcast"

The same happened to us in May. ❤️ sending you peace. Our odds were 1:5.

NT 0.7mm
hcg 6.31
papp-a 0.32

im yet to find anyone with hcg as high as this and I still don’t know why it was SO high.

@CSSL7 Im so sorry to hear, it’s such a painful experience. Wishing you strength & peace ❤️

My thoughts go out to all the parents who find themselves in this awful situation. I’ve been there too although the outcome was good news. 🌺

So sorry OP x

Just updating for anyone with similar numbers to mine. The CVS results came back clear which is a relief

@friedleg I’m so pleased for you, wishing you the best for the rest of your pregnancy ❤️

Currently awaiting results having been given 1:12 odds of DS. Low Papp-a and raised hcg. NT 1.7mm. The same happened in my previous pregnancy 5 1/2 years ago. Odds then were 1:18. Then 29 now 34. This pregnancy has been ivf, totally terrified again!!

So sorry to hear your sad news.

I hope you don't find this offensive, but at least we live in times where technology and science is able to give such clear diagnosis.

When the stats are so clear it hopefully is reassuring to you in your decision. And will bring in time comfort with your grief. ,💐

@Pippa89 Wishing you the best of luck, hopefully with your low NT measurement it’s just the bloods slightly off (which might just be normal for you). 1 in 12 is still only about 8% chance.. so 92% chance all is okay 🤞

Thank you for your positivity! The same happened with my son and bloods 6 years ago. So I expecting it. Hopefully it’s a false alarm again. ❤️

Had my results today, they came back as low. Thank you to all those writing and responding in these thread, they have been my support these last few days!

@Pippa89 Brilliant news ❤️