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Original poster

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

33 replies

Lemmik · 12/07/2024 10:47

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.

OP posts:
CharlotteFlorence · 13/01/2025 18:05

My hcg has just come back at 8.5
my nt 1.1
ams papa a 0.34

i think my results are very similar to yours so not hopeful

Original poster
Lemmik · 14/01/2025 07:15

@CharlotteFlorence I’m sorry to hear you have some worrying results, it is such a hard time to be waiting for further tests.. try to look after yourself as best you can during this time and keep hold of some hope because at this point you don’t know anything for sure. I am wishing you the very best ❤️

OP posts:
CSSL7 · 14/01/2025 16:23

CharlotteFlorence · 13/01/2025 18:05

My hcg has just come back at 8.5
my nt 1.1
ams papa a 0.34

i think my results are very similar to yours so not hopeful

Oh I’m so sorry :( my hcg was also super high (6.31) can I please ask how your sickness is?

I was bed ridden for weeks with it

GirlMumxx · 15/01/2025 13:57

friedleg · 12/07/2024 13:35

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.

What was the outcome of your high risk? Also, what was your NT measurement? Currently going through this and got the same percentage as you!

friedleg · 15/01/2025 14:09

@GirlMumxx the NT measurement was 4.5mm. The CVS came back clear, no abnormalities. Baby is actually due Saturday but I think he will be late. More stress of possibly being induced. Good luck with your results, it will be fine. When I started looking into this, all their initial tests were based on me (my age, the NT measurement, my blood test) - at no point did they check the baby until the CVS. So it just feels like they scare you for no reason and should have a more accurate test before dragging you into such anxiety and fear 😢

GirlMumxx · 15/01/2025 14:13

friedleg · 15/01/2025 14:09

@GirlMumxx the NT measurement was 4.5mm. The CVS came back clear, no abnormalities. Baby is actually due Saturday but I think he will be late. More stress of possibly being induced. Good luck with your results, it will be fine. When I started looking into this, all their initial tests were based on me (my age, the NT measurement, my blood test) - at no point did they check the baby until the CVS. So it just feels like they scare you for no reason and should have a more accurate test before dragging you into such anxiety and fear 😢

Aw i'm glad yours was all okay!! I'm absolutely petrified for the CVS🙈 I'm hoping it comes back all clear.

CB1209 · 15/01/2025 15:43

@CharlotteFlorence i had nt 1.3, hcg 7.7, Papp-a 0.27 and a 1 in 2 chance. He’s a year now and is fine - Amnio came back clear although nipt and cvs didn’t. Take care, the time around tests and waiting for results is awful so really feel for you x

friedleg · 15/01/2025 18:48

@CharlotteFlorence wow - that's scary, had my CVS came back no clear, I wouldn't have continued. It would be heartbreaking to think the Amnio would have been clear as I wouldn't have got that far.

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