1:2 Down syndrome risk after eFTS

[worriedCANmom]

Hi all,

I am an expectant first time mom from Canada and I haven’t seen many examples of such a high Down syndrome risk in chats. But this forum seems to be very helpful.
I am feeling sick and desperate for positive stories of 1:2 Down syndrome risk after the 12 week NT & blood work combination.
These are my numbers:
33 yr old IVF
NT 3.4 at 12 weeks 3 days
free Hcg 1.45 MoM
pappa 0.79
PLGF 0.51

I Understand my NT is elevated but my bloodwork didn’t see so extreme to warrant a 1/2 score…
nasal bone was visualized.

My ON mentioned because of my age my risk may be lower but I think he was trying to give me an ounce of hope. Thank you for any comments in advance <3

I’m so sorry you’re going through this. I’m afraid I don’t have much insight beyond what you can find yourself on Google but didn’t want to read and run.

i think the reality is that you won’t know until they do further tests. It’s true that your bloods look ok but now you have been told this you will naturally be feeling anxious until you get a result whatever you read on here.

What is the next step for you?

Sorry you’re going through such stress. If it were me I would have to know definitively, so would go for CVS or amnio in a few weeks. I think it’s also important to factor in what you would do if a trisomy was confirmed. If you would terminate (which is what a majority of mothers would do in your situation) then you must go for definitive testing.

Thank you both for replying. I am awaiting an NIPT blood result any day now probably back on Monday. I do want to do amnio no matter what the result. Just needed to put my situation out there in case anyone can relate.

At our 12 weeks scan we were hit with the news that we had 50% chance of our baby being healthy. I had cvs a couple of days after, followed by lots more scans throughout my pregnancy, thankfully all turned out well and my 5 month old healthy baby is in my arms right now. It’s a terribly scary/anxious time waiting for test results etc, so take good care of yourself, and i hope you also have a happy ending, lots of positive stories are out there to give hope x

Thank you so kindly for the reply and I’m happy to hear your story :)

I'm sorry you are going through this OP. I had the NIPT at 11 weeks, so before I got the 12 weeks bloods back. It showed patau syndrome (trisomy 13). I realise its a different genetic issue to Downs, but for comparison, the NT was 6.5mm. There were also obvious deformities seen on the U/sound also. Happy to answer any questions you have.

I realise you are in Canada, but this website might be useful, or there might be a similar one there. www.arc-uk.org/

Thank you for sharing

Just an update for those who will scroll through these forums for a similar story the NIPT was low risk for all trisomies after a 1:2 risk!!!

That is such great news OP. Thank you for the update xxx

Fantastic news, what relief you must feel, I hope the pregnancy will now be much calmer and enjoyable for you x

Ah @worriedCANmomthat is great news! Enjoy your pregnancy now (if you can - not always an easy time for everyone) and your baby when it comes xxx