1:4 Risk of DS/Trisomy 21 😞

[cloud26]

Hi All,
Looking for similar situation as I am (with positive outcome). I am 32, I was given a 1 in 4 risk of down syndrome for my first baby, I am currently 13+6. When I had my 12 week scan the sonographer did not mention any concerns so we were in cloud 9 my husband and I, until yesterday when we received a bad news from the antenatal screening team. I have not slept last night and could not eat.

My results are as follows:
NT - 2.7mm (taken at 12+0)
HCG - 3.824 MoM
PAPP A - 0.550 MoM

I could not believe it, I am in shock!!

Hi OP. I'm so sorry, you must be so stressed. I haven't been in this situation myself personally but I wanted to give the thread a bump for you. Hopefully someone will come along soon x

I’m so sorry you’re going through this - the shock and uncertainty is so hard to deal with. I had greater than 1 in 2 and my little 16 month old doesn’t have it so there is a positive story for you. Like you I had normal nt (1.3), but I had sky high hcg (7.7) and low Papp a (0.27). It was weeks of hellish tests and very strange results - nipt high chance, cvs abnormal and then miraculously amnio normal and healthy baby born Jan 24. They diagnosed confined placenta mosaicism, where abnormalities were in the placenta but not the baby. Will you go for nipt next or are they suggesting cvs? Wishing you strength, it remains one of the most traumatic times of my life even though it turned out ok so I really feel for the turmoil you must be going through x

wow what a story! so glad, that it has a very happy ending

So I went for an amnio yesterday and the midwife did speak about the mosaicism you mention. Its mad your cvs came back abnormal but my god the relief of a clear amnio !

I can imagine the stress, currently going through the same, hoping for the same outcome xx

@BloomingOrchidea im keeping my fingers crossed for you! Did you have an nipt or cvs? Yeah they told me there was almost zero chance of amnio coming back normal… and it did. The waiting is awful though, hope yours is over soon x

Thank you ! I had the nipt and that was high chance. I expect the amnio results to come through tomorrow/Monday but have already booked a tfmr as I don't have much hope left and don't want to wait longer than I need to x
If the result is as yours ill cancel. By the universe and all that is sacred, how that would make my dreams come true

@cloud26 what was the outcome? Hope all is well.

Hi, unfortunately, it was confirmed T21. I had TFMR last May 29 at 17 weeks 😞

I’m so sorry 😢

I am so sorry. I too had a tfmr on the 18th June for T21 :(

So sorry 🥺 I am scared to get pregnant again, it was a very traumatic experience.

I know. And I think even when you do feel strong enough to try again it'll be a period fraught with uncertainty. Speaking from experience and what others who have also been throught this have said BUT the joy of a baby on the other side will hopefully be worth facing our fears.
I wish I could try again already but we're giving ourselves a few months to get in shape. My inbox is open if you want to chat x