High risk for Edwards, Patau's and Down's syndromes

[Mummy2O]

I had a call from the screening team at the hospital today to say I have a 1 in 22 chance of Downs and a 1 in 9 chance of Edwards and Patau's syndrome.

I am scared stiff. I have opted to have a CVS. Can anyone tell me what to expect or offer me any reassurances. The statistics are feeling very overwhelming at the moment.

I had a missed miscarriage in Oct 2019 and this is our first pregnancy since, so this is playing on my mind. I also have a 4 year old.

Definitely better safe than sorry. I rather like my bowels being in one piece.

Hi I’m new here but just wanted to share my experience. Firstly @Mummy2O so sorry you are going through this I have had a similar experience. I had my 12 week scan last Friday and was given a high risk of T13 and T18 due to high NT reading. I was fortunate to get my CVS on the same day. It wasn’t as bad as I thought - just don’t look and make sure you have a hand to squeeze. I believe an amnio is pretty similar. Wishing you all the best and sending positive vibes

Thank you Taisu. I hope you get your results back quickly and that they are OK. It is so stressful, isn't it?

Yeah the wait was the worst just try and keep your mind occupied and try not too google too much.
I got my results on Wednesday (3 working days) but unfortunately it wasn’t good news - baby tested positive for T13. Your NT reading was not a cause for concern so hopefully that’s a good sign.

@Taisu I am so sorry to hear that. Sending you lots of love.

Just a little update. My NIPT test came back as low risk. I have never been more relieved.

Now I need to decide whether I still want to press ahead with the amnio to be 100% sure.

That’s great news!

Oh, wonderful! Isn't the NIPT considered more accurate than the NHS one?

That's great news! And that's the dilemma I then had too.. When you have a low risk NIPT and you know how accurate it is you ask yourself whether it's worth going through with the amnio. For me it wasn't, especially as everything on the scan looked good (I had dodgy bloods to go with my 39 years!). I decided to wait till the 20 week scan and if anything was picked up then (no matter how small) I'd have an amnio. However, just ask yourself if you're able to take the result of the Nipt and now forget about it and move on. I really struggled throughout the rest of the pregnancy because I didn't have a piece of paper that said 100% that all was ok. Not helped by consultants at every growth scan questioning my 1 in 13 chance. For me, with hindsight I wished I'd had the amnio, ridiculous really as I know Nipt is so accurate. Good luck with whatever you decide.

@Liveforholidays I think that is a big concern for me. I worry that without confirmation from the amnio I won't be able to enjoy the rest of my pregnancy as I will be worrying something is wrong. But, it also comes with a risk.

I think I may end up doing a Friends style pros and cons list to help me decide.

It does come with a risk and that's why I didn't have the amnio on the end.

That’s great news @Mummy2O. Did the consultants/FMU give you any advice on whether it’s worth having the amnio? All the best with whatever you decide.

@Taisu They said to think about whether I'd be asking for it if it was a low risk pregnancy from the off. They've left the decision open for me though. They have been really good.

I had the CVS (similar to Amnio) a few months back and had to have it twice as pregnant with twins. You should of course do what is right for you, but wanted to say the 1% miscarriage risk is throughout the period of time these have happened and across all hospitals. If you have a consultant you trust (and i think you can ask re stats) then it is generally -some have close to 0% stats. I had a lot of trust in my consultant who did CVS and I was fine, even doing it twice in one go xx

Hi ladies. I had my dating scan last week with bloods, measurements and scan fine but came back as a 1 in 24 for downs. Manage to get a harmony test privately the day after and now waiting for results. It’s our first and I’m 40, not sure what the blood measurements were. Just hoping that the harmony test will be all ok.

@mrslouu I'll keep everything crossed for you. Have they said when you can expect your results?

@simz01 That is a very sensible way of looking at it. The more I think about it, the more I think I want to risk the amnio to be sure. I'll just worry for the next 6 months otherwise.

@Mummy2O thank you for your kind message. 5 working days give or take and test was Wednesday, feels like forever but the clinic said some can come back a little sooner. Glad you had a low risk result, that’s what we are hoping for. How are you getting on?

I had my blood done on the Thursday and the results were back by the following Wednesday afternoon. In the meantime I just kept trying to distract myself with random little projects and podcasts.

I am doing OK now. Feeling a lot calmer.

@Mummy2O gosh I hope they do come a little early; isn’t it a shame it isn’t a routine to test for everyone on the nhs and it would prevent lots of families the worry.

@mummy20 It really should be. I guess it comes down to cost. It is offered here in Wales, but only if the screening warrants it.

@Mummy2O just got our results and all low risk; having a boy. Results took 8 days including sampling day.

All the best for everyone still waiting.

@Mrslouu Congratulations!! That is brilliant news. How are you feeling?

@Mummy2O relieved and happy we had the NIPT and it has put our minds at ease; tired but I guess that’s to be expected. How about you hun?

@Mrslouu I am so happy for you. I am doing OK. I've decided to go for the amnio. I am booked in for Monday. I just want it done now.