1:5 risk for Down syndrome

[Crispmonster2501]

I’ve had combined test with NHS and looking for hope. I’m 38, NT was 3.7mm, BetaHCG 1.8 and PAPPA 0.32. I am not holding out much hope with things not ok in all three parts. I’m now 13 weeks pregnant and CVS couldn’t be done today as couldn’t get a safe route to the placenta with the needle. I’ve booked a private NIPT which is Thursday this week and also having a repeat attempt at CVS on Monday. The waiting is just horrendous, as anyone who is/has experienced this will know. I am just preparing myself and wondered if anyone with my kind of results have had the outcome they hoped for.

I'm so sorry this is exactly the same as me including having to wait for cvs. My thread is devasted 1:4 chance of down syndrome. Its not a good outcome for me but lots of posters on that thread had positive stories with worse results.

I really do appreciate you taking the time to message me disconnecteddrifter. I have just read your thread and it’s like reading about myself. I’m struggling to function in this limbo. The stories of hope are great to hold on to. My heart reaches out to you - I too will make the choice you have if the results come back positive for downs. It’s such a personal decision which I believe no one has the right to judge. Everyone has their own circumstances. I send you all my very best thoughts and wishes and that time brings some healing xxxx

Hi @Crispmonster2501, may I ask why you’ll go for ending the pregnancy if the CVS confirms Down’s syndrome? No judgement here, I completely understand it’s a personal choice, as you’ve said, but just want to understand the reasoning behind it in your case. Take care xxx

@Crispmonster2501 I hope you got your results back and they're fine.

@curliegirlie it's such a personal decision and I don't think anyone should have to explain to strangers on the internet why they decide to end a pregnancy with DS. I've been there. Asking this because you want to know is a bit cheeky...

@Crispmonster2501i am on similar threads, and my one is 'No nasal bone and high NT'. My NT was 2.9mm, but there was no nasal bone visible either. We did the CVS which did come back clear.

I am still so nervous, especially if they still can't pick up nasal bone in next scan because it is linked to other things. They will do a hear scan next as that could be another reason or give any indication.

I realise this was couple weeks ago now and hope all was ok.

@disconnecteddrifter i was following your thread and again so sorry for what you went through xx

@NoCallerID huge apologies, I tried to phrase carefully and ultimately failed. It wasn’t nosiness, just that depending on the worries and fears I may have been able to signpost some useful advice and experience from people in a similar position, which may have acted as reassurance.

@Crispmonster2501 I hope everything went well with the CVS and NIPT. It’s such a horrible time, but also there are lots of people on these threads who have been through similar and can support you if you need to vent.

Hi @Crispmonster2501 congratulations on your pregnancy. I'm sure you're experiencing a huge range of feelings right now. I wonder if it would be helpful for you to speak with someone who has been where you are now. DSUK have a helpline (0333 1212 300) and information on their website. Pretty much everyone who had news their baby maybe/has DS would have been shocked - it's not hereditary and the 'risk' factors don't always apply. They've put that kind of experience into support and information - lots of resources too.

Not everyone knows people with DS. My sister has DS so I grew up within her community. It was fabulous. Quite possibly the people you are asking also don't know anyone with DS and so only one kind of narrative is heard, that's why I'm suggesting DSUK would be useful.

Hope you're well in every way. Congratulations once again!

I had 1:3 probability for downs. For some reason in my 12 week scan they couldn't measure nt. I had bloods at 16 weeks and I got the 1in 3 result. I decided to go for amnio and had it at 20 weeks. The result was normal chromosomes.

I had the same result with my DD's pregnancy. I had the harmony test done and it turned out she was fine. The waiting was absolutely horrible. I did a lot of DS research during that time, because that's how I cope with things, but there are others who would probably prefer to try to take their mind off it as much as possible. Do what you think is best for you and be kind to yourself.

Hi @Crispmonster2501.. i hope my message makes you feel better. I am 35, had a pretty much similar NT to yours at my 12 weeks scan, my Beta Hcg was 3.03 and Papp-a was 0.3 and i was given a high risk of 1:18. I went for the Harmony test at London Fetal Medicine Centre and was on the edge all the while waiting for my results as the waiting time was 2 weeks. 7 days later I received a call from them saying there was not enough fetal DNA in my blood so the test could not be performed and called me in for a re-draw. Although they re-assured me that this doesnt mean there is anything wrong with the baby, I was still freaked out. 6 days after the re-draw I got my results today and everything has come out clear with a low risk for all the three trisomies. I'll say call them yourself to get your results if you dont get it within the mentioned days cz they had mine since two days ago. Sending lots of good wishes and positive vibes your and I hope everything works out best for you and your baby !

There are quite a few ladies on other threads on mumsnet that were given a high risk of 1:5 but they all had clear results. Basically my midwife explained to me that they generate these risk factors based on the data they enter in their computer systems.... so this is mainly statistical. If the sonographer was satisfied with your scan, then I think everything should be fine for you. But I can imagine the wait can be a pure torture... been there myself and know exactly how it feels. Lots of love to you

I had a risk of Downs of 1 in 5. We couldn't get the CSV because the placenta was in the wrong place and had to wait for the amniocentesis. It was the longest wait ever.

Ours was positive for Downs and we chose to terminate.

You know what you're going to do for either outcome, just try and keep busy and it will come around eventually.

@curliegirlie I appreciate that. I've seen a few of your comments to posts and it's great that you want to educate people and break down the stigma of DS. For us - as for many other people it was a heartbreaking decision we made for the best of our family. And as much as I think it's great that you show people what life with DS and your beautiful daughter looks like, it can also be very heartbreaking and triggering to see. Personally every time I see someone with DS my heart breaks over again. Once someone has made the decision to TFMR there will be not a single day of their life without guilt. It doesn't matter if it was the right decision - we have no regrets, but we still wonder what would've been. So having to explain to others the why's would be even worse. I know you didn't mean it in a nosey way, but I just couldn't ignore it. I'm a few months down and it gets easier, maybe that's why I feel I need to stick up more and possibly also educate it from the other side - from the one that lives with having had a TFMR for T21.
(I hope this post doesn't come across as rude, struggling to find the right words today......)

@NoCallerID absolutely and I’m so sorry if my posts are triggering to you, and I know in many ways I had it easy not having to make that decision, as I honestly don’t know what I would have done back then, in the position of knowing absolutely nothing about DS and only having the doctors grim predictions to go by. That idea scares me silly to be honest. And that’s why I post on these threads, to try and help the OPs get a more balanced view of what living with DS is actually like, and prevent some making decisions that they wouldn’t have made if they’d seen the broader picture. Currently 90% of prenatally diagnosed babies with DS are terminated. I just want to ensure that women making these decisions aren’t just faced with the worse case scenarios. But at the same time, I don’t want to necessarily throw all these links around where they’re not needed...like the poster the other day who was concerned because she was older, with other children with SEN etc etc. and this OP seemed pretty certain what she wanted to do, so I wanted to try and get the context before giving out all the PADS links. I know this is all hugely problematic and really difficult having people on such different sides of the fence in the same place - and I think the OPs in these threads need to hear the experiences of ALL of us, the recommendations of ARC as well as the pointers to the DSA, we all have important messages to give so we all have to be brave and try not to be too upset by posts we read here (and I equally get triggered by reading that people effectively don’t want a child like mine). Sorry, this has ended up rambling again...take care of yourself and be kind to yourself, I can’t imagine what you’re feeling right now. It being right for you doesn’t make it any easier and I’m so glad to read how thoughtful and sensitive hospitals are in these situations and that you are given the opportunities to make memories and say goodbye properly. Lots of hugs xxx

I too have been in this position. For various reasons I had to wait 4 weeks before making any decisions and I'm forever grateful for that. I just can't imagine having to make a decision a day or two after finding out. I was in shock, your body's natural reaction is fight, fight or freeze. I didn't know much about DS.

That time was a gift, especially to my husband who was adamant we would terminate. After research and talking to DS charities, we fell in love with our boy and the fear was gone. Life was going to be just fine.

I always appreciate your posts @curliegirlie as they stand out as the often lone voice going against the tide. It's so important you keep talking, it's unfair to any woman to have only one perspective presented. This is about making an educated, balanced and compassionate choice, after all. Every woman in this position deserves that.

I would support any woman through this, regardless of them making the same or a different choice to me. It is quite simply the loss of a loved baby, either way.

@covidmonkey great to here results were normal was everything okay? It's been some time since the post I know. I'm waiting for my results. I've heard stories where initially something was indicated high risk after results coming normal there has subsequently been issues, just wondered how all went xx