High Risk Downs, need some support

[user1483719818]

Hi ladies,

I am 14 weeks pregnant, first pregnancy, 28 years old. We were told our risk is 1 in 7 after the combined screening.

I felt ok at the time as I was relieved it wasn't Edward's or Pateu's syndromes but now I am worried. I feel like I was pressured into screening in the beginning and now I am overwhelmed at the results. I am considering NIPT as I don't want invasive tests but not sure I want to know. I will keep the baby whatever the result; it's just so scary.

I feel quite alone and am looking for some support as it feels like everyone else I know had the all clear at their scans and I am the only one feeling like this. It has taken some of the excitement away of feeling pregnant because of the worry.

I have read some of the previous posts but didn't know how to add to them so I started a new one.

Any advice would be great. Has anyone had the NIPT? Did it give a clear result?

[KittyandTeal]

Sorry you are having a stressful time.

Personally, in your situation, I probably would have a nipt, the results are pretty conclusive for T21. I'd probably want to know so I can look into possible difficulties I might face once they arrive and request additional scans.

It's a very personal choice, some people would rather not know at all but I think I'd rather know and be prepared and informed about the issues I might face.

Nipts are very accurate. Not accurate enough if you were planning a possible tfmr but if you would definitely continue your pregnancy with a positive screen I'd say it's accurate enough.

Arc are a brilliant charity who will be able to talk to you more about this, and also give you advice if you do have a positive screen.

[Makinglists]

I have been in this situation 8 years ago (CVS/amnio was the only option then). We went ahead with testing and had a positive for T21. We chose a different route to you in the light of this result, however which ever way you decide should you have a positive result (and your risk is still relatively small (about 14% of having T21 or 86% chance of not) the charity ARC are fantastic - non judgmental and very supportive - would really recommend them.

[user1483719818]

Thanks for the info and reassurance. Yes the % isnsrill in our favour at the moment so we are clinging to that.
I am sorry to hear of your results Makinglists. Thanks for the advice to contact Arc.
I probably will do the NIPT but it is so scary while feeling like the whole process has just snowballed. Hopefully it'll be ok...

[SarahOoo]

Hi, we went through similar in October and we did the CVS as our risk for all three Ts was higher. We honestly didn't know, and still don't know what we would have done should we have a positive result. We had a clear result though so I can't advise further on that part. However as with KittyandTeal (hello by the way I'm sure I've read your posts before) I'd say have the NIPT and then you are more informed.

[KittyandTeal]

Yes I remember it well, you go from 'normal pregnant lady at scan' to suddenly it snowballing into appointments, long medicalised talks, tests, options, worry, confusion and a sickening anxiety.

I remember it feeling like a bubble where for a few weeks (and longer for us as we lost dd2) where it was my entire life.

That's why I found arc and my screening midwife helpful, just a chance to take a little step back and look carefully at each decision as it came up.

For now think about what you would probably do in the case of a positive screen. If you are sure that you would continue and that a termination is not in the options for you but you want to know if your baby does have T21 then a nipt is your best bet. If you think a termination might be an option then I'd say skip the nipt and get an amnio, it's diagnostic. If you want to not know and spend your pregnancy enjoying getting to know your baby and not worrying about it (personally I wouldn't be able to not know but for some their personalities work better this way) then don't have any more tests but ask for a detailed scan further on and some additional scans later on if your 20 week scan shows more evidence of T21.

Personally I alway plan for the 'worst' (the worst in this case may not actually be so bad) and anything better is a use bonus.

Fingers crossed for you 💐

[user1483719818]

Thanks for crossing fingers for us. I'm crossing everything too. We'll see what the NIPT shows and take it from there.
I already have 3 scans booked in now so defo feel like the medical side has snowballed but I'm trying to see each as another chance to see my baby rather than just scary.

[ozboomoo]

I'm a mummy of a severely disabled boy. He was born at term but doesn't 18 mths in an out of hospital. He still had lots of appointments and is a frequent flyer st our local children's ward ....... But he is an absolute delight!! Everyone who meets him falls in love ... Our life is surrounded by medical equipment but u can guarantee you I would never change a thing or him!!!

This is life and he is Oscar and if anything was different he just wouldn't be him!!!! Embrace life and the wonderful life you have created '

[sweetchilli77]

Hi, i was 1in 5 for downs.
I was booked in to have the amnio but due to bleeding i didn't want to add further risks, so i opted for the NIPT (harmony).

I came back as 1-10,000 and the scan measurements where all within normal parameters.
It was the best £400 i spent and it also gave me firm results no matter which way things could of turned out.

Im 39 (just)
Hopefully its turns out to be the results you want

[leighdinglady]

Hi sorry to jump on your post but we're in the exact same boat. We went for our scan this week and the NT was too high. Instantly taken upstairs. Bloods come back as high so risk for all three in 1:15.
We're shitting ourselves. Went for CVS today which was absolutely fine. Over in about 2 minutes and didn't really hurt at all. Results next week. Feeling devastated and sick with worry

[SarahOoo]

Thinking of you all in this limbo time, it's really quite awful. What's was your NT leighdinglady?

[leighdinglady]

NT was 3.8

[MadeForThis]

Hi,
We had a NT of 4.5. Scarily high when you check google. Bloods brought in a result of 1:5
We had no idea what we would do but needed to know.
We had had a previous mmc so weren't willing to take even the smallest risk on a cv or amnio.
Results came back within 5 days. Less than 1:10 000 For each of the trisomy's.

Did get a couple of extra scans to check her heart but everything was fine.

I recommend anyone who is in this position do the harmony test. Although it isn't officially diagnostic my midwife and the hospital team were confident that if it came back low risk that this was correct.

I believe that in the near future tests like harmony will replace the current nt and blood tests as too many people are given high risk results which are massively incorrect.

Good Luck with whatever you decide and congratulations on your pregnancy x

[SarahOoo]

Ours was 3.4. Yes I agree MadeForThis.

We had an extra heart scan too which is standard I believe after increased risk results.

[Corneliagoescamping]

Hello, I was in the same boat at a similar age and got a clear result from a CVS. I don't know what we would have done with a positive Down's result, I felt completely overwhelmed at the time and very, very worried. I found the medical professionals put quite a lot of pressure on to terminate had the results been positive. In the end our darling son has a much more serious but very rare condition that was not recognised until after he was born, so we did not have a choice because we thought the baby was healthy after testing. There are no rights or wrongs and although our son is very different to 'normal' I love him very, very much and he makes our lives good in so many ways we would never have understood. It is a challenge though to have a child with additional needs so you need supportive family or friends or at least to be strong yourself when necessary. I hope you don't have to go through the learning curve we have had to, but Downs or no Down's having a child is both wonderful and challenging at times. Good luck!!!!

[user1483719818]

Oh Leighdinglady I'm sorry to hear yours were high too. I hope it helpd to know you're not alone. In all of this the odds are however in our favour. I guess we have to remember that. Good luck with the results. I have everything crossed for you.

I agree the Harmony or blood test typemof screen would be much more useful than the combined risk one. Its so stressful.

[BridgetDarcy]

Hi - we went through this last summer. I cannot recommend Arc highly enough. They got me through so many days when I felt like I had nowhere else to turn. Also cannot praise FMU/UCLH highly enough. I had whatever tests I could. X

[leighdinglady]

I hadn't even heard of these other Harmony tests. We just went straight upstairs and were told about the CVs and the amino. We were immediately booked in for the CVS. At least the results are quick, but it would have been nice to be told.
I'll keep everything crossed for you too OP

[leighdinglady]

How you doing OP?

I'm struggling. I don't really understand how we can have high NT and low PApp A without there being something wrong. We were so shocked we probably didn't ask the right questions

[zambean]

I had low PAPP A and high bHCG (and slightly high NT, but not worryingly high), which gave me a result of 1:23. We had NIPT. The ten days or so waiting to find out were the worst, scariest of my life.

But everything is fine, it would seem. Came back 1 in 1,000,000 for all three trisomies. Because of the low PAPP A I am having regualr growth scans. Am now 28 weeks and had a scan on Friday - baby is on the 54th percentile for head circumference, and 85th for abdominal - he has a fat little tummy in there!!!

So I know how terrifying this is, and I know how easy it is to assume the worst. But remember, the NHS screening is an incredibly blunt tool. Your data is fed into a computer, and the algorithm spits out a number. The older you get, the more it's almost guaranteed to come back with a high risk result. It doesn't necessarily mean the worst. It may mean absolutely nothing.

Second the advice to call ARC. Was just nice to have someone who knew what I was talking about, who understood how I felt, and let me talk about my fears without being judgmental.

[leighdinglady]

Zambean thank you. That's really reassuring. I hope you're right!!

[user1483719818]

Yes I hope so too... I'm a bit stuck in limbo... waiting to find out is NIPT is covered by private insurance so it feels like we are not moving forwards. Its also my birthday this weekend so I am doing my best to stay positive and not fall apart. Stay strong those also awaiting results.

[leighdinglady]

OP maybe go for the Cvs if insurance doesn't cover it. It's very low risk and really was over quickly. Results usually within 2 working days.

[user1483719818]

Yes maybe i'll do that. It would be good to have all the results as that shows all chromosomes.

[curliegirlie]

Good luck OP. My 16 month old DD has Down's, which was a huge surprise as the NT/combined testing had come back as 1 in 1900. She is an absolute joy and doing so well - commando crawling and beginning to work on standing, and has already got a few signs (we've been doing Makaton since she was a few months old). She's been lucky enough not to have any health problems, but I know quite a few other young children with Down's who did have heart problems, but got through their surgery etc. and are absolutely thriving.

The Downs Syndrome Association is a brilliant source of support- they have lots of info for expectant/new parents, as well as links to local support groups. We have been plugged into all the relevant NHS support (physio, OT, speech therapy), as well as a local charity which offers additional speech therapy. Do feel free to ask any questions, if you want to know about life this side of a diagnosis xxx

[leighdinglady]

Just got our CVS results. The baby has Edwards. Absolutely devastated. How utterly fucking unfair