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Talk about every stage of pregnancy, from early symptoms to preparing for birth.

NIPT test 99% positive for DS

14 replies

Em2468 · 22/05/2022 12:48

Afternoon all,

Currently 13 weeks pregnant with DS2. First pregnancy had quad test at 16 weeks, chances were 1:80 for Downs, had an amnio and was given the all clear, Now a healthy 8 year old. I was advised about the NIPT test back then to save the worry and pain that we went through first time round, therefore this time asked midwife at booking in appt whether I could have the NIPT test as quad was wrong last time. Was told no and needed to pay private, which we did. Received the heartbreaking results last week 99% for Downs. Have to wait now until 16 weeks for Amnio. I am utterly walking around in complete despair, have absolutely no idea how I’m going to get through the next three weeks worrying about whether baby has ok. Have had lots of support from different organisations so far, but also been told in no uncertain terms from all of them to expect confirmation of Downs from Amnio. My 8 year old is the only person keeping me going through all of this, I just cannot stop crying wherever or whatever I am doing. Just reaching out to anyone who has been in the same situation, any coping techniques will be really useful. Thank you for reading x

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ItsAllABitMuch · 22/05/2022 13:18

Not quite in the same position but DS2 had high risk for DS after 12 week scan. NIPT test gave the all clear.

He's 9 months now and I'm actually concerned he might have some kind of syndrome not tested for. It's not glaringly obvious, just niggly things.

In your case, and when I was awaiting results from the NIPT, I found using the time to draw up reasons for any decision I would make (i.e. whether to terminate or not). I don't have much practical advise other than that. But I can understand how you feel to some extent.

I sincerely hope you find peace with whatever outcome comes your way 💐.

The4Seasons · 22/05/2022 13:30

Contact ARC. They will be able to give you lots of support.

I have a 10 year old DS with DS and he is an absolute joy and adored by his siblings. Ours wasn't picked up until birth (all tests and scans came back low chance of DS). DS has only brought positivity to our lives but lots of my friends with DS children have different experiences. There's unfortunately no way of knowing. It's a really tough time, use your support networks and whatever you decide will be the best decision for your family.

Regenbogen22 · 22/05/2022 13:47

The4Seasons · 22/05/2022 13:30

Contact ARC. They will be able to give you lots of support.

I have a 10 year old DS with DS and he is an absolute joy and adored by his siblings. Ours wasn't picked up until birth (all tests and scans came back low chance of DS). DS has only brought positivity to our lives but lots of my friends with DS children have different experiences. There's unfortunately no way of knowing. It's a really tough time, use your support networks and whatever you decide will be the best decision for your family.

Hi @The4Seasons your NIPT also came back low risk?

Roeslein · 22/05/2022 14:17

NIPT wasn't readily available 11 years ago in most places (introduced in late 2011) so likely she didn't do it...

The4Seasons · 22/05/2022 14:40

No, didn't do Nipt, wasn't available. And as all the tests (combined bloods and scans) came back low chance if DS we weren't referred for further testing.

Regenbogen22 · 22/05/2022 15:47

Ah, sorry, hadn't the foggiest how "new" that kind of testing is/was! 🙂

@Em2468 wishing you lots of strength and patience to get through the next few weeks before.you get your definitive answer😘

BabyB19 · 23/05/2022 09:00

Hi @Em2468 not the same but I had a growth scan at 35 weeks where they found a stomach issue highly linked to Down syndrome. I never did any testing earlier on as it wouldn't have affected my decision to continue with pregnancy so obviously we knew there was a chance. I'm now 36 weeks and being induced at 38 weeks, it has so far been the longest wait of my life and I'm only a week into a 3 weeks wait before the induction. My head is everywhere as I just need to know either way. What's helping me is that I know I will love my baby regardless and having looked a little into it I know (s)he is likely to be able to live a relatively regular life. Hand holds for any of us in this place right now x

Em2468 · 23/05/2022 09:31

Thank you all for taking the time to comment. Even though I know I’m not alone, sometimes it really feels that way. It’s easy to think we are the only ones, it really helps speaking to other mums going through similar things with similar experiences. Xx

Sending so much love @BabyB19 x

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Peaches2020 · 23/05/2022 15:50

I am so sorry that you’re going through this. My situation was very similar, pregnant with DS2 and the nipt came back as 95% chance of DS. I had the CVS at 13 weeks as you can have that earlier than amino, so worth considering. Sadly it wasn’t good news for us but we are expecting a rainbow baby now so there has been light at the end of it all. ARC are absolutely wonderful. Thinking of you. I had time off work while going through it all and didn’t rush back which helped. And spoke to a clinical psychologist which really helped me too xx

Em2468 · 23/05/2022 17:00

@Peaches2020 thank you so much for sharing. It really is difficult trying to function and process everything, I’m glad you have a supportive employer so you could take the time you needed. Also so happy to hear about your rainbow baby ❤️ Xx

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Fanny81 · 25/05/2022 10:34

Hi just wanted to reach out and say I am
currently going through similar to you @Em2468. Had the results of my nipt just this past Monday. And floored that I got a 99% for T21. I’m a wreck and a zombie mostly. Cannot stop bursting into tears and not sure how to get through days and nights. I know also from reading that this means it is probably pretty certain.

I am 11 weeks and booked in for a scan tomorrow at the hospital. I have then asked for a cvs. Which I believe will happen next week.
From my reading this will probably return similar results to nipt as taken from placental bloods.

i have an almost 2 year old who like you is the only thing getting me and my husband through the days.
I feel like someone has landed a giant crap on my life. Also this is something that happens to other people not us. Which is ridiculous I know.

I suffer from pretty bad all day all night nausea and this obviously hasn’t let up. Which is a reminder that I’m pregnant all day. I can’t seem to let myself feel pregnant anymore.. my head is in bits.

I am 40 and this is an ivf baby. So this just adds to the stress of what to do and the feeling of time running out.

can I ask did you have an option of the cvs and did you decide to wait for the amino?
As I know this will be more definite. Also have you had any further scans? How is the NT measuring etc?

just mostly sending solidarity that there is another household stuck in what feels like a living nightmare. X

Em2468 · 25/05/2022 11:51

@Fanny81 thank you so much for messaging. So sorry to hear your going through the same. The reality of this all setting in I think is the reason for the outbursts of tears and complete and utter feelings of hopelessness. I have spoken to ARC this morning who have been absolutely wonderful and supportive, they’re definitely worth a call (I’m struggling everyday, but today seems worst than most).

Im still having the nausea too, mine is morning, but it’s such a painful reminder at this time. I’m also trying to switch off from being pregnant just to function through the day and not just sit in tears. Tiny things seem huge at the minute. The lady at ARC advised to just be a bit kinder to myself, and if there’s things I can take off my daily load to stop things feeling so heavy then do so.

I did have the option of the CVS but my understanding (please feel free to correct me if I’m wrong), was that in the teeny tiny chance that the NIPT maybe a false positive, it could be a row of cells in the placenta with the extra chromosome, therefore if when the CVS was carried out and it took those cells baby would show up as positive even if they weren’t. Please don’t quote me on this, to be honest I’ve spoken to that many people and my heads that in the shed I may have understood wrong. However that was two weeks ago and I’ve already gone through those two weeks so I just think I’ll stick with the amnio now, even though the wait is completely horrible and I feel like I’m on another planet!

I was advised not to have 12 week screening as we’d opted for the NIPT so I turned that down thinking that we’d just stick with the results.

It really is an unbearable time, especially when life just carries on when all I feel I want to do is get in bed with the covers over my head and never come out again. The unknown is just full of so many questions. Keep cuddling your 2 year old and holding them close ❤️ I’m always here to chat to if that helps, we will get through this no matter what. Pregnancy hormones on top of what we’re going through really don’t help. Sending love xx

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Fanny81 · 25/05/2022 12:51

@Em2468
thanks so much for the response. It really helps someone talking the same language.
I am only really two days in and it feels like a lifetime so not sure how you are doing it… well done. Each day is a battle.

yes totally the pregnant hormones do not help. Even before this news I was crying at nothing so god help us now.

Re: cvs.. you are right - I have read the same on the so of course doubting if this should be my next step. I am too clinging onto the tiny hope that this is a false positive. I may see how my scan goes tomorrow (if it throws any markers up) and then discuss with midwife. I don’t want any doubts and I know the amino is really the only way.

have you not had any scans at all? maybe one with the nipt?

with the amino…I just don’t think though I can do the what would would be extra 3/4 weeks. Mentally I mean.. I applaud you for getting through.
The constant nausea and now starting to not fit into clothes makes me not sure what to do and how to continue to hide it too.

had you shared with many people that you were pregnant? And also now what is happening?

I am going to give ARC a call. I’m just worried all I may do is cry down the phone.. sure they are used to it.

hope today is getting a bit better. And thanks again for the quick response. Actually made a difference to my day.
x

Em2468 · 25/05/2022 13:07

@Fanny81 It does feel like a lifetime, I keep going back to certain days in my photos and see what I was doing that day say two weeks ago and thinking ‘wow that’s gone quick’ days go slow but weeks do seem to pass by.

Yes defo see how scan goes, I’ve had two scans but the first one was 10 weeks and they basically just said yes, a head, two arms, two legs, and a heartbeat. The second scan was a poor quality, baby in funny position, they asked me to go for a wee (bladder was too full)! then on both sides, go for a walk etc, the sonographer just said there was a heartbeat and to book in at the desk for 20 week scan and we will have a better look then.

The wait is incredibly tough, trying to be your normal self when you feel anything but your normal self. I didn’t tell many people other than immediate family about pregnancy anyway, same group of people know exactly just what’s going on at the mo. Helps with DS as parents are doing school runs etc if I don’t feel like seeing anyone, I work from home so I’m very lucky I don’t have to explain my current sorry state! I take sunglasses everywhere incase of an outburst, the celebs wear them when it’s raining to hide, that’s good enough for me!

Id defo recommend ARC, they’re there just to listen to you cry if you need to, sometimes it’s less lonely crying to someone rather than sat alone, even if you can’t speak, your releasing what’s inside and you can’t keep that all in.

You too. x makes us both feel less isolated when someone’s going through the same. Take care x

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