1 in 2 chance for Down Syndrome – waiting for NIPT results and feeling overwhelmed

[TinyHeart]

Hi everyone,
I’m 33 and just got my combined screening results — I’ve been told there’s a 1 in 2 chance that my baby has Down Syndrome. I’m completely devastated and can’t stop thinking about it. This is my first baby, so I’m finding it really hard to cope with all this uncertainty.
My test results were:
• NT: 3.1 mm
• HCG: 2.88 MoM
• PAPP-A: 0.3 MoM
(taken at 11 weeks + 6 days)
I had my NIPT done two days ago and the earliest I’ll get results is next Friday, or if delayed, possibly the following Monday or Tuesday. The waiting is awful, and I keep thinking about the worst-case scenario — that I might need to consider a termination if the NIPT confirms Down Syndrome.
My 12-week scan showed that the baby looks structurally fine, with a prominent nasal bone and no visible facial flattening but I’m not sure how much that matters at this stage.
Has anyone else had similar results and gone through this waiting period? How did you cope? What were your outcomes?
Thank you for reading — I’m finding this really hard and would really appreciate kind, gentle replies. 💛

ridiculous statement. there are things that happen in every life that cause suffering of course, that doesn't mean that the decision to not start a life with a guaranteed high amount of suffering is wrong.

@MissDoubleUthis is a remarkably ill informed comment. Of course we all do everything to support our children with whatever challenges they encounter when they are here living in the world. And I’m sure the same would be true of any of us if we had a birth diagnosis of Down’s syndrome or anything else. But a prenatal diagnosis is entirely different - you are then making the active choice to bring a child into the world who you know will have serious challenges, alongside the uncertainty of how severely they will be affected. IF op does go on the get a t21 diagnosis for her baby and decides to end the pregnancy, she would be amongst the over 90% of people in her position making the same decision. Suggesting all of those people can’t give any child the care they deserve is an outrageous comment and you should be ashamed that you felt the need to share this view on op’s thread in which she is seeking support.

To add to this, and as someone who has just had a high risk result confirmed on the NIPT, there is an 80% chance of any Trisomy 21 pregnancy miscarrying, and this remains high, though slightly reduced even after 12 weeks. This made me feel more comfortable in my decision and perhaps it might the OP, though of course hope she has a low risk result. Sending you love and luck at this shitiest of times x

Why is DS a guaranteed “high amount” of suffering? This is a disgusting misconception. Have you met people with DS? Literally the happiest group of people I know. Most of the difficulties faced are due to other people’s ignorance, not DS itself.

I know several people with DS. some are happy, some are not. without exception they have all faced physical and mental difficulties throughout their lives that have caused them and their families suffering.

I’m sorry must be very stressful for you - I hope you speak to some Down syndrome support groups. There are a few on face book too.

From my friends with Down syndrome kids there appears to be a spectrum. I read an article once on a woman who was diagnosed with Down syndrome as an adult, she had mild characteristics.

there is a young mum on my Facebook feed or maybe tiktock whose first baby (also in her 30s) had Down syndrome and she enjoyed her daughters approach to life so much they adopted a Down syndrome brother for her.

this is really a personal decision for you and your family

There is a large list of comorbidities that anyone with a high risk or diagnosed T21 pregnancy must consider. It is incredibly unhelpful you to peddle the 'people with DS are all happy' line.

It’s really ignorant and there is no way of knowing how severely a child with DS will be affected prior to birth. It’s a very personal decision and not for anyone else to judge. Thankfully we live in a society where we can make our own choices on these difficult matters.

Wishing OP love - I’ve been in your shoes and I hope the outcome is a good one for you but either way I’m here if you want to message me.

"The happiest group of people" is such an ignorant generalisation. And I too used to believe it until I worked with adults with DS. The problem is that the public only tends to see people with DS who cope well and are able to integrate into society. The flip side is those who are in supported living. Some have behavioural issues and are very violent. And thats without going into the health issues that can also go alongside DS. Its a whole spectrum.

Mosaic DS is incredibly rare.

I'm thinking of you OP and keeping everything crossed.

Hello @TinyHeart I just wanted to send you love and some solidarity whilst you are in the awful, awful waiting period. My story is a little different in that we had a private NIPT which came back high chance for T18 (Edward’s syndrome) which meant the NHS didn’t do the combined screening as the NIPT is more accurate. I spoke to ARC a few times who were great and the screening midwives at the hospital and did a huge amount of research. All of which said the NIPT isn’t diagnostic. It’s high or low chance and there is approximately a 1 in 5 chance of a false positive.
The only way for certainty was the CVS or amnio so I opted for the amnio which as I’m sure you’ll know can’t be done before 16 weeks - cue more agonising waiting. There was then a problem with blood in my sample and they had to grow baby’s DNA which took a further few weeks. The waiting was like a kind of torture I cannot explain but I send love and empathy to anyone in that situation.
Sadly the amnio finally confirmed the NIPT was correct and we had a TMFR just before 21 weeks.
6 months later I am now 11 weeks pregnant again and am waiting to have the scan and NIPT done on Friday and steeling myself for the wait for results. The not knowing and wondering was almost the most hideous part.

Anyway I’m sorry for rambling, I just want to say whatever you make for you, your current and future family will be the right one for you. And whatever happens you will be OK, even if you don’t feel like it for a long time.

I hope you get very good news, very soon. Xx

Difficult to find any words to help op. I was in a situation many years ago with a high risk for downs and didn't know for sure until my baby was born. The only test was amnio which we didn't have.

I think as horrific the experience was I was a stronger person because of it in some respects. I do think it took its toll mentally as even though he didn't have downs, I spent many months after he was born waiting for some medical issue to present. It took away my blissful ignorant belief that nothing bad will happen but I found strength I didn't know I was capable of and I found a way to be okay with it. I was so much more grateful of what I had especially friends and family.

You will find a way through this and you will make it okay.

I have everything crossed for you and I believe (as annoying as that is, how could I know?) that your results will come back negative. I can't wait for that update.

Hi sorry that you are going through this. Just wanted to share our story. We had a NT measurement of 6.6mm earlier this year. We went straight for cvs testing within 2 days. But sadly her heart had stopped once we arrived for the cvs needle testing. I had miscarriage surgery and they tested my placenta after. It confirmed she had T13 (patau). We are now 23 weeks pregnant with a healthy baby boy. We have been very well looked after as I was now classed as high risk. We had nipt at 10 weeks and an extra scan. All come back low risk and I’m finally enjoying my pregnancy. Hope everything works out for u xx

Mosaic DS is very rare - under 5% of cases I believe. But that doesn’t mean that all kids with the full Trisomy 21 are equally as affected. Some will remain non-verbal (although many of those will be able to communicate via Makaton or other means), but many, such as my daughter will learn to speak, read, write, do simple Maths…

My daughter is 10 with a reading age of almost 7 (no mean feat, given people with Down’s syndrome are visual learners and there’s such an emphasis on phonics at school…) and is a much more enthusiastic reader than my actual NT 7 year old.

Following your thread OP and thinking of you, the waiting is so stressful x

UPDATE
I’ve received my results. The NIPT has come back as high chance. I went to the hospital today for the CVS, as they explained it’s needed to confirm things before any next steps can be taken.

After so many days of stress and sleepless nights, I actually feel a little relieved now that the waiting part is over. I’ve had time to prepare myself mentally for whatever comes next.

I just want to say a huge thank you to everyone here who offered kind words, shared experiences, and checked in on me. You’ve all been more supportive and understanding than I could have imagined - honestly more than many friends or family, because so many of you truly understand what this waiting and fear feels like.

For anyone else going through the same thing - please know you’re not alone. If you ever feel like you need to talk or share what you’re feeling, my DMs are open. ❤️

@DragonflyRuby
Thank you so much for taking the time to share your story and for your kind words - they truly mean a lot, especially coming from someone who has been through such a similar and painful experience. I’m so sorry for what you went through with your previous pregnancy; that must have been absolutely heartbreaking.
You’ve described the waiting perfectly. It really does feel like torture. Knowing that others have felt the same and somehow found their way through it brings me a bit of comfort.
I’ll be keeping everything crossed for you and your new pregnancy. I hope your scan and NIPT on Friday bring you calm and reassuring news. Thank you again for your support - it really helps more than you can imagine. ❤️

@SummerHouse
Thank you so much for your kind words and for sharing your experience. It really means a lot to hear from someone who’s been through the uncertainty and understands how mentally exhausting it can be. I can only imagine how difficult that waiting period must have been for you, not knowing until birth - that kind of strength is incredible.
What you said about finding strength you didn’t know you had really resonated with me. I’m hoping I’ll get there too, somehow. ❤️

Sending love. I’m glad they could do the cvs today - hope you’re not feeling too sore. My cvs results were quick.

If the cvs confirms t21, don’t feel you have to rush the next step. You might want it all over, but equally you can take time if you want that, for example I had decided I would end the pregnancy but took some time to process things, plan what I wanted to take with me etc. Whatever you decide will be the right thing for you 💛.

There are people on this thread who can probably give practical advice when the time comes about things to take, things to think about, so do use us if that would be helpful. But equally you don’t owe anyone anything so if you need to step away from this thread then that is also completely understandable.

@RT1620
Thank you so much for sharing your story. I’m so sorry for what you went through earlier this year, that must have been absolutely heartbreaking. It’s really comforting to hear that things are going well with your current pregnancy and that you’re finally able to enjoy it.
Stories like yours give me a bit of hope that there can still be light after such a difficult experience. Wishing you a healthy and smooth rest of your pregnancy you truly deserve it. ❤️

@intrepidgiraffe
Thank you so much for your kind message and for being here for me throughout these past days. Your words and support have truly meant a lot. ❤️
During the long wait for my NIPT results, I had a lot of time to think things through, and I’m certain that if the CVS confirms the result, I want to go ahead with the termination as soon as possible. I just want to get through it and start healing.
The CVS was quite painful, I almost fainted but honestly that’s nothing compared to the emotional pain of waiting and fearing the worst.
Thank you again for checking in and for your kindness. It really has helped more than you know. 💛

I’m so sorry you didn’t get the result you were hoping for. I hope the cvs isn’t a long wait for you and your have lots of support I. Real life.

Although the long wait has been awful for you, I’m really glad that you know exactly what you want to happen next, I was the same by the time the pregnancy ended, and although there have been hard times, I have never once regretted the decision 💛

Sending love, have not stopped thinking about you all day ❤️❤️