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. 💛

@JKGalbraithsTable
Many thanks for taking the time to check and for being so open in sharing your results. It really means a lot to me.

Hi lovely. I have absolutely no words of wisdom and everyone will have their own opinions. Just try and get some sleep tonight and somehow if the results are not great you will have clarity to make a decision that is best for you.Xx

This is a very lovely poem. Op I hope this doesn’t come across as ‘it will all be ok either way’ in a way that is unhelpful or trite. But I wanted to say that in my early twenties I worked with people with learning disabilities, some with DS. And one of the many things that was special about that experience was finding out what amazing people most of them were and what they had to teach me about navigating the world. Any child we have will suffer, sadly. But I found many of those I worked with incredibly inspiring in their capacity for joy and happiness, despite what our society would view as their deficits.

@Jollyjoy
Thank you so much for your lovely message and for sharing your experience. It doesn’t come across as trite at all, it actually means a lot to hear such a kind and genuine perspective. It’s really comforting to read about the positive and inspiring people you’ve met, and I truly appreciate the thought and care behind your words.

@Ncforthistopiced
Thank you so much for your kind message. I really appreciate your words- they mean a lot right now.

Hoping the results come soon and the best possible outcome for you ❤️ I had a NIPT and then an amnio and the wait really is tough when you’re praying for a positive outcome and can think of nothing else.

My experience of the 12 week scan was the same as yours too ❤️ the phone call a few days later was completely unexpected and floored me as I thought everything was fine! Thinking of you OP xx

I know exactly what you mean. We had lots of anomalies on the 12 week scan, and then 2 days of uncertainty waiting for the combined test results, and then when we got the 1 in 2 of t21, the way I coped was by being sure it was t21. And then the cvs confirmed it.

If your nipt comes back high chance and you decide to do cvs/ amnio the results for that come back quickly in my experience.

It is all horrendous, and we waited several more weeks to process everything, but there was never really a doubt in my mind. I wasn’t willing to risk my child’s future health and development because of the uncertain future caused by her t21, but everyone will weigh that decision differently.

I find it helpful to remember that my decision to not bring my child with t21 into the world, does not in any way mean that I don’t value the lives of people who live in the world with t21 and who deserve all the awareness/ support etc.

sending you so much love during this awful waiting period.

Hi OP, so sorry you are going through the anxiety of waiting for results, I can imagine you are experiencing so many thoughts and emotions right now.

I was given a 1 in 3 chance of DS with my first pregnancy due to an associated condition that was picked up on a 34 week scan, so although a different situation to yourself, it's that awful wait that I can relate to and sympathise with. What was reassuring was the fact no other signs were seen on the scan, the heart and all measurements etc were normal so I felt reassured by that.

We had a 6 week wait until our DD was born and we found out she didn't have DS. During those 6 weeks we had to consider what life might be like should she have it - our heads and hearts had to go there iyswim. I really hope it is good news for you and you can enjoy the rest of your pregnancy.

Same

@Bearsmumma
Thank you so much for your lovely message and for understanding exactly how this feels. The waiting really is unbearable- it’s all I can think about. I’m so sorry you had to go through the same shock after your scan; it’s such an awful moment when you think everything is fine and then get that call. Thank you again for your kindness and for thinking of me. ❤️

Op there isn't a right or wrong answer

It isn't as simple as having a baby with DS and loving them or not loving them as some posters are making out.

Its the associated conditions that DS children can have thats the unknown.

My friends son has DS he also has severe autism, adhd, problems with lungs and heart linked to his DS. He attends a special school and needs 2 adults to supervise at all times. He only sleeps 4 hours. He is nearing secondary age and still in nappies. Friend is broken and worried for his future as sevices seem to stop at 18 and respite is now none existent. She loves him deeply but if you asked her honestly if she knew what life would entail then she wouldnt have carried on with preganacy. It makes me so annoyed that everyone seems to think all DS can lead semi independent lives whoch just isn't the case.

@intrepidgiraffe
I’m so sorry you had to go through all of that. It really helps to hear from someone who truly understands how awful the waiting and uncertainty are.
I was told that if my NIPT result comes back high chance, I’ll need to have an amnio before a termination can be done. I’ve already made my decision that if it does come back high, I’ll go down that route. It’s such a painful thing to even think about, but I know it’s the right decision. Thank you again for your compassion and honesty it means a lot. ❤️

@Rainraingoaway21
Thank you so much for your kind message and for sharing your experience. I’m so glad everything turned out well with your daughter, that must have been such a long and difficult wait, and it means a lot that you understand what this feels like.
I completely relate to what you said about your head and heart having to go to that place while waiting- it’s exactly what I’m doing now.
Thank you again for your lovely words and support. ❤️

@Hankunamatata
I completely agree with everything you’ve said. It’s not about loving or not loving a baby. Of course we would love them but it’s the huge uncertainty around the possible health and developmental problems that’s so hard to face.
People often don’t realise how wide the spectrum can be and how much some families struggle, even with all the love in the world. Your friend’s experience sounds incredibly tough, and I can completely understand what you mean about how different the reality can be from what people imagine. Thank you for expressing this so clearly.

I had a nuchal fold measurement of 3.9 and 1/3 for DS.

I had extra testing which showed she didn’t have DS. Medical professionals were then convinced that she had all kinds of weird and wonderful conditions.

She is now 16 and dyslexic and autistic and doesn’t have any of the physical conditions they warned us about.

I have always been very pro-choice and thought I would always carry a DS baby to term 100%.

However, no one knows how they would react until in that situation. My husband and I barely slept for a week trying to figure out what to do if our much longed for baby was disabled.

My younger sister is disabled so I’ve seen the reality of family life with a disabled child and the impact it can have on siblings.

My main bit of advice is to please commit the time and energy to fully processing this situation, whatever you decide.

I just pushed everything down and ignored it which resulted in 10 years of poor mental health and a very messy breakdown.

There are many places to get counselling and I would highly recommend it for you and your partner.

Good luck xx

There’s no right or wrong when it comes down to making the decision if results come back positive, but it is possible to have further tests to look for associated heart issues - I went through these tests for dd (not ds but “markers” they were concerned about). My volunteers at work have ds and are lovely young adults who live semi independently with carers in groups of 3 or 4.

@SimplyReadHead
Thank you so much for sharing your story and for being so honest. I can only imagine how hard that week of uncertainty must have been for you both.
You’re right - you never really know how you’ll react until you’re in this situation. I’ve already made my decision if the result comes back high risk, but it’s still so hard to process. I think you’re right about counselling too. It’s something I’ll definitely look into once I have the results. Thank you again for your kindness.

@mamagogo1
Thank you so much for your message and for sharing your experience. You’re absolutely right there’s no right or wrong decision in a situation like this.
It’s really lovely to hear about the young adults with DS you work with. Thank you again for taking the time to write to me. ❤️

Hey 👋 this happened to me with my first pregnancy, I actually skipped the NIPT test and went straight for CVS(like amino) which gives 100% accuracy. I had a 1 in 2 chance based on the NT measurement and went through the pain of waiting for results! However despite the 1in 2 chance my results came back that baby had no abnormal chromosomes and my son was born healthy. I called in sick at work told HR what was going on and stayed in bed until I got the results. It’s so hard to anything else with the worry. I hope you get your results soon 🙏

nothing useful to add but wanted to say that I have been so moved by the stories i have read on here and I can only begin to imagine how overwhelming and engulfing it must feel to be waiting for the test results. OP you sound so lovely, kind and warm hearted and I wanted to let you know that I will be thinking of you.

Hi OP. So sorry you're going through this. It's so daunting and scary and time just goes so slowly. I wanted to chime in and say that whatever the outcome, it is entirely your decision and yours alone. It's no one else's business and whatever you decide is the right decision for you and your family. Do take your time to ask questions so you can make an informed decision should the test come back positive.

It really really sucks and I hope you get your results soon. 💐 I've been in your situation years ago, albeit with a different condition. Please do feel free to PM me if you ever want to talk or if you have any questions about testing etc. I researched the heck out of it back in the day and still have a decent understanding of how it works. Wishing you strength and good vibes.

This happened to me too. Once he was clear for DS they kept coming up with other things that might be wrong - enlarged ventricles in his brain, probably would have learning difficulties; too much amniotic fluid, probably meant his oesophagus was not connected to his stomach and something else that I can’t even remember at 15 years distant.

He was born entirely normal. They just shrugged!

@TinyHeart just wanted to send a bit of solidarity as going through the same thing too. I had a normal scan on Tuesday at 11w4 where NIPT bloods were taken. Yesterday we had the call to say the result for Down syndrome was ‘high risk’ meaning a more than 99% chance. I hope you have a different result, but wanted you to know you are very much not alone.

Hi op, hope you’re ok. Name change to the one I use when talking about this.

I have some experience with this. Firstly I had a baby, I had the NT combined test and the risk of DS was 1 in 2000. The baby was born with DS. This was obviously a huge shock. I didn’t cope with this at all and the baby was placed for adoption.

later I had another pregnancy and the nuchal fold was 6.5mm. I was given a risk of DS of >1 in 2. They said there was only a very small chance everything was ok. I had the CVS and it was clear for all main chromosome abnormalities. I then had some fetal heart scans as a large nuchal can be a sign of heart issues. All clear. That child is now 13 and all is well.

obviously I did a lot of research the second time around while I was waiting for results. There were plenty of good news stories, and obviously some not.

I wish you well. This is such a hard time and you have to do what’s right for you. People will judge (either way), but it’s your life.

@Aberdeenusername
Thank you so much for sharing your story. It really gives me a bit of hope hearing that everything turned out well for you after such a worrying result. I completely understand what you mean about not being able to focus on anything else, I feel exactly the same.
Knowing that I might get the call today honestly makes me feel sick. I just keep thinking they’re going to say it’s high risk. It’s such an awful wait. Thank you again for your kind words and for thinking of me. 🙏