High combined screening risk in pregnancy and waiting for NIPT

[TheCandidPug]

Good morning everyone.

I had the dreaded call yesterday from the fetal-maternal midwife to say that my risk for Downs Syndrome and PE was in the very high risk category.

I am 39 FTM multiple failed IVF transfers and been on this journey since my early 30's. However, this pregnancy is spontaneous 🙌

I had a 12.3 week scan and I thought it was all good, although the midwife didn't really explain or say much to me.

I had the combined blood test which has come back 1:10 chance of DS.

hCG B - 2.22 mom
PAPP A - 0.33
NT - 1.29 mom (2mm)
UTPi - 1.23 mom

Ive been offered the NIPT, which I'll have on Monday, but I just feel so devastated and anxious.

I know my chances are high and the thought of anything being wrong with my precious baby terrifies me. I suppose i'm just starting this thread for other mums to be in a similar situation for a bit of peer support. instead of going crazy talking to an AI machine, which is really inhumane and also a bit scary.

Happy Friday expectant parents ❤.

Sending you lots of well wishes @TheCandidPug

There’s quite a few older threads on here with mums in a similar situation. We had the NIPT test privately as our combined screening result came back low chance, but just above the level we would have been offered more testing. It’s a long wait for the results & happy to chat if helpful

Hi LPR16
Yeah, I’ve seen the older posts online, but they’re pretty historical now so I thought I’d start a new thread, partly to see if there were others in my position going a bit crazy too. Now it’s 2026 and AI is a thing, it’s created a whole new dynamic to stress and anxiety.

I really wanted to connect with some real women going through it right now. Those old threads are lovely and supportive, but that was then and this is now, so I’m hoping this one gets some attention. It feels a bit lonely sitting with all of this on my own.

Anyway, thanks so much for responding. The wait is terrible isn’t it — I can’t eat or do anything constructive at the moment. My other half has been deployed and is away until September, and I think he doesn’t really know how to deal with my obsession. I’m probably making him more miserable, and of course he’s isolated too.

My family are super supportive and whatever the outcome, we will be keeping our precious angel. I just hope I’ll be good enough for them.

I really hope you get the results your are hoping for! when did you have your test?

Hi just wanted to say I’ll be thinking of you. I was in your position a few weeks ago. Combined came back 1/68 for Down’s. Had NIPT the day of the phone call and then waited 6 days for results (including over the weekend). It came back low chance so that was the end of the process. I really wish you well. Did you get recommended ARC? I used their phone line once in a previous pregnancy when we were having genetic testing. Just someone caring on the end of the line who understands, didn’t judge, can listen. Especially wish your partner being away, it sounds lonely. All the best to you.

@hollyhocks2 Thank you so much! I am absolutely terrified. I didn’t expect this and had started telling people too. As this is my first pregnancy I didny really know what to expect and it’s been such a rollercoaster with infertility, I was so excited to get this far. This just feels like another roadblock to my goal of becoming a mum/

I’ll have this blood test tomorrow and take it from there. I’m just praying that the outcome will be a good one for my precious baby.

thanks again for all your support ❤️

I hope everything works out well for you. Its such a stressful time.

Hi OP, firstly congratulations on your pregnancy, especially after such a long journey. I was in your position a couple of years ago and had a 1/13 risk for DS but thankfully our NIPT test came back low risk and our dd was born prematurely but healthy. I’m sure you’ll be given more information when your have your NIPT as to why you’ve got a high risk score…. Mine was partly age and partly they I had a low Papp-a and I see yours is low too, so perhaps this could be a contributing factor. Wishing you the best of luck in this anxious time.

I too had a long fertility journey and got pregnant at 39… i had a 1/7 chance of Down syndrome with my 17 month old.
i had a the nipt and it was low risk. I considered amino but I would have gone ahead no matter what so I figured no point.

baby boy born healthy. It is the worst thing ever though waiting and the anxiety!

my results were due to age and low pap a I think - it was so scary!

Evening everyone!
Thank you all so much for your messages. It’s been really comforting to speak to people who have been through this and truly understand.

It seems my result is mainly due to the combination of low PAPP-A and raised hCG. I found that a bit surprising because I had very few pregnancy symptoms and wasn’t really sick until around weeks 9–11.

After a failed embryo transfer in February, this little fighter somehow managed to implant naturally and has been thriving so far without any IVF. That already makes them incredibly strong in my eyes.

No matter what the result is, I’ll continue to love and support my baby in every way I can. I’m hoping for good news, but until then I’m just taking things one day at a time. ❤️

My good friend had a 1:12 risk come back and went through the whole rollercoaster of emotions. Her baby was fine, no health concerns at all. When they tell you the risk, you jump to ‘that’s a really high chance’ but 1:10 means of 10 of you in that situation, only 1 of you will be dealing with that outcome. In a lottery where you only had 10% chance of winning you’d assume you’d probably lose!

Congratulations on being pregnant and growing your baby. You sound lovely, just try to work with the ‘now’ rather than the ‘forever’, if that makes sense.

im going through this right now too.
I just turned 40 so 39 when conceived.
High risk Nipt, 1 in 5 combined and positive t21 cvs :(
im waiting it out for amnio 😢🙏🏽
I hope your Nipt comes back quick and everything turns out ok for you xx
Its such a stressful time 🥺

I’m sorry that you’re having to face this without your partner @TheCandidPugbut glad you’ve got a great family supporting you.

I’m glad a few others with similar experiences have reached out now & hopefully you’ve got some support from here for the next couple of weeks.

My NIPT test was back in April, all came back ok though a worrying week of waiting for the results but I tried to keep as busy as possible

Morning @diamonds2023

I’m so sorry you’re going through this too. Being in the waiting period myself, I understand how emotionally challenging and draining it can be. After a positive CVS result, I can only imagine how difficult this must be for you. I’m really hoping you get the answers you need soon, and wishing you strength whatever the outcome. ❤️

It really is such an anxious time. One thing that’s brought me some comfort is reading the stories on Positive About Down Syndrome: https://positiveaboutdownsyndrome.co.uk/international/

Whatever happens, reading about other families’ experiences has helped me process my emotions.

I’ve come to realise that people are free to make the choices that are right for them and their families, and there shouldn’t be any judgement. Over the past week I’ve had time to reflect, and no matter what happens, I feel incredibly grateful for this little life. After everything it takes for a pregnancy to begin and continue, every baby is a remarkable gift and deserves to be loved and supported.

@LPR16

My family are incredibly supportive. Although I live in England now and they all live back in Wales, they’re always at the other end of the phone, and my parents are ready to drive here at the drop of a hat if I need them. Even with that support, it can still feel very hard at times.

Being in the military can be quite isolating, but it’s also given us the opportunity to save money and become independent. I’m really grateful for that, as it’s put me in a good position to support my child.

I’m so glad your NIPT came back low risk. That must have been such a huge relief. I’m hoping for the same outcome, but I also understand that it doesn’t always work out that way, and I think that’s where a lot of my anxiety comes from.

One day at a time is definitely the right approach. Right now you’re pregnant and as far as you know all is well, though you are going to get some more detailed information soon. I understand about the sense of another roadblock after infertility. I’ve had secondary infertility in between these two pregnancies that have each involved question marks around genetic conditions so I know how it feels to get pregnant and be grateful and then have another hurdle thrown at you - it’s relentless. So much for enjoying every moment! It sounds like you’ve done a lot of processing and you also sound very strong.

Hope the NIPT goes smoothly today and that the midwives are kind and helpful and you come away feeling informed and supported.

I'm so sorry you're going through this. After such a long and difficult journey to pregnancy, it's completely understandable to feel scared and overwhelmed.
A high-risk screening result is understandably frightening, but it's important to remember that the combined screening test is not a diagnosis—it only estimates the chance of a condition being present. The NIPT is a more accurate screening test and may provide more clarity while you wait for next steps.
Right now, try to be gentle with yourself and take things one step at a time. You're not alone, and many parents have been in this difficult waiting period and gone on to receive reassuring news.
Sending you so much love and strength while you wait for your NIPT results.

@Acadetu It really is. It’s got me in such a tail spin!

bloods all taken now, so the proper wait begin.

@TheCandidPug so much anxiety but you have a wonderful attitude.
If your precious baby does have DS there will challenges but also a great deal of joy and you will cherish every stage of progress rather than take it for granted. They will always be very special to you. Please keep us updated. 💕

Sending lots of love to you. We had the same odds and our baby did not have T21, but the wait for results was awful. Like you, we’d have kept them either way, but the experience of amino wasn’t good (doctors immediately became very serious when we got our numbers and assumed we would TFMR without really listening). We also had IVF pregnancies after a bumpy ride - I believe IVF meds can give odd results for the quad screening. Thinking of you and sending lots of love.