1 in 3 chance of Down’s Syndrome on Combined Screening

[HopingSoHard]

Hello,

I’m wondering if anyone has had a similar experience or has any advice on coping at the moment?

I had a call from the fetal medicine team to advise that our baby has a 1 in 3 chance of Down’s Syndrome from the combined screening. This was due to a high hCG and low PAPP-A although they didn’t provide the numbers. The NT was normal at 1.4.

We’ve had another scan with a consultant who advised they did not see anything out of the ordinary but explained this can still be common in those who do go on to have Down’s Syndrome confirmed.

We have opted to have NIPT as the team were reassuring of its accuracy at detecting Down’s Syndrome. We did feel the midwife was a bit surprised at us not choosing to go straight for invasive testing though. Due to a previous miscarriage I would have found the small risk of this difficult.

Has anyone had a similar experience or have any advice on coping with the 7-10 day wait for results?

I am relieved to find a thread relating to my scenario.
I'm 33, first pregnancy, 12+4 weeks.

Had the dreaded call to say 1 in 3 chance of downs syndrome due to low papp-a
NT was 1.8 at 11+5w and was told this was normal. Not an easy scan as I'm a higher BMI, and scan photo was upside down and not very clear.

Going for NIPT today and I am beside myself. I feel like the fetus face profile looks flat on the scan and I somehow already know the result, and just want it all to be over. I have to remind myself that the scan wasn't clear, and NIPT will provide a clearer idea of what is going on.

I will however be quite distressed if NIPT comes back as low risk. I hate the odds system and feels like a terrible betting system. I honestly can't stop crying and I'm scared that if the slim chance this baby is ok, that I'm now harming them with my stress levels.

Sorry for jumping on your thread, especially after happy news, I feel better for just typing this out. Wishing you all the best for the rest of your pregnancy, and thank you for sharing your positive story that offers a glimmer of hope.

Do you know anyone with downs? It's not a death sentence for a child. It's a probably a different life. Severity varies. But often people have a good life expenditure now, and whilst rely more on patents to later in life, in my experience they aren't suffering and still experience joy in life. It's just different.

Perhaps whilst you are waiting for the results, rather than worrying about unknowns, you can think about whether you can adapt for a child with downs. Perhaps if you realised that actually you can adapt, that the results are less important. Either way, it would take many people a lot of time to think through as it's not something you would have had to process before.

I’m sorry that you find yourself in the same scenario as I did. It really was one of the most difficult weeks of my life while we were waiting for the NIPT result and I was googling all sorts and winding myself up.

It’s a good sign that the NT was normal and to be honest I convinced myself that I couldn’t see a nasal bone in the scan picture and then once the NIPT came back low risk and my head went back to normal I was able to see it!

If the NIPT comes back low risk for you then the odds are then very much less than would be average for a lady our age, although I appreciate it’s not a guarantee. I’m nearly at the end of my pregnancy now and have had growth scans due to the low Papp-A and all looks well in terms of heart, other organs and face etc.

Remember I know exactly how you feel, my biggest regret is that I wound myself up on Google and it would have been stressful enough without that extra nonsense. There’s still more chance baby doesn’t have DS than does so please take care of yourself and not cross any bridges that you haven’t been forced to cross xxx

I don't think they had the NIPD when I was pregnant. I was over 40, I'd never succeeded in getting pregnant before. I did have an amnio and it was fine and DC not Downs. Sorry if this isn't much help.

I just wanted to update the thread in case it’s useful for others. I’ve now had my baby and the NIPT result was correct in that she is not affected by DS. There also does not appear to have been any issues secondary to the low papp-a as her growth was very good throughout the pregnancy ❤

@HopingSoHard thanks for updating, congratulations on the birth of your baby girl 💕

I’m currently 38+3 so not long to go now!

@ThatWarmMember just catching up on this and wondered if you’d had your results yet? Is all well? 🤞

I've just had a similar result. 1 in 3 chance. I've had no letter with the results just a phonecall so don't know what my bloods were showing. My age is a huge factor being 45. I'm absolutely devastated. I've been booked in for further bloods next week. How do you cope?

I’m sorry you’re going through this. Have you had your bloods done today? I also was informed by phone call and didn’t have the actual blood results. As soon as I heard it was a lower chance result on NIPT I regretted how much stress I had put myself under thinking the worst for the week while we were waiting on news. Try to do whatever works to keep yourself sane- for me it was continuing to work but doing so from home so I didn’t need to see my colleagues who Id just announced my pregnancy to a few days earlier. I’ll be thinking of you x

It’s so hard I was in a similar situation this month. Remember that’s still 66% chance they DONT have it.
for me the letter came to my email and onto my badger notes app after the call.
will be thinking of you in those hard waiting days xx

My next bloods are due tomorrow. Fingers crossed. I'm a mess but trying hard not to be. The baby is so wanted and so loved already. We just need answers I stead of ifs buts and maybes. Thank you for your well wishes. Xx

The waiting for the results for the NIPT blood test is so hard. Hopefully only a 4 day way now. Driving me insane. Emotions are so high

Agreed it’s so hard! I had my NIPT on a Tuesday afternoon and got result Monday morning so you hopefully aren’t too far off.
that included them positing it to London xx

Mine had to go to Cardiff. Had a bit of spotting this morning. Waiting now for epau to contact me at 8.30. It's one thing after another isn't it.x

Hang on in there as best you can! It’s almost exactly a year ago that I was going through this and now just back from taking my healthy baby to a sensory class. There’s every hope for you too xx

We just got our results back. It's very likely our baby will have downs. It's OK. I'm sad but happy the tests are done and we can now prepare for what's to come. Thank you for listening to me.xxx

@Victoria80 It must be so overwhelming. I hope you have some people around to talk to in real life. and offer support for what ever you decide xx

I’m so sorry. I had a high risk NIPT score at the end of October, it was devastating. I will say that for me, that was the worst day. Not that the rest of it wasn’t awful and sad and long and exhausting, but that was the worst day. I’m slowly starting to feel more like myself. ARC are wonderful. I literally just cried down the phone to them more than once. If you have any questions at all, please don’t hesitate. As many said to me, you will get through this.

I’m sorry that you are in this situation and I know you’ll make the right decision for you. The people at ARC (Antenatal Results and Choices) were lovely when I gave them a ring while waiting on NIPT results x

4 weeks to go. I'm at peace with the possible down syndrome my little man be born with. As far as they can see all the scans are good and he's got no "soft markers" of downs. So if he is born with it then as long as we can give him the best life ill be a happy mummy. If he doesn't have it, well, that'll be amazing. What will be will be. Just looking forward to this little guy who has fought to be here.x

Hi @Victoria80 this thread just popped up for me because I commented back when the OP was still waiting for her results. I just wanted to wish you well in the final few weeks of your pregnancy and say that I’m always happy to chat, on this thread or by PM, about Down’s Syndrome. My stats came back as a 1 in 3 chance of my second child having DS, ten years ago, and this was confirmed by the (then brand new) NIPTy test. DD is ten now and does indeed have DS, she is awesome 🤩 and I’m always happy to talk about her xx

Is age 34 a high risk for Downs, thought it was 40years +. Also smoking and obesity are not risk factors either?

DownRightAmazing that would be amazing. Thank you. It would lovely to hear about your experiences.xx

DownRightAmazing that would be amazing. Thank you. It would lovely to hear about your experiences.xx

I’ve also got a 10 year old DD with Down’s Syndrome who is awesome, but we found out postnatally. She has no heart, bowel or hearing issues, took milestones at her own pace, but has thrived at mainstream primary school, loves reading, tries so hard at writing, has a whole load of friends and is a brilliant big sister to her two younger sisters (well, she can wind up the 8 year old on occasion, but loves cuddling and reading to the 5 month old!).