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?

@Peachmelbaa the NT measurement was in normal range. My pap a was 0.7 but my HCG is 1.97, I was told the optimal for both is '1', and they usually aren't worried about a higher HCG result unless the pap a result is low. What were your HCG results?

@HopingSoHard A horrible shock after a positive sounding scan which should have been a relief after your previous loss. I bet it feels like you can't catch a break.

Keeping everything crossed for you both get positive news by the weekend. I'm hoping for mine first thing Tuesday

Hi @Chica1990 - just wanted to say my NT measurement was normal, my HCG was 2 and my Pap A was 1 - combined screening gave me 1 in 66 for downs and NIPT came back all fine ❤️ I’m no expert but those numbers don’t sound far off normal to me? Can I ask how old you are? I guess not very if you were born in 1990 haha but I do feel these tests are putting so many women through so much stress and in many cases it’s age that feeds into their stats as much as hormone levels / the actual testing

Hi @HopingSoHard I just wanted to pop onto your thread with my experiences. I came back as 1:3 for DS in the combined test and NIPT went on to confirm the diagnosis. I didn't have the amnio (because I couldn't accept the risk). My lovely girl is 9 now. If you have any questions about having a child with DS I'd be happy to talk. Wishing you a quick result and peace during this agonising wait.

@jlverity it doesn't seem that different at all does it, I wonder how much the 0.3 difference of Papp-a throws it off. I'm 34 which I agree isn't old but maybe it is in terms of pregnancy? Are you in your 20s?

No I’m 39! 80s baby here that’s why I thought you must be younger with 1990 in your handle haha ❤️ But yes no idea why it would be so much different? Was your NT only just normal? Ours was 2.7 which I think is quite high but under 3 is normal I think…

The midwife has called me this afternoon with news that the NIPT has come back as low risk. What a huge relief and I hope it’s the same for you both @Chica1990 @Peachmelbaa

@HopingSoHard That’s wonderful news. I also got a call today with my results and they came back low risk too!

Oh that’s amazing news both, so happy to hear it! The relief must be immense! ❤️❤️❤️

Amazing, so happy to hear it! 🥰

It really is a huge relief. Thank you for being here while we’ve been waiting and for sharing your experience!

Thank you for sharing your experience and I’m so glad to hear your little girl is doing well. It seems like she has a really lovely mum too 🥰 my NIPT came back low chance today but I’m very grateful of your offer to chat. Hopefully if anyone else looks at this thread in future then they will see your kind offer and be in touch with you x

Just to pop in and say that I had a high risk result and then a positive NIPT, and now I have a daughter with DS.

I felt all the emotions, anxiety, panic, concerns going through her pregnancy.

She's now a wonderful blessing, a huge personality and so worthwhile. Some bits of life are harder, but other bits are much much better.

I hope everyone on this thread gets the result that's right for their family.

@jlverity NT was in normal range, most measurements were 2.5 but one was 3, they said under 3.5 is normal. I wondered for a sec how you knew I was 1990 😅 baby brain.

@HopingSoHard @Peachmelbaa this is AMAZING news so happy for you both! What a relief. Not feeling great at the chances of all 3 of us getting positive news but I'm still holding onto hope x

@Chica1990 I think you’ve every reason to remain positive 🥰 17/18 chance of your little one not being affected is well over 90% so keep strong and hopefully results day for you comes soon!

I was in similar situation with my baby, I had 1 in 24 for DS due to bmi, low Papp an and high Hcg, I think pappa a was 0.31 and Hcg towards 2? NT was normal I had 2 x nipts as the 1st one was inconclusive and it came back low risk.
For me I stayed at work to busy myself but I did struggle with anxiety while waiting. I obsessed over looking at my 12 week scan for a nasal bone , which obviously it's a small picture and difficult to see at 12 weeks!
They turned the results round in 3 days each time so i was very lucky.
Came back low risk.
I spent a lot of time on Reddits /nipt site as it was useful to read experiences on there too.
It's hard, so just look after yourself.

If i have another baby we will pay private for nipt

Haha it’s so funny you say this, our 12 week scan picture we both commented this child has a massive nose! And I did very randomly and probably inaccurately take some comfort in that 😂

We got the call today to inform us the baby is low risk! I was actually queuing in Primark and couldn't keep it together, I ended up crying/wailing with happiness. A manager actually came to check on me! Can't believe it

What great news for you all

Oh what great news! I’m pleased you got your results so quickly and can breathe out for the weekend now. I feel like we all need a large glass of wine after all that anxiety…if only that was recommended during pregnancy 😂

Oh such amazing news for you all! And yes I’ve thought that many times in this pregnancy - somebody hand me the wine! 🍷 😂

What lovely news, I’m so happy for you!

I found out yesterday at 36 weeks, my babies femur bone is off the chart at 1.7% reading a few posts I'm starting to worry about this being a risk for DS (I had a low nipt result and evrrything else looks normal). Have you had your babies yet, how did things turn out? I have been referred to fetal medicine now to check on things.

Sorry to hear you’re having this stress! I’m around midway through my pregnancy now and all was looking good at the 20 week scan. Try not to panic too much as a low chance NIPT for DS is typically very accurate and if all other measurements look good then that’s positive. I know sometimes that estimated growth can be really variable/inaccurate so hopefully when fetal medicine check you over they are happy. Will be thinking of you x

I’ve just realised you must have had your baby by now! I hope all is well? ❤️

@jlverity thanks for checking in. He came 40+3. everything was fine, baby was normal.... maybe short legs.... but he looks all in proportion to me and baby suits all fit normally 😅
I had a scan with nhs at 36 weeks and 39 weeks and femur was growing on the NHS 5th% even though they measured it smaller 1.5mm smallerthan the private scan....apparently the private clinic uses a different scale to the NHS so it was coming up at 1.7% on their scale but 5% on the NHS .... I realised after being scanned by multiple people that the numbers can wildly vary, due to them working in mm. One person had 47% for abdominal circumference then the next had 83% then another had 60% 😅 I hope you are doing well xx