1 in 12 risk for downs

[CharlieKnee]

Hi there,

I had a call from the screening midwife yesterday and have spent a lot of time reading threads and other peoples experiences on here, not sure if I am looking for reassurance or not!

Our results came back as 1 in 12 risk for Down’s syndrome. This feels particularly high for me but wondering if anyone has had similar measurements?

I’m 12 weeks + 2. Scan was 4 days ago, was told all okay at the scan.
I’m 32yo, NT was 2.3mm, hcG is 4.1 and PAPP-A was 0.6. The midwife on the phone originally that it was likely my high hcG and low pappa but it does say on my results letter that my age, the NT and the bloods are all contributing factors.

Had NIPT done today, now a long agonising wait for results up to 10 days. I haven’t been able to concentrate on anything else and it’s been a bit of an emotional rollercoaster 😭

I've no wise words I'm afraid but didn't want to read and run. I hope the results go well.

NIPT might still be wrong. A friend friend's NIPT came back 99% of Downs but the amnio was all clear. But if it was positive, a lot of people with Downs live really fulfilling lives. Sending hugs xo

I hope you get your results quickly and there’s nothing to worry about.

I can’t remember the exact measurements we received but DS was 1 in 19 and he turned out absolutely perfectly (he is 19 now extremely intelligent and sociable). I was an older mum of 38 when I had him.

I remember it was an awful worrying time when we received this result and it affected my entire pregnancy and I was still worried even after he was first born.

Take care OP 💐 🤗

Another way to look at it is it's an 11/12 chance not downs.

And if it is downs it doesn't tell you anything about how mild or severe it will be. Or how you'd feel about the possibility of abortion

Appreciate that it's a stressful time. You mention only screening, which calculates risks, not definitive answers. Were you offered amniocentesis? That will tell you either way. Amniocentesis comes with risks, so it comes down to whether you wish or need to know. Hope it goes well.

Hello. I am so sorry you’re going through this. I have been through it too a number of years ago so I know how you are feeling. I imagine your heads in a whirl and you can’t think of anything else. What I can say is, that even if child does have Downs it’s not as bad as you imagine. Having a child with downs can bring about a lot of worry but also joy. We have learned so much from our young person with downs. Please rewatch out to positive about Down’s syndrome (pads) on Facebook. Sending you a big fat unmumsnetty hug.

I hope it turns out okay x

We were offered CVS, I’m too early for amniocentesis or the NIPT testing. We opted for that first as non-invasive which midwife said is 99.9% accurate but if that comes back as higher risk then we will be offered amnio but the midwife also said she hasn’t seen anyone come back with a high risk result that then has a clear amnio.
I feel like the figures are against me and I’m anticipating a high risk result from
the NIPT 😢

Aware of all the positives of continuing a pregnancy and the potential for a happy healthy baby with Down’s syndrome, we do have other factors we need to take into consideration; other children with needs mainly

One of mine was 1 in 4 Down's risk and only because they stop measuring at that point, understandably. There were many tears during the long wait for amnio results, despite very supportive colleagues, family and a relatively tough mentality. On a subsequent pregnancy, the miscarriage risk was upped to 25% due to a difficult amnio, which I never regretted (post-procedure anyway, but the excellent foetal med consultant was brutally honest, as I wanted) because I had to know. They were all thankfully okay, so it's reasonable to stay positive and expect it all to go well. Rooting for you!

I hope you get your results soon - the waiting is really, really hard!!

I had a 1 in less than 5 result for DS based on a 3.3mm NT, a 3ish hcG and I’m 36. I can’t remember exactly what my Papp-a was but I believe it was a little closer to 1.

We choose to do the same as you and get the NIPT as a first approach and thankfully it came back clear, so we didn’t have to make any further difficult choices. We would also have opted for the amino if the NIPT had come back with a positive result. I’m evidence that a higher chance result can come back negative, although I felt like it definitely wouldn’t while I was waiting.

0.6 doesn’t seem overly low for PappA, so fingers crossed you get the result you want.

Glad everything worked out for you, so glad to hear this! Thank you

How did you get on with your results? Can you chase the hospital? 16 days is such a long wait, I hope it’s good news for you.
we were told 10 days for the report back 🤞🏽

Your papp-a though on the lower end is above the normal threshold (0.5). There are lots of women on mn with high hCG (and higher than yours too), with healthy babies.

Your NT is fine, though again not perfect.

is the high contrast between high hCG and low Papp-a that pushed your risk so high, individually (or combined with better results in the others), none of these would have been a problem in themselves.

I’d say your chances are very good, but I know you can’t help worrying. I got high risk 2 times and the wait for nipt wasn’t better. Just try to distract yourself as much as possible even if it’s for short time only, a book, a bath, a movie, chocolate. Good luck x

Hi OP and others, what was the outcome? Similar boat here

Hi,

the NIPT came back low risk, normal rest of the pregnancy including normal bloods at 28 weeks and normal scans at 20 weeks and 36/38 weeks (for growth but both scans normal).

I’m officially overdue now, due to be induced next week

the wait was awful and I have no advice to cope with it, I tried to stay distracted and spend time with my husband/older child.

hope it’s the outcome you want x

Thanks for responding and great news for you! Good luck 🤩

Just wanted to follow this up to say baby girl was born 6 weeks ago and does not have Down’s syndrome.
I hope you had the result you wanted ❤️