High Risk of Downs - worried mum!

[Kj2804]

I had my dating scan 2 weeks ago (where, as it turned out) we were at 13 weeks and 5 days.

During the scan, the sonographer told us everything looked great, with the NT at 2.0mm.

Following this, I got my bloods results back and while HCG was normal, PAPP-A was low at 0.349. A high risk result was triggered for Downs of 1 in 130 (very low risk for Patau’s and Edward’s) but the midwife we spoke to said that low PAPP A often triggers this result.

We immediately had the NIPT and have been agonisingly waiting for the results. Since then I’ve been going mad with worry about the unknown and learning everything about everything.

Our scan picture is quite blurred as baby was moving around a lot so even that’s tough to make sense of with the nasal bone/nose appearing like a white smudge.

Has anyone had a similar experience?

Thanks!

Hello! I haven't experienced this but wanted to reply as this must be a worrying time for you.

1 in 130 as a percentage is just 0.77%! With those odds it's highly likely baby won't have DS. It's also good to have that insight from the Midwife who probably sees this time and time again!

When are you expecting your NIPT results back? ❤️ Hopefully soon x

Hi, thanks for your response!

It’s just such a tough situation, especially as a first time mum who has come to this a little later in life.

You’re right - the odds are low, but it’s still so tricky not to fixate on the 0.77%.

I would be due my results anytime from today - next Monday so it’s a waiting game 💔

When k had my nipt it was inconclusive so they took another 2 days to run in again- just warning you that this can happen!!

1/130 is still very low risk

1 in 130 might technically be high risk, but try not to worry, there is a 129 in 130 chance your baby doesn’t have ds. I had a 1 in 36 chance of it, and baby was born healthy. I convinced myself I would be the ‘1’ and found the wait very difficult.

Gosh, I hope not. I’m not sure I could do this all over again.

I just called them - apparently they results are due to come in tomorrow.

That’s exactly it, convincing yourself that you’re the 1 in 130. It’s such a lot to carry around with me for so many days.

I’m trying my best to stay positive - results tomorrow apparently!

Stay positive! I had to have 3 fetal cardiac scans after the nipt came back low risk as drs were convinced there was a problem with ds, but all fine. Hope you get good news tomorrow.

Hello, I went through the same thing, I had low papp-a and like you being anxious about my pregnancy I fixated on the worst case scenario. It drove me crazy!

In the end I had nothing to worry about, my baby developed totally fine and was born at 41+6 at a very healthy 7lb11. I took low dose aspirin every day of the rest of my pregnancy and had additional growth scans but everything was OK. It seems low Papp-a is actually quite common but I really wish midwives and doctors weren't so flippant about it because it can be a real worry!

Obv can't guarantee everything is A-OK but it's positive that the NT is within the normal range. Are you on aspirin?

And as others say 1/130 is very low risk. Good luck x

Glad the results are coming in tomorrow 💙 I understand how hard waiting is.

I still haven't had my combined screening results and I'm over waiting too 🙈 I want these before I get a NIPT test (as I'm 38). It's been 10 days.🙃

Try to flip it, it’s 99.23% everything is fine. If I was given such great odds, I would put a significant amount of money on the bet! It’s almost a sure thing.

I too have been in this position, had what I felt were low odds. I think 1:350 with my second. My first was 1:10000.

It’s important to remember that all this is based on a probability calculation. If you are in your mid 30s vs 20s your result will be higher. Low papa will increase the result, slightly higher NT but not at a worrying level will affect the odds etc etc.

Hope all is okay x

Hi OP. I had a 1:13 of my first born having DS. NT measurement was very high (thick fold measurement). I had a CVS at 12 weeks after finding out the measurement during our scan. Somethings these things just happen and resolve themselves.

My DS is perfectly happy and healthy. I've just sent him off to his first day of year 8 today!

Good luck! I know how stressful this time can be ❤️

Oh wow, that’s a lot for you to go through. I’m so sorry to hear that.

Still, look at your baby defying the odds: a born winner! ❤️

Thanks for this: what a reassuring and helpful response. You’re a star.

I am on aspirin now after PAPP A came in so low. I’ve also joined a private Facebook group for those with lol PAPP A which I’m finding very helpful and interesting to read.

Fingers crossed that’s the extent of it ❤️

I understand that this is a ‘people in glass houses’ moment but try not to worry! The midwife told me that this is definitely a ‘no news is good news’ situation and that if there are concerning results then they call you within 3 working days ❤️

"Fingers crossed that’s the extent of it ❤️"*
*
Absolutely 🤞it more than likely will be. Hope all your results come back ok tomorrow OP and enjoy the extra scans 😊

FYI I was 37 when diagnosed with low Papp-a.

I know it's probably fine but I really want the results now 😭 if it doesn't arrive after two weeks I'll try to call someone... Maybe the hospital? 🤔

Did you hear back? X

Yeh definitely call them - having your mind put at rest is so important.

I heard back, everything came back low risk. So many tears of joy were shed. There’s no feeling quite like that one ❤️ x

@Kj2804 So pleased for you!! 🥰🥰🥰

I will call tomorrow. Do you think the community midwives would have access to this info? 🤔 I might try them first!

Hi I am currently going through exactly the same as this.
Found out on the 4th Jan my screening test has come back 1 in 129 for downs. NT 1.5mm, bHCG 1.42 MoM and Pappa A 0.21 MoM.
Had NIPT taken on Monday. Due Results 17th.
what was the outcome of your NIPT?
I am only 27 and I am very worried.

My friends results came back 1 in 26 chance of downs . The midwife told her tho they often come back as high .she had further tests and baby dosent have down syndrome

I am 13 weeks and haven't even been offered any screening

I had nipt last week as mine came back 1 in 123 chance and I'm 43 but got my results back yesterday and I'm low risk for everything so very relieved it was my age that made me high risk .

Hi just thought I’d put an update on. I had my NIPT results back today and they came back low risk. So relieved!!