1 in 30 chance of down syndrome

2020mission · 31/07/2021 10:47

@Worried1991 try not to worry as most of the time those with high risks from the NT/blood screening come back negative after the NIPT test. It's a few factors they use to calculate that ratio so if your NT measurement was normal it might be the bloods, or other risk factors that have contributed e.g. higher maternal age, smoking, IVF. Hopefully you don't have long to wait for your next results to come back. I've seen so many people on here with high risks post and say it was all fine in the end. Try to keep positive for now.

Helpdesk3 · 31/07/2021 12:29

Yes. Just take the NIPT test and I think you should get a low probability. The NHS bloods are overly skew towards showing higher risk.

Original poster

Worried1991 · 31/07/2021 14:12

I think I had a fairly high hcg level 5.00mom and lower papp-a

OP posts:

Em39ma · 31/07/2021 19:03

I had the same a few weeks ago. My chance was 1-22. Had the NIPT done and came back as very low risk.
I’m 42 so older mum and bmi on the higher side too. They think mine is down to expecting twins but one didn’t develop, they think that’s the where the high result came from.

numberthirtytwoWindsorGardens · 31/07/2021 19:09

I had the same - normal nuchal, but low papp-a and high HCG, and an initial estimate of 1/9 chance. My NIPT came back 1/50,000. Keep the faith 😊

Original poster

Worried1991 · 01/08/2021 20:33

How long did you guys wait for the NIPT to come back

OP posts:

User0ne · 01/08/2021 20:41

On the plus side it's a 29/30 chance they don't have downs. If they do no one can tell you how severe it will/would be

Try to think positive, fingers crossed

Em39ma · 01/08/2021 22:09

I wait 2 weeks for my results.

Kona84 · 02/08/2021 08:29

Mine wasn’t as high but was borderline for my age of 1in 160, my age risk is 1in150 so although I was concerned I knew it wouldn’t change our decision of whether to keep or not.
I spoke to my midwife and she said there is a 1 in 160 chance that they have Down syndrome but there’s a 159in 160 chance they don’t.
I know you are dealing with different numbers but you have a 29in 30 chance that they don’t have Down’s syndrome.
Wishing you the best with your further tests.

Alexa02 · 08/06/2022 15:29

Hi ladies,

I know this thread was last updated over 6 months ago but I’d love to chat with any of you ladies as I now find myself in a very similar situation.

I went for my 12 week scan on Monday and received a high (and unexpected) NT results of 5.2mm that combined with my blood test results has given us a 1:30 chance of having a baby with DS. I’m still trying to process all this information and already know the wait between appointments is going to kill me. I’ve got an advanced screening next week and I think a CVS will be our best option of knowing for certain. Your positive stories have definitely helped me, I’d love to chat to anyone who’s going or gone through a similar situation and how you dealt with it best. Thank you x

LuluBlakey1 · 08/06/2022 15:31

That number is low when you think of it the other way- it is a 97 in 100 chance of not having Downs Syndrome.

Alexa02 · 08/06/2022 15:53

Thank you. That is definitely a more positive way to look at the odds

1990s · 08/06/2022 16:02

I know you asked for positive stories but from my own experience I think it’s important to be prepared.

At my 12 week scan I was told everything looked fine and the blood test was mentioned almost as an afterthought.

The results were 1:27 for DS. Had the CVS (this is nothing to worry about in itself as a test, very straightforward!) and again the feral medicine consultant said he thought it was unlikely there was anything wrong from the scan.

The baby did have DS and I took the decision to TFMR.

Im not saying this to scare you, but as all the way along people were telling me it was likely not DS, everything looked fine, screening is just screening, odds are low it is, and I think this made me unprepared when it was DS.

Thesmelloffreshlycutgrass · 08/06/2022 16:11

I was told DD had a 1 in 17 chance of having DS from the blood tests.
I had the NIPT and the results came back as less than 1 in 50,000.
She was born perfectly healthy and is a lovely 2 YO now.

The wait for the results is awful, I really detached from the pregnancy and was convinced she had DS.

Be kind to yourself x

Belephant · 08/06/2022 16:31

LuluBlakey1 · 08/06/2022 15:31

That number is low when you think of it the other way- it is a 97 in 100 chance of not having Downs Syndrome.

I had a 1 in 30-something risk come back and this is what calmed me down massively.

A week later my NIPT result came back as 1 in 10,000, of the top of my head.

On the day we were told about the 1 in 30 risk, DH and I were very upset about it. Then we thought about it in the 97 in 100 way instead and felt a lot better. We also knew for certain that we didn't want to terminate, so this helped as there wasn't any "decision" looming in the near future if that makes sense? No matter what the end result for us personally was going to be the same. I'm not sure what your feelings on that are but I imagine people would think about this in a thousand different ways, it's all very personal.

I can't deny it was a rough week, though. Be kind to yourself, treat yourself with some nice food or something you like, and just try to take your mind off it.

All the best x

Alexa02 · 09/06/2022 07:01

Hi Belephant. Thank you so much for your encouraging words. Your positive story inspired me so I went for a private NIPT test last night and I’m just hoping my results come back similar to yours. Did you have to wait long for yours? The thought of the invasive procedure was playing on my mind so I thought we’d at least see if these results came back high or low also.

You are right, the waiting is the worst part. My tummy is still in a knot this morning but I’ve just got to remember hope is not lost, thank you again x

Alexa02 · 09/06/2022 07:03

This is an amazing story, I can’t even imagine how you felt getting that news after the NIPT. It’s crazy the difference in ratio between the tests.

I decided to go for a NIPT last night after reading your positive stories. I pray I get a similar outcome to you x

Belephant · 09/06/2022 09:41

@Alexa02 no problem at all, I remember how stressful it was so just glad I could help in some small way.

So from memory, I had the blood taken and sent off on a Thursday and I think the results came back the next Wednesday.

I was too scared to have the amniocentesis test so the NIPT was a good alternative for me, and it's very accurate. A midwife told me that in my trust they're planning to replace amniocentesis with NIPTs as the standard "next step" after getting a high risk on the first test. Don't take that as gospel though as I'm sure every trust is different and there's probably different medical opinions.

I'm keeping my fingers crossed that yours come back very quickly! ❤️

Alexa02 · 09/06/2022 10:01

Absolutely, it is such an anxious wait, it’s hard to think of anything else but trying to focus on work as much as possible.

Ah thats a pretty quick turnaround isn’t it, hopefully mine will be a similar story, they said by about Friday next week but I’m hoping it’s earlier to be honest. I felt the same about the amniocentesis. That’s reassuring to know they’re bringing in the NIPT as the next step, I think it makes sense especially as there’s no risk to the baby and could eliminate the need for a diagnostic test.

Was your initial 1:30 result ever explained another way or was it just ‘one of those things’ that just was the way it was?

thanks again ❤️

Belephant · 09/06/2022 10:38

@Alexa02 it was just one of those things for me, I think. Although, I didn't actually have the 12 week screening as baby wouldn't get in the right position for the measurements! So they sent me for the quad test at 16 weeks, so it's a similar but different test to the combined 12 week one which only measures two things in the blood combined with the measurement from the scan.

For me, the midwives said that what raised my risk factor result was that I had a high HCG result, along with a slightly raised result for one of the other 3 things that the test measures, but I don't remember which.

After the NIPT came back as low risk, the high HCG wasn't brought up as a problem and I have a happy healthy six month old now 😊

Sparks654 · 26/12/2023 09:52

Hi there - I am concerned too about the 1-30 chance at my age, and about termination if I that is what we decide. How did things play out for you in the end?

Sparks654 · 26/12/2023 09:56

Thesmelloffreshlycutgrass · 08/06/2022 16:11

I was told DD had a 1 in 17 chance of having DS from the blood tests.
I had the NIPT and the results came back as less than 1 in 50,000.
She was born perfectly healthy and is a lovely 2 YO now.

The wait for the results is awful, I really detached from the pregnancy and was convinced she had DS.

Be kind to yourself x

That's a wonderful story. So your test at 12 weeks showed DS and then you decided to continue anyway and she was ok?

Sparks654 · 26/12/2023 09:56

Worried1991 · 31/07/2021 10:20

Went for my 12 week scan everything looked normal, normal nuchal fold measurement. However was called a few days later and my risk for baby having down syndrome is 1 in 30. However the confusing thing is the midwife couldn't say why I came out so high for the risk. Went in and did the SAFE test. Waiting results now. Has anyone had similar? Panicking so much

What happenes in the end?

Alexa02 · 26/12/2023 13:01

Hi @Sparks654 sorry to hear you’re currently going through this. In the end our NIPT results came back less than 1 in 50,000 and we’ve just celebrated our little boys 1st birthday. We were one of the lucky ones but if you read these threads on here you’ll see how many hopeful stories there are. Are you planning on doing anymore testing?