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Original poster

1 in 86 Down syndrome

28 replies

nursemum2025 · 02/10/2024 19:15

Hello,
I was just wondering if anyone else has had a similar experience.
I had a phone call from one of the antenatal screening midwives today informing me my screening test had come back as high risk for having a baby with Down syndrome (1 in 86). She explained the first screening test aren't massively reliable and suggested I got the NIPt test which I did.
She reassured me that my scan was perfectly normal, the NT measurement was well in range at 2.1 (usually >3.5 in a baby with downs).
I just can't help feeling extremely overwhelmed by this, which I know is normal so would be great to hear off anyone else who has been in a similar position.
This pregnancy is a rainbow baby for us, so very precious.

OP posts:
shrinkingbee · 02/10/2024 19:32

Hello,

Similar situation to you a few weeks ago but told 1 in 5 with a raised NT of 3.9.
I had the NIPT test the following week, and the amniocentesis which is the only diagnostic test (as opposed to screening, which the dating scan, bloods and NIPT are)
Results came in 3 days after both.

I remember being beside myself the first few days and trying to read every bit of factual information I could online. Reach out to ARC (these details should have been given to you, but Google if not) or the screening midwives/fetal medicine if you have any questions as I found them very helpful and understanding.

Sending positivity your way, if there's any specific questions I can help with please ask away.

Original poster
nursemum2025 · 02/10/2024 19:40

Hi shrinkingbee,

Thanks so much for replying, I hope everything is ok for you and sending you love.
It's just a waiting game now isn't it!

OP posts:
RickiRaccoon · 02/10/2024 19:45

I had maybe 1 in 64 chance with my 1st baby. I was incredibly stressed and couldn't stop crying for days. I talked to a couple of others who had the same, presumably partly because of their age. I got the NIPT and it came back negative. (He's almost 4 now.)

Original poster
nursemum2025 · 02/10/2024 19:48

It's our first baby also. So glad to hear everything was ok with your baby. I'm trying to be positive but my hormones are all over the place!
Thanks so much for replying with some positivity- it's so reassuring

OP posts:
BabyShaark · 02/10/2024 20:04

This was my base risk when I was pregnant with DD (due to my age).

1 in 86 is still a very low risk overall. Think of it this way: You have an 85 in 86 chance of having a child without Downs.

Pick a number between 1 and 86. Now go on one of those random number generators and generate a random number between 1 and 86. Is it the one you had picked? Very unlikely.

Also, look at it from the reverse angle. Would you put your money on a horse that has a 1 in 86 chance of winning?

I know this doesn’t take away the worry (been there, done that). But I hope it puts the risk into perspective.

Btw, I had a private blood test to check for abnormalities and all came back normal. I was on the floor crying with joy and praising God. So believe me, I’m not dismissing your worries. DD is a happy and healthy almost—5-year old now.

Hugs xx

Original poster
nursemum2025 · 02/10/2024 20:07

Thank you so much babyshaark I keep trying to look at it like that and you are so right! I'm trying to focus on the normal NT number also.
You just fill yourself with worry don't you.
So pleased to hear everything with DD was good and thank you for your reassuring words xx

OP posts:
DiscoBeat · 02/10/2024 20:12

I had a smaller risk but it was still a worry. Obviously we would have loved him/her regardless so we didn't go for the amniocentesis due to the miscarriage risk. But the odds, like yours, were massively in favour of a healthy baby and he was :-) try not to worry!

Original poster
nursemum2025 · 02/10/2024 20:22

Thank you for your reassuring words discobeat :)
Yes I wouldn't go for the amniocentesis test due to the risks! Regardless of the result I would be keeping my baby and love them all the same, my worry is more that the world can be cruel to those who are different :(
Thank you again <3

OP posts:
Puppupandaway · 02/10/2024 20:25

Sorry you're having this stress with your much longed for pregnancy.

I was given a 1 in 16 chance, and was initially devastated. As the days went on, I made peace with it and decided what would be would be. My dd did not have Down's syndrome.

My DH converted our chance into percentage and it really helped me to see that the chance was very small. Your chance is 0.01% of baby having Down's syndrome. You would take those odds any day of the week! If you were told you had a 0.01% chance of dying in an operation you wouldn't even consider it a risk!!

Good luck.

Original poster
nursemum2025 · 02/10/2024 20:28

Thank you Puppupandaway for breaking it down like that, you've made me feel better :) so happy to hear everything was ok for you!!

OP posts:
JaninaDuszejko · 02/10/2024 20:31

The miscarriage risk from an amniocentesis is between 1 in 100 to 1 in 200 so a smaller risk than your current risk of having a baby with Downs from the screening.

ItsKaos · 02/10/2024 20:36

So sorry you're going through this.

I was given a one in eight chance with DD2 after a scan. I don't think NIPT tests even existed back than. I had a CVS which confirmed that she did not have Downs.

It took a while between the scan results, the CVS and getting the results of the CVS and in that time - like @Puppupandaway - I also made my peace with it and decided whatever the result, I was keeping the baby.

But it was a very stressful time.

CatchingBabies · 02/10/2024 20:39

@nursemum2025 Did they tell you what pushed your downs chance up if the NT was normal? Was it age related or were some of the hormones out of range?

1 in 86 is the same as 1.1% chance so still very low. NIPT is far more accurate however as it looks as the cell free fetal DNA.

As a midwife the vast vast majority of women that have a high chance combined screen come back as low chance on NIPT.

Original poster
nursemum2025 · 02/10/2024 20:43

@CatchingBabies no they did not specify why just said my bloods had come back in the higher risk category. The midwife I saw today was very reassured by my scan.
I can only assume it must be raised hormones, I've been extremely sick and having every pregnancy symptom you can imagine!
Age wise I am 31 so this may affect also.
Glad to hear everything was ok for you.
Thank you for replying, very reassuring coming from a midwife :)

OP posts:
Topjoe19 · 02/10/2024 20:44

I was 1 in 49 risk. I was utterly beside myself with worry. I had the NIPT done which came back clear (v v low risk). She's 5 now. It's an awful shock when they tell you.

Puppupandaway · 02/10/2024 20:47

Sorry, yeah my maths is wrong, it's 1% not 0.01 but my reasoning still stands....it's a tiny risk!!

DadJoke · 02/10/2024 20:52

We had an amnio because there was a 1/44 risk. I would have been very sad if we'd done the test and lost the fetus - 1/200, but it was still worth it for us. We already had a special needs child.

CatchingBabies · 02/10/2024 20:57

@nursemum2025 Your age related risk at 31 is 1:800, so that’s the base figure. Then the figure is adjusted based on NT measurement (yours is normal but it is above the 95th centile and so on the higher end of normal), Papp A level (were you advised to take Aspirin, if not this is normal) and BHCG level.

The cut off to consider someone high chance is 1:150 so you’re not a million miles away from that and when you consider it as a percentage you realise it’s really still a very small chance.

I often tell women think of the combined screen as a test that tells us who needs more testing rather than a test telling us which babies are affected. As realistically that’s what it is. The false positive rate is around 7% so it’s far more likely this is a false positive than your baby is affected. If it was up to me I’d offer everyone NIPT and scrap the combined screen but the cost implications mean the NHS won’t do that despite it being a far superior test.

Try not to worry and remember the chances are all is absolutely fine.

CatchingBabies · 02/10/2024 21:00
  • 90th centile not 95th ( we really need an edit button on mumsnet for those of us with fat fingers and small phones)
Original poster
nursemum2025 · 02/10/2024 21:00

@CatchingBabies thank you so much for your comments, they are so reassuring!
The midwife I saw today said the exact same as you about the combined screening and that NIPt should be offered to all!

OP posts:
onwardsup4 · 02/10/2024 21:15

It's still a low chance if you think about it, so much more likely to have the better outcome than not. 84/85 chance is good odds . Wishing you all the best x

JustRoseRaven · 22/01/2025 07:13

@nursemum2025
Hi lovely. I'm exactly in you position. I'm also 1 of 86 chance. What was your outcome?

WildViper · 22/01/2025 11:27

Try not to worry pet I had 1 in 10 chance and she didn't have it 💜 hope all went well

JustRoseRaven · 22/01/2025 14:48

@WildViper wow, that's amazing. I get my results next week. Trying to stay positive

WildViper · 24/01/2025 07:15

JustRoseRaven · 22/01/2025 14:48

@WildViper wow, that's amazing. I get my results next week. Trying to stay positive

I will keep you in my thoughts honey but stay postive as scary as it is , keep us updated 💜