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High risk for down syndrome

15 replies

Mamatobe2025 · 19/12/2024 17:38

Hello!

I am currently 14 weeks pregnant. The fetal medicine midwife phoned me and told me my baby is at increased risk of down syndrome.
The interpretation states that the chance is 1:114.

I am terribly worried. 😟

Has anyone experienced this?

thanks

OP posts:
TizerorFizz · 19/12/2024 17:44

Yes. Because I was 39. It increases with age. Everything was ok here. If you need to know more, there’s only one answer - a further test. Which I had.

Mamatobe2025 · 19/12/2024 17:52

I was offered to do NIPT. Btw, I am 36 years old.

I have read the combined test is not to confirm DS diagnosis but it makes me very anxious.

All the best!

OP posts:
Mamatobe2025 · 19/12/2024 17:53

TizerorFizz · 19/12/2024 17:44

Yes. Because I was 39. It increases with age. Everything was ok here. If you need to know more, there’s only one answer - a further test. Which I had.

I was offered to do NIPT. Btw, I am 36 years old.
I have read the combined test is not to confirm DS diagnosis but it makes me very anxious.

All the best!

How long should you wait for the NIPT results?

OP posts:
GreenGrass28 · 19/12/2024 18:17

I had odds on1:110 and was worried sick. I had the NIPT and it came back low but risk 1:10,000 and it was a massive relief. NIPT results took about 10 days but that did fall over bank holidays which delayed it. Sadly given that Christmas is next week, you might also encounter a delay. I'd definitely go for the NIPT though.

I know it's a huge worry, but you still have more than a 99% chance that all is ok. I know it's hard to rationalise it like that, I struggled too, but there is a much higher chance that everything will be ok.

DappledThings · 19/12/2024 18:21

Those are about the odds I had. Which is still a 99.12% chance your baby doesn't have Down's.

The NIPT doesn't give an absolute definitive yes or no but it does give you a result that is at the top or bottom of the range instead of the middling one you have now. So something like 1:5 or 1:10,000.

Mine took less than a week to come back as 1:10,000

Mamatobe2025 · 19/12/2024 18:32

GreenGrass28 · 19/12/2024 18:17

I had odds on1:110 and was worried sick. I had the NIPT and it came back low but risk 1:10,000 and it was a massive relief. NIPT results took about 10 days but that did fall over bank holidays which delayed it. Sadly given that Christmas is next week, you might also encounter a delay. I'd definitely go for the NIPT though.

I know it's a huge worry, but you still have more than a 99% chance that all is ok. I know it's hard to rationalise it like that, I struggled too, but there is a much higher chance that everything will be ok.

Thanks for the words of encouragement. That is what I needed the most right now.

My beta hcg is 0.80 MoM and Papp-a result is 0.60 MoM. I have searched the normal results online and mine is within the normal range.

I know stress is not good for my baby but I can’t help to look for answers 😓

Thanks again!

OP posts:
TizerorFizz · 19/12/2024 18:41

I actually had an amnio but I’d do the NIPT privately. But asap.

bruffin · 19/12/2024 18:43

I was 1 in 60 at 34 i had amnio and dd is now 27 and doesnt have DS

Pinkywoo · 19/12/2024 18:54

I had 1 in 4 (I was 40 at the time) and had an amino, as it's the only way to get a definite result. It came back as negative three days later, and DS is now a very healthy two year old.

bishbashboshjobsagoodun · 19/12/2024 19:08

I had a risk of 1:14 for Down syndrome for one of my twins, plus other markers (bilateral clubfoot, increased NT at 6.1mm and short long-bones). They thought he had all sorts wrong with him. Had amniocentesis at 30 weeks to get a definitive result and all negative. They're 8 next week and perfectly healthy (clubfoot fully corrected).

Whatiswrongwithmeffs86 · 19/12/2024 21:20

I am feeling exactly the same as you. I'm 38, and I had my 12-week scan on Tuesday and had a raised NT of 4.3mm. I haven't had the results of my blood test back yet, but I am booked in tomorrow to have the CVS. I opted out of the NIPT as I wanted a definitive yes/no answer, and I couldn't bear the anxiety of waiting. In my last pregnancy, I was 35 and had a normal NT but raised blood results, which gave me odds of 1/30. Again, I declined the NIPT and had the amino, and thankfully, I got the all clear. He was born perfect in January 2022 and is almost 3.

I think I am more anxious this time, though, due to being older and having a raised NT.

I wish you all the best OP.

Lulumamabear · 30/12/2024 23:50

Mamatobe2025 · 19/12/2024 17:38

Hello!

I am currently 14 weeks pregnant. The fetal medicine midwife phoned me and told me my baby is at increased risk of down syndrome.
The interpretation states that the chance is 1:114.

I am terribly worried. 😟

Has anyone experienced this?

thanks

So sorry you're having a stressful time. Your odds aren't very high, so there is a good chance that your baby has no chromosomal difference. The group www.facebook.com/share/g/15c54aKdPG/?mibextid=wwXIfr was very helpful for me when I had a high chance with my second pregnancy, hopefully you might find it helpful too. Sending you big hugs, hope you're taking care of yourself xxx

RickiRaccoon · 30/12/2024 23:55

I had about 1 in 64 chance for DS with my 1st at age 36. I got the NIPT and it came back negative and it's very accurate so I trusted it. He's a healthy 4yo. It stressed me out so much that with the second pregnancy I skipped screening and just did the NIPT.

onthenightfeed · 31/12/2024 12:40

This feed has been just what I needed as just had the same call this morning at 14 weeks with a 1:100 chance (which sounds so small but you just can't help but worry can you). Will have the NIPT on Thursday but with early pregnancy bleeding and a couple of inconclusive early pregnancy scans before finally having the relief of seeing a heartbeat.. this pregnancy is sooo much more stressful that my first DS 😰

Lulumamabear · 31/12/2024 14:28

onthenightfeed · 31/12/2024 12:40

This feed has been just what I needed as just had the same call this morning at 14 weeks with a 1:100 chance (which sounds so small but you just can't help but worry can you). Will have the NIPT on Thursday but with early pregnancy bleeding and a couple of inconclusive early pregnancy scans before finally having the relief of seeing a heartbeat.. this pregnancy is sooo much more stressful that my first DS 😰

So sorry you're having a stressful time, I can relate - first pregnancy like textbook, second was like yours, a few scares which really wobbled me: hoping things settle down for you soon xx

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