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Original poster

High risk for Down’s, Edwards’ and Patau Syndromes :(

41 replies

LFS1991 · 29/12/2022 13:04

Hi :(

Background: 2nd IVF pregnancy. 31 years old. Egg collection in 2019 when I was 28.

We had the call yesterday that my screening results showed high risk for all three main syndromes.

Down’s 1:86
Edward’s and Patau 1:35

Luckily we had our NIPT test this morning. They didn’t tell us the papp-a number or the hcg. They said that they don’t focus too much on it. I asked loads of questions such as “if you don’t focus on those numbers then what has put me in high risk for all 3?”

My scan last week was all normal, dates and size of baby were perfect, NT (fluid at back of neck) was way within normal range.

The wait for results next week is killing me already.

Has anyone had similar experiences and all has turned out ok?

Did you rely on the NIPT or did you go for Amnio?

One heartbroken Mami here just looking for someone to speak to :(

x

OP posts:
GoT1904 · 29/12/2022 13:43

I don't have any advice I'm afraid, other than my cousin bad very very high odds of both, she was referred to a different specialist hospital for scans etc and everyone was on tenterhooks. LB was born and had no syndrome whatsoever. Even in a case of 1:35, you still have a 34:35 chance that all is well.

Sorry I couldn't be more help and I hope someone more knowledgeable comes along soon xx

AnnieApple123 · 29/12/2022 13:50

Sorry to hear you’re going through this. The overwhelming odds are that all is well. Those ratios are still very low. Obviously it’s going to be a huge worry though. NIPT results are highly accurate and will hopefully put your mind at rest. They can give ratios as low as 1:10,000.

AnuSTart · 29/12/2022 17:35

I had 1:4! My son was fine.
My friend had 1:20000 and her son has down's.
Please try not to worry too much. I do know it's hard.

theremustonlybeone · 29/12/2022 17:43

I was 1:4 for DS and 1; 9 for edwards. My scan was absolutely fine and he ended up fine too

Original poster
LFS1991 · 29/12/2022 18:13

GoT1904 · 29/12/2022 13:43

I don't have any advice I'm afraid, other than my cousin bad very very high odds of both, she was referred to a different specialist hospital for scans etc and everyone was on tenterhooks. LB was born and had no syndrome whatsoever. Even in a case of 1:35, you still have a 34:35 chance that all is well.

Sorry I couldn't be more help and I hope someone more knowledgeable comes along soon xx

Thanks for your message. Hearing things like does help, but I don't know if I'm fooling myself surrounding myself with positive stories and outcomes.
I have edited my original post with breakdown of results.
Thanks again Smile x

OP posts:
Original poster
LFS1991 · 29/12/2022 18:15

AnnieApple123 · 29/12/2022 13:50

Sorry to hear you’re going through this. The overwhelming odds are that all is well. Those ratios are still very low. Obviously it’s going to be a huge worry though. NIPT results are highly accurate and will hopefully put your mind at rest. They can give ratios as low as 1:10,000.

Thank for your message x

When you flip them to the chances of bot having them,'or even flip them to %, it does give a different perspective on it for sure.

I have edited my original post with breakdown of results.

X

OP posts:
Original poster
LFS1991 · 29/12/2022 18:16

AnuSTart · 29/12/2022 17:35

I had 1:4! My son was fine.
My friend had 1:20000 and her son has down's.
Please try not to worry too much. I do know it's hard.

Thanks for your message.

Do you mind me asking what further testing, if any, you had due to the 1:4 chance?

I have edited my original post with breakdown of results.

X

OP posts:
Original poster
LFS1991 · 29/12/2022 18:18

theremustonlybeone · 29/12/2022 17:43

I was 1:4 for DS and 1; 9 for edwards. My scan was absolutely fine and he ended up fine too

Thanks for your message x

If you're happy to share, did you have any further testin due to those initial chances of 1:4 and 1:9? NIPT or amnio?

Ie, my scan looked absolutely perfect, all dates spot on an ld NT 1.7mm so really good.

I have edited my original post with breakdown of results.

X

OP posts:
Original poster
LFS1991 · 29/12/2022 18:22

LFS1991 · 29/12/2022 13:04

Hi :(

Background: 2nd IVF pregnancy. 31 years old. Egg collection in 2019 when I was 28.

We had the call yesterday that my screening results showed high risk for all three main syndromes.

Down’s 1:86
Edward’s and Patau 1:35

Luckily we had our NIPT test this morning. They didn’t tell us the papp-a number or the hcg. They said that they don’t focus too much on it. I asked loads of questions such as “if you don’t focus on those numbers then what has put me in high risk for all 3?”

My scan last week was all normal, dates and size of baby were perfect, NT (fluid at back of neck) was way within normal range.

The wait for results next week is killing me already.

Has anyone had similar experiences and all has turned out ok?

Did you rely on the NIPT or did you go for Amnio?

One heartbroken Mami here just looking for someone to speak to :(

x

Edit to original post:

Breakdown of combined screening results...

NT: 1.7mm (normal)
papp-a: 0.13 (extremely low)
hcg: 0.51 (also very low)

:( x

OP posts:
MissHavershamReturns · 29/12/2022 18:25

Hi op, no personal experience, but just wanted to send sympathy vibes as my db went through something similar but with a different condition.

Have you considered calling the charity ARC? They are expert in antenatal testing and results and they are non judgmental and will listen and support whatever the outcome and whatever family choices Flowers

MissHavershamReturns · 29/12/2022 18:26

Looks like they would hopefully be open tomorrow www.arc-uk.org

WhatHaveIDone21 · 29/12/2022 18:26

My risk with DD1 was 1:100. I was 28 at the time. I had an amino (this was 12 years ago so before NIPT) and all was fine. Had NIPT with DD2 and was low risk and all fine when she was born. I remember the waiting well - it feels like it lasts forever. Sending you lots of positive thoughts.

Schoolchoicesucks · 29/12/2022 18:32

Agree with PP -"high risk" doesn't really mean all that much as it's all relative and when you translate into %s, it's much more likely than not that your dc doesn't have any of these trisomies.

You'll be offered further definitive tests. How do you feel about these? Would a definitive result impact on continuing the pregnancy? It's a horrible situation, the waiting and not knowing (I was there, DC is fine). I hope you have support around you, if not IRL then do continue posting here and get in contact with Arc www.arc-uk.org/

Thinking of you x

Original poster
LFS1991 · 29/12/2022 18:40

WhatHaveIDone21 · 29/12/2022 18:26

My risk with DD1 was 1:100. I was 28 at the time. I had an amino (this was 12 years ago so before NIPT) and all was fine. Had NIPT with DD2 and was low risk and all fine when she was born. I remember the waiting well - it feels like it lasts forever. Sending you lots of positive thoughts.

Thanks for your reply. You've hit the nail on its head - the waiting is betond ond today is only day one.
Did you have "high chance" with your second as well or were you advised to just have the NIPT because of your first one?

X

OP posts:
Original poster
LFS1991 · 29/12/2022 18:42

MissHavershamReturns · 29/12/2022 18:25

Hi op, no personal experience, but just wanted to send sympathy vibes as my db went through something similar but with a different condition.

Have you considered calling the charity ARC? They are expert in antenatal testing and results and they are non judgmental and will listen and support whatever the outcome and whatever family choices Flowers

Thanks for this. I've seen quite a few people mention ARC on difference posts so I will definitely try to contact them tomorrow. Just speaking helps, not that it changes anything.

Thank you x

OP posts:
missmapp · 29/12/2022 18:44

We had a 1 in 10 chance for ds1 and a 1 in 4 chance for ds2. Neither had downs , Patel's or Edwards. Both had high nuchal folds
Ds has a different genetic disorder but is now 15 and healthy. It is a very hard time between test results. Talk to people and just take it day by day
Good luck

Original poster
LFS1991 · 29/12/2022 18:46

Schoolchoicesucks · 29/12/2022 18:32

Agree with PP -"high risk" doesn't really mean all that much as it's all relative and when you translate into %s, it's much more likely than not that your dc doesn't have any of these trisomies.

You'll be offered further definitive tests. How do you feel about these? Would a definitive result impact on continuing the pregnancy? It's a horrible situation, the waiting and not knowing (I was there, DC is fine). I hope you have support around you, if not IRL then do continue posting here and get in contact with Arc www.arc-uk.org/

Thinking of you x

Hi.
Yes, we have talked about having the amniocentesis if the NIPT comes back high also. We will be having it. Yes, we have discussed the decision of continuing or ending the pregnancy based on the amnio result.

Before being in this situation myself, I always thought to myself "there's nothing to think about, I would obviously carry on with the pregnancy". I admit that I had been extremely judgmental of others because the wors hadn't happened to me, but now WE are the ones in the midst of it all, and everything changes :(

This it easiest the hardest chapter of my life yet x

OP posts:
Original poster
LFS1991 · 29/12/2022 18:48

missmapp · 29/12/2022 18:44

We had a 1 in 10 chance for ds1 and a 1 in 4 chance for ds2. Neither had downs , Patel's or Edwards. Both had high nuchal folds
Ds has a different genetic disorder but is now 15 and healthy. It is a very hard time between test results. Talk to people and just take it day by day
Good luck

Thanks for your reply.

I'm praying with everything I have that our outcome will be similar to yours. So glad everything was ok for you and really glad your son is doing well :) xx

OP posts:
WhatHaveIDone21 · 29/12/2022 19:06

@LFS1991 I actually can't remember what my initial risk with DD2 was. NIPT still wasn't a common thing when I was pregnant with DD2 so I paid privately to have the test done as soon as I was able to as I was very nervous. I did have the screening with the NHS but can't remember what it was sorry.

I wish there was something that could make you feel better but honestly just do whatever you need to do to get through the waiting. It took about 5 days to get the results from the amnio and I think I spent most of that time in bed! I didn't really want to talk to anybody or do anything. I hope it passes quickly for you.

Missingmydarling · 29/12/2022 19:09

I'm so sorry to read your post. How stressful. I had the same papp a as you but worse hcg and so worse odds overall and baby did have Edwards but my odds were 1 in 4. We went for the nipt like you. Hopefully that comes back OK. Some women just have low papp a and it doesn't pose a problem. Has someone talked to you about taking aspirin with your evening meal? Good luck with the nipt. The wait will be agonising I'm sure. I hope you get answers quickly. If the results from that aren't good, it isn't a diagnostic so you may be asked to go for invasive testing if you want to end the pregnancy. If the outcome of the nipt is good, I'd personally trust that. Sending lots of love x

girlss4 · 29/12/2022 19:23

My DD1 was high risk for down syndrome due to an anomalies. This was before the times of the NT and the only thing they could offer was an amniocentesis. I declined this and chose to continue. She was born perfectly healthy.

Fingers crossed for you.

theremustonlybeone · 29/12/2022 19:34

LFS1991 I had CVS procedure. Found out he was a boy too

coffeetofunction · 29/12/2022 19:42

I have no real advice or first hand experience but this blog is beautifully wrote and may help give you an insight into how someone else has managed their experience

www.facebook.com/profile.php?id=100085542055044

dizzydizzydizzy · 29/12/2022 20:03

A gambler would be very happy with those odds. The likelihood is that everything will be fine.

MarmiteCoriander · 29/12/2022 20:07

Hi OP, I'm sorry you are going through this stress. I empathise with you because I have been there. ❤

I hope you don't mind me going through my experience when things didn't work out? After 4 yrs TTC I finally got pregnant at 38. A scan at 7 weeks showed a heart beat and all normal. I had the NIPT at almost 12weeks which came back as showing patau syndrome (trisomy 13). I had a more detailed scan done and it was very obvious that things were wrong. The NT was 6.5mm, there was a shadow in the brain, a hernia on the umbilical cord and several other things visible on the scan. We were offered CVS and/or amnio but after discussion with the consultant and the obvious issues, I chose TFMR. The autopsy confirmed T13 a also.

The fact that the NT on your scan was normal and the scan looked normal is excellent. I'm no expert, but I would think that IF there was a genetic issue- the NT would be much higher and things would be obvious on the scan.

Happy to answer any questions you have OP xxx