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Old Jan 4th, 2018, 10:20 AM   1
Sarah369
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NT came back high risk for Downs Syndrome


We got 1:138 risk of DS. The cut off at our hospital is 1:150 so Iím not far off being considered low risk. Iíve decline cvs or amnio as donít want to even have 1% risk of miscarriage on what could well be a perfectly healthy baby.

Iím looking at having the harmony /nipt test as itís non invasive but itís £399 as only available privately. Donít think we can spend that.

Anyone got any stories they can share. Iím aware itís only screening so may well be all fine. But a bit of reassurance would be nice.

Or does anyone know of any specific support groups. Thanks



 
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Old Jan 4th, 2018, 11:12 AM   2
Allie84
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Hi! Do you have your specific first tri screen results? Like what was your Papp-A, your HCG, the NT measurement and also what is your age?

I ask because I just had this happen to me. My screening result came back 1/228 which is considered 'positive' or 'high risk' here in the US. My insurance covered the NIPTS testing which I went to get done right away. Even if I had to pay out of pocket I probably would have....the peace of mind I got from that was UNREAL!

I had to wait about a week but my NIPTs test came back all normal and I found out I was having a girl.

When I finally looked at my specifics, I realized my age (33) and my PAPP-A (.27, really low) were what skewed my results. I had a really low NT measurement and normal HCG. Seeing the raw data and seeing how it contributed to my ratio really helped me put it in perspective.

However, I do now have to have growth scans every 4 weeks starting at 24 weeks because of my low PAPP-A. I had a normal anatomy scan yesterday but the PAPP-A can indicate a poor placenta during 3rd tri.

Hope that was a bit helpful?!



 
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Old Jan 4th, 2018, 11:46 AM   3
Sarah369
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Quote:
Originally Posted by Allie84 View Post
Hi! Do you have your specific first tri screen results? Like what was your Papp-A, your HCG, the NT measurement and also what is your age?

I ask because I just had this happen to me. My screening result came back 1/228 which is considered 'positive' or 'high risk' here in the US. My insurance covered the NIPTS testing which I went to get done right away. Even if I had to pay out of pocket I probably would have....the peace of mind I got from that was UNREAL!

I had to wait about a week but my NIPTs test came back all normal and I found out I was having a girl.

When I finally looked at my specifics, I realized my age (33) and my PAPP-A (.27, really low) were what skewed my results. I had a really low NT measurement and normal HCG. Seeing the raw data and seeing how it contributed to my ratio really helped me put it in perspective.

However, I do now have to have growth scans every 4 weeks starting at 24 weeks because of my low PAPP-A. I had a normal anatomy scan yesterday but the PAPP-A can indicate a poor placenta during 3rd tri.

Hope that was a bit helpful?!
I donít have the breakdown of results here. Iím 31. My risk factor based on age was 1:764.
I know my NT measurement was 1.1 which is lowish. Not sure of the others



 
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Old Jan 4th, 2018, 11:54 AM   4
Allie84
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Quote:
Originally Posted by Sarah369 View Post
Quote:
Originally Posted by Allie84 View Post
Hi! Do you have your specific first tri screen results? Like what was your Papp-A, your HCG, the NT measurement and also what is your age?

I ask because I just had this happen to me. My screening result came back 1/228 which is considered 'positive' or 'high risk' here in the US. My insurance covered the NIPTS testing which I went to get done right away. Even if I had to pay out of pocket I probably would have....the peace of mind I got from that was UNREAL!

I had to wait about a week but my NIPTs test came back all normal and I found out I was having a girl.

When I finally looked at my specifics, I realized my age (33) and my PAPP-A (.27, really low) were what skewed my results. I had a really low NT measurement and normal HCG. Seeing the raw data and seeing how it contributed to my ratio really helped me put it in perspective.

However, I do now have to have growth scans every 4 weeks starting at 24 weeks because of my low PAPP-A. I had a normal anatomy scan yesterday but the PAPP-A can indicate a poor placenta during 3rd tri.

Hope that was a bit helpful?!
I donít have the breakdown of results here. Iím 31. My risk factor based on age was 1:764.
I know my NT measurement was 1.1 which is lowish. Not sure of the others
That's a good NT measurement and your age wouldn't throw it off too much, so my guess is one of your hormones was off. I wouldn't worry too much! I'm just a huge worrier so I HAD to know.



 
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Old Jan 4th, 2018, 12:29 PM   5
krissie328
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Not quite the same but my risk for an open neural tube wad 1:24 with my son. They never did get a good scan on his spine either. But in the end he was born with no problems.



 
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Old Jan 4th, 2018, 14:23 PM   6
Unexpected212
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I'd honestly go for the harmony for the peace of mind as it's completely non invasive

I know it's a lot of money but for me it was worth the peace of mind, otherwise i'd spend my whole pregnancy worrying 'what if'

And if it comes back positive for DS even if that doesn't change the outcome of your pregnancy it's always good to be prepared I think



 
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Old Jan 4th, 2018, 14:24 PM   7
Unexpected212
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Also for a nice story one of my relatives and his girlfriend got a 1/5 risk for DS from their nuchal scan and she was only 21 at the time

They opted for the amnio and baby was perfectly fine



 
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Old Jan 5th, 2018, 07:26 AM   8
Mummy of Ange
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I had this with my eldest who is now 5.

I refused the first trimester screening as we had previously lost twins at 24 weeks and I just didn't want any worry etc.

I had my routine 20 week scan and they said her neck measurement was 7.4mm and the cut off was 6.0mm at 20 weeks. I was immediately rushed into a side room with a consultant and told to expect the worst such as Edwards Syndrome.

They offered me the Amnio, but like you I just didn't want to risk miscarriage after all we had been through.

It ruined the remainder of my pregnancy. I was constantly on Google etc stressing out. She was born 39+6 and perfectly healthy in everyway.

My second pregnancy I got 1:180 and I was 35 and yet again refused further testing, she is now 3 and totally fine.

This pregnancy im 38, will be 39 when I have her, and my results have come back 1:450 and no further testing required.

Im sure you will be fine, but I know how stressful it can be xx



 
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Old Jan 5th, 2018, 07:33 AM   9
Sarah369
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Quote:
Originally Posted by Mummy of Ange View Post
I had this with my eldest who is now 5.

I refused the first trimester screening as we had previously lost twins at 24 weeks and I just didn't want any worry etc.

I had my routine 20 week scan and they said her neck measurement was 7.4mm and the cut off was 6.0mm at 20 weeks. I was immediately rushed into a side room with a consultant and told to expect the worst such as Edwards Syndrome.

They offered me the Amnio, but like you I just didn't want to risk miscarriage after all we had been through.

It ruined the remainder of my pregnancy. I was constantly on Google etc stressing out. She was born 39+6 and perfectly healthy in everyway.

My second pregnancy I got 1:180 and I was 35 and yet again refused further testing, she is now 3 and totally fine.

This pregnancy im 38, will be 39 when I have her, and my results have come back 1:450 and no further testing required.

Im sure you will be fine, but I know how stressful it can be xx
It doesnít help that I lost our daughter last year at 24 weeks for multiple heart defects and a chromosome abnormality. So at first it felt a bit like Ďhere we go againí

But Iíve slept in it and 1:138 is less than 1% chance of baby having it so Iíve decided to stop stressing.

And you know what if he/she does end up being born with DS then weíll figure it all out from there


Thanks everyone for your replies



 
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Old Jan 5th, 2018, 18:35 PM   10
Allie84
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I'm sorry for your previous loss. I would think the NHS would offer free Harmony if you had a previous loss due to chromosomal abnormality? Wouldn't hurt to ask?

And you are right, the risk is really low. Take care.



 
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