NT came back high risk for Downs Syndrome

[Sarah369]

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

I’m looking at having the harmony /nipt test as it’s non invasive but it’s £399 as only available privately. Don’t think we can spend that.

Anyone got any stories they can share. I’m aware it’s 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

 

[Allie84]

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?!

 

[Sarah369]

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 don’t have the breakdown of results here. I’m 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

 

[Allie84]

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 don’t have the breakdown of results here. I’m 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.

 

[krissie328]

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.

 

[Unexpected212]

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

 

[Unexpected212]

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

 

[Mummy of Ange]

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

 

[Sarah369]

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 doesn’t 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 ‘here we go again’

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

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


Thanks everyone for your replies

 

[Allie84]

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.

 

[Sarah369]

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.

It’s not available on nhs at our hospital. It’s something they’re looking into but not got at the moment.

 

[Bonnie11]

I think it really depends on your feeling a towards having a child with downs/other chromosomal abnormalities. If you would still carry on the pregnancy then is it worth having the harmony test? If you wouldn't then maybe have the test. Sorry you're having to go through this! X

 

[WackyMumof2]

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

I’m looking at having the harmony /nipt test as it’s non invasive but it’s £399 as only available privately. Don’t think we can spend that.

Anyone got any stories they can share. I’m aware it’s 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

Don't know if this helps but I remember when I was pregnant with my eldest I had an appointment for the screening. A family member asked me is it really worth being told something MIGHT be wrong with my baby and me spending the rest of my pregnancy being resentful instead of happy? Would it change me loving him regardless?? I decided it wouldn't change a thing and that I would love him regardless so I canceled my appointment. He was born happy and healthy after a stressful 12 hour labour and an emergency section. But I do understand being in your position. Follow your heart and trust your instincts.

 

[lilmisscaviar]

Honestly even though it is considered a "high risk" it is still only a 1 in 130 chance of your baby having it. In other words, less than 1%. If you're willing to care for the child either way then I wouldn't do the Harmony test, otherwise you might just be worrying yourself sick the rest of your pregnancy, and don't pregnant women already have enough to stress about? Just keep an open mind that the baby *could* potentially have DS so be prepared for that, but the likelihood of the baby actually having it is still pretty slim. It is a difficult decision. Lots of hugs to you

 

[dinidani]

In my experience with ds3 his nt was high which made his downs risk at 1-115 i did opt to have the ninpt which was a simple blood test at 13 weeks which came back at 50% chance so we decided we will wait to see when he was born they was able to test for gender too soo knew from 13 weeks but he is now nearly 3 with no abnormalities so caused too much stress for nothing hopefully its the same for you xx

 

[Sarah369]

Little update. Had the nipt done today. Decided even though it won’t effect our decision to continue the pregnancy. I’d rather know either way so I can either relax and enjoy the pregnancy without any questions over my head or learn all I can so I can best care for my baby’s needs

 

[Bonnie11]

Absolutely the right thing to do. Hope it's a quick result for you xx

 

[Sarah369]

Absolutely the right thing to do. Hope it's a quick result for you xx

Thank you. I’ll update once I get the results

 

[Allie84]

Expecting a positive outcome for you.

 

[Sarah369]

Got my results today. All clear. Such a relief.