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Original poster

High Risk Down Syndrome

15 replies

lmadg86 · 16/09/2022 14:07

Hi all,

Looking for some experiences that might help my anxiety!

I was told yesterday that my risk of Down Syndrome is 1:57 (other disorders were 1:9000)

Oddly the midwife told me that my scan was "perfect" and my bloods "weren't abnormal but showed a pattern" - I'm wondering if anyone else has had this experience? It seems really high risk based on what she said.

How much does BMI and age impact the score? My BMI is 28 and I'm 36. 14 weeks pregnant (scan was at 13.5 weeks)

I've booked for a harmony test but any shared experiences or additional insight would be great!

Thank you

OP posts:
HoneysuckleMoon · 16/09/2022 15:54

Hope you're doing okay . I'm going through something similar. I'm 25years old , and I'm almost 13 weeks.

The NIPT (Harmony) test will give you some peace of mind. I had the genetic testing at 9 weeks and everything was negative but our 12 weeks scan showed the NT Fluid is measuring 6mm when it should be 3.5mm max which is apparently a strong marker for Down Syndrome or other chromosomal disorders.

So we are trying to be positive that the baby is healthy and that the fluid will resolve.

Hoping you get the same result from your genetic testing , your baby is in my prayers x x

Original poster
lmadg86 · 16/09/2022 17:40

HoneysuckleMoon · 16/09/2022 15:54

Hope you're doing okay . I'm going through something similar. I'm 25years old , and I'm almost 13 weeks.

The NIPT (Harmony) test will give you some peace of mind. I had the genetic testing at 9 weeks and everything was negative but our 12 weeks scan showed the NT Fluid is measuring 6mm when it should be 3.5mm max which is apparently a strong marker for Down Syndrome or other chromosomal disorders.

So we are trying to be positive that the baby is healthy and that the fluid will resolve.

Hoping you get the same result from your genetic testing , your baby is in my prayers x x

Thank you. And fingers crossed all works out for you too!

OP posts:
Charlottie6 · 18/09/2022 09:35

Hi, I can’t really offer you any advice but this happened to me last week too. Im 31 and 14 weeks pregnant. The fluid was 2.9 so still in the normal range but my hormone levels from my blood tests were either above or below 1 so we have a 1 in 71 of downs. I am devastated and have cried so much since we got the news last week.

have you been offered any further testing? I really hope things turn out okay for you. The anxiety is overwhelming sometimes.

Original poster
lmadg86 · 18/09/2022 10:40

Charlottie6 · 18/09/2022 09:35

Hi, I can’t really offer you any advice but this happened to me last week too. Im 31 and 14 weeks pregnant. The fluid was 2.9 so still in the normal range but my hormone levels from my blood tests were either above or below 1 so we have a 1 in 71 of downs. I am devastated and have cried so much since we got the news last week.

have you been offered any further testing? I really hope things turn out okay for you. The anxiety is overwhelming sometimes.

I'm sorry you're going through this too. It's such a worry! But after doing LOTS of googling it does seem that has happened to a lot of people and the outcome has been positive so fingers crossed for us both.

I'm going to the NIPT blood test tomorrow morning and have also booked in for a private harmony test. I don't feel like the NHS scan was very thorough so would like a more intensive look at baby... hoping it might reassure me Sad

OP posts:
RaraRachael · 18/09/2022 10:47

My daughter was told she had 1 in 92 chance of Down's so had the NIPT test which came out as low risk. Happily baby is fine but it was still a worrying time as even the NIPT test is not 100% accurate. Hope all goes well for you OP.

Charlottie6 · 19/09/2022 23:16

What does a harmony test involve? I would also be interested in a further scan x

alotoftutus · 19/09/2022 23:29

Hi I can't offer advice as im going through the same and am completely broken, but didn't want to not comment.

My chances are unfortunately higher than yours at 1:6 for DS my NT measurement was fine at 2.3 but Papp A was low 0.4 and HCG was also slightly low at 0.80 I'm 38 which would also drive up the risk.

I have been waiting for my results almost 2 weeks (Wednesday) and in all honesty I don't think you can reduce anxiety - well I certainly haven't. I've been ok one minute and In Floods of tears the next, I've woken up in the night having a panic attack and my chest is so tight I feel like I'm suffocating. It's the most painful experience.

Im sorry I can't offer advice, but am here if you need a chat. Be gentle on yourself it's a lot to deal with and try and process xxxx

Original poster
lmadg86 · 20/09/2022 07:58

Charlottie6 · 19/09/2022 23:16

What does a harmony test involve? I would also be interested in a further scan x

Harmony test is a more accurate blood test (99.7% I believe) and a more in-depth scan that looks for key markers. I don't know about your experience but the NHS scan wasn't very detailed...

OP posts:
Original poster
lmadg86 · 20/09/2022 07:59

alotoftutus · 19/09/2022 23:29

Hi I can't offer advice as im going through the same and am completely broken, but didn't want to not comment.

My chances are unfortunately higher than yours at 1:6 for DS my NT measurement was fine at 2.3 but Papp A was low 0.4 and HCG was also slightly low at 0.80 I'm 38 which would also drive up the risk.

I have been waiting for my results almost 2 weeks (Wednesday) and in all honesty I don't think you can reduce anxiety - well I certainly haven't. I've been ok one minute and In Floods of tears the next, I've woken up in the night having a panic attack and my chest is so tight I feel like I'm suffocating. It's the most painful experience.

Im sorry I can't offer advice, but am here if you need a chat. Be gentle on yourself it's a lot to deal with and try and process xxxx

I'm so sorry you're going through this too. It's such a worry! I've had terrible sickness throughout my pregnancy and just went I had started to feel better and like I could enjoy it without the miscarriage fear this happens. Keeping my fingers crossed for good news for you xx

OP posts:
Fedupmum21 · 20/09/2022 08:23

Morning ladies, I had to comment as I went through this last year with my second child and I know how awful it is! I was late to be dated (baby was being awkward at 12 week scan, so I went back at 15 weeks and still they couldn’t get the measurements so I wasn’t dated until 16 weeks) and I got a call a few days later saying that I was 1 in 14 for downs. I was beside myself with worry, didn’t sleep or eat, it was awful. I went for the NIPT and waiting for the results was hell on Earth. Luckily, after a weeks wait (felt like a year) out NIPT came back low risk for everything. The relief was indescribable, then I felt so guilty for how upset as I had been and the possible effect of stress on the baby.
i subsequently gave birth to my baby at 28 weeks due to severe pre eclampsia and regret so much how I made myself ill with worry and didn’t enjoy my pregnancy. She’s doing brilliantly now, and does not have DS. I posted on the antenatal test board and it’s crazy how many women have high results from the NHS screening and nothing is wrong- if I had known this I wouldn’t have agreed to the test. I’m (unexpectedly) pregnant with my third and declined the testing and paid privately (£400) for the harmony test- best decision I made as I avoided all stress!
So what I’m trying to say is that the odds are in your favour that everything is fine, the NHS screening really is very unreliable. Be kind to yourself, have a cry, whatever you need to do, but also look after yourself, nice baths, walking my dog helped me, because the likelihood is that all is fine. I know it’s easy for me to say that as I’m out the other side but so many women have falsely high results and even at 1 in 14 (my result) it’s over 90% that everything is fine.
The charity ARC was recommended lots to me when I posted, I never contacted them but apparently they are brilliant for advice and information.

Original poster
lmadg86 · 20/09/2022 13:20

Fedupmum21 · 20/09/2022 08:23

Morning ladies, I had to comment as I went through this last year with my second child and I know how awful it is! I was late to be dated (baby was being awkward at 12 week scan, so I went back at 15 weeks and still they couldn’t get the measurements so I wasn’t dated until 16 weeks) and I got a call a few days later saying that I was 1 in 14 for downs. I was beside myself with worry, didn’t sleep or eat, it was awful. I went for the NIPT and waiting for the results was hell on Earth. Luckily, after a weeks wait (felt like a year) out NIPT came back low risk for everything. The relief was indescribable, then I felt so guilty for how upset as I had been and the possible effect of stress on the baby.
i subsequently gave birth to my baby at 28 weeks due to severe pre eclampsia and regret so much how I made myself ill with worry and didn’t enjoy my pregnancy. She’s doing brilliantly now, and does not have DS. I posted on the antenatal test board and it’s crazy how many women have high results from the NHS screening and nothing is wrong- if I had known this I wouldn’t have agreed to the test. I’m (unexpectedly) pregnant with my third and declined the testing and paid privately (£400) for the harmony test- best decision I made as I avoided all stress!
So what I’m trying to say is that the odds are in your favour that everything is fine, the NHS screening really is very unreliable. Be kind to yourself, have a cry, whatever you need to do, but also look after yourself, nice baths, walking my dog helped me, because the likelihood is that all is fine. I know it’s easy for me to say that as I’m out the other side but so many women have falsely high results and even at 1 in 14 (my result) it’s over 90% that everything is fine.
The charity ARC was recommended lots to me when I posted, I never contacted them but apparently they are brilliant for advice and information.

Thank you for sharing your experience. If I have another baby I will definitely go straight for the private Harmony test - it's not worth the weeks of worry!

OP posts:
alotoftutus · 20/09/2022 23:53

@Fedupmum21 thank you for sharing. My NIPT was 2 weeks ago tomorrow and I still don't have my results! To be honest I'm pretty certain that my test will come back as high risk, just a gut feeling I guess. I've decided whatever happens with this pregnancy I'm getting my tubes tied at the end of it. I couldn't mentally go through this again it's just too much.

Original poster
lmadg86 · 23/09/2022 20:22

lmadg86 · 16/09/2022 14:07

Hi all,

Looking for some experiences that might help my anxiety!

I was told yesterday that my risk of Down Syndrome is 1:57 (other disorders were 1:9000)

Oddly the midwife told me that my scan was "perfect" and my bloods "weren't abnormal but showed a pattern" - I'm wondering if anyone else has had this experience? It seems really high risk based on what she said.

How much does BMI and age impact the score? My BMI is 28 and I'm 36. 14 weeks pregnant (scan was at 13.5 weeks)

I've booked for a harmony test but any shared experiences or additional insight would be great!

Thank you

Hi everyone,

I wanted to post and update you all for anyone in a similar situation manically Googling like I did!

I had my test results from the NIPT and everything has come back low risk - very relieved!

We also paid for a private scan earlier week. The doctor was super thorough and went through all the markers - she spent about 40 minutes with us. If you can afford it I would say this is a good way to put you mind at ease - I felt a lot more positive when she told us baby looked healthy.

Hope you all have positive outcomes x

OP posts:
Charlottie6 · 24/09/2022 07:25

Great news! I’m still waiting on my NIPT.

I have called local scan places and asked for a detailed scan but none have said they would check fluid, markers etc. Which scan did you have?

Original poster
lmadg86 · 24/09/2022 08:18

Charlottie6 · 24/09/2022 07:25

Great news! I’m still waiting on my NIPT.

I have called local scan places and asked for a detailed scan but none have said they would check fluid, markers etc. Which scan did you have?

There is a lady close to us that does private scanning. It's part of the harmony testing but she just did the scan part as the blood test is the same as the NHS one. Not sure if many places will do that or if you have to pay for the full harmony testing? She did fluid, markers, checked baby's heart etc.

OP posts:
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