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High risk of down's 1:121

(24 Posts)
HazyDays81 Fri 08-Sep-17 17:52:05

I had my dating scan & nuchal blood test on Weds. I was over the moon to see my little baby moving around on the scan & so happy! Then today I had a phone call to say the combined blood test, my age (36) and the nuchal measurement puts the baby in the high risk category. I was told a result over 150 is low risk. Had anyone else been in a similar position. My midwife has given me info on CVS and an amnios which I understand carry a small risk or off miscarriage & the Harmony blood test which can be done privately. I'm struggling to take it all in & would welcome any advice.

NickMyLipple Fri 08-Sep-17 18:01:24

It's such a hard decision, but I think you need you consider your actions if you 100% knew that baby had downs syndrome. If you would abort given the news, it's worth finding out for sure so you can make the necessary arrangements. If you would continue with the pregnancy you need to decide how important preparing for a diagnosis is for you - if you want to know so you can prepare, pay for the harmony test. If not, perhaps wait for the 20 week scan where abnormalities can be seen a little bit more clearly.

Sorry you are in this situation. It's a decision that only you and your DP can make. flowers

Jessybear90 Fri 08-Sep-17 18:21:47

Hi OP. We had high risk of downs in our antenatal screening as well. Ours was 1:85 and came back with the all clear after having the NIPT Iona (similar to Harmony I think) I didn't fancy Amnio because it was invasive and the risks etc. My high risk came from bloods alone, what was your NT meaaurement?

Just to give you a bit of a hand hold because I know how scary this is, be reminded that 1:121 is still low. This converts to 0.83% which means in turn that there is still a 99.17% chance everything is fine!

And remember the antenatal screening is only 85% accurate anyway so has quite a high "false positive" rate.

Speak with your OH and come to a decision together about how to proceed and get the ball rolling.

I understand how hard it is when you see your little one for the first time thrashing around like crazy in there it's so wonderful and then the wind gets knocked out of your sails as you get told your screeing results back and it's not good news. It's just such a mix of both joy and pain.

Please try to stay positive is all I can say and most of the stories you hear that are similar to yours have turned out well in the end smile

HazyDays81 Fri 08-Sep-17 18:55:38

Thank you both. It's really kind of you to reassure me & what I needed. Having the phone call at work & then getting through the afternoon acting normally has been hard. Now at home & feel at least now I can read all the info. My gut instinct is to go for the Harmony test. I wouldn't want to chance the risk of miscarriage with the other tests. When I had my scan he said the nuchal measurement looked fine so I think the midwife said it was the hormone level in my blood. Jessybear90 reading the 0.83% chance does reassure me so thank you. I had issues in a previous pregnancy with my DS (not Down's) but a lot of worries so I just wanted to enjoy this pregnancy & for it to go smoothly. Thank you for taking the time to reply x

Jasmine1111 Fri 08-Sep-17 19:06:44

I know it's still a worry but it's not that high a risk...I had a one in five risk...twice!!

Had amino both times, not overly pleasant but not too traumatic either. Both times clear.

Happy to chat you through the procedure if you decide to go for it.

Hugs as it's a stressful time xx

AnneofGreenGablesAgain Fri 08-Sep-17 19:14:59

Hi Hazy,

I'm sorry you are having this uncertainty in what you were hoping would be a calmer pg.

It is all such a personal decision, but in terms of knowing where you stand I would strongly recommend harmony. If you are in London/can get there a very good place to go is the private fetal medicine centre which is run by the guru of NHS scanning professor nikoliades. All profits from his private clinic are spent on the NHS centre at kings afaik. If harmony returns a high risk you could then check that by having is a very simple test and iirc only ten days to wait until it comes back . I couldn't fault the whole proces there in clinic terms.

AnneofGreenGablesAgain Fri 08-Sep-17 19:16:51

I meant to say a very good charity is ARC - Antenal Results and Choices. They offfer a non judgmental helpline on tests , results, suppprt with waiting and deciding and are not pro or anti any course of action if results come back high risk.

Tommy's midwife helpline is also a very good source of general supprr.

HazyDays81 Fri 08-Sep-17 21:17:56

Jasmine1111 that must have been scary to have a 1 in 5 risk, certainly puts it in perspective. Glad all was ok.

AnneofGreenGablesAgain thank you for the info, much appreciated.

Have been talking to DH & we are going to book the Harmony test (there is a private hospital 20mins from us which does this). Really hoping this provides us with reassurance.

Thanks again ladies, your support has really helped me x

Gunpowder Sat 09-Sep-17 09:01:12

I had similar results but for trisomies (nuchal and scan looked fine, was just my age and bloods/baby had fast heart beat which skewed it I think) and had the harmony. I'm so pleased I did. Results came back very low risk and I felt as though I could relax into the pregnancy. Your chances are so small at 1:121 but if your finances allow for non invasive testing I would definitely go ahead.

Gunpowder Sat 09-Sep-17 09:01:49

And I have everything crossed for you.

HazyDays81 Sat 09-Sep-17 09:29:03

Thanks Gunpowder. I'm feeling upset & emotional. The rational part of my brain is telling me it's still a small chance but now there's a doubt in my mind & I can't get past it. I'm going to go ahead with the Harmony test which I'm really hoping will give me the reassurance I need. Thank you for your reply.

Gunpowder Sat 09-Sep-17 09:40:04

It's really hard isn't it? I felt like I was in limbo and didn't want to announce the pregnancy until we knew the results.

If it makes you feel any better the doctor who did my 12 week scan told me that she expects to usually see some physical markers if there is a chromosomal abnormality and also your background risk does shoot up after 35 which makes a moderate risk result much more likely than if you were say 26. She also said in some trusts/countries anything over 1:100 is considered 'low risk' and that's all you find out. It's horrible waiting for the harmony results, but at least then you will have a far higher degree of certainty either way. I hope the harmony comes back asap with a negative result for you.

HazyDays81 Sat 09-Sep-17 09:55:20

Yeah really feeling in limbo. So happy after my scan seeing my little baby & then finding out potentially I could be high risk, feel like my emotions are all over the place. My DH keeps reassuring me that it still is a fairly low risk figure but I can't help thinking 'what if'. We have only told close family so far but I don't feel like I want to tell friends now so will wait. Just want to fast forward a couple of weeks & really hope to hear good news.

Gimmeallthecoffee Sat 09-Sep-17 10:37:33

This could have been written by me! I too recieve a phone call in work to tell me that baby had a 1/110 chance of downs. I won't lie, I was absolutely devastated. We looked at the amnio, but as the risk of miscarriage was 1/100 and the downs was 1/110 we didn't want to risk the amnio, and statistically speaking, we were more likely to risk a miscarriage than risk downs! So we opted for the NIPT.

We went to a lovely private clinic in Manchester. The staff were lovely, and did an in-depth scan before taking bloods. At the scan they pointed out everything they were looking at - all the soft markers and reassured me that everything looked as it should.

There was a wait of just over a week for the results. I won't lie, it was the worst week of my life. My only advice if you do decide to test further is to keep busy.

For us, the baby doesn't have down syndrome. We've just had our 20 week scan and baby is fine.

I know that this must be an absolutely terrifying time for you and very worrying. If your at all like me, you probably don't know what to think. I certainly couldn't, and I don't think I would have known what to do until I knew what the outcome would be.

I did alot of research on downs syndrome during my wait for definitive results. It's up to you whether you want to do this. Some things you will find very uplifting, others you will find very upsetting.

Remember tho,your chances are still very low. That's what helped to get me through the waiting a little bit Xx

abigailgabble Sat 09-Sep-17 10:48:06

did you see the bbc documentary with sally phillips sometime at the end of last year? it was very interesting and good for thought. with the enormous caveat that her life is also lovely^^ and her children are very well cared for because she's a very highly paid and successful writer and actress. if it were me i would pay for the harmony test without a doubt and take it from there flowers

Dilligaf81 Sat 09-Sep-17 10:51:27

Hi i have read the whole r thread but wanted to add my experience.
I had a downs risk of 1:25 it was a huge shock.
I was 29 this was baby 4 and I'd stupidly not given it a thought.
We did have further tests as we felt we needed to know for us and the other dc who would be potentially massively affected by the outcome.
I lost a bit of water but all came back clear. It's a decision only you can make and would it being positive affect your decision to progress with the pregnancy ?

HazyDays81 Sat 09-Sep-17 12:57:45

Gimmeallthecoffee sorry you went through similar too. Felt so helpless being at work & acting normal. I'm so glad all turned out alright for you.
Abigailgabble yes I did see the Sally Phillips documentary & found it interesting. I guess I never thought I may be in this position myself. My first DS has autism & development delay. Things can be tough as it is. My second DS is fine. Just don't know if I'd manage another child with special needs. I guess you just do.
I've definitely decided to book the Harmony test & I think will take it from there. If it was a positive result really not sure what I'd do. I know my DH would want to keep it whatever. One step at a time I think.

reallyanotherone Sat 09-Sep-17 13:02:43

Is that high? I didn't think it was particularly. 150 is a bit arbitary anyway- 149 is high and 150
Is low?

I think my risk was about 1:49, but at the nt scan they said because there was a nasal bone it was very unlikely. So i chose to do nothing and sure enough by 20w they could see chances were everything was fine.

AnitaU Wed 07-Feb-18 10:21:19

Hello HazyDays81. I have just found this thread and would love to know what happened. I am also 36 and just received a 1:121 result this evening. I am shocked and just trying to take it one step at a time. I will have the harmony test tomorrow.

Just wanted to know how it worked out for you. It makes me feel slightly better to know that there are others out there who have felt this way.

HazyDays81 Wed 07-Feb-18 14:42:30

AnitaU firstly congratulations on your pregnancy. I know what a shock it is to be told you are high risk & all sorts of thoughts will be running through your brain. I had the Harmony test & was very relieved it came back as low risk for Down’s & the 2 other trisomies they test for. Personally I would have struggled to have not found out although I think we would have continued with the pregnancy regardless. I found it a really difficult time thinking ‘what if’. I hope you get your test results back quickly & your mind is put at rest. Try & keep as busy as you can to pass the time. In all likelihood it’ll be fine. I kept reminding myself it is less than a 1% chance which puts it a bit more in perspective. You can also opt to find out the sex of the baby early from the Harmony test should you want to know. Please feel free to message me with any questions. I only have 5 weeks until my due date now & the worries we had really do feel like a lifetime ago flowers

AnitaU Thu 08-Feb-18 07:19:32

Thank you so much for your response. I had a little cry in the toilets at work this morning when I read it, because it was so lovely, not because I was sad.
I’m so pleased that your pregnancy has progressed well. Only 5 weeks to go is very exciting!
I had my Harmony test this afternoon so now just have to wait the 10 business days for results. Surely they could do them faster?? Anyhow, I’m glad you are well and I’m sure we will be too. Thanks again for your kind words xx

HazyDays81 Thu 08-Feb-18 13:26:49

Oh bless you. It is such an emotional time. I looked through lots of old mumsnet threads looking for positive outcomes which I found helped me. That’s great you’ve had the test done. Mine also said 10 working days but I got the results back just over a week later so hopefully it’ll be a bit sooner than you think! Wishing you all the best. Try to keep remembering it is less than a 1% chance which in my mind is very low! Please let me know how you get on xx

AnitaU Fri 16-Feb-18 09:54:15

Hi again all. Just wanted to send an update for anyone else who reads this in the future.
I received my Harmony results this afternoon after only 6 days and am pleased to say all three chromosomes came back as low risk. The relief that I felt was immense and I must admit I cried for a fair while. I hadn’t realised how stressed and worried I was until I got the news. My husband wasn’t anywhere near as emotional as he had decided everything was fine all along. That must have been a nice reality for him!!
I am glad we went ahead with the testing. I’m not sure what we would have done if the results came back the other way but I’m glad we didn’t need to decide.
Thanks again for making me feel a little bit less alone in what was a difficult time. Big hugs to all xxx

HazyDays81 Fri 16-Feb-18 13:07:25

AnitaU I am so pleased to hear you received your results & you are low risk! It is a massive relief isn’t it. I too found it very emotional although my husband didn’t seem to be as affected. I think it is different for us as the ones carrying the baby. I hope you can relax now & enjoy a happy pregnancy flowers x

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