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Original poster

High down syndrome risk after combined test

50 replies

trace1105 · 18/03/2017 11:33

Hi, I'm 42 and 14.4 weeks pregnant with my third child which we consider to be our miracle baby as my partner was told he couldn't have children and my other 2 are 17 and 15 to my previous partner. I had a high nt measurement at a private scan at 13 weeks which I had to book after a small bleed as the NHS couldn't scan me for 4 days. I then had my NHS 12 week scan and measured nt 2.9 which along with my combined bloods gave me a 1 in 7 risk. I'm terrified of having the amnio so we opted for the Iona test which cost us £300. We are still awaiting the results but the fetal medicine midwife called from the NHS on Thursday to tell me that they had relooked at my scan and they thought the nt measurement was higher than the 2.9 which we were told and therefore my risk was higher than 1 in 7. I know this won't affect the iona result but I am absolutely terrified, I feel like all of my insides are shaking all the time, I can't sleep and I'm absolutely petrified we are going to get a bad result. Is anyone else in the same situation? Many thanks for your time to read this post x

OP posts:
Original poster
trace1105 · 18/03/2017 12:04

Sorry that looks odd... I forgot to say I didn't have my 12 week scan with the NHS until I was 13.4 weeks which was after the private scan x

OP posts:
Elkalv · 18/03/2017 13:15

I just want to hug you and hope you get good results with Iona test. I wish your little bean all the best, I read hear lots of stories when results of the test is very high and still baby is born absolutely normal. I am sure ladies who has gone through similar situation will share your stories. When do you get results back?

Original poster
trace1105 · 18/03/2017 13:49

Hi Elkalv, thanks so much. I keep trying to be positive but I can't help but think the worse so I'm probably not helping myself at all. I should find out on Monday or Tuesday next week at the latest so I will let you know how we get on. Until then I am trying my best to stay as calm as possible and block it out, when i can, keeping everything crossed x

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Seahawk80 · 18/03/2017 19:13

I came back as 1.13 I really feel for you, it was the most awful time waiting for the results. It was my birthday and we went out as planned and tried to have a nice day but I just remember feeling horrible. Everything was fine in the end for us, I hope it is for you too. The NHS scans come up with so many false positives, I wouldn't have them again, I'd just go straight for the harmony / Iona. Good luck and try to do nice things to distract yourself. I found reading a good book that held my attention the best thing to do, I re read a lot of the Harry Potter books while waiting. Try to stay positive and remember there is a very good chance that your baby is fine - 6/7.

Good luck and please let us know how you get on Flowers

Original poster
trace1105 · 18/03/2017 19:48

Thank you Seahawk80, I'm so glad all was well for you. I will try the reading as a distraction for sure and I will let you know how I get on. I will hopefully know by early next week. I know someone has to be the one who gets the bad news, but being totally selfish, I just really really hope it's not us. Thank you for taking the time to comment, I really appreciate it x

OP posts:
Singingforsanity · 18/03/2017 20:32

Hi there

Just wanted to say that although we all wish our little ones the best of health, Down's Syndrome honestly isn't the end of the world. There are some Facebook pages following little ones with DS, raising awareness and showing that you can have DS and still have a fantastic life. I'd look at Ollie & Cameron, two amazing wee guys (identical twins) who totally rock life in general.

EdenX · 18/03/2017 20:50

1/7 still means an 85% chance everything is fine, doesn't it? When you hear it that way the odds look pretty good.

Original poster
trace1105 · 18/03/2017 21:54

I know your right singingforsanity but at nearly 43 I really don't feel like I could care long term for a child with any disability. I totally understand that it's everyone's personal choice but it's just not mine x

OP posts:
Original poster
trace1105 · 18/03/2017 21:57

Your right EdenX the odds don't sound bad at 1 in 7 but like I said the midwife said my nt measurement was higher than they put on my combined test therefore my odds are lower than 1 in 7, hence the reason that I'm even less confident about it all x

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flapjackfairy · 18/03/2017 22:07

I had a 1 in 4 risk of autism with my third and she was fine. So try not to be completely consumed with worry.
I also have a foster child with complex needs and have just adopted a 2yr old also with complex needs . Honestly downs syndrome is not the end of the world by any means and all kids ,even those with sn are a huge blessing.
Having said that i understand your viewpoint and really hope you get a good outcomeX

Fairybella · 18/03/2017 22:11

I hope this all works out for you

HabbyHadno · 18/03/2017 22:13

I had a 1:14 result in my last pregnancy and my CVS results came back negative. The stress of that time will stay with me forever though, that wait is awful.

This time I didn't have the NHS test as I think it's highly unreliable and throws out a lot of false positives. I had a NIPT instead, which came back fine.

I hope your result is ok. The odds are still quite small if you look at it percentage wise and not the 1:xx amount, I know that still doesn't stop the worry though. I hope you they get back to you asap.

lashesandflashes · 18/03/2017 22:19

Is it not the case that the later you have the combined test done the more likely the nuchal measurement will come back thicker as the baby is bigger? I had the same issue but everything worked out fine for us. Good luck. It's a worrying wait

Patriciathestripper1 · 18/03/2017 22:23

Trace I was like you so I bit the bullet and had an amino. Nowhere near as bad as I thought and totally reliable. Thankfully it was good news for us and my Dd had no problems. I feel for you as I know how it makes you feel.

MissAdaSmith · 19/03/2017 08:16

I know your right singingforsanity but at nearly 43 I really don't feel like I could care long term for a child with any disability.

There is only one way to guarantee to have a children without disabilities - don't have them.

The standard tests only check for the most common chromosome disorders (T21 etc) but there are lots of very rare chromosome disorders that will not be detected in any antenatal screening test, same goes for a lot of other disabilities (autism where the numbers are on the rise).
I have a child with severe and complex needs and the nature of her condition would not have been picked up by any ante natal test.

Occadodo · 19/03/2017 08:51

Totally agree with MissAdaSmith .... don't have children as they don't all come with a 'perfect' guarantee.

I have two DC with disabilities, neither picked up by any scan or test. DS7 is severely disabled and he was tested regularly throughout pregnancy!

I wish your child the best of luck.... I certainly hope for their future they get a clean bill of health!!!

PTphonehome · 19/03/2017 09:58

I know your right singingforsanity but at nearly 43 I really don't feel like I could care long term for a child with any disability.

I think this is a perfectly normal way to feel and I don't think the last 2 comments above are kind or helpful.

I hope that the test comes back clear, I hope you don't need to make the decision x

Donsoftheworld · 19/03/2017 10:11

I know your right singingforsanity but at nearly 43 I really don't feel like I could care long term for a child with any disability. I totally understand that it's everyone's personal choice but it's just not mine

This is a valid point of view you are completely entitled to, do what's the best for you and your family.

MissAdaSmith · 19/03/2017 10:12

of course it is normal to feel that way - nobody debates that. But there simply is no guarantee for a healthy child and OP made it clear she wouldn't want a child with SN.

Original poster
trace1105 · 19/03/2017 13:55

Thank you for the kind comments, as for the others... with 2 children and a previous miscarriage under my belt I am perfectly aware that they don't come with a guarantee but at 43 I feel that I am not able to care for a child with a disability therefore if a condition is detected then I am going to do what is right for me and my family. I have absolutely nothing against anyone with disabilities, a couple of my friends have disabilities and a friend has a child with downs who is just adorable. I am having a hard enough time going through this wait at the minute without bitchy negative comments so please, if you have nothing nice to say, just say nothing at all! Apologies if I've upset anyone x

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Peachsploosh · 19/03/2017 14:08

I had a 1:2 result with DD. I had a cvs & it came back negative for downs so Drs said it must be a heart problem. She is now 7 & absolutely fine. My understanding is a high nt could mean anything from a cleft palate to a club foot, not necessarily downs.
I hope everything works out for you. The waiting is awful.

Spink · 19/03/2017 15:00

Hi Trace
It is an incredibly stressful, frightening & confusing time waiting for results like this. While you're waiting, try to look after yourself - do whatever soothes you, avoid googling about tests if you can (I couldn't & it just upset me more) & be with people who care for you.
In Feb we went through similar- we had 1:12 risk from NHS scans & then a positive Harmony result for T21. I'll be 41 at term, and have 2 kids 8&10 years old so to start with felt very overwhelmed at the idea of having a daughter with DS (we also found out we're having a girl) For us, in the end it felt right to carry on with the pg, & now I feel excited about meeting our little girl (though still scared at times). But I understand completely feeling that it's not ok or right for you. There is no right or wrong response to this kind of situation, just be honest with yourself and kind to yourself.
Good luck x

Original poster
trace1105 · 19/03/2017 15:48

Thank you so much Spink, congratulations to you all x

OP posts:
HN42 · 19/03/2017 17:36

I imagine the increased risk is a combination of your age and the NT result - 2.9mm is on the higher range of normal and a lot of people with measurements on the higher end of normal find themselves eventually becoming a false positive result with the combined screening.

I was initially reassured by a measurement of 3mm at my 12 week scan as I knew that was within normal ranges and I nearly didn't do the combined screening but then I went through with it and my results came back high risk. We did the private test and it came back clear. I know exactly how you are feeling and it's horrible not knowing what the result is going to come back as. Just try to keep positive and try to do anything you can to keep your mind off it. Good luck, I hope the results come back clear for you.

aprilanne · 19/03/2017 17:45

trace1105 unfortuately if you ask for advice not everyone is going to agree with you or be nice .so in the same vain if you dont want negative comments dont post on mumsnet .because you are saying that if the baby is not perfect you dont want it to be born which deeply offends those of us with a less than perfect child . everyone is entitled to do what is best for them

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