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Pregnancy

Edwards syndrome: 1 in 19 risk result

10 replies

cherrypez · 06/03/2015 16:13

I had a phone call today from the specialist MW at hospital today, as my bloods have come back with a 1:19 risk of Edwards or Patau syndrome. I went straight in for the Harmony test, which will give results within 14 days. I was offered CVS but the midwife seemed to be dissuading me from having it, her main reason being that there were no obvious abnormalities on my scan on Weds. I'm approaching 14 weeks now, have told most family and friends, colleagues etc.

What I'm most hoping for is, apart from a hand hold, people to tell me their experiences of having this horribly high result but all being well...conversely, I'd like to know if anyone has had a seemingly clear scan but a positive Edwards diagnosis after bloods.

I really felt like the midwife was gently suggesting it was unlikely baby had it...but maybe that's just what I wanted to hear?

Thanks for listening, I'm pretty shaken and upset, would appreciate any experiences, good or bad, people wouldn't mind sharing.

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Dildals · 06/03/2015 16:26

I don't have any experience with this, but just wanted to offer a handhold.

I had the Panorama test done (similar to Harmony) and she said that a lot of the ladies that come in had 'bad odds' via the scan+blood test and a large % of them turn out to be fine based on the Panorama/Harmony test.

I hope this is the case for you too.

On the trisomie18.org website (I got curious as to whether you could detect Trisomie 18 on a scan) it says:

' Studies have shown that most (but not all) babies with Trisomy 18 show some abnormalities during ultrasound (ref 1,2). Other studies have shown that a single marker found on ultrasound is usually not a good indicator of a chromosomal condition (ref 3,4). In other words, if only one marker is found during a level 2 ultrasound, the odds are very high that the baby is healthy. '

So I guess the MW did imply that your baby might well be healthy, given nothing untoward was seen on the scan.

Still, no guarantees until your Harmony test comes back, I guess.

Good luck ... (my test results came back in 10 days, so maybe yours will be a bit quicker too).

x

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cherrypez · 06/03/2015 17:19

Dildals that's massively helpful, thank you, I did feel like the MW was implying that she thought the baby was ok. She also said it could be 10 days for a result in best case scenario.

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S2b16 · 06/03/2015 17:57

So sorry to hear that, sorry I have no experience at all. I hope your baby is ok. Just wanted to let you know there's a page on Facebook, called Emily's star, it's set up by a woman who's daughter lived 26 with trisomy 18, I think if you posted on there you'd get more advice. (Some stories are heartbreaking but some have been positive).
I hope you get some positive stories soon, fingers crossed your midwife is right x

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S2b16 · 06/03/2015 17:58

26 days sorry

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willywallace · 06/03/2015 18:10

There's an organisation called SOFT which you may find helpful. I think it is common for markers to show up on the ultrasound but obviously each case is different. I hope you get good news from the test Thanks

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Gemerama · 06/03/2015 18:33

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Turquoisetamborine · 06/03/2015 21:58

I tested for 1 in 27 for downs, Edwards or pateaus. I opted to have the nifty test which also involves a detailed scan. The sonographer said she would be very surprised from looking at the baby if the test came back positive for any of the trisomies.
Ten days later it came back 99% clear for any trisomies and we found out we were expecting a boy.
I remember the horror of that phone Call though and only my friend who had come back as a one in ten chance and had an amnio, got me through it (hers was also clear).
I hope you get the same good result.

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jessplussomeonenew · 07/03/2015 08:16

I had a 1 in 53 risk of Edwards based on bloods and all was fine. I would guess you have low Papp-a, like I did (0.16), which in my case was probably due to having a slightly dodgy placenta, though it all turned out fine in the end.

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D00dles · 07/03/2015 14:44

Hi I've recently gone through this and it's so stressful. So please look after yourself! I was given a 1:90 chance if a chromosome disorder but had an amnio and it was all clear. I suspect mine was a bit different as my risk was based on the fluid behind baby's neck. Good luck x

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Frasras11 · 07/03/2015 17:53

My sister was told at her 20 week scan that her daughter looked likely to have it. There were markers on the scan (eg cyst on the brain) that lead to the diagnosis. She was subsequently scanned every few weeks after that. At around 35 weeks they told her the markers had disappeared as the baby has grown and she gave birth to a healthy girl.

I hope it all turns out well for you and baby is healthy. Please let us know xx

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