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High risk of Edwards/Patau syndrome

(36 Posts)
cherrypez Fri 06-Mar-15 16:17:00

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.

Lovemylittlebear Fri 06-Mar-15 16:38:47

sorry I don't have any experience of this but I hope things work out for you and your little one. My friend had a scare a while back...but after further testing things worked out for herxxx

FiftyShadesofGreen Fri 06-Mar-15 16:48:20

I'm getting CVS results on Monday. I've had a week since the first scan and am high risk for chromosomal anomalies. I understand how painful and horrible the waiting is.

The reality is, the odds are in your favour, as little comfort as that offers at this time. Obviously, that won't stop you worrying or give you any certainties at this stage.

You know, as you're high risk, you can have a CVS if you wanted one. I requested one on Wednesday and was in on Thursday. Results take 2-3 days.

Please take care of yourself. flowersflowers

cherrypez Fri 06-Mar-15 17:17:39

Thank you both. Fifty, best of luck to you, please update if you feel able on Monday. Was your risk due to scan or bloods?

FiftyShadesofGreen Fri 06-Mar-15 17:23:12

Thank you Cherry. If you want to speak/cry/rant to someone then please give ARC a call. They deal with tricky people like us every day wink

My bloods were normal. My result was due to a 4.1 nt. (Though the scan yesterday revealed it has gone down to 2.8 but I'm still on this road so...)

I wish you the very best xxx

KittyandTeal Sat 07-Mar-15 08:28:43

I'm so sorry you find yourself in this position.

I was low risk after my 12 week bloods (less that 1:100 chance of chromosome issues) but they picked up low papp a levels.

I had some extra scans. At my second anomaly they picked up a small brain defect. Sent to kings and they picks up lots of other soft markers. Amino came back positive for edwards. My dd2 was diagnosed at 21 weeks.

It's a horrid waiting game. I'll say most of the soft markers picked up on scans aren't usually visible until a bit later. Harmony is a great option. We had an amino because they picked up so may soft markers plus the results for the trisomies come back in 2/3 days.

I'm more than happy to share my story with you, you might not want to hear it while waiting for results.

I really hope your harmony comes back clear

KittyandTeal Sat 07-Mar-15 08:29:39

Oh and like fifty shades says, arc are amazing.

FlightofFancy Sun 08-Mar-15 19:37:00

Hi Cherry and Fifty, I'm another one on the waiting game for further results. fingers crossed we all get either something good, or at least answers If that's not possible. I'm finding it really hard to stop myself playing 'what if this then that' with all the different outcomes at the moment. hope you get news tomorrow x

FiftyShadesofGreen Sun 08-Mar-15 22:23:52

waves hello Fancy. Thank you x
Shite, isn't it?
If you don't mind me asking, what results are you waiting for?
I've everything crossed for you. Including eyes.

KittyandTeal Mon 09-Mar-15 08:09:00

Thinking of you today. Hope the results come back and are negative for you x

FiftyShadesofGreen Mon 09-Mar-15 08:46:31

Thank you Kitty. Me too. Nerves are shredded at this point x

FlightofFancy Mon 09-Mar-15 16:00:30

I'm waiting for CVS at the moment - had it done last Friday so some time this week. They're thinking the other two rather than Downs. Then if that's clear by some miracle its another week for the CGH array full genetic test results. Hope you both hear one way or other soon.

minipie Mon 09-Mar-15 16:09:31

1:19 is 5.3% so there is a 94.7% chance all is fine. Good odds.

I had 1:42 for Edwards and Patau, based mainly on bloods but also slightly high NT and "reverse ductus venosus flow" which is a marker that the NHS doesn't usually check for but my private 12 week scan at FMC did. So some minor markers. I had a CVS and all was clear.

I must admit I would personally go for a CVS (I wanted more certainty and Harmony isn't accurate enough for me on Edwards and Patau) but it all depends on how you feel about a few % uncertainty vs risk of miscarriage.

minipie Mon 09-Mar-15 16:23:02

Sorry, just read back my post and realise how blunt it sounds - not intentional. I know it must be a horribly stressful experience, and I really hope you get a good outcome. The odds really are very much on your side thanks

KatieV130 Thu 02-Apr-15 10:39:32

Just found you all on here. We had a diagnosis for Edwards following the cvs test but are waiting for the full karotype which will probably be in a weeks time. I'm 14 weeks and have been scanned multiple times by a world expert at UCLH and apparently there are no signs of Edwards which he would expect to see. But there are some abnormalities actually more consistent with Downs. Although they said we should wait, one consultant told us in his opinion there was enough evidence to terminate.
We've prepared ourselves that we will need to do that as we think the tests will come back confirming it but if they are clear we'll have to wait for amnio.
My concern is perhaps it's not Edwards but it just feels that there is something wrong that perhaps won't get picked up by the amnio.
Anyway it's a terrible time and I'm really hoping all of your tests come back clear. It's the contradictory answers which are driving us crazy. Kitty I'm really sorry to hear your news, it must be so much harder the later it gets.

KittyandTeal Thu 02-Apr-15 17:04:43

Katie I have to say the very small abnormality which triggered our amnio was only picked up at 21 weeks. They then picked up a few other issues too.

We didn't carry on with our pregnancy and had a termination for medical reasons. Everyone's choice is different but it was the right decision for us.

Feel free to pm me if you want a chat. I think quite a few of the abnormalities across the trisomies are fairly similar which is why maybe they're picking up things usually found with T21

Kaz1904 Thu 02-Apr-15 17:36:17

Hi there, what were your blood results if you don't mind me asking? My Hcg was 4.01 mom and papp-a 0.53 mom. NT was fine. I was given 1:32 for Down syndrome. Had Harmony test also and all came back good with <1:10000 risk for all 3 trisomies.

Good luck with results. It will be the hardest fortnight but you'll get there xx

AnxiousKeziah Thu 02-Apr-15 19:55:24

Good luck for results.
Our scans showed very little at 14 weeks - Prof at FMC could see nothing. Sadly by 20 weeks could see more issues.

Artfooldodger Thu 02-Apr-15 20:23:07

We were told 7 1/2 years ago that we had a 1 in 4 probability for Edwards & Patau. We also had a large abnormality called an exomphalos. I went ahead with the cvs which came back clear.
It was a very difficult pregnancy because of the worry, but he was home after 13 nights in NICU and a major op within 24 hours of birth.
He's now an active happy normal (actually is any child normal??!!) 7 year old who is on a par with his peers. We love him, but would love him no matter what had happened.
Sending love & strength to you xxx

KatieV130 Mon 27-Apr-15 15:49:33

Thanks all for your thoughts, I've neglected this as we were dealing with it all so sorry for the delay.
The full karotype came back positive for full Edwards so we ended the pregnancy last week. The whole thing is hard enough but they were suggesting we would have a medical termination which was too hard for us to do. We had a surgical termination which although incredibly painful was handled very well by the clinic so we're now trying to move on.
We will be very scared about the next one so may have genetic testing done. Anyway, thanks for all your good wishes and hope you're all ok xx

KittyandTeal Mon 27-Apr-15 20:59:03

Oh Katie I'm so sorry to hear this.

How far along were you? Have you been able to find out the sex?

We lost Rose to full Edwards at 22 weeks. There are no words to describe the pain. I had my tfmr in jan. everyday is still hard but it's easier than it was.

Arc have a forum specifically for women who have had a tfmr, if you've not joined us already please have a think about joining. It's been a source of comfort and strength for me.

Do you have a local sands group? They are also wonderful.

If I can do anything to help or if you just want a chat with someone who has an idea of what you're going through please feel free to pm me.

A line that helped me in the early days, when I couldn't get my head around what it all means 'no footprint is too small to leave an imprint on this world'

Trooperslane Mon 27-Apr-15 21:02:22

So sorry op x hmm

Crawford01 Thu 29-Aug-19 19:18:22

I am 14 weeks and I got a phone call to say my baby is 1:27 chance of having edwards and patau syndrome, I am due to go for the amniocentesis on Monday, has anybody had the same kind of results and the baby has been OK? No high Rick for downs syndrome. I have also been told I have low PAPP. 3rd child scared whitless. Thanks

FFE14 Thu 03-Oct-19 21:47:15

Hi, how was your results? Hope all was ok. I'm waiting on mine xx

riceandwhisky Thu 10-Oct-19 12:35:50

Hi everyone,
I had a harmony test that came back 99/100 for Edwards and had amnio on Tuesday at Kings.
The wait is killing me - has anyone got experiences with this wait time? I know it's only been 2 days but with my initial combined test they called the next day in the afternoon so just wandering how long the amnio could take?

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