Edwards syndrome markers

[Starlive22]

I've been told I've got too much amniotic fluid and the baby is measuring a bit large for dates.

I've got another growth scan in 2 weeks.

Afterwards the doctor mentioned Edwards Syndrome as a possible cause (amongst many others) and this has me so worried.

The 20 week scan showed no abnormalities at all, everything seemed perfect...I just stupidly assumed that meant that these types of things would be spotted.

My blood test result didn't mention Edwards or Patau Syndrome just said I was lower risk for Down's syndrome and I left it at that, nobody mentioned anything until now.

Is it possible my baby has this life threatening syndrome and it has gone unnoticed? She looks so perfect from the scan...I feel so panicked. Will know more after the scan on 2nd Jan but feel like I'll panic all over Xmas now because of this.

I just assumed it would have been picked up in an earlier scan?

Starlive have you discussed an amino with a consultant obstetrician?
If not I'd be putting my foot down and asking to see a consultant in ante-natal clinic (and I say that as a dr myself)
However I do think that if the midwife who did your scan today had any concerns you would be being scanned by an obstetrician or referred to foetal maternal specialist.
Hope you're ok, pregnancy is an anxiety provoking time without all these extra worries on top for you

@bringonthesunn I haven't even considered it, I honestly hadn't even heard of it before this, but will enquire when I go back for my next scan.

Thanks very much for the advice, really appreciate it especially as it's just something I'm new to!

It seems like one comment from a (junior?) doctor has been allowed to sit with you, understandably worrying you hugely, and it would be good to be able to discuss it throughly with a suitably qualified consultant who could talk you through a scan, and answer all your questions with confidence.

Op I know you referred earlier to trusting medical professionals and of course they have the expert knowledge. I just wanted to add that, in my experience, you are the expert in your pregnancy. You are the person there at every appointment. You remember all the details that the experts don't. Please don't be afraid to ask, challenge, insist and make a nuisance of yourself to get the treatment and information you need.

I feel for you so much- I had early miscarriage, followed by pregnancy full of anxiety. I cried buckets. My growth scans showed huge baby- when sonographer said head measurements were off the charts I cried for days. It affected every part of my life and relationship.
However, I have a perfect 19 month old. She’s amazing. Born at perfectly average 7lb 3. Average head.
This awful time feels like forever at the moment, but will soon be done.
Hang in there. Do what you need to to look after you- long baths, crap tv. Chocolate. Whatever gets you through. From the other side- pregnancy was awful, I’m not sure I’ll ever do it again, but I wouldn’t change it.

@Cantchooseaname gosh you sound like me!! Hopefully I'll be in the same position as you soon, I have to admit I've been incredibly nervous this whole time and this has just set my

...anxiety off worse than ever. There isn't that much longer to go but I think part of me still can't believe it's real and that there will actually be a person here living with us! Just seems too good to be true. I know it makes me more neurotic though x

I think I'm going to have the Harmony test, there is a place outside my village that does it for £450 so not cheap but for peace of mind alone I'd be willing to pay it. Does anyone know if there is a cut off point in gestation, or the accuracy of these tests? It doesn't say on the website for the place, just that it's 99% accurate for Down's syndrome not the other two x

Harmony test booked...just the not knowing is killing me...it's next Tuesday and they said results will take 10 days but at least I'll have a much better idea if my situation.

Thanks again to everyone for all the support and kind words and helpful suggestions. I'll update when I know more. Fingers crossed it's just an over zealous doctor!

Really feel for you OP :( was hoping you'd have a more definitive result from your scan.
RE the harmony test, I found this website with a load of info about it www.advancedwomensimaging.com.au/harmony-test-non-invasive-prenatal-testing-nipt
Hope it helps to make your decision easier

Thanks @MissYeti I've given it a read and although it's not 100% it does seem very accurate doesn't it.

If this test comes back clear the doctor said she will take that as good enough and I won't have to have the amnio. I think just to know one way or the other will just the cost, just have to hope it's good news.

I dont think anyone wants to guarantee 100% because if it comes back that they were wrong you can sue them. But stats in the 90s should always be reassuring!
Peace of mind is always worth the cost, imo. You don't want to spend the rest Of your pregnancy worrying, that won't do you Or baby much Good at all. I hope the wait for the results isnt too torturous for you and that it's a good result in the end

@MissYeti thanks I agree completely, I'd love some peace of mind. I think waiting for the results will be awful but if not I'll just be waiting until the baby is born and worrying the whole time anyway so this is still quicker xx

I feel like I've read so much about Edwards Syndrome in the last few days I feel like I could write a thesis on the subject, pregnancy is such a scary time if things aren't going perfectly. I feel like it's quite isolating in a way. Just some thoughts really. It seems we are all just meant to be glowing and happy and if you mention any worries it's as if you are being morbid.

Sorry, waffling a bit now and probably feeling sorry for myself!

You're entitled to feel sorry for yourself - you're going through a worrying time.
However it does sound reasonably positive after the scan. I'm no expert, but at least it sounds as if the hospital are just trying to rule out a worst-case scenario, rather than they've definitely seen something worrying.

I hope the harmony scan brings good news

Hi Starlive,

I have raised fluid (which concerns me) and abdominal circumference upper end of normal (other two measurements average). The consultant isn't jumping up and down about any of it at the moment (I am 28 weeks today). But I have had the harmony test (mainly due to my age nigh on 44) and it came back as low risk for everything, which I think is why no-one is particularly jumping up and down at present. Yes, it is expensive but I think it is a great test to have done and yes the wait for the results was worrying but then I got a sense of moving on (though I have experienced a late loss at 22 weeks - different issues). Thinking back, I believe I had raised fluid when expecting dc2 going on her birth when she emerged on a tidal wave...but I wasn't deemed a high risk pregnancy then so not as many scans etc. I am trying not to panic but continually get psyched up before a scan. I have also incidentally been checked for gestational diabetes but apparently I am not even borderline...so currently no explanation...I'm sorry you are facing a worrying time.

@User45632874 hey sounds like we are in a similar position, have they scheduled you in for any follow up scans?

Glad you had a good experience with the Harmony test, although I expect I'll be nervous as anything waiting for the results. Still, there are so many uncertainties with pregnancy it will be nice to at least have one thing less to worry about (hopefully of course).

So sorry for your previous loss, think once you have lost your innocence with pregnancy it's hard not to worry

I feel like I just can't stop crying, I'm finding it so hard to be at work or concentrate on anything and I haven't even had the test yet. What will I be like waiting for the results.

Ever Since they mentioned Edwards Syndrome But now that I know more about the condition I know lots of Edwards babies look normal on ultrasound so I'm not giving myself any false hope.

This baby has been longed and dreamed for for years...I feel now like she is going to be taken away from me.

I don't really know why I'm writing all this, I just feel like it's better to get it off my chest now rather than sitting at Work crying and not really wanting to say why.

So sorry you're struggling so much. Please remember that most babies do have significant markers and if they saw anything they would tell you / refer you on x

@SleepingStandingUp thank you. Trying to stay positive but the hospital have put the fear of god into me. I feel like one minute I feel positive and the next hopeless. Hoping the Harmony test will give me some peace of mind either way. Just wish I'd had it done before Christmas when I had the chance but I think fear of knowing for sure seemed to put me off.

Thanks for keeping me in your thoughts, even though it's only a forum the support has been wonderful, it's keeping me at least half way sane xx

Thats ok, just keep venting jere. Much better for you and your little girl to let it all out x

@SleepingStandingUp I had a look at the Facebook group for Trisomy 18. There seems to be a lot of people who didn't find out until their baby was born, I thought that was rare but I saw a couple of people say that. Also it seems that excess fluid is a very common indicator, maybe that's why the doctor has suggested the amnio? Almost every person on one of posts said they had too much fluid.

As heartbreaking as it is to see I'm glad I looked. I think I needed to make myself see it as it seems like a possibility and I suppose it's best to be as prepared as can be x

Starlive...have the harmony test as planned...sometimes the results come back more quickly than predicted. Yes, it is good to prepare yourself but remember there are plenty of ladies here who have had raised fluid but have not had problems. I think you will have to accept that you will have anxiety until your results come back, it is understandable... keep talking if you find it helps on these forums.

I know part of me has magnified this worry. My husband thinks this test is a huge waste of money and that if something was wrong they would have spotted it.

Just wish I could rest easy like him, envy his optimism!