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Edwards syndrome markers(339 Posts)
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?
If anyone has been through similar with big baby/too much fluid please let me know, I'm so worried now. I wish he hadn't mentioned Edwards Syndrome but I suppose if it's a possibility I should prepare myself
Hi- in my first pregnancy, the baby was measuring big- over 95th centile scales for his head and his stomach, and I measured really big- lots of fluid. I was sent for extra scans, and no one was very good at explaining why. I got quite anxious....but, was fine. He was about 8lb in the end. Big, but not too big!
So- all the scan measurements can be way off. And my fluid settled down a bit in the end too.
What's your midwife like? Could you write down the questions you have for her for next appointment?
Or ring midwife now... don't worry over Christmas!
I’d this two. I measured 4 weeks ahead of dates . DS1 was big but it was mainly amniotic fluid. He weighted 10lbs at birth. With my next baby I had a harmony test so wasn’t worried when it happened again
I did need a c-section with forceps to get baby out as he was so high (due to fluid)
Who did the consultant mention Edwards syndrome to? You or other medics who were there? It's a silly thing to have just mentioned without any other reason than the size of the baby, of course you're worried.
I always measured big and all of my babies were fine. I know once the registrar said she thought my waters were low and ordered a scan - the withering look the midwife gave her spoke volumes! As someone else has suggested - try to speak to a midwife today.
How many weeks are you? Did you have the combined test at 12 weeks? FWIW I had too much amniotic fluid which was caused by gestational diabetes. It was called Polyhydramnios. It did resolve itself within a few weeks. I was very swollen with fluid during the pregnancy.
My son we lost in 2011 had a few “soft markers” for Edwards syndrome that they detected at his anomaly scan. (Was found he didn’t have that but did have a chromosome partial trisomy after we had an amino) anyway it “usually” affects boys more than girls, club feet, problems with heart and brain and also the kidneys. All this would / should have been picked up on your anomaly scan. I would really try not to worry.
I remember when carrying my second son I had seen the mw on the Monday and measured 28 weeks (I was 26) then on the Thursday three days later she said I was only measuring 24 weeks needed urgent scan etc etc. Baby was absolutely fine perfect size and weight for his gestation and he’s now a healthy happy three year old (he was 8lb 8oz at birth so big baby)
Please try not to worry easier said than done I know but if the anomaly scan didn’t detect abnormalities I wouldn’t be worrying too much.
Your 12 week bloods along with nuchal fold measurements also screens for downs, Edwards and pataus and gives you a risk factor. Generally you don’t hear back of low risk too.
The Dr mentioned it to us just as a possibility (not from anything he had seen) but just said we were going for a growth scan in 2 weeks. Then he did say try not to worry but of course I'm worried to bits (especially after stupidly googling it!!)
Test early on didn't say anything about Edwards syndrome so I assumed it was just low risk.
Sorry, I meant to say I'm 26+4.
Just feel so nervous about this next scan, I'm hoping it's nothing to worry about as the two scans previous showed nothing out of the ordinary.
I'm a worrier at the best of times!!
Bez9087 I'm so sorry about your son, the following pregnancy must have been such a nervous time for you, I really didn't know anything about this condition at all until yesterday xx
I had polyhydramnios when I was pregnant with dc4. He was quite big as well (7lb 2oz at 35 weeks). He doesn't have an Edwards syndrome and nobody said he might do. I thought babies who have Edwards syndrome tended to be small anyway (although the only child I know who has Edwards syndrome is my ds2's friend from preschool so I don't know much about it.)
A relative had polyhydramnios - Edwards / Downs syndrome are the worst case scenarios and so the doctor wants to prepare you for them. Chances are it’s probably nothing to worry about.
Thanks for replies everyone, I'm sure it's just worst case scenario and i'lol know more at the scan it's just that two weeks seems so far away and it's just something I hadn't really considered so it really threw me 😔
In over 50% of cases - there is no cause. Otherwise things like gestational diabetes can cause it so they might check that.
Just a point to bear in mind. I was measuring ahead (4 weeks) so had a ‘full sized bump’ but baby hadn’t dropped so breathing was challenging. Not a lot of fun chasing a toddler 😄 but on the positive side they love swimming
ellejjtiny I read too that babies with Edwards tend to be a bit on the smaller side. I'm hoping that as she is measuring a bit ahead herself that it could just be one of those things and she ends up just being slightly larger and nothing more sinister.
It's just knocked me for six, gonna have to try to stop thinking about it but this is the furthest I've ever got after previous losses and I was just about starting to feel more confident now I can feel her move. I feel like I'm back to worrying and constant googling now
It might be worth seeing if you can still have the harmony test? That's a DNA test that looks for Edwards, Patau and Downs, and it's 99% accurate. You normally have it at 11 weeks or so, but a quick call to foetal medical centre or something would tell you if you can still have it. That would put your mind at rest.
I find it hard to believe that something so major would have been missed on scans, but it can happen. Fingers crossed you're in the vast majority who are fine.
Did they mention gestational diabetes at all? Mine was picked up at 26 weeks for exactly those reasons - high fluid and a big baby!
Lots of luck OP.
I had a TFMR in September this year due to Edwards. It was found when we had a Harmony test and I sadly terminated the pregnancy at 17 weeks.
She was always measuring small and hardly moved at all at all my scans. I agree the soft markers they talked of don't sound consistent with Edwards.
speepfreezone oh I'm so sorry. I know this is a very sensitive subject and I appreciate you using your knowledge to give me a bit of advice.
I just honestly feel lost. From what I can gather the woman at the 20 week scan was happy and she ever spent a bit of time training another midwife so I'm sure she would have said something if it had been picked up.
I think the only reason she mentioned it was because the fluid was high. It's going to be a very nervous two week wait x
I don't remember anyone saying that the fluid was high. I think the head circumference was abnormal but I can't remember if it was abnormally small or large. I think small. I never got to the 20 week scan but the thing that stood out for me was the baby hardly moved. Is your baby moving in the scans? Doing back flips etc ?
sleepfreezone yes she was moving lots in the scan, she looked perfect. I know it's pricey but maybe I'll have the harmony scan. I don't know how accurate they are or when the results would come back but I just can't seem to shake this, I'm already nearly 27 weeks and I suppose if she did have something wrong it would be too late to do anything but I suppose I could at least prepare myself xx
I have to admit I don't know if there's a cut off point with the Harmony test but I do know they are incredibly accurate.
Starlive22 - Are you based in England? If you're not and are in Wales, they don't test for Edwards in your combined screening so Harmony may be something to consider to rule it out if you're worried!
Kellaree yes I'm in Wales! Maybe that's why it didn't say anything before, I literally don't ever recall being told about this other than yesterday at the hospital. I think they only tested me for Down's syndrome.
Think I'll look into this harmony test, if only to give myself (hopefully) peace of mind xx
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