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?

I just wanted to send you hugs. We lost our little girl this summer to Edwards - scans didn’t show anything and odds came back low risk but I felt that my pappA and HCG levels were too low and had the NIPT done for peace of mind - this came back 1:15 Edwards which was a ‘high risk’ result and pretty definitive even though the odds sound like there might be a chance. To give you context my downs ratio was 1:100,000,000.
Do you know your PAPPA and HCG levels?

It was confirmed to be full Edwards and not mosaic with invasive testing and we terminated the pregnancy.
It’s a really tough tough time. Honestly the waiting I found to be the worst bit in a way. The anxiety drives you crazy.

I hope you get your results back quicker than you think. Our first NIPT was the safe test and took 5 days to come back and in our current healthy pregnancy we did the panorama which was sent to the US and it came back in 7 days so I’m hopeful you won’t be waiting 2 weeks.
for days. I’m sure your baby will be absolutely fine but completely understand the fear and worry and I’ll be thinking of you today.
X

@KTD27 oh my god I'm so sorry you have just described my worst nightmare. I suppose half of me is clinging to the hope that because the ultrasounds were fine the baby might be fine but it's cases like yours that show it's not always the case.

Obviously I can't terminate as I'm nearly 30 weeks now. Just have to hope someone would have picked something up at one of the scans.

I didn't have the early testing, in Wales they only test for Down Syndrome unless you are 35 or older (I'm 34) so have no idea of any of my levels.

Jesus I'm freaking out so bad, hope the test comes back low risk as we love her so much already although I can't bring myself to buy anything knowing there is a risk of this and your story just highlights that exactly xx

Oh my love I’m sorry I didn’t mean to scare you. I have absolutely no doubt they’d have found something on your scans. No doubt at all.
Our baby was fine at scans at 12 weeks and 16 but even at 16 they queried whether they could see fingers - as Edwards babies have clenched fists. They assured me they’d have picked it up on anomaly scans at 20 weeks I was just one of those strange cases who pushed for things they didn’t think I needed until I did.
I can’t believe you’d have an Edwards baby at 30 weeks and not see anything on the scans. I just don’t accept that - the reason we said goodbye is because it’s such a horrid bloody thing for the babies and they’d know. I promise. You and baby will be fine. I know it.

No no please don't be sorry I was worried anyway. They want to do an amnio because I've got polyhydramnios and that's the only thing they have noted but because of my history of recurrent miscarriage they said it would be best to rule out Edwards Syndrome. Thing is, I know it really can be missed on ultrasound even at 20 weeks, I've read so much about it and looked on forums and know it can happen. I just hope we are lucky and the extra water is just because the baby is bigger than average (95th%).

Wishing you all the luck in the world with your pregnancy, you must be very nervous going into this one. Once you have lost your innocence with something like this it's gone forever xx

Good luck Star (for staying sane today) xx

@SleepingStandingUp thank you!!! I will most certainly need it!!! Xx

Star, I'm so frustrated at the doctor who made that remark, left you with all that worry and out of pocket, is there any chance she can be made to read this thread??

Many, many women have raised fluid in pregnancy for numerous, often mundane reasons. Some Edwards babies will have raised fluid. The main symptom for Edwards is not by any means polyhyrdramnious. The connection is extremely feeble. I'm pretty sure there's been no Edwards babies born at 95 centile either.

Have you looked at wiki?
In utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies such as head shape abnormalities. The most common intracranial anomaly is the presence of choroid plexus cysts, which are pockets of fluid on the brain. These are not problematic in themselves, but their presence may be a marker for trisomy 18.[7][8] Sometimes, excess amniotic fluid or polyhydramnios is exhibited.[5]

92% of all cases in England and Wales are diagnosed prenatally. I've know you've read up and found that some were missed on scans, but most likely those which were not diagnosed in-utero were due to women not having any scans, plenty don't have scans at all and some never even see a midwife in pregnancy.
When the baby is as developed as yours there'd be loads of things to pick up on, would probably be cheaper for you to do a private scan...

Thanks for your reply @Freshme I totally agree. Plus I know it's hard to gage when reading which ultrasounds ladies are referring to when they say it came back clear, it might have only been the 12 week. I know realistically the chances of things being good are on my side, but the seed of doubt has just grown and grown and now I just know I couldn't wait another 10 weeks without an answer.

On the plus side the test does include a private scan, although how detailed that would be is anyone's guess. Maybe it will give me a tiny bit of reassurance until the results come in. I hope so!

I measured 39 weeks at about 30 weeks. I was sent for loads of extra scans but they were never specific about what they were looking for.

It turns out dd was just a big baby (9lbs so not huge). I told them both my family and dh's have big babies!

Best wishes to you op.

Thinking of you today. Hope all goes well

Just rtft, fingers crossed for you op. x

Thanks everyone ❤️ all your kind words mean so much to me. Test isn't until 7:30. Wish I'd booked the day off Work in a way but at least I'm slightly distracted, maybe it will make the day go quicker.

Hanging around my house all day on my own wouldn't have done my mind any good!

@paddypants13 gosh I bet you were so uncomfortable, so it was just from a big baby? Did they induce you or did you need a c section? Sorry just curious xx

Just rtft,sending to get you through the day at work.Fingers crossed for you OP.

Hi Op,

Yes, she was just big! They made lots of noises about inducing me but they allowed me to go to term in the end.

I did end up being induced but that was down to meconium in my waters and no contractions at all.

Surprisingly, I wasn't hugely uncomfortable but I did look like an egg on legs! x

Eek! Getting more nervous as the day goes on, I'm not even going to find anything out tonight!

Hope you get a proper scan. I know ot wont be an anomaly scan as such but they would presumably mention and physical abnormalities so hopefully a scan of your perfect looking baby will hekp x

Fingers crossed for everything, and an easing of the anxiety so you can enjoy last few weeks.

It's done, the lady said it takes about a week. They did do a scan and it was a 3D one. The lady doing the scan said she looked fine but she wasn't looking for anomalies although nothing jumped out at her which was good.

She did measure the baby's head and it was at the bottom of the chart whereas last week it was at the top! Could it have shrunk? She did say it was hard to get the measurements but still. Not sure how I feel about that. Just seems a bit odd. Anyway at least it's done!

Keep us posted star, we're all thinking of you and your little one ❤

Will do @MissYeti thank you. It will be a long week x

Cant imagine it could shrink but position, fluid and individual error could cause a difference. Wouldn't take a huge difference to drop centiles. When is your next hospital scan?

@SleepingStandingUp hospital scan is on the 30th so will hopefully have the results well before then. Just hoping and praying now that they are good. Can't believe how much the baby looked like a baby in that scan! Made me love her even more if that's possible, they even told me she had some hair ❤️

Awwww that's so sweet 😍😍😍

I'm an absolute wreck this morning. Have been in tears at work and it's only day one. I thought I'd feel some sort of calm now it's actually done but I just feel helpless. I'm hoping it goes quick, it's manifested itself so much now that I can't manage to think positively at all today. The two witches in mg office don't make it any easier. Just because they both had straightforward pregnancies doesn't mean nobody else has the right to be worried.

Rant over. For now.