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?

The internet seems to say it's fine any time after about 11 weeks. Also it says 2 weeks for results but mine only took about 5 days. They rang me to confirm low risk for all 3.

Here is where I went but lots of places do it now: fetalmedicine.com/harmony-test

I'd ask about a glucose tolerance test too.

Hopefully both will come back totally clear. 🤞🏻

It's supposed to be over 99% accurate.

So sorry for your loss sleep. Not moving much as a symptom would fit in with how my ds's friend was.

Op, I think polyhydramnios can be caused by something but is more likely for no reason. My son had a cleft palate which caused the polyhydramnios but I talked to lots of people who had experienced it and most people had it for no reason and the next common thing was gestational diabetes.

Thank you so, so much everyone for all your help. Got myself booked tomorrow for the Harmony test, bit pricey at £400 just before Xmas but that's what credit cards are for! I just hope and prey the results some back soon and are what I was hoping for.

Fingers crossed and double crossed 🤞

I lost my second daughter to Edwards after a tfmr at 21 weeks. She always measured very small and didn’t move much.

I’d be very surprised if nothing showed on 12 week combined plus your anomaly. I’m by no means an expert but if say if the only markers are measuring big with extra fluid I’d say Edwards is very unlikely. It may be the worst possible outcome and the reason they are using to justify another growth scan but I reckon you are probably fine.

Btw Can I suggest a call to ARC. They are a brilliant charity and very specialised in prenatal testing and diagnosis. They will have much more experience and specialism than we have here

-kittyandteal I'm so sorry, I don't really know what to say it must have been heartbreaking. I just want peace of mind.

I'll find them out and give them a call in the morning.

I'm sure I'm just imagining the worst, it took us a long time to get here, I'd started to think we would never have any children. This has just thrown me a bit as I was just starting to feel a bit better. I've worried over everything, so hopefully this test will give me the peace of mind I want (although to be honest I thought I had peace of mind about this, but I'm not sure they test for it where I am as a pp mentioned) x

for those who had bad news, it's so sad.

OP I do think your dr has scared you unnecessarily but having the harmony will put your mind at rest I hope. Do ask about the GD test too. Good luck!

Such sad stories on here. What strength you all have.

OP - I was measuring very big and had off the chart polyhydramnios with DS1.

I got really worried and worked myself right up before my next consultant appointment.

She said the most immediate concern was ruling out GD which had been done. Screening tests showed low risk. She said that a physiologically normal looking fetus on ultrasound with polyhydramnios but no GD was not something she'd worry about and big babies = lots of fluid.

Sure enough I had a massive baby, loads of water but he's totally normal and thrived from day 1.

If your scans do not show reason for concern, get GD ruled out and then try to relax a little.

Much luck.

OP I had polyhydramnios with my 3rd. It was picked up on a scan at about the stage you are now. After that i had many repeat scans and the glucose test over and over. I wasnt diabetic and my waters never lessened. He was just a big baby. 9lbs 12 born a week early and at my planned c section there were lots of wisecracks about how they wish they'd worn wetsuits as there was that much liquid.
He was absolutely fine. And I felt so bloody light once he was out!

Must say it's quite reassuring to hear of others with too much fluid and healthy babies. Wish I hadn't googled it tbh, it was bad enough the Dr mentioned it, the googling just made it a million times worse 😔

I've got a GD test on New Year's Eve and from what I've read this can be a common reason too so it might be something fixable instead of something awful. Really hope it's nothing.

I'm hoping at the growth scan they will look for any problems with the baby

Lofari I'd forgotten about that. My waters broke before my c-section and I was begging them to get on with it, it was like a waterfall coming out of my fanjo!

I would say that extra fluid and slightly large for dates are pretty poor markers for Edward syndrome on their own and I am quite surprised it was mentioned as a possible cause.
If you do consider the harmony test, as suggested by others, be sure to ask what their detection rate is specifically for Edwards syndrome as it is usually lower than the 99% quoted for Down's syndrome. Current evidence suggests about 90%

Just looking now Blurbirdsky and you ate absolutely Right, it's about 91% which is good, but I don't really want want to end up with a false positive, more stressed out than I am at the moment and then be faced with the amino decision. The hospital haven't specifically asked me to get the Harmony test, just said to come back in 2 weeks to see what happens at that scan.

What to do what to do, ugh so much uncertainty literally overnight felt really excited this last weekend now I feel just completely terrified

@Starlive22 I would definitely give the hospital a call and ask if you can speak with someone because you are worried. Maybe ask if you can speak to the antenatal screening midwife. I am sure they wouldn't want you to be at home worrying.

Honestly love, my consultant was so unconcerned about the polyhydramnios. The anomaly scan being normal is a great relief and I absolutely understand the anxiety but with a normal but large fetus you have fantastic odds of a lovely big healthy baby. Definitely try to speak to the screening midwife if it will help - they'll see this a lot.

Thank you moanyoldcow- lovely reply thank you very much.

I asked my midwife about the screening, she said my NHS trust don't test for Edwards or Patau syndrome as they are so rare.

I just feel panicked now as it's not something I had really considered.

The clinic who do the Harmony test said as it's Xmas the results could take up to 4 weeks. Think I will drive myself mad! I will just wait for the scan and see what the Dr says, if they recommend I get some screening then I will, but I'm just going to have to try not to worry until then.

They say it's very rare but lots of people seem to know much more about it than me, how could I have missed this when it seems such an awful disease, now I've googled it l, it seems not as rare as my midwife is making out

Remember that when you post on here it's a microcosm - think about the number of people posting - only a few have experience with Tri18 but when the few that have post it feels very common.

For Tri18 the fetus is usually small, has a smaller head and often has facial abnormalities and clenched fists. These are all things they'd see on the anomaly scan.

My consultant said that a big baby is rarely a baby with difficulties or one that signifies problems, the main exception being GD. Far more often a smaller baby is one to investigate further but size is far from a reliable marker from anything.

I know it will be hard to wait for the scan but I'm sure it will put your mind a rest. I was so preoccupied when I was diagnosed with Polyhydramnios last pregnancy and the only real issue was that I had more stretch marks than ideal because my belly stretched so much!

Some doctors/midwives really don't understand the anxiety surrounding their offhand remarks and I think if they knew the effect they can have they'd rethink how they impart information.

Edwards is not one of things we think about in this situation.
You should have had tests for toxoplasmosis and CMV and a diabetes test arranged ASAP.
You should also have had someone specifically look at the stomach and lips on the scan.
Don’t waste money on a harmony test. Edwards does not cause big babies and polyhydramnios.
Best wishes (from a consultant obstetrician)

@Nan0second thank you so much for your reply!

Sorry to sound ignorant but what is a CMV test? Got GD test booked already for 31st so glad about that!

You've really put my mind at rest over this, thank you.

I totally panicked and when I thought I hadn't had the screening test it panicked me even more. Thank you for talking me down a bit.

So sorry this has happened to you, and over Christmas too. The reasoning (from big baby to Edward’s syndrome) makes no sense. Was it someone very junior? I would call the labour ward and say that you’re very worried and ask for an appointment with a consultant asap. You certainly shouldn’t have had to pay all that money for a Harmony test at this stage.

It’s massively unlikely that the baby has Edward’s syndrome, both because it is very rare and because of gender/ fact no markers have been detected. But it’s really common to have big babies and pretty common to have polyhydramnios. (I think they often go together — at least, they have for me.) What is the reasoning behind suggesting a rare syndrome on basis of common symptoms?! It’s also very thoughtless and disturbing care. I would complain about this doctor.

PS If the doctor had been seriously worried, they would have suggested an amnio so everyone would know for sure. If you weren’t offered this then I think either that the person didn’t have the capacity to do that (maybe someone in training), or it was a silly throwaway remark. They certainly shouldn’t have left you paying for the Harmony test and unless the money isn’t a concern I would go back to the hospital first.

Hopsalong she looks perfect from the scans. Even had one of those 3d type ones and she nobody mentioned a thing. Maybe they just mentioned it to prepare me but it stuck out for me as it was something I hadn't really heard much about, and when I googled it I nearly had a heart attack.

The Dr was very young, so I assume more junior, and she was absolutely lovely but it really startled me. I assume they have to tell you all the worst case scenarios but it just took me by surprise.

I took pp advice and called the labour ward. The midwife just said sometimes too much fluid can indicate a chromosome problem but not always so try not to worry and I'll know more after the scan.

I just want to make a comment regarding other people thinking those of us who have gone through a devastating loss through TFMR or similar, as being brave or strong. We are none of those things, we are normal people who have had a terribly shit situation foisted on us and we've had to navigate our way through it.

I'm not offended by being perceived as strong, it's just that I'm not strong at all, I cry all the time. It's just bad luck and age that has seen me miscarriage four times and two of those losses were chromosome issues. If I had some bloody sense i would save myself the heart ache but if I was sensible I wouldn't have had DS2 at 40 who is perfect ❤️

OP the Harmony test will definitely set your mind at rest I'm sure. I have everything crossed for you. Try and enjoy your pregnancy in the mean time xxx