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?

@SleepFreeZone hope that I didn't offend you in any way. In a way I understand you a little. We had so many losses people had started to ask us if it was worth trying. Had we considered adopting etc. Now we are 26 weeks! Still can't believe it's real!

So so pleased to hear about your DS2, I guess it's worth all the worrying!!

Just keeping my fingers crossed with this one, I worry myself mad but hoping we finally get to be a little family.

I think that's why when she flagged up Edwards Syndrome I immediately thought the worst. Because when the worst has happened time and again it's hard to be so optimistic x

I had polyhydramnious with my first, I had eight litres of fluid removed before she was born, she was high risk for Down syndrome and had duodenal artresia, both very common with downs children, she doesn’t have anything wrong with her at all and is now 12 and a typical preteen no Down’s syndrome or anything else, and last year our youngest had open heart surgery, again very common in downs children, again there is nothing wrong with her, a typical toddler neither of my dds have any further problems, no chromosome problems, both nt , so sometimes all of the warnings and tests do have a positive ending. All of what we have been through has been incredible stressful and hard but so very worth it. I hope you get positive news soon.

I didn't have the harmony test today. They said as it was £450 plus as it was Christmas the results wouldn't come back for 4 weeks I might as well just wait and see what the hospital say, and if the doctor says to get the test done then I will. Just have to hope as it's rare it was one of those throwaway comments that has stuck with me

OP, I had 5dc and measured ahead with all of them and had massive polyhydroamnios with 4. All were fine, all big babies, but overall big babies usually have better outcomes.

That doctor is unprofessional to say the least. Your worry is spoiling your pregnancy and your baby is not benefitting from your stress. Put it out of your mind x

Thanks Freshme it's a relief to hear that all four had it and were healthy! I'm not blaming the doctor, I'm sure she had her reasons, I just keep thinking as I wasn't tested for it, that something might have been missed now.

Edwards Syndrome sounds very rare but when you look at forums, the concentrated amount of women with personal experiences seems to make it seem much more common.

Just as a quick update, my midwife confirmed my NHS Trust do not test for Edwards or Pataus until you are 35 (I'm 34) so just wondering, what do they look for in the growth scan? Could they see anything that might make them suspect Edwards Syndrome? Like I said they haven't said there are any specific problems apart from the fluid being too high. Today at midwife I'm measuring a month ahead.

This has been a terrible Christmas, I've worried and cried all over the festivities, feel like everything seemed great and now they have mentioned this I just fear the worst 😥😥😥

My midwife said typically babies with chromosome abnormalities tend to be smaller as opposed to bigger, but not always the doctors words still ring in my ears.

Well tomorrow is Finally the scan. Does anyone know what exactly they look for in these scans? Would they be able to defect this Edwards syndrome they have told me about?

My midwife measured me as 4 weeks ahead now and I'm starting to feel sick with worry. I've hardly slept at all these last few nights worrying about chromosome problems 😥 had my diabetes test yesterday though so at least I should have the results for that.

I know nobody seems to be reading this anymore but I'll update anyway if I know anything

I have no experience of this, but wishing you best of luck for the scan tomorrow, and I hope your fears turn out to be groundless.

Oh hon i am reading. No practical advice but i am keeping you in my thoughts and prayers and please update if you can. I will be looking out for it ! I think waiting is the hardest thing and at least there is an end to that torture but try to hold on to good thoughts .
Hoping and praying for good news for you xxxx

I know the feeling with regards to growth scans. I had on before Christmas and growth had dropped dramatically. They like to leave a gap to see how baby develops but it's been a very long couple of weeks!

Do let us know how tomorrow goes. I really feel for you

I had polyhydramnious with ds2 and he was very big (10lb at birth). He is absolutely fine 19 years on and currently at uni. Still very tall though (6 ft 2).

I'm sorry you are so worried. Most be awful after what you've already been through.

Remember that measurements done by a midwife with a tape measure aren't totally accurate. I had extra growth scans with both my children. One measured big for the dates and the other small... But both were absolutely fine - 8lb and 8lb6, so neither enormous nor tiny!

Good luck for tomorrow, will be thinking of you

Thank you so much for the hand hold everyone, I really need it. I feel so silly now for thinking after 12 weeks it's all plain sailing. I haven't bought a single thing for the baby as I'm just worried sick and everyone keeps asking if we are all set or that I'm ready to drop. I'm still 12 weeks away but it's hard to say anything so just smile and nod politely and keep hoping for it not being a birth defect. Ugh glad Xmas is over, watching smiling happy families in films just makes me feel like crying

@Prusik - very long couple of weeks exactly, hope all goes well with you too.

I really would try not to worry (easier said than done I know). I had polyhydramnios too, was measuring large and growth scans showed that baby appeared large. No one ever mentioned Edwards syndrome to me. They couldn’t find any abnormalities on the scans and the only thing consultant mentioned was that they requested to pass a tube down into baby’s stomach after birth to check for any blockages. Baby was born at 40+5 by c section weighing 10lb 2oz and was absolutely fine.

Thanks @Chocarocker hoping mine is a big healthy baby like yours. It just seems so worrying, I naively assumes the worrying wasn't so bad this far in...crikey no it's a never ending worry! X

Thinking of you xxx

Hope your scan goes well tomorrow! By what pps have said it doesn't look like you have much to worry about but fx for you anyway!
Curious that your midwife said the nhs doesn't test for Edwards and pataus - I had the option to be screened for these as part of the combined test at 12 weeks.
Either way, best of luck for tomorrow!!

Good luck tomorrow x

Good luck tomorrow xx

Thinking of you, all the very best.

OP all the babies I know with Edwards measured small (my son has mosaic trisomy 18) . There are some medical issues that are linked with excess fluid etc. but excess fluid can just be excess fluid and excess fluid can make babies look bigger on scans than what they are.

Markers for Edwards would be club foot, heart defects, cysts in the brain etc. All of those are likely to have been picked up at your anomaly scan

Hope all goes well for you tomorrow. I was the same as you, naively thought there would come a time the worrying would cease...have since found out this doesn’t happen! x

Wishing you well for tonorrow