had amnio yesterday - possible Edwards' syndrome, feeling ill with fear, please help

[kitkat9]

Hi

Went for a scan yesterday (I'm 17 + 4) at outr American hospital. Because I'm 35 I was routinely offered genetic counselling, followed by a very detailed scan to determine any risks - the scan was both 3d and 4d and I was quite enjoying seeing our wee boy (knew it was a boy!) in such detail for the first time. The doctor said everything looked great - EXCEPT he saw something on the brain that he said could indicate Edwards'.

He was at pains to point out that there were no other markers, all the other measurements were fine - he ruled out Downs' and Patau (sp?) which was very reassuring, but obviously with Edwards' we are looking at something 'not compatible with life' (Dr's words).

He gave us a 1:127 chance of it being Edwards. Before I new it I was having the amnio done and now I'm waiting. I had terrible dreams all night and woke up actually believeing that I'd had a termination.

Does anyone have any experience of this? Please hel, I feel like I'm going nuts here.

I have no experience, just couldn't read and run. Wishing you all the luck in the world x

I also didn't want to read and run although I am not sure I have any useful wisdom to share. How long do you have to wait for the amnio results?

Thinking of you, how scary. xxx

Sounds terrifying. 1 in 127 is less than a 1% chance, but that doesn't stop you worrying. How long do you have to wait for the results?

My sister had Edwards - ask if it's a mosiac, which means it isn't as severe.

We'll get a result on Thursday, hopefully. Don't know how I'm going to wait! Part of me thinks that come Thursday all will be well again, then I realise that I could actually be preparing to terminate.

Thanks for your replies.

You poor, poor thing. I was recently told that ds1 could have cancer so I know that utter fear you are feeling.

When will you get the test results? In the meantime, where are you today? Have you got people around you and are you keeping busy? Big hug to you xx

oh my God beansprout, that's horrendous. When will you know?

I'm just at home, a million miles from family, with my 2 dc's who are, as usual, causing havoc...

You poor thing. Me and dh have close friends who chose to have a late termination due to their ds having Edwards. If you do get to that point (and I hope you don't) I can find out a bit more from them. Hope you get the opposite result though.

They think he is ok, he is still being checked, but we are ok. Anyway, this is about you!!

The odds are very long, keep telling yourself that and you just have to keep your head down, keep busy and do whatever you need to do to get through the next couple of days. Keep talking to us if it helps!!

You poor thing I know exactly how you feel, we had a 1:25 of Downs and 1:30 of Edwards at our 12 week scan, and had a CVS, so I know very well how horrendous the waiting is. There's nothing that can really help get you through those hours and days except just trying to be as normal as possible.

Do remember that 1:127 is a tiny tiny chance and that Edwards' is very rare, and the odds are very in your favour. Put it this way, you would never bet money on a chance that small!

Was your nuchal fold measurement in the normal range?

Do you have any other children?

Sending you all the best wishes in the world - really hope Thursday brings you good news.

thank you, thank you...

the nuchal fold ws fine, nasal bone fine - the Dr was very clear that there were no other markers at all, and he was 99% that everything would be fine. I know the odds are in our favour, but I can't help worrying. I'm trying really hard to be positive, honestly!

It is really difficult - try and throw yourself into something, whether it's your work or cleaning the house or gardening. Anything to keep your mind busy!

I was on the phone to the midwives twenty times the morning my results were due, they were very patient but I totally remember the feeling that my head might burst if I didn't hear soon!

Good Luck

I hope all is okay for you kitkat9, I am afraid we can know too much with all the technology nowadays, that is great is some respects but if all is well, you will be spending the time between now and getting the results, panic stricken.

Have no experience of this but just want to wish you well.

As everyone has said, it is less than a 1% chance, you should be fine.

I had this with my son. We hads declined all diagnostic tests but the markers were obvious. We decided straight away to know the sex and later discovered Edward's is more common in girls.

Children don't always die at birth or soon after with Edward's syndrome.

Maybe your doctor needs to see the 9 year old girls who has Edward's syndrome.

It makes me so cross that they make such scarey statements to parents.

I suiggest you ring the ante natal results helpline. They were fabulous when I rang and I am sure they will help you too.

sweetie, I'm really sorry you're going through this.

I had a similar experience when I was pregnant with dd2, 5 years ago. I had a much higher risk of Edwards - can't remember the actual numbers but it was higher than I should have had for my age (then 38).

My risk was assessed from my bloods (quadruple test) where one of the hormones was at a level that worried them - so I had an amnio too (although I had a bit more time to think it through than you - I don't know whether that's good or bad ).

The consultant reassured me throughout the scan used to guide her to do the amnio that dd had "beautiful hands and feet" - crossed digits can also be a marker. But I still didn't feel safe until I got the results through (I didn't trust even the preliminary ones - which are said to be 85% accurate).

As people have said, it's incredibly rare - and there are families living with Edwards - (it is not always incompatible with life from what others have told me - though I know a family who lost a baby to Edwards syndrome).

But - I would have terminated a pregnancy, if Edwards had been diagnosed. Whatever you decide, once the results are in, there will be support here for you.

Kitkat 9, I also had amnio as my sister had Edwards.

It's a scary time from having amnio to when you get results. Not sure how your results are delivered, but I've had it at 2 different hospitals and one hospital said they could call if there was a problem, so of course every time the phone rang, it was major panic. The other hospital said they would call either way, which is more humane.

If Edwards is diagnosed, obviously it is a decision whether to terminate or not, however would suggest that you find out how severe it is.

ilovemydog
what kind of effect does the Edwards have on your sister's life?

ibundle - am somewhat reluctant to be totally honest as the OP is awaiting tests, however suppose it's information that's already available.

My sister had a mosiac of Edwards, and lived until she was 6 years old. This was over 20 years ago.

She never walked and never talked. She could express emotion, joy, happiness, recognize people she loved and clapped her hands a lot!

I wonder if she was born now, whether she would have received better specialist care? I don't know

sorry ilovemydog, hadn't meant to pry...and hadn't realised she'd died (should pay more attention..). I'm genuinely interested, hope I haven't upset you or kitkat9 x

Yes, we had this with DS2, he had two "soft markers" for Edwards - one was a choroid plexus cyst, which sounds like what your baby has, and the other was talipes (clubfeet).

Honestly, if your baby just has the one soft marker, then I would try not to worry - it is overwhelmingly likely that everything will be fine.

I do know how you are feeling though and am dreadfully sorry that you have this worry.

Btw, DS2 didn't have Edwards - he's 7 now.

Gosh how scary.

However, Edward's isn't always incompatible with life, although for babies born with full (non-mosaic) Edward's the chances of living through infancy are low.

But babies with Edwards usually have lots of features that can be picked up on a scan.
Was it a choroid plexus cyst your radiographer saw? These can indicate Edwards but usually mean nothing at all. I think in the UK some places don't pay that much attention to them these days (although I could be wrong about that). The fact that he didn't see anything else would make me very reassured to be honest.

yes, it was a CPC he saw - or the beginnings of one. Bearing in mind that we're in the States and the doctors are terrified of being sued, I am wondering if they're being a bit over cautious.

I'm feeling a bit calmer now,have had a nap. It's still in the back of my mind constantly but there's nothing more to do except wait!

I really appreciate all of you taking the time to reply, it means the world. Good old mumsnet.

Ilovemydog, I'm sorry to hear about you losing your sister to this syndrome - although I am happy to hear that she had a good quality of life.

My son had CPC and a soft marker on the brain and all had gone at the next scan.

I would suggest a scan in a week and see how that is.

I wouldn't recommend an amnio.

If my son had have had Edwards Syndrome we would have had the child but we are all living different lives and have to make the right choice for us.

Have you got another appointment booked?