Possible Edwards baby - test or not to test?

[SilverLining]

Have just found out that I have a slightly raised risk of having a baby with Edwards syndrome. Apart from being totally shocked and devestated not really sure what to do. We are offered a CVS next week or wait till 16 weeks for the aminio - not sure what to do. I work in a neonatal unit and my boss (Professor no less!) thinks its such a small risk that I should do nothing but not sure if I can last 6 months not knowing. Never thought I was a control freak but now realise that I am! Any one with any experience of this? I'm 31 and 13 weeks on Saturday - 2nd pregnancy. My nucal fold was perfect apparently and the baby was moving and doing everything it should - could see the brain hemispheres and everything! One blood test was perfect but the other one was very low and thats whats done it apparently! Thanks in advance - SL x

[jessicasmummy]

its up to you at the end of the day, personally i dont like tests during pregnancy and wouldnt have any - i refused all blood tests too because i thought "whatever will be will be" and it wouldnt make me love the baby any less. if u need to put your mind at rest and know one way or another, then do it. i can see peoples reasons for doing it, but i personally wouldnt. hth

[RTKangaMummy]

could you have another blood test to see if there was something wrong with last one?

[SilverLining]

Thanks - understand where you are coming from and have friends who have done exactly the same. However in my line of work I sometimes think I know too much so I went down this route and as I am now halfway down it I am leaning towards finding out the whole facts and then I can deal with them the best way that I possibly can. I am not saying I won't love my baby and hope that didn't come across as such.

[SilverLining]

Thanks RT and Pamina - think I am clutching at straws that there is a mistake with the blood. Have had long chat with my boss this morning and he has stressed the smallness of the risk but think I am leaning to the CVS next week just to know and then we can think what we want to do and come to terms etc

Just feel terribly shell shocked at the moment - didn't do any of this with DD so all a bit foreign terriotory for me! Will do a search as you suggest - good idea!

Thanks again SL x

[Twiglett]

if you knew you were having a baby with ES would you abort?

if you wouldn't then there's no point testing

if you would then you should test

(I have no idea what edwards syndrome is)

[Gwenick]

I agree with twiglett - I didn't have any of the tests done with either pg (came back to the UK too late to have them with DS1 anyhow) as I knew that whatever happened I wouldn't abort the baby.

[RTKangaMummy]

SL

I am probably being dim

But how can one blood test be perfect and then 2nd one say there is a prob.?

Was there a large time difference between them?

[anchovies]

I think Twiglett is completely right, thats exactly what I based my decision on. Had no tests as knew I wouldn't act on them anyway so wasn't worth the risk.

[Marina]

Edwards is usually incompatible with life outside the womb though, Twiglett - it is one of the commonest chromosomal abnormalities after Downs Syndrome, and far more serious as a confirmed diagnosis than DS.
I think in your position I'd want the possibility ruled out SilverLining. A possible Edwards diagnosis for me would be one of the very few scenarios to make me reconsider my choices on invasive antenatal screening. A relative had a stillborn term Edwards daughter before the options for screening were widely available.
So sorry to hear of your dilemma. Bundle might be doing half-term and not around this week, so maybe bump this next week?

[anchovies]

So can the tests definitely confirm it either way? Blimey I've never even heard of it before.

[RTKangaMummy]

Oh my goodness

sorry didn't realise it was so serious

sorry

sending cyberhugs {{{{{{{{{}}}}}}}}}

[Twiglett]

I think in your position I'd go for the CVS to rule out the possibility. If it is such a severe syndrome I think the longer you wait the harder it will become

{{{{{{hugs}}}}}}}

[Marina]

Invasive screening can Anchovies (ie CVS or amnio depending on gestation).
"Soft markers" (potential physical indications of the syndrome such as skull abnormalities) seen at scans can also suggest referral for conclusive diagnosis either way.
Edwards is almost always fatal before or shortly after birth. I think the baby in Liverpool who died recently after court cases surrounding his care was a very rare example of a child who survived beyond the first few days.

[Blu]

Silverlining - so sorry you are going through this.

At my 20 week scan there was much talk of soft markers for other potentially fatal / non-viable syndromes (not Edwardes AFAIK), and based on that, I did have amnio, with a thankfully re-assuring result.

What I came through that situation thinking was that if I was doing it all again, I would have CVS, not wait until later. The emotional impact of a more advanced pregnancy, a baby you have felt moving, is, I feel, a strong one.

And I think it's more complex than 'would you abort', too. I found it hugely helpful to know in advance that my baby would have physical differences. I was able to do research, find the relevant support group, and do all the thinking I had to do. By the time my baby was born, the fact that he had bones missing had become 'ordinary' in my mind, and all I had to do was love him and get to know him. Much better than having his condition announced in a packed unprivate post-natal ward by the insensitive brute of a peadiatrician that was on duty!

In our case, the possibilities were Down's and two other trisomies - both of which were fatal / non-viable. Our personal decision would have been to terminated for the non-viable trisomies, but certainly not for Down's or DS's physical difference.

Silverlining - I do know that even the slightest statistical risk feels like a total emotional one - and I really feel for you.

[Marina]

Just checked the BBC website and yes he did have Edwards - and a wonderful, brave and loving mum.

[anchovies]

I'm so sorry I didn't realise how serious it is either I think if I were you I would have the CVS because as you say 6 months of worry will be awful.

Will be thinking about you xx

[SilverLining]

Thanks everyone. I was tested for 2 different blood things RT, you aren't being dim!

I know this is a very personal thing and some people don't get tested in any situation which is that persons individual opinion but I have gone down this route for my own reasons so have to deal with the consequences.

Marina you are right about the baby in LIverpool who went to court - he was a very rare case of surviving Edwards.

My current feeling is that I just want to know what I have got in there! and as Twiglett says, the longer this goes on the worse it will become. Besides don't think I can last 6 months playing "what if?" in my head.

Off to search the archives now and try and stop sniffling into the keyboard .....

[SilverLining]

Blu - just seen your message - thanks so much for your reassuring words, so nice to hear from someone who has been there is some way.

You've set me off crying again! but thanks again

SL x

[Marina]

We're all thinking of you. Bundle especially is your woman when she spots this thread.
Sending you lots of love and positive vibes XXX

[Blu]

Is your boss concerned about the risks attached to invasive testing? I had understood that rates of success/risk vary for different units, and individual testers. Get your boss to get you a test by the most experienced person in the country!
(wonder if you work in the Harris birthright Trust??? That's where we went! But you don't have to answer that.)

I know, I know - the statistics may be tiny - but they are huge to live with - and if the worst happens, in the case of edwardes, it would be devastating.

[NotQuiteCockney]

Have you considered going to the Fetal Medicine Centre or one of the other specialised (private) units? Could a better scan give more accurate results, or a different blood test?

Otherwise, I'd do as Blu suggests, make sure you get the test done at the best centre, if you need the test to be reassured.

[throckenholt]

Not the news you wanted to hear .

What are the risks of having the syndrome compared the risk of miscarriage with the cvs and amnio ? I have a vague idea that amnio is slightly safer than cvs.

I don't know about edwards syndrome - is it a case of living with disability or that the baby will definitely not survive outside the womb ? Whichever - you have to think about what you would do in the given circumstances. If it comes down to termination then that is probably slightly easier if you do it earlier - if only because it doesn't proling things.

I think, unless the odds are vanishingly small I would opt for the amnio.

[HappyMumof2]

Message withdrawn

[Tallbird]

Silverlining - I went through this myself in October last year - though my risk was picked up by a high risk result from the nuchal scan (1 in 11), and I didn't have any blood tests. We decided immediately to go for the CVS (wanted a definite answer rather than statistics, and would far rather know earlier than having to wait for an amnio) - and am very glad we did, as the CVS gave a positive result for Edwards. From everything I read about the syndrome, it is extremely rare for babies to survive for more than a few days if at all, so for us, the decision to terminate came relatively easily (as easily as such an awful decision can come...)
Obviously, the thing to be aware of with invasive tests such as CVA & amnio is the risk of miscarriage, so it can be a bit of a case of weighing up statistics on the risks of each option.
When it comes down to it, decisions about testing are a really personal thing, and I think that the most important thing is to what is right for you.
On a more positive note, I got pregnant again first attempt (currently 11.5 weeks) - and am currently very nervous about nuchal scan next week.
Wish you all the best.