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Triple test 1:7, CVS tomorrow

(64 Posts)
peanuthead Wed 26-Aug-09 09:59:49

Hi
Had my 12 week scan yesterday and the NF was 7mm - which is huge. We were given a risk factor of 1:3 and got bloods today which put it down to 1:7 for the two other trisomy's and 1:2 for Down's. They were very bleak - the mw said there was little chance of survival in utero anyway with a fold that thick.

I'm 41 and the worst of it is we had a failed IVF in April where we were told I would be unable to conceive with my own eggs as they were so old and knackered and had started the donor process when I had a freak natural pregnancy. So this is really our last chance; we can't just go away and start trying again.

I'm angry this has happened as it's a whole heap of misery for no reason - we were due to be off to have donor ivf next month and god knows when we'll be up to it now.

Worried about the risk of miscarriage being so high with CVS but can't face going beyond 14weeks with the likelihood of having to terminate as it would have to be a full labour then.

Don';t know what I'm asking really, just if anyone out there has been in a smiliar position - good stories and bad please.

Cantdothisagain Wed 26-Aug-09 10:14:05

Hi Peanuthead

I am really sorry you had the horrible scan. I can imagine how you feel as I have been there too. It is horrid, horrid, horrid.

I had a nuchal fold of over 8mm at 12 weeks last year. Given risk of 1:2. Returned next day for CVS: nuchal fold was over 10mm. Baby submerged in fluid, literally, in stomach etc. My story ends badly: my baby had a condition incompatible with life and we terminated. It wasn't Down's.

OK that was a bad story, but when I googled and searched Mnet of other people with high nuchal folds and risk factors - there were some amazingly positive outcomes. It really isn't a given that this is all over now. And you need to decide what you will do if you find out there is a chromosomal abnormality. Some are worse than others.

Above all, I just want to say I empathize with you and I really hope the CVS, if you have it, comes back with good news. You deserve it! and there are good stories out there, even with such high nuchal folds. Take a deep breath, and good luck.

TheProfiteroleThief Wed 26-Aug-09 10:17:34

So sorry for your situation. I cannot speak for myself, but my friend was given 1:3 chances of DS for her pregnancy and she was one of the 2:3.

However things go, I do hope you have all the support you need. Wishing you best

liahgen Wed 26-Aug-09 10:18:36

peanut I have no personal experience so perhaps I won't be that helpful, and I apologise, I wouldn't meant ot offend anyone but do youhave other dc's?

Would a DS child be that bad if this were the case.?

Obviously if the baby has other conditions, ( I remember your thread cdta) then it's a different story but DS children can live very full lives can't they

Apologies if this upsets anyone. That's not the intention.

peanuthead Wed 26-Aug-09 10:25:12

No DS wouldn't be a problem. We refused the cvs first of all as we said it was something we'd just deal with. However the MW painted such a bleak picture - she said with such a thick fold it was unlikely to be uncomplicated Downs, would probably ahve major cardiac issues etc And it was the other conditions that clinched it.

TBH I don't have the courage to carry a child to term that's only going to survive a few hours.

If it does turn out to be Down's rather than any other Trisomy then I'm not sure we'll terminate; that'll be a whole different thread to look forward to....

Cantdothisagain Wed 26-Aug-09 10:33:23

Hi Peanuthead

Just back to offer more support. I have terminated twice, once at 13 weeks and once at 20 weeks, both for conditions incompatible with life. The first chromosomal, the second developmental. It is very very tough.

I agree the CVS is a good idea - high nuchal fold is not necessarily a sign of DS, and can indicate something worse - or can be totally okay, and the fold can decrease. You need to know, though.

Lots of hugs.

peanuthead Wed 26-Aug-09 14:34:45

It's the something worse I can't cope with. They said Down's was the least of it with that fold.

Cantdothisagain - can't imagine how awful - and what bad luck - to ahve to do twice. Although not sure how we're going to cope with the ivf rollercoaster again on top of this...

Cantdothisagain Thu 27-Aug-09 13:00:10

Hi Peanuthead,

good luck with the CVS. Remember it may all be okay! Let us know. I am thinking of you.

saintlydamemrsturnip Thu 27-Aug-09 13:09:02

Very high nuchal fold can indicate things like Turner's Syndrome which is definitely not a worst case scenario. LD's if present usually mild. I think the midwife has been a bit hasty dishing out the worse case scenario - because with screening she really doesn't know. And Turner's is a whole different kettle of fish to the story she's presented to you. The CVS will of course tell you what you are dealing with but remember no-one has a crystal ball, so anything they say is just guesswork. Even with high screening results you could still be carrying a baby with nothing wrong with them at all (I've met several!)

Good luck. Everything crossed for you.

TheDMshouldbeRivened Thu 27-Aug-09 13:11:40

<<<hugs>>>>

peanut08 Thu 27-Aug-09 14:13:55

Just wanted to say good luck with the CVS and to let you know my DS was diagnosed with down's prenatally after a high nuchal result.

The medical profession can paint a very bleak picture especially concerning heart defects but I was told that they wouldn't be able to tell until at least 18 weeks if there was a heart problem as it was to small to scan in detail until then.
He did turn out to have a serious cardiac defect but it was one that could be corrected after birth and once fixed would require no further surgery. A year on and he is perfect. Hoping everything turns out well for you and your LO.

peanut08 Thu 27-Aug-09 14:20:25

Sorry that first line didn't sound very positive considering what your going through.
I Just wanted to point out that if it was DS and you did want to continue the pregnancy a heart defect isn't the end of the world.

NumptyMum Thu 27-Aug-09 23:11:33

Oh Peanuthead, I'm so sorry your scan has given you cause for worry - the other replies here are all very helpful, the outcome is not certain from a scan alone, especially at this stage when the baby is so small. A CVS will give you that certainty - and I've heard varying things about the risk of miscarriage with CVS (like perhaps it depends on the hospital/consultant etc; though have no definite info on this).

You might find it very helpful to get in touch with ARC (Antenatal Results and Choices) - they are a lovely charity that helps parents who find themselves facing uncertainty and unexpected decisions.

I do hope all goes well...

peanuthead Sat 29-Aug-09 10:31:27

Thanks everyone.

Had the cvs thurs, it wasn't too bad but the picture they painted was even more bleak. I just can't work out whether there;s any hope at all as I know they have to be very negative.

Basically if it doesn't have one of the 3 trisomys that come back on tues then we have to wait another 10 days to see which of the other chromosomal abnormalities it could be.

And after that til 20 weeks to see what the cardiac problems are. Again they haven't ever said that it could be nothing.

The problem is also going through an induced labour to terminate; not sure how I'd cope as I didn't cope well with my labour with DD and that was very straightforward but I was still quite traumatised by it (not good with pain or illness!)And it would mean grieving for a while and having to delay the egg donation process for god knows how long whereas having a termination in the next week or so I could just get over it and get on with life again.

Plus carrying til 20 weeks would have to tell people I'm pregnant - it's totally obvious already as I've eaten so much shite to attempt to stave off the morning sickness. And cope with trite comments from well meaning very fertile mum acquaintances. (Yes I am bitter....)

I've booked the earliest termination they can do which is a week after the results came back. But if they're negative not sure I can go through with it.

PorridgeBrain Sat 29-Aug-09 11:32:28

We had a 1:13 result from our nuchal results. We were told that if CVS came back clear we had to have heart scans. We were devastated and convinced with those odds it could only be bad news.

The only thing that kept us going was they had just had dealt with a couple with a 1:2 nuchal fold result and their CVS results had come back clear as did their heart scans.

The good news is that our CVS test results also came back fine as did 2 heart scans, although the waiting for it all was agonising. We now have a perfectly healthy, spirited little girl, who will be 2 next week.

I really hope it all works out for you too. Thinking of you as I know how hard the waiting is.

saintlydamemrsturnip Sat 29-Aug-09 11:59:20

peanut- I have never heard of them being positive but I know a number of people who have perfectly 'normal' children having been given very bleak prognosis at the stage you are at (it's a bugbear of mine tbh).

The way they have explained it isn't great. The reason you wait a few days to test for trisomy 21, 13 and 18 is because they have genetic tests for these - so they can get a quick result. The longer result is when they do a karyotype- which means they take a visible look at the chromosomes - these need to be cultured so take longer. Then the 20 week scan allows the heart to be looked at in more detail. However, many heart problems can be fixed. There are a number of people on SN whose children have had heart surgery and now have no further problems.

The nuchal test in the main is for trisomy 21. If those tests come back negative I'm not sure you're massively likely to see much on a karyotype - so if the key tests for trisomy 21, 13 and 18 come back negative you should feel free to take at least a small breath and take some comfort from that.

The person I know who had a very large nuchal with shocking 'stats' had a clear genetic test so was clear for trisomy 21, 13 and 18. The karyotype came back as being XY/XO which means that some cells carried a Y chromosome and some didn't. Because the results were a mosaic they were unable to tell whether the affected cells were in the baby or part of the placenta. Babe was scanned and was clearly a male. He was born without further problems and it was assumed that affected cells were in the placenta so hadn't affected the baby at all (presumably the baby was tested at some stage to confirm).

Just to let you know that some people go from this awful terrible picture they give you to something completely normal. I do understand that it can be protective to prepare yourself for the worst but if you get good news next week don't torture yourself that there must be terrible news around the corner. That's not necessarily the case.

peanuthead Sat 29-Aug-09 12:10:49

No, I need a bit of hope really. Yesterday I had decided to have a termination whatever the cvs result but today have changed my mind.

DH wants to have no hope at all so won't be showing him your lovely replies as he'll just shout.

My bloods were good I think, although I don't have the details just that we went from 1;2 for all three trisomys on NF alone to 1;7 for the awful two and 1;2 for Downs still.

Thing is I know from getting pregnant that miracles do happen so am hanging on to that; this baby has beaten all the odds to exist at all. And if it does have a trisomy then it underlines the fact that my eggs really aren't up to teh job and that donor eggs in the future is the right option.

Porridgebrain - that's amazing, thank god it was ok in the end for you, I need to hear those stories. I have my own spirited dd about to be 2 next week too. She's about the only thing keeping us going.

I have exams the day after my termination is booked so supposed to be studying now but that means I'm just hanging about on MN.

peanut08 Sat 29-Aug-09 14:34:46

Sorry to hear your going through such a difficult time right now. I know how it feels want to get things over with and start again as I had moments of this too between testing and diagnosis but as you said miracles happen and your baby's still hanging on there's still a chance all could be fine there are some really amazing stories on here.

Even though my baby did have a trisomy the fact he seemed healthy and happy on the scans really helped us and gave us the strengh to wait another 3 weeks for the heart scan our attitude was that he'd come this far and we wanted to give him every chance. A year later and we are thankful everyday that we did things could have been so different if we had listened to the medical team who were all doom and gloom.

The statistical side of things can be overwhelming take time to rest and clear your head even for a few moments. Keeping everything crossed for you.

NumptyMum Sat 29-Aug-09 22:15:36

Dear Peanuthead - it is horrible living through this fear and uncertainty, especially when you must have been so happy about this surprise pregnancy. Now you've had a CVS there are stages that will help you think about what to do next. When you get the early results back, they will either be positive or negative. If they are negative, I realise that means waiting for the full karotype to confirm things are OK but it may be fine - was there any cause for concern on your scan other than the nuchal fold measurement? I was reading another thread the other day and one person (designerbaby) had a bad nuchal but a clear cvs and she now has a healthy DD.

With my own scan there were definite serious problems, indicating probability of trisomy 13 or 18. CVS results confirmed that our baby did have full trisomy 13. If your results ARE positive for any of these (or 21), I would suggest calling ARC as they will help you think through things and they can also put you in touch with other appropriate people. I was put in touch with a volunteer for SOFT UK (trisomy 13 and 18). They won't push any agenda (ie the choice about what to do is yours), in fact the lady I spoke to did decide to terminate her pregnancy for various reasons. She gave me the best piece of advice which was not to rush into a decision, to take a bit of time. We did things like go on an outing with my DS, which is a memory I will treasure, as I know that my unborn DD was with us that day. In the end we did decide to end the pregnancy for many reasons, although as it turned out by that time DD had died.

I do know what your husband is feeling, wanting to have no hope - for myself it was the only way I could think of terminating. It is such a hard decision to take; I found a lot of support and practical advice from this thread (these are people who have lived or been close to this decision, but also includes life going on, grief returning and the need to be with other people who just 'know').

Fingers crossed for you that your results are clear on Tuesday, and that all turns out well. You can't know until then, so try to keep that glimmer of hope.

peanuthead Sun 30-Aug-09 21:25:31

Thanks numpty mum, for a very useful and comforting post.

there are no other problems apart from the fold - I even have a vague memory of the sonographer saying something along the lines of it possibly not being too bad as all the organs are ok. but who knows... bloody bank holidays - I hate them, they always fall at the wrong time. We'd be finding out tomorrow otherwise.

Thanks for the info re ARC - will no doubt call them later in the week.

We're off camping for 3 days tomorrow, hopefully won't be too sick with allday morning sickness while we're there, will get the phonecall while we're away but hoping it'll be a good distraction. We won't be rushing back early either, gives us a lot of thinking space. Otherwise I'd sit at home on MN. It's such a comfort though- keep reading and rereading this thread.

deleting Sun 30-Aug-09 21:40:24

peanuthead. we had 8mm, had a cvs which all came back okay, lots of scans to look for skeletal/organ problems, had blood tests to look for serious infections which could have caused it, these all came back fine. had heart scans, which also showed no problem. now have a lovely 10 week old ds who is showing no signs of any problems. he was however, a month premature and low birth weight, but they are pretty sure this had nothing to do with the nuchal fold and he is completely healthy. Please do not terminate your pregnancy just on the basis of your risk. We had a 1:2 of downs and 1:4 chance of other worse syndromes. Go through the tests first. We went to see Prof Nicolaides, Fetal Medical Centre in Harley Street who was fantastic. Don't know where you live, but if you could get to see him it's worth it. There definitely is hope.

NumptyMum Tue 01-Sep-09 19:16:21

Just to let you know I'm thinking of you today - I know you're away camping; I do hope the news is OK.

xx

peanuthead Wed 02-Sep-09 19:29:16

thanks everyone - and numptymum for thinking of us.

The results came back clear for Down's, Edwards and Patau's but they were still so negative on the phone it just feels like we're prolonging the agony. The MW didn't ever concede that might be a positive thing.

I've cancelled my termination and have to have the cardiac scans next week (on DD's birthday - not that she'll know only being 2) and then the final karyotype results in 3 weeks when they tell us the prognosis, feels like a hell of a long wait....

The implication is still that this baby won't make it. I'm pleased though, I feel like it's got one step on the way. DH just wishes it was a bad result so we could terminate and forget it but I'm glad it's sticking for another few weeks. Not glad to be puking for another few weeks though. And have bought myself some control pants so hopefully can hide it a bit longer - mind you it's so autumnal now may get away with it.

What I don't understand is why other people get the result after two days and are told they're in the clear but we still have to wait for more chromosome results?

NumptyMum Wed 02-Sep-09 22:00:14

Hi Peanuthead - I guess you still feel like you are in limbo, even though you had the clear results for the most common problems (T21, 18 and 13).

This thread explains why the results are quick for these 3 chromosomal problems, although I only had to wait around 14 days for my full results so perhaps check with your hospital again. I know from others that waiting for full results is as nerve-racking as getting the initial clear results, especially when you either have previous history of complications or have had issues with scans/bloods for your current pregnancy. It is a difficult time. And I know in a way what your DH feels, for us it almost helped knowing that my DD had patau's as it confirmed to us the severity of the problems she faced, and helped us to know that for her there was little or no hope - and for her, that an early release would be a better path. But you have had clear results for the major problems, so now you inch forward to the next stage, scans to see if there are any obvious physical signs of problems and your full CVS results. Again, you may want to ring ARC for emotional support and information as you go through this. I guess from a hospital's point of view, they can't afford to be positive because if by any chance there WAS something amiss in the full karotype, it would be so much worse for you - and for them. I'm not sure why other people get told they are in the clear so quickly, perhaps it's that they are in the clear for these three syndromes but in actuality they too need to wait for full results to know that everything is all right.

Anyway, I'm really glad to hear you are doing OK and that initial results are good; and I hope you get good support and results for the next few weeks as you get further scans and your full cvs info... in the meantime, your glimmer of hope is flickering on.

saintlydamemrsturnip Wed 02-Sep-09 22:07:09

peanut- the 2 day results are for genetic tests. They have genetic markers for trisomy 21, 13 and 18 - so they give you a quick result. For other things they need to have a visible check of the chromosomes - this involves culturing the cells they took during the CVS and this process takes a couple of weeks.

For a genetic test you only need a tiny amount of material. For a karyotype (a visible look at the chromosomes) you need a lot more- so you need to grow it.

Hence the time difference.

Your midwife sounds a ray of sunshine! Is this the same one as before?. I don't know - she doesn't have a crystal ball, and tbh medics are very negative about any disability at all - even stuff that is easily liveable with - probably because they have limited experience. I think you can afford to feel a little relieved tbh, I know more people with your results who have gone on to have normal pregnancies than ones who have had bad news.

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