Triple test 1:7, CVS tomorrow

[peanuthead]

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.

eah, I understand that it takes a bit longer for the other results to come through - ie around 2 weeks. So I don't understand why we're waiting 3 1/2 weeks to get them.

Am going to ring the hospital and ask exactly when the results will be out and why we have to wait to be told them by a consultant. I'm getting pissed off with the hospital now.

Peanuthead - forgive me if I repeat what others have said - I haven't got time right now to read the whole thread but thought I might be able to answer some of your questions.

If a nuchal measurement is under 3mm in the first trimester but the bloods show a risk of Down syndrome then only the quick test is needed because the only worries are about the common trisomies (Downs, Edwards and Pataus).
If a nuchal measurement is over 4mm in the first trimester then there is a tiny risk of other chromosome abnormalities as well as trisomies. These abnormalities need the cells to be cultured and the chromosomes examined. Cell culturing takes from 7-14 days with the length of time dependent on how many cells there were in the sample to begin with and a few other factors. The examination of the chromosomes then takes a further couple of days. Most of the time the results are ready within 14 days but if the cells grow slowly it can be longer (although 3 weeks is on the pessimistic side!). It is likely if you ring up and ask when the results will be ready the hospital will not be able to give you a date because it is dependent on how the cells are growing.

Just read your last post - are they saying that even when the results are available you will not be told them until a Consultant is available several days/weeks later??

aha - thanks millarkie, I completely understnd now why some people know after 2 days, it's down to the fold measurement size. And ours is huge.

and yes, that's correct , that's exactly what i was told. But have just spoken to a different midwife who said that I can ring in next week for the results (not what was previously said, told to wait for the consultant!)and that the reason we have to wait so long to see a consultant is that I will be 16 weeks by then and they can rescan and see what's going on better.Which makes sense. I pointed out that the baby is unlikely to live that long and she was actually a bit positive, said it may be that they come back ok.

Honestly it's the first time anyone has explained things properly and clearly and actually trusted we may be able to make decisions for ourselves and I told her as much.

and millarkie - did you say tiny risk of other chromosomal problems?

good news on test results so far. if you would like, I can give you the statistics that were given to us from Prof Nicolaides on what the chances were with 8mm fluid (which would be the same as yours at 7mm).

yes please deleting. your story is so positive. we have considered going to the fetal medicine centre but dh was really against getting a second opinion (until a colleague mentioned she'd been there.... )and now I don't think there's much point.

Deleting's stats will be better than anything I can get hold of at the moment but yes, in my humble experience once the trisomies and Turner's syndrome have been ruled out by the quick test (am assuming they tested for sex chromosome number as well as trisomy) then the majority have a normal karyotype - however chromosome abnormalities are not the end of everything - still have cardiac abnormalities etc to rule out (sorry to sound like a doom-monger). It's just that a nuchal over 4mm puts you into a higher risk group than everyone else.

millarkie, don't assume anything - they haven't told me if they checked sex chromosome nos but I assume that's an easy test as it's only counting the no of xs or ys so they may have had the results back. but forgotten to mention it. sigh...

will get back on the phone first thing to ask them about that. the original mw said only that it didn't have down's, edward's or patau's. "as far as we can tell". which I questioned and she said they def don't have them.

thank god for MN - it's saving my sanity. and I'm getting more useful info from you all on here then anywhere in RL.

sorry to leave you hanging, had to go out quick. we had the same treatment as you at our 12 week scan. sonographer was so negative, as was the person who explained our odds and options. We had to ask for a photo as they presumed we didn't want one.
in contrast the sonographers and professor at the fetal medicine centre were fantastic and although our situation was the same it was dealt with in such a way that we felt confident to carry on with the full facts. if your cvs results come back fine i would still book in to see him if you possibly can. he will answer any questions you have honestly and there's not much he doesn't know. by the way did they look for a nasal bone?

Anyway, from memory but pretty sure, these are the stats he gave us, but bear in mind although you can't get away from the fact that high nuchal fluid is mostly bad news it can be a normal variant. as malarky said it's true that chromosomal abnormalities are just the start. 50% chance of chromosomal abnorms, 25% chance of heart defects, 15-20% of skeletal/organ defects, as in organs forming in the wrong place, 5% that the fluid reduces and returns to normal levels. of those 5% whose fluid returns to normal 2% will have a genetic 'disorder' (can't think of a better word, but may never affect baby).

another thing that can cause raised nuchal fluid is an infection, so you should ask for a blood test. do you have a cat? toxoplasmosis can cause it and you need to get that done quick because you can get antibiotics, but they only work if taken early.

I just wanted to wish strenght and sending positive thoughts and hope. It is VERY difficult - i was in the situation.
((((hugs))))

thanks deleting, that's really clear. I know it's something bad just can't take the wait. At least it's only a few days now not 3 weeks as we were told.. We don't have a cat, I had one for years though so it;s unlikely I got toxoplasmosis recently as I'm sure I would have already had it. As far as I can tell you have to get it while pregnant and that's really unlikely.

Rang the hospital, the sex chromosomes only come in with the full karyotype apparently, so that's next tues onwards. sigh......

Peanuthead, what an awful rollercoaster you are on and I totally sympathise.
I am on my 4th pregnancy...but have had two terminations and know all about the awful tests, scans and waiting.
In brief: 1st pregnancy, first scan was at 20 weeks. Heart and brain and other abnormalities were picked up, and Edwards syndrome was their first guess. I had an amnio, and they warned that although the tests might come back clear for the major trisomies, I needed to wait the full 2 weeks for a clear picture. This was true, initial results showed clear, but we knew from the scans all was not well, and two weeks later a chromosomal abnormality showd from the cells grown. It wasn't Edwards, but an un-named chromosomal problem. Scans at Kings had also shown a bleak pic and we decided to let our little one go.
2nd preg: had nuchal scan, reading average, and combined bloods gave a very good odds, so we left it at that! And now our Dd is almost 3 and lovely!
3rd preg: thought we could only be hit by lightening once, but nuchal scan was on the high side of average, and combined bloods then gave us 1:80 odds. We opted for a CVS, done at Kings. They scanned and found heart problems amongst others things. Initial results after 2 days, all clear for major 3 trisomies, but obviously we knew there were heart problems. After 2 grim weeks of waiting, full results were also clear, much to surprise of consultants. But the heart specialist at Kings asked the lab to do a FISH test which probes for a particular chromosomal abnormality. 2 days later we were told it was Di George Syndrome. World fell apart a second time, much heartbreak. As scans had shown such major problems, we decided to terminate again.
4th preg: 19 weeks and counting! Nuchal was a very low reading, but combined bloods gave us 1:230...not bad odds but still considered high risk, and with our history, I felt we would be that 'one' again. However, scans, back up at Kings, looked for nasal bone, and lots of other markers, and they re-did our bloods. Taking everything they had seen into consideration, our odds changed to 1:23000 (or something great, my brain is gone..). So on the strength of this, we opted out of the planned CVS. Scans at 16 weeks all looking good, and 20 week ones soon.

Sorry, said I'd be brief. Just can't condense my babies precious little lives. I guess what I am trying to say is that it's worth having the scans and tests, because you never quite know how it's all going to work out.
And I know what you are going through, the un-certainty etc. Do get a second opinion if you need it, ask as much as you can. Every pregnancy is so different, and you have to do what you feel is right for you and your family. ARC were fantastic for me, and have been so helpful. I have cried on the phone to them many times in the past, but that's ok.
I am thinking of you and wishing the time to pass quickly.
Hugs, Lins.xxx

hi peanuthead. just got back from hospital. ds2 had hernia repair and we had to stay in overnight as he's so small. good luck for tuesday. when you had your scan were there any other markers? i know it's really difficult to know when to stop as if you decide to terminate later it would be a much more traumatic experience. we felt the same as your dp and almost hoped for the worst to have the decision taken away from us. with the positive cvs results there was still such uncertainty. have you decided whether to go to fmc? i know i sound like i'm on commission with them, but i don't think we would have got this far without him being able to answer our questions and their positive approach. he only does wednesdays there so you would have to book in early.

deleting - poor ds2, hope he's recovering. There were no other markers at all, which is what's keeping me going. We decided to wait to see what the final karyotype results are and see what the cardiac specialist says. If these two come back clear we will probably go to the fmc to see what they think. Otherwise it's just money down the drain if it's got some condition where we need to terminate anyway.

Don't worry, I know how when you've had a good experience somewhere you want everyone else to share it!

any news? have you had full results?

Hi Peanuthead,
I hope you are ok - i just wanted to post offering my support as i have been through this exact same situation. I had a measurement of 7.7mm at 11 weeks, the fluid had spread all round the baby's organs and they dectected a heart problem. The staff were wonderful to me but they too gave me a very bleak prognosis.
I had a CVS and two days later i got the news i had a little girl with turners syndrome, although kids with this disorder can go on to live very full lives in my case (with the severe case of hydrops and heart problems) they said she would miscarry and were suprised she was even still with me.
I had a surgical termination yesterday (so very very sad).
I really hope and pray everything works out for you. It's a horrible horrible time to be going through. I also understand how your OH is feeling too, as funny as it sounds i was hoping my CVS came back positive because deep down i just knew where we were headed and i didn't want to drag the pain out.
Sorry to post a story with a bad ending but it helped me to hear the good and the bad and to feel less alone in all of this. Remember every story is completely differant and as some of the posts here already show they is always HOPE.
Katie xx

Hi sorry, went awol for a bit , had 2 days of exams and also morning sickness has returned of an evening with a vengeance.

We had the scans with the foetal cardiologist and they don't look good. The baby def has a major heart defect - not quite as bad as left hypoplastic ventricle or whatever its called but pretty damn bad. It seems to only have one working chamber but has all the right vessels going in and out. They think anyway, nothing will be definite til 18 weeks. That's another 4 weeks from now....

We get the rest of the karyotype tomorrow hopefully and we both kind of want it to come back as Turners or some such as then we will have to terminate and won't be forced to make any difficult decisions or wait another month to terminate... Not sure I can take another month of this, I've aged about 10 years in the last 2 weeks. I do keep feeling a little hopeful that maybe we can cope with a seriously sick child but then the prognosis is so poor I don't think I could bear it.

Thanks for posting Katiec, been reading your posts elsewhere, and I suspect will be joining you on the termination thread too. I only hope that post termination is easier than this limbo.

Just want to sleep.....

Dear Peanuthead - I'm sorry the scans are not looking good, I was hoping that the news would be better for you. The limbo is so difficult, isn't it - especially when other factors are prodding at your mind. I remember agonising about whether to continue with the pregnancy to give our baby a chance, however slim, versus terminating which would mean we could perhaps try for another baby. And then I would feel guilty and callous to be thinking like that, given I was still carrying that baby. It IS very tiring. You can't distance yourself from it, it interrupts your sleep and tangles your thoughts.

Have you been in touch with ARC? They offer a good listening ear, which might help you offload a bit.

I hope that tomorrow gives you more clarity. Wishing you strength for the time ahead, and peace for tonight especially... xx.

Hi peanuthead, I posted earlier on your thread and have been following your story.
I'm sorry you've been been given bad news at your cardiac scan and realise you have to wait for a more detaild scan but was wondering if the hospital had any idea at this stage what the defect may be (as in the medical term) and what they thought the prognosis was.
It's good to hear your baby is still hanging on, don't give up hope I know how it feels to wish for the worst from your karyotype result so that decisions are made easier it's such a difficult time.
If you did want to read some stories of others going through the same the heartline website offers a fantastic forum including a thread for women who are pregnant.
Hope your results come through clear and you can take the next steps.

Thinking of you today hun, the limbo is awful, big hugs to you J x x

Thanks everyone.
still no results today even though they said they'd be back. have so far been sick 3 times today. the waiting is just getting worse and i'm starting to not be able to deal with anything at all.

We didn't ask the name of the heart defect - if the karyotype results come back I wuill ring to find out; it's a single chamber defect anyway. thanks peanut, will look on heartline now. just wish i didn't feel so ill on top of everything else....

Sorry that your results didn't come through today peanut and that you are feeling so ill. The waiting game is agonising and the stress can make you feel so much worse. I remember suffering with terrible headaches and sickness when waiting for ours I know it's easy for me to say now but try to get lots of rest and clear head time if you can. Hope tomorrow brings you positive news.

so sorry you're being kept hanging on. is there any way of contacting them, or perhaps your doc could chase it up. these things can get lost/delayed in the system. thinking about you. hope you get better news very soon. just to say that our 20 week scan of heart showed an anomaly that could have explained the fluid, but they couldn't be sure. it showed that maybe one side of the heart hadn't been developing properly, because the other side seemed to be stronger (and even our very untrained eyes could see the difference). it could have been compensating. it was now fine and both sides functioning normally. It's the only inkling we had of what could have caused the extra fluid.

thanks p and d - think it is the stress making my morning sickness so awful - it did go on this long last time but wasn't this bad. it's just like the final insult...

the midwife chased up the lab for us and said they didn't receive the sample til fri 2 weeks ago even though we had it done thurs so that's why it's not back yet. She was very nice, said a termiation can be organised within days once we make the decision so I will still be having that next week. Probably.

deleting - stop giving me small nuggets of hope! the cardiologist was so cagey he refused to really say anything although he did say it was unlikely to rectify. But then he said he also couldn't say how bad it would be. But it was more than likely bad. It was all probablys adn possibilities and suspicions but all bad ones. So who knows...

It will all be over soon I suppose....

Dearest Peanut head
I am following your words and feeling your pain - you poor,poor thing.
The waiting, God there is nothing like it.
I understand why you do not want to have hope; preparing yourself for the worse is a way of coping.
I am over on the support for women who have chosen to terminate thread; if that is what this sad tale comes too, well we are there. Nobody would chooose to be, but we are. And we will look after you.
Rest as much as you can.
Hold on tight to loved ones
Bee xxxxxxx