I had a nucal/intergrated test today

[Thomcat]

Can't **ing believe it.

Did it for DP, he needs to be sure, or more sure of what was happening, so as it's his baby too I thought, okay fine, i'll do the intergrated test for you, then at least you'll relax and we can crack on and enjoy this.

Hmmm, not so **in' fast aye.

Oh, why, why, why.

So pissed off.

Had the 1st of the bloods taken and week of 1st July will have the 2nd lot taken and then 10 days later get full results.

Today they did the scan part too.

It measured 2.4. Was 3 at one point but baby was in a bad position so 2.4 was the measurement she took.
That on it's own, with past history, gives me a 1 in 89 chance.

Why oh why couldn't it just have been a 1.whatever measurement and shut everyone up.

ughhhhhhhhhhhhhhhhh.

Someone pass me the remote so I can hit fast forward, to December.

Maybe I should run away and when i come back it'll be too late for anyone to give me any tests and they'll all just have to leave me alone.

Wish D was cooler about it all, I do understand but..... wish I didn't have to be understanding.

It's all bollocks.

Stupid bloody testing.

What have I always said about this, and now look

Just seen this thinking of you.
Lots of hugs meea xxxxx

I have absolutely nothing useful to add, but I'm thinking of you and wishing it was december already. x

hi thomcat...so so sorry to hear /rad that you have been going through it just recently.god it sounds soo tough,the bit where you spoke of feeling terrified made me cry ,you poor little button..really really want to say most of all that youre innooooo way a fraud for doinf the tests you are ace,a really wonderful person which is so obvious in all your posts..and those of everyone on here thats desperate to help you xxx god itsd heart warming!
xxxxlots of love to your little family xxx

Hi TC, so sorry to hear about your news. I am thinking of you and praying the bloods come back with a better percentage. Big hugs xx

My very spititual friend turned up on the doorstep tonight. She's an amazing person. She's helped me to accept that no matter what this baby is my baby, I'm it's mum and I love him or her and no matter what the outcome those facts will always remain. Whatever decision we may or may not reach, whatever any test results say, we're going to bond and get through this together. I feel so much more at peace with things and more grounded, more still. I'm off to have a bath in a bit and I'm going to start to do my best to enjoy this pregnancy and I'm going to carry on with my journal.

On a less spiritual and more factual side I soke to another friend tonight at when she was 31 (I'm 33 at the moment) and when she was 12 week 0 days (I'm 12 weeks 7 days now) she had a nucal and her measurement came out at 2.7 (mine was 2.4) and her risk came out, without bloods factored in, at 1 in 363 (mine came out as 1 in 89). This has also helped calm me.

So, I'm in a better place.

That's lovely to read, TC, really it is. It's going to be OK, I feel it in my China tea cups.

Fantastic TC! Much more positive all round

Thanks. What she said just suddenly seemed so obvious. I'm wasting precious time worrying. Whatever happens, whatever it is, this baby inside me deserves me to love it, as much as possible, now. It's obvious but I couldn't see that before. I was too busy being terrified. I was clinging on and letting myself feel anytnig was impossible incase i got tipped over the edge. I don't feel like that now.

It was such a shock, that's why. I think, no matter what the bad news is, it takes us a little while to accommodate it, to incorporate it into our thinking. I think you've done that now and you're at the "OK...so that's what they've said...we'll cross that bridge when we come to it" stage.

Plus, I'm with tamum and JJ (what I can understand) - they are taking the lovely Lottie into account when really they shouldn't, and the blood tests are needed for a complete picture...I would honestly try and put the blasted nuchal scan out of your head. Did you and D manage to reach a peace about it all?

tc. i've never met you in rl. but i've met mners who have and who think you are v special. and you are, it's plain to see. i don't do virtual hugs. but i'm thinking of you a lot at the moment with a mixture of hope for you and awe at your strength.

She is special, isn't she, soph (sorry to talk about you like you're not here, TC)

I would like to be a Mum like you, TC - you find such joy in Lottie.

That's a very precious friend.
Well done TC. I love you - you're just so fabulously, wonderfully human.

TC - I am so sorry that you are going through this and glad that you are feeling more upbeat now.

I've been umming and erring on whether to post on this - but here goes - I have worked in prenatal karyotyping - de novo robertsonian translocations are rare, but not that rare. In my experience many parents choose not to be tested after their child is diagnosed/karyotyped so the real figure for de novo/familial translocations is probably not known. I have done a few quick searches on pubmed and got quite a range.

I would have guessed that a risk figure for a de novo translocation would be the risk for your age plus a tiny extra increase to cover gonadal mosaicism ( the presence of a DS cell line in either parent's germ cells)...This would be similar to the risk given to a parent of a baby with free trisomy 21 as they have the risk from maternal age plus a tiny extra increase to cover the risk of having a problem which disrupts the way chromosomes separate (disjunction).
As you are having the blood tests/nuchal you will end up with the most accurate risk for your baby - rather than an academic one.

Sorry if by posting this I am muddying the waters again - I have read your posts (and seen the newspaper articles) about Lottie and there is no doubt that she is a fantastic little girl and that you are a wonderful loving mum. I wish you all the best with your new baby.

Haven't read through the thread but I do know that there are lots of false positives which causes alot of worry. Would you consider having a CVS or an Amnio to get a definite result?

I have to re-iterate, there are soooo many false positives. I have a friend who was told she was having a Down's Syndrome Baby and they got prepared mentally and decided on the name Ciara (I think Italian for dear one) and lo and behold the baby was NOT DS and in fact had no chromosomal problems.

The tests show risk as opposed to definite diagnosis.

You could go to the Feotal Medical Centre in London (020 7 486 0476) for testing to be sure.

TC, I'm so glad you're feeling better, and your friend sounds great. Just keep breathing deeply and it will all be alright.

bluebear, could you actually find any decent figures for gonadal mosaicism? I couldn't see anything that solid in Pubmed. There was one study that looked at non-translocation carriers with one child already with translocation DS and in 116 subsequent pregnancies there were no repeat cases of DS. That gives a figure of a 2% risk because of confidence limits, but that's quite misleading in many ways. I have to say I thought reciprocal translocations were involved in DS rather than Robertsonians, though, so maybe I'm looking at the wrong figures.

Robertsonian tamum - that's why its always the acrocentrics.

i doubt there are any reliable figures on gonadal mosaicism

Hi Jimjams- I knew that would cause trisomy, but I thought that the way the DSCR was identified, and the way they had identified the causative genes, was through reciprocals that gave three copies of only certain regions? That's the way they did it in mice, anyway!

TC - So glad to hear that you're feeling so much better. Good, true friends are so rare but worth so much aren't they?

Based on the china cup test theory, when I was out running yesterday I was getting really knackered but there was a big hill coming up, so I said to myself that if I managed to get to the top of it in less than 150 strides, without stopping, everything would turn out OK for you. Well, I made it to the top, barely alive, but I made it, so there you go...

Hobbling round the office like a penguin today BTW, but if it works - who cares?

TC, I'm going on hol for a week later today, but I will be thinking of you, and hoping all my hopes. It can't help, I know, but I will be all the same.
XXXXXXXXXXXXX

Thanks everyone, this is all helping so much, what a great and intelligent bunch you are.
MandM - PMSL - fantastic. With you girls on my side, whatever happens, nothing can touch me

Oh and meantt o say have a lvely time Blu, I'll be thinking of you too, xx

I understood MandM's Hill Theory but jimjams and tamum (that's the sound of stuff going over my head).

I'm glad you're smiling again, TC.

Going for another one tomorrow
Now i've started this I can't wait until the 15th July, we then go on holiday and .... no, I need to get this all sorted by then. So we're off to Harley Street, Fetal Care Centre or whatever it's called.

And I thought when i took my last exam and passed my driving test that gone were the days of feeling this nervous. So, by tomorrow at about 2/3 ish I'll know pretty much for sure. They are 95% accurate so ..... hmmmmm, roll on tomorrow, I think.
I'll let you know how we get on.

TC - I missed this thread! I'm right there with you with these bloody tests!