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

sorry tc! go & rest your weary brain, x

and here's another one - this one states that your chances in your situation are the same as those of any other mother your age. I get the feeling that no one really has a clue!

Been thinking about you all day, TC and have read all the new posts. The science stuff makes my head hurt but I think I get the gist of it (tamum and JJ are bloody clever so if they say the odds are unnecessarily worst case scenario then I'm with them). I'm more of a china cup person myself and I go with that I really hope your blood tests give you more reassurance - all these MNers sending you positive thoughts have to help a bit don't you think?

Thinking of you too Thomcat.

I was amazed by what the counsellor told you the first time you told me Thomcat. ALL the references suggest that translocation Downs is familial in only around a third of cases - ie two thirds are NOT familial. Look at the stuff I posted and you'll see that.
Anyway, if it isn't familial, it doesn't increase your chance of having another baby with DS, so I agree with others that your risk seems to have been unecessarily inflated.

Agree with tamum- don't understand that link suggesting that 3/4 translocations are de novo. I did a PhD on Robertsonian translocations (in mice not humans) and would agree with tamum's figures.

My friend worked in a cytogenetics lab abroad for several years and in that time only came across one case of non-familial translocation. It was so unusual she told me about it 5 years later!

How old are you, TC, and what would the "risk" be if they hadn't assumed a history of trisomy 21?

Jimjams, that figure gets quoted at lot....it is in the text book I have been using for Human Biology A2. Doesn't mean that it is right I know. But it does crop up.

Oh TC I'm so sorry you are going through this. But I take heart from what tamum and all the other brilliant statisticians/geneticists are saying here (what an amazing userbase this site has!), I bet your risk is much better than 1 in 89, which isn't that bad a risk anyway. And I'm sure that once the whole integrated result comes back (adjusted back from the translocation figure) it will be a risk factor that you and your dh are happy with. That's what my fingers are crossed for, anyway. xxx

Re the childcare, Thomcat, thats only an issue IF your baby has SN, which seems unlikely at the mo. My ds's have attended a nursery where there was a child with ds and he just fitted in with all the NT children, no problem, they also looked after a little girl with severe CP.

well, for comparison, I was 36 when I had ds2, who had a nuchal fold of 2.1mm, and the risk they gave me for trisomy 21 (no close family history) was 1:505.

I haven't really been around for the last few weeks, just abit a of lurking here and there. Trying again to break this habit.....but.....

I saw this earlier today and so wanted to post something but words just fail me.

I simply can't keep reading without sending you and D and Lottie lots of love and and to tell you I'll be thinking of you over the coming days and weeks.

xxxx

Maybe its one of the horse being the size of a dog quotes or something hmb (can't remember the details, but something S Jay Gould said about people always syaing the first horse was the size of a terrier, but it wan't it just got repeated a lot). Mice will happily produce Rb transloations all over the place without much in the way of problems, but certainly the impression I've had from human cytogeneticists is that de novo translocations are pretty rare.

Thomcat- lots and lots of love and good vibes to you. I'm so sorry you're going through this awful worry. Sending a zillion good wishes to you and d.

Sleepyjess just wanted to say what a brilliant post, really moved me.
TC the science stuff is a bit hard for me too but just so you know we are all here for you.
cxx

How are you feeling this morning, TC? was thinking about you last night - you and D.
XXXXXX

TC - hope you're ok.

This is from my experience. As you know from the thread asking about ds risk I had a difficult time with dd3 - confined placental mosicism with gave an abnormal cvs result, the nuchal neck of 5mm and then I had an amnio -waited about 5 weeks & got the all clear. I wouldn't have had a termination if result should abnormailities.
This time had a larger nuchal neck, blood tests all over the place resultwise and got a 1:20 risk. Had a scan at 14 weeks & all looked ok. Decided to have the triple test hoping to get a good risk value. Got back a high risk. Decided no amnio. Had a scan & that should all strutures looked ok. Didn't want to go to this at all.
I had to decide to have the amnio or not - lots of pressure from doc but kept strong on what I wanted to do. I undeerstand your feeling on running away from the tests this is how I felt.

The tests are stressing & it's difficult when everyone else gets a nice risk ratio & a nuchal neck measurement that's fine. Keep strong on how you feel and what you want. I've read that your nuchal measurement was less than 3mm at 12+weeks. Think this is OK. Whatever risk you get it's what you would do that counts - this is how I think. Someone could have a 1:2 risk & everything will be ok or a 1:1000+ risk & be the one with the abnormailities. I just feel that all these risk ratios can be so meaningless and just give out stress to people.
All the best xxx

TC, hope you are ok today and not too bamboozled...
fwiw, I think you should put all thoughts of 'how would I look after another SN child/how would we arrange childcare' etc etc out of your head. That is soo not the point. I mean, any one of us could be suddenly put in a situation where our carefully planned assumptions about work, childcare, money etc etc go out the window. SleepyJess's story speaks volumes here. Life happens. You will make this decision with your heart, I know you will, and the rest will follow.

I still think it would be worth asking for a risk based only on this pregnancy though, if you are going to make big decisions based on that number.

Sorry to come in so late to this but all your feelings are completely normal and dont feel guilty. Nothing changes the way you feel about your SN child, even if when pregnant again you do have doubts. You are only human.

In my self pitying days i think why me? All the stress I had with sarah (my sister with CF) and making sure I wasnt a carrier of CF before I had kids. Although i would never have wished her not here, she was just so ill. Then i went on to have dd who has god knows what undiagnosed learning disabilities. She is still my daughter. i think if you want to cope with that you can iykwim its up to you both, but dont feel guilty - you are just a mother and normal human being being

I think they are giving you an inflated risk aswell fwiw Didnt eidsvold go through a similar thing?

Hi girls, God you really are so bllody lovely. I now I'm a soppy mare but I mean this so sincerely, you lot are my shoulders and my rocks right now. I can't do this with those close around me cos I'd loose it and I can't do that so, this is where I'm doing my therapy!!!

I thought I was fine, you lot massively helped yesterday, and then one of the mums at Lottie's nursery asked me how I was and I lost the power of speech. I just opened my mouth and instread of words came tears! she was so lovley but just seeing someone I'm friendly with in person and being asked face to face - well I cried all the way to work!

Now I'm back to telling myslef that it'll probably all be fine and the wall is back up around me a bit.

So, I showed this thread to D last night, he scanned it but took his time over the threads were you girls talk about the genetics, the history, the test results etc and apart froim being amazed, touched, and impressed at the amazing women on this site and the huge support you've all shown me, he found it reassuring, which is great, so thank you from us both.

D and I both agree that when we get the results back we'll ask them to do another calculation taking the fact that Lottie has DS out of the equation. I will of course be telling you lot what it all comes out as

So, while i'm not choosing baby names or knirtting booties just yet I'm going to try and be as chilled as possible and eat and sleep well and be as big and brave as possible about it all.

Once again, I really can't thank you all enough, I really can't. Words of support, bits of advice, coming on early in the day to say you're thinking of us, facts and figures, ....... well please just know that it means more than I think you could imagine right now and I am truly, truly grateful. You're keeping me sane.

TC x

thinking of you babe xx

It's harder in RL than on here, hun. Here you can sob as you type and nobody knows.

Really glad that D's read the thread, many many hugs and lots of love xxxxxxxxxxxxxxxxx

Hiya TC,
Well, it sounds sensible to ask for a recalculation. The link bundle posted (and me cos I hadn't read bundle's message, d'oh) supports the assumption that Lottie's DS doesn't have any impact on your risk, so if in doubt go with the research that's in your favour and the china cup test.

At least now you'll be able to talk about how bloomin' awful these tests are with first person experience!

Hope you can chill a bit today.