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

The China Cup Test is definitely the one I would go by.

TC, I read all of your posts when I was deciding whether to take the tests or not. I was leaning against it and your posts further convinced me of it. but....DH really wanted to know! . So, like you, I said OK, after all is his baby too.

Well I got slightly better odds than you, but still didn't help me. What odds would really be enough to get us completely chilled? 1:89 is very low in the practical sense, specially when I am sure lottie is weighing heavily in the outcome...

I know none of this helps, but perhaps would be useful for you to talk with D about what odds he can live with and perhaps give up on any more tests?! After all, by how much would it have to change to really make a diifference to you and him?

TC - as if pregnancy isn't worrying enough you now have this to deal with. But you will get through it.
I hope the next couple of weeks go quickly so that you can get the tests over with and move on.
Take care.

TC, I read this just before I left work, and I have been thinking about it all the way home. You know, I think they have got these risk measurements wrong. I can not see the sense of treating your risk as being increased in the same way as it would have been in Lottie had had trisomy 21. She has a translocation, and neither you nor D are translocation carriers. Everything I know about genetics leads me to think that must mean that this baby is at no higher risk of having DS than the normal population assuming the test results were right. They seem to be using data derived from trisomies and applying it to your situation inappropriately.

I shouldn't be saying this and going against their expertise and advice but what the hell. I think they have potentially given you an inflated risk estimate.

You've got so much to come to terms with that I don't suppose this will help, but I had to say it.

My thoughts are with you, really. xx

TC, sorry you're going through this, rubbish isn't it.

As you know I went for the CVS when it came to my subsequent pregnancy, and I felt like such an ar$e for doing it. It took me ages before I was able to admit it to anyone face-to-face as I thought everybody will just think I'm a complete hypocrite or something.

Anyway, fingers and toes crossed for you.

tamum could be right, TC.

Tamum - thank you! I have been mulling this aspect of TC's recent experiences over in a completely non-expert way. I knew there was something not right about TC's risk calculation. TC, I agree with bundle - this could make a huge difference to you. Sending you lots of love XXX

I couldn't see why they'd factored it in either, in equally non-expert manner.

Thanks girls I hesitated to say anything because of course they need to take the nuchal measurements seriously, but I bet that "risk" is wrong.

Bless you elliot! The rest of the scan was very nice. You can tell by the word 'nice' that it was overshadowed but DP was loving it. he kept saying 'ohh my god, it's mad, oh my god it's freaky, oh but in a good way', oh Sar' look, oh wow, hey was that it's hand, oh look, oh wow'! And it was lovley but I was very bust staring intently at the neck area and thinking 'ohhhh it looks like it's gor a fat neck'! And then squeezing my eyes tight shut and saying 'please, please, please' to myself.

oh tamum, okay, will be practical and calm and grown up about this, but thanks. Thanks - really, yeah, maybe aye, a very good point and one I'm going to remember.

Also I am 12 +6 so, the neck measurement would be a bit bigger than 1.whatever as the baby is a bit bigger, a 2.4 with a 12 +6 isn't maybe so bad.

And the Chine cup trest came out ok too!

Don't think I'll start this one's baby journal and stuff just yet but will try and focus on theposiive things more and push the negative thoughts to one side a bit.

Thanks girls.

well, tamum, since the b*** doc went and disclosed the risk based on the nuchal alone (when the WHOLE POINT of the integrated test is to reduce the false positives you get on the nuchal - so fewer people going through what TC's going through now), it wouldn't surprise me if there were other misunderstandings.

Oh Thomcat I am so sorry on checking this that it is your thread....
I don?t have much intelligent to say except that I really feel for you and I?m sorry you are so worried.
Please don?t feel bad that you said you wouldn?t test and now you have. As marthamoo (I think) says, it?s the same little much-wanted baby in there.
Maybe reread your thread of when you found out you were pg, that was so wonderful....

FWIW I had the blood test with ds2, I was 39 and sort of felt some pressure to have tests (eg was told I could have an amnio on demand as it were). Felt like you that the test was pointless and told me nothing and in any case I didn?t want to terminate....but I still had it and was obscurely relieved when I got a 1 in 600 result or something.

It makes no sense, you just have to know that whatever happens the baby will be so so loved.
You are so much in my thoughts. Wish it could be that happy day in December now.
claryxx

Great minds think alike Tamum- that's what I said. As Lottie's translocation was spontaneous then her translocation should be ignored.

Sending lots of good thoughts your way, TC & family. xx

I know Jimjams

It was TC's reply to you, that they are treating this as if Lottie had trisomy that really gave me pause. The stats for recurrence rate are based on population data, and I can't believe that there can be enough (any?) instances of non-translocation parents having more than one child with translocation DS to base any kind of figure on.

exactly-it doesn't make sense.

the thing is we have seen a few medical professionals by now as you can imagine and they all say that D and I are the only non-familial translocation parents they have ever come across. That's not to say we're the only ones that exist but the genetic teams at all the 3 hospitals we've been seen at and all the staff whose paths we';ve crossed at al hospitals, the GP's, everyone we've met in the 3 and a half years all say the same, we are the only ones they know of. So I guess that might mean they don't know where to put us with regard to the risk of it being repeated and therfore have grouped us into trisomy 21???

Oh TC, I'm really really sorry you are having a crap time with this. How absolutely horrible for you.
On the subject of your risk being increased by already having a child with DS, I found this information. It basically says that when risk is calculated, they do calculate the risk as much higher if you already have an affected child HOWEVER for 95% of couples the risk is NOT higher - the extra risk is only there for 5% of couples but when giving results they average this over all couples. I hope this makes sense.

This is the info: Previous affected pregnancy

The risk for trisomies in women who have had a previous fetus or child with a trisomy is higher than the one expected on the basis of their age alone. In a study of 2054 women who had a previous pregnancy with trisomy 21, the risk of recurrence in the subsequent pregnancy was 0.75% higher than the maternal and gestational age-related risk for trisomy 21 at the time of testing. In 750 women who had a previous pregnancy with trisomy 18, the risk of recurrence in the subsequent pregnancy was also about 0.75% higher than the maternal and gestational age-related risk for trisomy 18; the risk for trisomy 21 was not increased44. Thus, for a woman aged 35 years who has had a previous baby with trisomy 21, the risk at 12 weeks of gestation increases from 1 in 249 (0.40%) to 1 in 87 (1.15%), and, for a woman aged 25 years, it increases from 1 in 946 (0.106%) to 1 in 117 (0.856%).

The possible mechanism for this increased risk is that a small proportion (less than 5%) of couples with a previously affected pregnancy have parental mosaicism or a genetic defect that interferes with the normal process of dysjunction, so in this group the risk of recurrence is increased substantially. In the majority of couples (more than 95%), the risk of recurrence is not actually increased. Currently available evidence suggests that recurrence is chromosome-specific and, therefore, in the majority of cases, the likely mechanism is parental mosaicism.

I am sure that they have no reliable statistical information for your case, since Lottie is so astonishingly rare (as well as fab!).

Yes, you've got it exactly TC. I genuinely can't see how they can have any background information to base this risk calculation on, so they've just gone for the default, which is a risk calculated purely on the basis of trisomy. Just hang in there girl, I'm sure this is going to work out.

Tamum would have more info but I would have thought that the pocesses involved in a translocation is different to trisomy 21 and therefor extraploation of data is dodgy?

I really don't understand why they say that translocation Downs is always familial - when I researched this I found all the sources saying that it was more likely to be non familial - like this.
The second type is called translocation since the extra 21 chromosome is attached or translocated on to another chromosome, usually on chromosome 14, 21 or 22. If translocation is found in a child with Down syndrome, it is important to examine the parents? chromosomes, since in at least one-third of the cases, a parent may be a carrier of the translocation. This form of chromosome error is found in 3 - 4 percent of the individuals with Down syndrome.

None of it makes any sense, it's all madness really! 1.this and 4.that and x percentage here and a mm there! But will read this at home, and I think it'll be over a glass of wine tonight.

hmb, you've got it in one. I know aloha, I hadn't thought of TC/Lottie's situation as being that rare, but I am also sure that there can't have been enough cases to have collected the background data.

TC do you know if they are going to do the same risk adjustment when they do the full results from the integrated test, or was it just something this particular doc came up with in interpreting the nuchal fold result?
Could you ask to be given a probability ignoring your history? Perhaps that's more hassle than you want to go in to just yet. But it could actually be quite important in figuring out the number you eventually get - if they are loading the dice against you, so to speak, then the actual measurements might be pretty irrelevant - when really YOU want to know the risk in THIS pregnancy. So its important to know whether the dice loading is accurate really isn't it?