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

TC, it is so unbearably unfair that you are having to go through this. I am so sorry. And I'm keeping everything crossed that it works out, for you and for D.

Sorry to read this TC. Don't have much to say that hasn't already been said. Let's hope the risk comes back low. Just going to make donation to DS Soc as had forgotten.....

aloha, that's what I thought. I know two other kiddies with non-familial translocation, and none with familial one (not that I'm aware of, anyway)

Re this 'rare' thing when i did my own bit of research it didn't seem that we were unusual but yet all the hospital staff, all say they've never come across it before or know anyone who has.

The genetic conseellor who told us the news initially, that is was non familial said it was the best result she'd ever had, she was freaked out by it. And that's been said over and over.
When we were 1st told Lottie was translocation we were told that we were carriers. we weren't even told that it could be the case that it would be non familial, we were just told 'right that's it, all your children will have DS'. But people were freaked by the fact that we had no family history of it and then when we were both tested the results came back that we weren't carriers so........

But I thought that even if you were carriers of a translocation you can still have children who don't have Downs? But that they would be carriers. I'm confused about this.

TC, no wonder this has knocked you back so much...it must be bringing it all back....
I'm not a geneticist but it does seem from this that maybe you will need some expert advice in interpreting your screening result. I suspect if you are being dealt with at your local hospital by people not expert in this field, maybe they are out of their depth.

think elliot makes a really good point TC, could they/would they refer you to a specialist?

TC - this is all over my head - so I'm going to join you in putting faith in the the teacup

quite a good explanation of the genetics of DS here for anyone who's interested.

particularly this bit:

Up to one-third of cases of translocation DS have a familial (inherited) basis; the rest are sporadic. Examination of the chromosomes can determine whether a parent carries the translocation. Unaffected carriers are said to be balanced, having one copy each of chromosomes 21, 14, and t(14;21); there is no extra chromosomal material and hence no features of Down?s syndrome present. The chance of subsequent children having DS is around 12% if the mother is a balanced carrier of a t(14;21) translocation, but only around 3% if the father is the carrier, or neither parent carries the translocation. The frequency of translocation DS is not affected by maternal age.

So basically, the statistics they have given you, TC, are hugely inflated - and that in any case, even as they stand are a much lower chance of bubs having ds than the 'average' for parents who are carrier-translocation.

Have I got that right, Tamum?

Thomcat, I agree with tamum purely from a sense of logic that they shouldn't have taken Lottie into account at all so that 1 in 89 is probably too high. I remember when I was pg with ds1 a stupid doctor quoted some statistics at us that ds1 might have "problems" because he was breech. Even thought 2 older more mature, sensible doctors who had qualified before tests, scans and statistics had become so fashionable reassured me endlessly, I was still on tenterhooks until he was born and when he was born I kept scrutinising the poor child and analysing every little move he made, convincing myself he was having convulsions even though he just had wind! It put a dampener on the pregnancy which need not have been there at all. Just try to relax, your baby will be fine, I think the china cup WAS a sign!

But again, on that they still don't give the risks involved on future kids if you are non familial transloaction, they give it fro familial translocation and for trisomy 21 though.

don't know anything about this complex genetic inheritance and probability stuff TC, but wanted to lend my support, an ear, a shoulder (anything you'd like really) and take a moment to remind you what a wonderful person you are

hmmm..thought the "or neither parent carries the translocation." referred to non-familial.

sorry, i'm confused too

TC, lol re the 'china cup' test I play those kinds of games too.. but I only dismiss them as 'games' if the outcome is not what I want!

TC, re 'another child with SN'.. I don't know how to put this.. but I am going to plunge in and try.. Disregarding for the moment the fact that the odds are VASTLY in your favour of the baby not having Down's.. and of not having anything wrong.. I just want to say this.. (and still don't know how..!)

As you probably know, DS1 has cystic fibrosis and when I was still with ex-H (DS1's dad) we had vague plans to have another baby.. and definite plans to have pre-natal tests.. but quite what I would have done with a positive-for-cf result on a new pregnancy, had I got one, I didn't know then.. and don't know now. (The risk is 1 in 4 with 2 cf carriers.) I know now what I should have done with positive result.. but not what I would have because I wasn't the same person I am now because I didn't have Alex then.. obviously.. and he changed everything I ever thought I knew about myself.

So Ex-H and I split up and the dilemma of another baby never had to be faced. New DH got tested for CF genes.. he was clear.. and we happily went ahaead and eventually had DD.. and enjoyed not only the fact that we had a beautfiful little girl but also that she was so textbook! No worrying symptoms.. no scary diagnoses.. no baffling lists of drugs.. and no sickening dread about the future... So that was us.. I had my two children, one of each..I was dealing with DS's illness..shoving all the fear of the future and 'lifespan' stuff far, far to the back of my mind.. and all was well.

Then along came another pregnancy while we waited for the vasectomy appointment!! So we find we're have another one.. another DS .. and I have the usual bog standard tests with no real fears because DD was fine after all.. DH was not a CF carrier.. there was no real reason to worry.. and all the test results.. even the scans were perfectly ok.

So along came Alex...with high drama from the moment of birth.. SCBU for 9 weeks.. loads of problems but no real answers.. and no time to consider future risks because we were living one day at a time just to see if he made it.

Well he made it.. as you know.. .. and he is my gorgeous, sweet, fantastically sociable, chuckling, crawling, dribbling, Makaton-signing, banana-eating, calamity-causing very-nearly-five-year-old-little man, who happens to have severe disability and many health issues.. not that he cares a bit! And in some way that is hard to define, neither do I! If anyone had told me, at ANY point pre-Alex, that I was going to have a severely-disabled third child with many speical needs and requirements which I was going to have to learn to handle, I would have been quite horrified to the effect of 'Why ME??! I have a child with cystic fibrosis! Isn't that enough to deal with? And besides I CAN'T do it! All my time and effort goes into keeping DS1 healthy! I can't and won't handle anything more..!' (In fact I would be lying if I said I didn't feel like that for a short while.. but Alex's 'condition' has become apparent gradually fortunately, so every time we have had a new realisation about the possible future, there has always been so much to cling to and be thankful for.. and I am honestly glad that the pre-natal tests showed nothing wrong.. and that even in the early days in SCBU we had no concept of what the future held because it might have changed, to some degree, the way I feel about him now..)

My rambly point is this.. (deep breath lol).. I NEVER would have 'wanted' another disabled/sick/'different' child.. I felt it was my right to have other children with no health problems! I'm not saying you feel like this but this is how I honestly felt, rightly or wrongly. And heaven only knows what I would have done with test results (whilst carrying Alex) that might have given me some indication of what we were to face from a disability point of view! So thank GOD there was no indication of anything because no results could ever have told us the important stuff.. the 'essence of Alex' stuff.. that has changed our lives into something we never would have experienced.. has changed DH and I.. made us find qualities we not only didn't know we had.. but actually didn't have, I don't think, until Alex came along and gave them to us! And made us feel a certain type of love which isn't stronger that what we feel for the others.. but different somehow.. and made his siblings love him so much that if bus is late bringing him home from school they wait at the top of the road for him.. (they certainly wouldn't for each other...!)

And I know you feel this way about Lottie. Your posts jump at me because I so identify with all your challenges and experiences and it's so obvious the way you feel about her. And I know all this torment you are feeling is wrapped up your worry about what your DH is thinking and feeling..and a kind of 'loyalty' to Lottie.. but for what it's worth I would never ever have imagined that my DH could be the way he is with Alex. He is so not given to making flowery statements of any kind but once said he thinks he might have been "born to be Alex's dad!" And I can believe it! So please please don't stress too much over what DH is thinking because it's all what-ifs at the moment and neither of you know what might happen if the unlikely DID occur and this baby DID have Downs or something else.

Anyway, no idea whether I've helped.. just hope to God I haven't done the reverse.

Loads of love and (((hugs)))

SJ x

Just did a search on google for non familial translocation and nothing came up. only stuff for familial.

What a lovley 'voice' to 'hear' in the middle of a very confusing 'technical' conversation Twiggs, thanks hon'.

No, you're right bundle, but the estimates I've seen for de novo translocation recurrence are much lower than the ones on your link, more like 0.05%. They're all based on such vanishingly small numbers that they're all going to be very inaccurate though.

here's a table with risks according to type of translocation, and parents' genotype..

For translocation with chromosome 13, 14, 15, or 22
where parents' chromosomes are normal, it says: Usual chance for mother's age

just read you post SJ and thanks hon'. I hear you, i do, and what you're saying is why i wish i hadn't had the test at all and why i wish they didn't exist, becasue once you know what might happen, esp when you have a child with SN already, well it does make you feel a bit different and you feel panicky etc. the not knowing and dealing with the hand you've been dealt is the way i would have preferred to go, no choices, no ption, just a baby born to us that will be loved and adored the way Lottie is. But the testds do exist and I did have them and options are open to us and right now D and I are coming from this at slightly different angles. Who knows maybe the risks involved will improve and it'll all end up being fine. And who knows if they don't D and I may find we are united on waht we want to do, whatever that might be when it actually comes to it. I find it impossible to get my head round amking a final decision in my head until i am faced with some more conclusive results.
I've always been so sure that i would not have tests, no way, no how and I'd have this baby, but I totally understand D 's reaction and way of dealing with this. Everyone agrees it is very different for dad.

i spoke to my mum today and she said all the usual things you'd expect but she also said, while acknowledging this was a decision only D and I could and should make, something else to consider was - if this 2nd child has SN, who do I exoect to care for him/her while I work?
My parents 60 and 63 yrs old look after Lottie while I earn a living in the outsiude world. can i ask them to take on another child for me that SN while I work, if not a) can i afford a chiuldcarer whoi would take a child with SN on or b) could we afford for me to give up work?

hmmmmmmmmmmm.

Brain hurting now!

TC x

while I was typing i missed bundle and tamum's posts so thank you girls and I'll look at it all at home with d tonight.

That and print it all off and memorise it for the next appt!

\link {http://www.nas.com/downsyn/benke.html\Here} is a lot on translocation DS, and recurrence chances if it's non-familial.

Here
Sorry, should preview!

"In about three-fourths of translocation DS neither parent is a carrier, and a mutation in the germ cells of one parent has caused the translocation. No one knows what causes these mutations. In cases of a new, or de novo, Robertsonian translocation, the risk of a couple producing a second DS is low, estimated to 2-3 %. There are rare instances of recurrence on record, and prenatal testing in subsequent pregnancies should be considered."