Standard Resolution CVS tests wont necessarily detect absolutely every chromosonal defect.

[Merlot]

Oh my gosh - I hope I dont upset anyone with this post, because its really not my intention but Thomcat's post has rekindled some bad memories for me and I just feel that I need to post this:

Firstly, Thomcat I am so very thrilled that your little one has not got DS - it is truly great news and I am really pleased for you. Your baby, if born on the 22nd will be in good company as its my birthday!....and that of Noel Edomonds!!!

However, I do feel that there may be some people reading your recent posts who might be feeling that CVS is the absolutely definitive way of finding out whether there is anything at all genetically wrong with their baby and I just felt that I needed to tell people my own story.

My husband has a sister with learning difficulties and he himself has a balanced translocation (a chromosonal anomaly which means he is fine, but off spring might not be). When we found this out were advised to have a CVS test to determine whether our baby would be genetically ok. The CVS test was carried out by Prof N at Kings and came back fine and I was ecstatic.

Unfortunately when ds2 was born things were not ok - it was found that he only has one kidney and he has global developmental problems. As soon as this became apparent, my sons developmental paediatrician suggested genetic testing. I was absolutely gobsmaked - after all I had had a CVS test - how could it be anything genetic? Anyhow, it now appears that not every single genetic syndrome shows up under standard resolution testing

This was a huge blow to me - as I had really believed that ANYTHING genetic would show up with a CVS test.

Now, my little ds2 might not have a genetic disorder - it is quite possible - and the jury is still out (so to speak), but some of my problems coming to terms with things has been that I had had a CVS test done previously and therefore I had a false sense of security. In fact I was doing cartwheels that this baby was going to be so healthy!

Thomcat - I hope you understand why I am posting this, certainly not to upset you - actually I dont believe it will, because I think you are aware of what I'm saying already... and because testing for Downs and certain other syndromes is absolutely definitive with a CVS test. I just dont want people thinking....like I did....that absolutely bl**dy everything genetic shows up with a CVS test

I sometimes feel that with dd we're searching for the piece of fluff at the bottom of the Lego box .

Aww, chonky . Are you still having testing?

We're waiting on a decision as to whether to have a skin biopsy for a mosaic form of a syndrome. It requires a GA, so they're trying to line it up with her repeat MRI which will be done under a GA too.

Am I right in thinking that mosaicism is only present in trisomy syndromes? I have a biology degree but I'm very rusty these days , and I was never that good to start with

No, that's a good question, actually. I have no idea whether there is any informaion of frequencies of mosaicism for different things, but in principle you can have mosaicism for any kind of mutation, really. If the mutation arises for the first time after the embryo had already started to divide, so that it's in one cell but the other(s) then the resulting baby will be a mosaic. You sometimes see it in single gene disorders like Rett syndrome, for example, where normally only girls are affected because if a boy had the same mutation it would be incompatible with life. The rare boys who do have Rett are often mosaics, so their normal cells protect them from the full effects.

It's good that she won't have to have a GA just for that, isn't it, but a worry nevertheless.

in one cell but NOT the other(s), sorry.

I'm glad that others have had proper consultations as to what CVS does and does not show. In my case, the geneticists knew that there was an anomaly on my husband's 15 chromosome and this was mentioned on the CVS test report - I just assumed, therefore, that that Chromosome would be gone over with a fine tooth comb and every test that could be done to that chromosome would be done. Unfortunately it doesnt look like that happened.

Tamum thanks for your sage words on this thread -I just wish the geneticist we saw before ds2 was conceived had been as clear and helpful.

Thanks for that tamum. It means that I'll stop scouring the internet and trying to second guess a diagnosis (a really bad, bad habit of mine). I guess we're back to that piece of fluff again.

Sorry, crossed threads.

Chonky - sorry to hear that you are still no closer to answers. We're in the same boat
Trying really hard to not compare ds2 with others of his age, but just to accept him for who he is. I think most days I am managing to do that now How is your dd doing?

Oh and Merlot, sorry for hijacking. Thank you for your kind words, though, and I am really sorry you are going through the mill like this.

Tamum - hijack my threads whenever you want I always value your input and think its great when a thread of mine opens up a wider debate.

Genetics sure is complicated! However, I think the general perception out there is that with today's technology we can find reasons for everything - which is clearly not the case, unfortunately!

DD's doing OK, making small milestones, but very little advance in motor skills. She's still struggling with head control, although it is slowly improving. Whilst we don't want to give up, and never will, I think dh and I are slowly reconciling ourselves with the fact that she may not walk.

I always feel very disloyal when I can't say that she's making huge leaps forward. However, she is still a smiley, happy girl and that's the main thing

Chonky - Glad to hear that your dd is still so sunny natured. Ds2 is too - most of the time!

I know what you mean about dawning realisations - We are gradually adjusting to the idea that ds2 might never speak...

Did you think anymore about Brainwave or BIBIC?

Yes, all the time! It's just the ol' chestnut of persuading dh.

We do get some really good positive support from physio, Portage, SALT etc., but I'd love the opportunity to go to BIBIC so that dh could be more involved with her therapy and also for dd to have some concentrated therapy, rather than the odd hour here and there.

I'm glad your ds is still a happy chap, and IKWYM about the dawning realisations. I find that the professionals involved with dd are very reluctant to commit to whether she'll walk, understandably bearing in mind her slow progress.

I'd better go as I'm a right old miserable moo today and I expect my pessimism is catching

Ok Chonky - Get out there in that sunshine and enjoy the day

Sunshine??! It's been raining/thundering here all day (I live near chonky)

Whoops! Its still hot and sunny here (Surrey), but with some ominous blings!!

oh how funny What I meant to say was blings, but our cybersitter obviously thought (being alcohol) was too rude!

Come back hot, sunny weather, all is forgiven.

the word I cant type...goes with coke and is alcoholic!!!

Have a great weekend everyone (whatever the weather!!)

RUMblings?

PMSL Merlot. Bling bling!

its red hot here

the scouring the internet is awful tamum it comes to something though when you have to explain to a paeditrician that there is no possible way that your daughter could have CF as you are not a carrier and your husband has been tested and is also not a carrier and he turns round and says, yes but your sister has it you will pass it on ???!!!

Thank you Yoyo!

Yes, Chonky, I like the idea of blings!! Could do with a few of those on my fingers!!

I can only hope he isn't one I have taught..... I have to say, I would love to play the innocent and ask him to draw out for me how that would occur