would you have amnio if nuchal was 1:27000

[beeny]

I am 38 and have one ds who is two.I just wanted some advice

What do you mean "amnios are not 100% reliable"?

No - excellent odds for your age!

Like, there is a tiny chance that laboratory technicians might be so stupid that they don't see an extra chromosome in front of their eyes? Or that computer may malfunction?

Because, as we all know, under normal circumstances, amniocentesis results are 100% reliable.

I wouldn't

but entirely your choice

beeny - what have the doctors advised you? I agree with Cote, if you go for an amnio, find out the success rate and experience of the doctor who carries it out.

Well there have been (rare) cases of mistakes made during amnio - sample mix ups in the main, and of course it's never guaranteed that the cells will grow (although you would probably still have the early test results).

Very recently published research has shown that for every 3 babies with DS prevented from being born 2 non-affected babies are miscarried. link to a report on the research here

'Human error possible' (as with everything) is not the same thing as 'amnio is not 100% reliable'.

Thanks everyone really appreciate input

Well I suppose it depends on whether you're interested in the result or not. The cells don't always culture.

CVS can cause problems for interpretations with mosaics.

And tbh both can cause the families involved problems if the nature of mosaics and other complications etc is not explained well.

Which isn't a reason not to have one. But is perhaps a reason to look at what it is you want to know and think about how you would deal with an unclear result (say XY/XO mosaic - know someone who had that from a CVS - just raised more questions than answers really).

Well, I am not impressed with the "risk factors" given (I opted out of the triple test) so to me, if I was your age, I would probably have the amnio or nothing at all.

jimjam - I have read enough of your posts over the years to know you understand what 'reliable result' means: Can you or can you not trust what the result says? i.e. When amnio result says your baby has DS, is that a fact? Or when it says your baby does not have DS, is that a fact?

The answer is 'yes', in both cases. Amnio results are 100% reliable.

And re "whether you are interested in the result or not":

Anyone who is not extremely interested in the result will walk out of that room when she sees that needle, I guarantee you

No

You are more likely to have a miscarriage. Unless the peace of mind is worth the risk I would not.

Cote my point is that you could have a trisomy 21 mosaic. Which tells you what about the child? That they may be mildly affected to the point of hardly being affected at all, or they may be more affected. I recently met a child with DS doing 9 GCSE's.

This is the sort of counselling that is needed. A mosaic result (for any condition) is, in my book an unclear result. Sure the chromosomal test is 'reliable' but it doesn't tell you much about your baby- which is why you're having the test in the first place. Something like a XO/XY mosaic tells you even less.

And if the lab ring up and say that they haven't cultured the cells then no I wouldn't call that a 'reliable' result. Yes I may have been given partial results from the genetic tests, but it wouldn't be the full results I was expecting.

Lazypainter what age are you

i was 40 with my last child, odds at nuchal around one in 470 and I didn't. Remember, the odds against a child having Downs at birth is DOUBLE the quoted figure as so many affected babies miscarry. I really, really wouldn't with your extraordinary odds. For me what made the biggest difference was seeing my baby on screen - my little girl!
Did you see a nose bone?

Sorry beeny, maybe I gave the wrong impression. I am 28. At my age, the risks are less and I don't see the point of the risk factor as I will not have an amnio now, so it will only give me something to worry about when the figure is not based on anything concrete. So I refused them all.

In 10 years time however, I can see how things would be different. The risk would be higher. But I would either want to know or not want to know, IYSWIM. And if I wanted to know, I would want to know for definite, not some number than would freak me out unnecessarily, as I worry about everything.

So for me, if I were you, I would refuse them all, or have the amnio. Not sure whether that is actually, in reality an option though.

I know exactly what you mean about not relaxing in pregnancy, maybe the amnio would set your mind at rest? To know for straight, one way or another? It's not nice, the worry.

good luck

I actually did not know it was possible to have odds as low as 1 in 27,000 ...... how on earth do they measure odds as tiny as that???????
anyway, I am 37 years old, and was told that my odds were 1:7000 which was as good as it could get for my age ...
Have not even contemplated amnio.
1:27,000 seems such a miniscule risk - really, do not worry!!!! xx

I wouldn't but then I don't see having a child with Down's syndrome as an issue.
Something else is more likely to be honest, like the 1 in 400 chnace of having a child with cerebral palsy.

that's true Riven, how ever many tests you have there is simply never any total guarentee that the baby will be 100% healthy.

At the risk of boring the rest of the thread to tears, I'm labouring the point because I'm interested: Why would a "mosaic DS" diagnosis be considered unreliable?

Amniocentesis looks at hundreds of cells. Some of them turn out to be DS, others normal, hence a diagnosis of mosaicism. It is the correct diagnosis.

That the condition itself has symptoms varying in severity does not mean the diagnosis was unreliable.

Surely, you see this.

cos you can have abnormal cells in the chorionic villi thingy that are not part of the baby. The baby may be free of whatever is in the abnormal cells.

I think you are completely missing my point.

If I was to have an invasive test the result I would be interested in was what effect the chromosomal rearrangement would have on my baby. I would give stuff what the actual name of the condition was or which chromosomes were involved or what it meant. I would want to know the effect on my baby.

I have seen people get results from CVS and amnio that have been unable to answer that question. So they get a result and a name but don't get told what it means for their baby (because they can't).

Most people don't have an invasive test to find out whether their baby has a chromosomal rearrangement called X. They have the test to find out whether their baby will be affected by a condition and if so how.

It is therefore worth knowing before you decide on an invasive test that you might not get that absolute answer. Because that might affect your decision. All the people I know who have come out with a name but no conclusive prognosis have said that they wished they hadn't had the test.

And yes SaintRiven that's true, although I suspect that's why cote limited her discussion to amnio.

When ds1 had his Frag X test, I didn't read up on the various different forms that the mutations can take (despite having spent too many years counting chromosomes down microscopes- so could potentially have had an interest) I read up on the phenotypic effects that Frag X can have and the prognosis.

That's my point. You don't always get the information you want from amnio or CVS. Which as I said initially isn't necessarily a reason not to have the test, but is worth considering before the test- especially with such good odds.

I was 41 with odds of 1:19 I personally decided on CVS. Think I would have been pretty happy with your results though!