anyone had an amnio and can give advice?

[wendyredhead]

I've decided, because of my age, to skip the tests and just go for an amnio and hope for the best. Just wondered about any personal experiences you might have had.

FioFio: are you saying you had an amnio and your daughter's condition wasn't picked up? You said she had "every test known to man" but I wasn't sure what you meant, excuse my ignorance!

wendy- most of the conditions that have a specific genetic test available will not be observable on a scan or via a standard blood test at all. you would need to know you were high risk (e/g in fio's case). I think its unlikely they'll test for many because of the cost.

EColi: no, I'm not in London. Seems a chat with my m/w on this whole area would be a good idea.

I may be wrong, but as I understand it your age puts you at risk of having a Downs Syndrome baby so that's the thing to worry about unless you know of any other conditions in your family. I saw a genetisist in Paris before I had my amnio and the first thing she did was a family tree of both sides to see if there were any known problems on either side. I don't think being 43 means there is a greater risk of any of these conditions so I wouldn't worry about that any more than any other pregnant woman would.

Sorry, forgot to add it's reassurring to know your OB has lots of experience with amnios so if you are worried about the risk of miscarriage see if you can find out the specific record ofthe person who is carrying out the test (rather than worrying about vague statistics).

Haven't read the entire thread, but I went straight to amnio without blood/ultrasound measurements as I wanted a diagnostic test, not a screening test. I chose my consultant on the basis of his reputation in amniocentesis, and spoke directly to staff at the laboratory to tell them which genes I wanted them to look at and for what. They made phone calls on my behalf to other international labs to check on some details. All on the NHS. Yes, it can be done, and yes you can check for more than just the four or five main defects.

I had a CVS in this pg mainly for definitive answer on Downs due to age (36) but I also had the nuchal scan and blood test (though after the CVS bizarrely) as I reasoned that the more people who look at my baby at a scan or in any other way, diagnostic or screening, the more likely they would be to see anything abnormal. To be fair I am in London where you can get all of this on the NHS. They tested for all the major ones noted and the common form of CF. This was enough for me as I had no risk factors other than age for Downs which was my primary concern. Personally I would look at a CVS instead of amnio if you do think you would terminate in any circumstances as it is done earlier which I feel is better and less traumatic. I think it would probably be worth paying for a nuchal as well as the cvs/amnio - though maybe not the blood tests. Remember scans can also pick up other types of congenital problems that may not be genetic, or not from a well established genetic cause. Wouldn't you be offered a nuchal on the NHS because of your age? Good luck.

"FioFio: are you saying you had an amnio and your daughter's condition wasn't picked up? You said she had "every test known to man" but I wasn't sure what you meant, excuse my ignorance!"
WendyRedhead - the point is that amnio as a diagnostic test can onl;y detect any condition related to certain chromosomal conditions (I think) and there are many, many other causes of various disabilities and conditions which don't show up in amnio.

DS has a congenital limb abnormality 9that's it's rather vague medical term!) which did, as it happens, partially show up on the 20 week anomaly scan - but would not have shown on amnio or cvs. And as Gess says, may neurological conditions will not be detectable at all.

There is no such thing as a complete and final answer in planning a baby, it seems - but I was 43 when I had DS, his leg is not, according to all the consultants I have spoken to, connected to my age, and I thnk you have to test for the things that can be tested for and which would be important for you to know, if that is your personal chpice, and relax, and enjoy your pregnancy for the rest. Congratulations on your pregnancy.

at all the folks whose primary concern is Down's syndrome. Down's syndrome is a walk in the park (albeit a slow stroll rather than a jog!) compared to so many other disabilities.

I agree with Barbamama. Because the 20 week scan found DS's leg, they said that could be a 'soft marker' for any number of non-viable trisomies, and i had amnio. It was really really stressful. By then I could feel the baby move, was watching him and feeling him, talking to him, had a very visible public bump. I swore to myself that were I to have another baby, if i was to have an invasive diagnostic test at all (and actually, I think now i would not) I would have CVS much earlier in the pregnancy.

Geekgirl - yes indeed!

Fio, I really don't think the poster was trying to be rude or anything. She was, I think, just agreeing that whatever caused your daughter's special needs, it couldn't be picked up by any sort of antenatal testing (cvs, scanning or amnio).
It is true that many things cannot be detected - autism, for example. But if you are worried about genetic abnormalities, and at 43, it is a reasonable concern, then an amnio can at least rule out the most common.

I chose not to have an amnio at 40 btw. If I had had an invasive test, I would have had cvs at 12 weeks.

Surely people focus on DS because

1. it is more common that other conditions (seem to remember that it is the most common reason for developmental delay)
2. There are tests to determine if mums are at high risk of having a child with DS (Apart from conditions like CF where there are recessive genes and risk might be high due to a family history I can't think of any others that seem to be anything other than random).
3. There is a diagnostic test offered pre-natally (again..testing can be arranged for other conditions if there is a family history but I guess in families who have a family history they worry more about their risk of that than their risk of DS)

I think that prenatal testing is giving people a choice about whether they want to raise a child with DS but it doesn't negate the lovely children with DS that have been born and are loved by their families (and by others they meet).

Think I'm going to have to PARP from this thread now as it seems to have diverted away from support for wendy and more into some form of attack

Am with you, geekgirl.

I'm sure you are right, Geekgirl, but the original post was about having an amnio at the age of 43 (which would usually be advised because there is a higher risk of Downs in older mothers). Obviously noone can give you an iron clad guarantee that your baby is going to be OK, but I don't see anything wrong in finding out as much as you can and I really don't think you need people queuing up to tell you all the terrible things that might happen when you are eight weeeks pregnant.

I agree LilianGish

geekgirl - noone is saying that Downs is the most awful condition possible - obviously it is not as it is not life threatening when many other conditions are. But that is no reason to belittle people who choose to screen for it. It is just one thing that can be age related that some people choose to rule out - noone is saying that that and the few others they test for then guarantees you a baby with absolutely no issues at all - in fact that is why most people were advising the OP to also have all the scans as some other conditions might be picked up there. And yet still others clearly wouldn't be until after birth as people here have found out and common sense dictates. It is still reassuring for some to rule out some of the most common.

Invasive testing isn't without risk though is it? And it isn't a cast iron guarantee of a 'perfect' baby. It's why I pointed that out earlier - amnio doesn't tell you "this baby is 100% OK" - it just tells you the baby doesn't have condition x, y & z. I really think amnios should go with genetic counselling tbh because it does carry a risk (albeit small). You need to understand what it will and won't tell you surely before exposing your baby to that risk? (I think screening should go with more counselling than it currently does as well- although genetic would obviously be unrealistic- just seen mess after mess from screening leading to highly anxious pregnancies- had screening myself btw so not being anti it).

Indeed. When I had my CVS at the Harris Birthright at Kings it was explained in great depth exactly what genetic conditions were being tested for, precisely what the risks were, and the fact that they would only be able to rule out the conditions that came from the genes they were testing for. I understood that perfectly. That is why I still attended my 20 week scan. Noone is naive enough to think that any kind of test guarantees a perfect baby surely? Anyone with any grasp of genetics knows that a perfect human being doesn't exist - we all have some undesirable genes or genetic combinations. We are talking about ruling out a tiny subset of single gene disorders that lead to particular disabilities or life threatening conditions. I can't really see why that is controversial since noone is forced to do it.

well earlier testing for 'lots and lots of things besides Downs'" was mentioned. I joined the dicussion to point out that that's not true.

FWIW gess I didn't have a problem with your posts as wendy did ask 'whether they test for other disablilities as well as Downs'.

Personally I think that the counselling doesn't happen soon enough on the 'testing conveyor belt' - people who opt for invasive testing may be told what can/cannot be picked up but I didn't get any discussion about having the blood tests during my pregnancy - no 'if you don't want to continue to have further testing in the event of a high risk result then it's a good idea not to have the blood test in the first place.' I made a request to have the AFP measured for Neural tube defects (since I would not terminate a pg for DS but might do for anencephaly or similar) but they tested for DS risk anyway - then had to spend rest of pg knowing that I was high risk for DS (which I could have done without knowing!)

Is this your first baby Wendy?