amniocentesis

[Melly]

Hello everyone, hoping that some of you might be able to offer some advice or share your experiences on amnio. I am due to have one tomorrow and will be 16 and a bit weeks. I had an amnio when I was expecting my dd and thankfully all was well. This time round I seem to be even more scared, even though I know what to expect etc. Apart from the obvious worrying about the result, the thing that is worrying me is coping with my dd after the procedure. I've made arrangements for her to stay with relatives tomorrow and over night and will collect her on Friday pm which should give me a good chance to rest as they advise you to do. I'm wondering how long you are at risk after the procedure? DD is toddling now but still has to be picked up, carried up the stairs, lifted into her cot etc etc. Is there anything else I can do to minimise the risks? I am also getting myself into a complete state worrying about the result, which I know I have no control over, I was 37 when I conceived and am 38 now. Would be really grateful to hear from anyone.

Cadi - reading your post made me really happy! Jodiesmum - having a child with Downs Syndrome is not the end of the world! I hate to say this but I am saddened by the number of people who would choose to terminate their pregnancies because of positive tests for Downs Syndrome. My nephew has Downs and he also had a heart condition generated by the Syndrome, which meant he had to have heart surgery at 3 months. The doctors told my sister all the worst possible senarios; how backward he would be, how it could affect his health, how he might not survive, possible further brain damage. But he has just celebrated his first birthday, and though he is quite behind (not surprising since he spent 4 months in and out of hospital), he is bright, sitting up, rolling, smiling, gurgling, doing all the right responses! My sister didn't think she could cope with a child who had Downs, well who does? And it is hard work, but she is coping, marvellously, and he is very treasured indeed!

Many people have this narrow perception when it comes to Downs, they see the typical Downs features and presume many of them are brain damaged, which is simply not the case. Many children with Downs look perfectly ordinary, and the only outward sign of the Syndrome is a slowness in reading and writing. Ok, this is not every case, and the doctors do have to give the worst case scenarios. But children with Downs should not be condemned, they give so much joy and have so much life to live. So please, anyone who is thinking of terminating because of a postive test, I am not condemning your decison, but please do think again and contact the National Association for Downs Syndrome for impartial advice.

I hope I haven't offended anyone, I just could not stay silent for much longer! I'm speaking on behalf of my nephew and all those who have Downs Syndrome.

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After what happened to me this summer I now have a slightly different perspective on amniocentesis - before, my personal view was that I would never opt for it, as we would not terminate a pregnancy on the basis of a Down's diagnosis.
However, trying to find reasons why Tom might have died (pm was ultimately inconclusive), I read up on the other, much more life-threatening chromosomal abnormalities that an amnio can diagnose. Elliott is so right to highlight the value of amnio in identifying these. My cousin had an undiagnosed Edwards pregnancy some years ago and her labour, and the inevitable death of her baby at term, were very traumatic. I only found out about this because of my consultant's insistence that I ask her for details. Would it have been "kinder" to have terminated this pregnancy at 20 + weeks? For whom? Difficult questions I know, and I also know people who lost healthy babies as a result of an amnio, but I am now much more able to see why people have amnios and appreciate their availability. Trisomy disorders other than Down's can be absolutely devastating and as they are not THAT uncommon they should be more widely publicised.

I had amnio for my 4th pregnancy, when I was 41. My other children were then 10, 7 and 4 and I was quite sure that, as a family, a child with any kind of disability would have been a big problem. (Previous pregnancy, me 37, older kids 6 and 3, seemed a different situation altogether and we decided we could cope if the baby did have any problems so did not have any tests done.)

This meant disguising the symptoms of pregnancy I had for over half the pregnancy - I could tell my friends wondered what the hell I was playing at, when DS1 had just started school, and I was unencumbered, and should have been dashing about having fun, not lying on the sofa moaning all day. (Not that they knew that was what I was doing.)

Anyway we were lucky - or blessed or however else you would like to put it - DS2 had no chromosomal abnormalities. The 3/4 weeks waiting for the result were the longest I have ever experienced. I look at him now and try to imagine life without him, and can't, but had the diagnosis been different we too would have gone for a termination. Nobody else's experience can help anybody make that decision.

Im pretty new to mumsnet and hope you dont mind me putting in my thoughts but have just read jodiesmum message which was exactly the same dilemma I had in July after my Nuchal Scan as I am 39 now which made me a 1 in 255 risk (I had no.1 at age 36 and was 1 in 1280 risk then) that difference in age really plays havoc with the risk factor. I did no have an amnio for my first. I have had previous miscarriages before (in early pregnancy) so I have to admit we really did not know whether to go for the amnio like jodiesmum but eventually after weeks of yes/no changing our mind every day decided to go ahead. I was booked into Kings College at the Harris Birth Right Centre and went there in August. Professor Kypros Nicolaides did not perform the amnio so dont expect him to necessarily do it as there are too many women having so many different tests but he has the most fantastic team around him which I believe were picked by him and needless to say mostly Greek like him! A man called Anthony Abus (Greek not English!)performed my amnio. I agree with a previous posting that you can expect to wait a long time but when you are with the team they are thorough, professional very kind and answer any of your concerns fully. The team carry out an anomly scan (not sure if I spelt it right) something like the 20 week scan, but take much more time than your local hospital, take measurements etc then when they are happy and you are happy the specialist comes into the room to carry out the amnio (they did in my case) but the specialist may be with you from the start. I remember complaining to my husband when we were waiting to be called for our appointment to look at all those men walking around in shirt and ties doing nothing but not realising at the time that they are the top guys waiting to perform the tests after their teams had completed their work. The test was performed on a Monday and we had a result by Wednesday night which was negative in our case but finally put my mind at rest to enjoy the rest of the pregnancy rather than have a niggling doubt at the back of my mind as to whether things are ok. My mind was askew with statistics but feel better that I went ahead and to be honest felt if it was meant to be it would be. I am now 33 weeks and my real worry is how can I get a decent nights sleep without having to put up with carpal tunnel syndrome keeping me awake all night. Splints don't work nor do exercises and I now look like a zombie. Good luck jodiesmum in your decision but going to Kings College was a good decision.

Janh, that was kind of our position, too, when I had an amnio for No4. It wasn't the best of times esp as we'd had to tell folks I was pg because I was so poorly I'd disappeared from view. We'd sort of decided that we would terminate if there was a major problem but tbh, when the subject flitted across my mind I went into Scarlett O'Hara mode and "I'll think about that tomorrow."

One thing that I agonised over was that if there was a problem we felt we couldn't deal with, could/should I continue the pregnancy and have the baby adopted (accepting that we might fall in love with it at birth anyway)? But giving your baby for adoption doesn't seem to be socially acceptable nowadays, with connotations of abandoment, not caring etc.

Marina's absolutely right re: more publicity for other chromosomal abnormalities. She - and many others here on Mumsnet - were v supportive to me when I had a high risk of Edwards. To me a diagnosis of that (most babies only live a few days, those who do survive have a whole catalogue of problems including profound things wrong with their brains) would have only meant termination, I couldn't have lived with knowing my baby was going to die anyway for those last few months - but I know many women do. Edwards is the second commonest trisomy (where you have 3 of a chromosome, in this case no. 18), occuring in about 1/8000 births (Downs is more like 1/700) but I suspect many parents whose children die neonatally never get round to explaining to people exactly what happened.

Janh is absolutely right when she says that no-one else's experience can help anyone make a decision. Also, we might think we would do one thing and change our minds completely when faced with a different set of results or information. It is the horrible dilemma of having more knowledge means having more choices to make.

I heard that if you have high fertility late in life, that your likelihood of a baby with chromosone defects is reduced. In other words, if you know that late fertility runs in your family (it does in mine), and that in your late 30s/early 40s you are very likely to conceive quickly (as in 1-3 months, rather than the expected 9-18 months), that your real risk of chromosone defects is somewhat or even a lot lower than might be expected purely based on your age. Has anyone else heard that?

I wonder if this is something I should factor in if/when we have another baby, and whether we consider amnio.

Rhubarb - lovely to read about your precious Nephew and I'm so glad my story made you smile We actually felt a very strong feeling of loss when our DD was born without a chromosonal disorder, I had expected her to have special needs and I mourned that baby that wasn't whilst at the same time adoring the baby that was born.

I had a very moving experience when DD was a couple of years old, I met a woman whose DD looked incredibly alike mine. Her DD did have Downs and was a beautiful happy little girl with few health problems although her development was delayed - she had had no indication during the p/g that her child would be different so it had been a great shock to them. We watched our daughters play together and both of us were in tears, I felt that her DD should have been mine and her that mine should have been hers. It was one of those moments that I shall never forget and still brings me to tears now.

Zebra, that's interesting and I wouldn't be a bit surprised. It does seem people with high late fertility actually age slower than others. It goes with looking younger and living longer. Therefore it would make sense that your eggs were 'younger' than in another woman the same age. However, even if late fertility/menopause run in your family and even though the age you have your menopause is usually very similar to your mother's, you can't always be sure that you will inherit the right genes. So having a baby late in life (past 40) and the risks that go with that will always involve an element of good fortune. If we have another child I will opt for the other test, the name of which I can't remember owing to flu (choronic villus??) , which is done sampling the placenta at around 10weeks, as I think the idea of a later termination is horrible - not morally as much as physically and I'm sure I'd be the size of a house by 12 weeks and people would know I was p/g and I wouldn't like to explain about a late termination to all and sundry. My ex-GP who had a first child at 40 had this test and said it hurt but was worth it. I personally would not choose to have a Downs child. I know it sounds very hard, but we already have one child and we're not getting any younger and I feel it might damage our family.

Steady on, aloha, before you write me off to an early grave.... my family is very long-lived (3 grandparents lived to 90+) and my brothers and I are infamously baby faced. Fertility-wise, I seem to be an old crumbly - too late by the time I started ttc at 31.
But I think the issue about chromosomes and fertility is plausible - linked with ageing eggs - though I've never seen any research which would back it up. I wouldn't make any choices based on those assumptions though - as you say, you just can't tell what life has dealt you. No-one in my family has ever had problems having babies in their 30s. (oops, I'm talking myself into that early grave I think!)

Sorry Elliot! It's just a theory that seems to generally hold true (couple of studies and anecdotal evidence). Of course, it won't apply to everyone. You'll outlive us all, I expect. BTW, can I be really nosy and ask why it was 'too late' for you? It sounds incredibly young to me. Mind you my cleaning lady had her menopause at 35.

Sorry Elliot! It's just a theory that seems to generally hold true (couple of studies and anecdotal evidence). Of course, it won't apply to everyone. You'll outlive us all, I expect. BTW, can I be really nosy and ask why it was 'too late' for you? It sounds incredibly young to me. Mind you my cleaning lady had her menopause at 35.

I'm not saying that Amnio's are a bad thing, but I do think it sad that if a baby is confirmed to have such a disorder as Downs Syndrome, then that pregnancy is often terminated, and I wonder if this could be due to stereotypes about the condition? There was a wonderful documentary on last night called 'Fighting for Danny' about a little boy with Downs Syndrome. His parents were rich and the baby was their first, the dad was hoping for a perfect son to inherit the business, so when their baby was diagnosed with Downs shortly after birth, his first reaction was to reject him completely. I found it really moving when he said "If we had known Danny had Downs Syndrome before birth, we would have terminated the pregnancy, 100%, we didn't want the struggles we knew we would have with a child who had learning difficulties, but then if we had done that we would have missed out on Danny."

Yes they are hard work, and a worry, but the wonderful thing about children with learning difficulties is their openess and honesty. They are never afraid to show their emotions, and the love they give is pure and without conditions. They really do help you to see life in a totally different way, and all the parents I know who have such children, never ever regret having them. They talk instead about how they have transformed their lives and made them better people. We all strive for perfect babies, but sometimes I wonder if it is we who are imperfect.

When I was pregnant my scan showed that my baby might be at risk from Edwards syndrome too. I was under 30 so they didn't automatically offer me an amnio, but I knew it was there if I wanted one. I chose not to for my own reasons and thankfully she was just fine. But Edwards syndrome is fatal in any case, so that is a very difficult choice to make.

Anyway, thanks for listening to my views. I understand that many people won't necessarily agree with them, and some mothers may have terminated their pregnancies because of positive results on the amnio's. I don't wish to offend any of these, I respect their decision. I'd just like to change the way people see children and adults with learning difficulties.

Rhubarb, I don't think stereotypes is really the word.

Realistically, Downs children (and others with similar problems) need far more attention and supervision than normal (not perfect) children. There were two aspects to our decision - had we had to make it - the fact that we would have had much less time and attention available for the 3 children we already had (even if it was a child with mild symptoms) and to us their welfare came first; and that a child like this is for life, not just for childhood. When we were 70 we would still be responsible for a 30-year-old child.

As aloha said, it does sound hard. No excuses.

too late because I couldn't get pregnant! No particular reason identified, but when I had ivf the eggs I produced were mainly poor quality, so I suspect my problem could be that my eggs are old before their time. I'm not menopausal yet though
Of course it came as a dreadful shock, I thought 31 was a pretty reasonable age to be starting out too,and was confident that it would all happen straight away.

Now heading that way again to see if we can hit lucky with another one.

Do you have any references to the studies about fertility and chromosomal probs? Would be of more than theoretical interest!

I see where you're coming from, Rhubarb. I think we also have an odd situation in society today. On the one hand great efforts have been made in recent years to be inclusive towards those who have learning difficulties, are disabled, whatever term we like to use, while on the other hand we now expect, and some feel it's almost a right, to have a perfect baby who would never need those facilities. It's like we're saying that yes, it's okay to be disabled/special needs but it would be better if those people weren't born in the first place.

Part of the thinking that I did before I had an amnio with my second pregnancy was that if I were to have a child with Down's I would be making a decision for me, Dh and most importantly for Dd. She would be left with the responsibility after I died. Having a first child who had Downs would have been a different thing to me than having a second for that reason.

But this is a very, very personal decision, and people make the choices that are best for them.

I don't know about the risk of chromosomal abnormalities v being able to conceive later on in life...but a big centenarians project in the States has shown that women who go on to have children late on ie in their 40s are more likely to live to a hundred. I suppose it makes sense if everything is in good working order, you're more likely to be fit/healthy for longer generally too.

Actually I do have some experience of children with learning difficulties as my mother is a teacher and has worked in a children's home and in a school for children with learning difficulties and I have helped at both in the past. I agree that personality is completely separate from intelligence, and charm and sweetness etc are certainly not the prerogative of those without learning difficulties. I do not agree however,that children with learning difficulties are invariably blessed with particularly beautiful or saintly natures. I wonder if that might be a bit of a stereotype too? I'm sure if I did have a child with Downs or another problem I would love him or her passionately. However, I also know that given the choice, I would terminate the pregnancy. It sounds hard but I know I can't be alone in this - after all, what else are all those tests for? I think there is a difference between how we react to people once they are here and whether we actively want to have disabled children ourselves. For example, curing the diseases that lead to deafness, say, doesn't mean we think deaf children are inferior.

ps Elliott, I recently interviewd a lot of fertility specialists and did quite a bit of research into fertility, and they seemed to agree the vast majority of fertility problems are not to do with age at all, but would have existed whenever the person started trying. They see a lot of women convinced it is their 'fault' because they've left it too late (I'm talking about women in their 30s here) but that's not usually the case. Obviously that doesn't apply to everyone. For allthe scare stories though, 70% of women can still concieve at the age of 40, and of the 30% that can't, a significant number - up to 10% might not have been able to concieve whenever they tried!

Ah but Aloha, I never said that children with special needs did not have tantrums! They are not 'saintly' at all! I have a brother who has severe learning difficulties, he is the youngest of 6 children. He is very hard work, he throws tantrums, he swears, he has a short attention span, he get jealous, and he is also a big strapping 25 year old. So I know well of the problems that arise. However I would not swap him for the world! He will hug anyone and everyone, says hello to complete strangers and within a week he knows more people in my town than I do! Everyone likes him who comes into contact with him, there is just something about him. When my mother dies, a decision will have to be made. But we will hit that problem when it happens. You cannot look to the future like that, what if a "normal" child got ill and suffered brain damage? Or was left physically disabled? Lots of things can happen in the future, and I don't think it's fair to condemn a child just because you don't know what will happen in the future - who does?

Yes, these tests are often there to detect such adnormalities and give parents a choice, to either continue with the pregnancy knowing they have a child who has a "defect" (what a horrible word!) or to terminate that child's life. Well all I can say is that the ones who did not know, and who went on to have children with special needs, all have said they probably would have terminated if they had known, but now it has happened it has changed their lives for the better and they would never, ever go back, no matter how hard it is, no matter what the worries are for the future, there are no regrets. Yes, the ones who did know and did terminate, I'm sure they have no regrets either. But can you imagine a world where every child is perfect? There are no special needs? I can think of nothing sadder. I think sometimes we are missing the point.

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No-one has mentioned adoption. For those who really don't want to bring up a disabled child (and I know this sounds harsh and unrealistic) but they can give the child to someone who does. I for one would happily adopt a disabled child, and I know people who are in the process of being vetoed by the adoption agencies, to adopt children with special needs. There is always a solution. I don't which is the better one, and I don't want to appear judgemental, I just want to let people know that it is much more than black and white.