Amnio Testing - need some advice....

[Sine]

Hi, this is my first posting to Mumsnet so if it doesn't come out right I apologise!!! I've just had confirmation that I am 12wks. I already have a son of 6 (born by IVF) and two further attempts at IVF 3 - 4yrs ago. This pregnancy is one of those 'miracles' in that my insides are a bit like spaghetti junction so natural conception was a no-no (or so we thought!) Anyway as I will be 40 when this baby is born I've been told that my baby runs the risk of Downs Syndrome. I know the decision of have an amnio can only be made by me and my hubby but I wanted to know if anyone can tell me from firsthand what it's like. Also, I know there is a risk of miscarriage and as this baby is a very welcome 'surprise' I would be devestated if I miscarried a healthy baby due to this test. My health authority is apparently the only one in the country that doesn't offer routine scanning at 20wks so my options appear to be slim. I had a scan at 8wks but have only just been told about Nuchal screening which I'm too late for. Does anyone have any advice or comments? Would love to hear from you. Thanks :)

can't comment on the amnio, but I thought nucal scan could be done up to 13 weeks? someone with more knowledge will come along soon. Congrats by the way

nuchal screenings is possible up to 13 weeks definitely so you are not too late

just checked - nuchal can be done up to 13+6 - so you have time

Congratulations and welcome to MN, could you get the nuchal scan done privately or transfer your care to a hospital that does offer it - you can choose to have your baby any where that you want and I was going to have all my anti natel care done at a hospital futher away cause they did offer the 20 week scan and the one at the bottom of my garden doesn't.

PS if you have planning on being on MN for a while feel free to join us on the Due in Nov ante natal thread - but actually you're probably due in Oct thinking about it. I'm due 3rd Nov :)

Congratulations! I'm also 40 and 11 weeks pregnant, and so have been looking at all of this too.

It's not a given that you'd need an amnio, if you can get the nuchal done and the results are good, so that might be your first step. Our area also doesn't do this automatically, so I'm going to the Fetal Medicine Centre in London to get a nuchal scan. They are the leaders in the field (do a search on them on Mumsnet, that's what persuaded me). I would think they'd be able to fit you in before 13+6.

I've also gone to them because they have the best record in CVS/amnio and we're prepared to pay for that. BUT, as everyone here always says, you need to decide what you would do if the test came up positive. If you wouldn't terminate, then there is no point having an amnio.

Hope this helps - I know it's all very tricky - I'm also ambivalent having had a miscarriage in the past, but I also don't want to worry my way through this entire pregnancy, which I am more than capable of doing.

Hi Sine

Massive congratulations on your pregnancy

So, down to it. Why have you been told your baby runs the risks of having Down's syndrome? What makes anyone think that? Just your age or did you have a nuchal that showed a large amount of amniotic fluid?

I think what you have to ask yourseelf here is not so much what will an amnio be like, but more what you would do with the results. If the prospect of having a child with Down's syndrome doesn't faze you, and we'll talk more about that in a mo, and you want this 'miracle' baby, no matter what then is a amnio and it's risks really worth it? If you would terminate this pregancy if the amnio showed that your child does in fact have DS then I would say you need to know and you have to go for it.

If it's all about preparing yourself, just so you know, well, I understand that, but how much can you really prepare yourself, for any child, special needs or not?

Each child is so different, so unique and that goes for children with Down's syndrome too.

All I can really say to you is that I have a 4 year old with Down's syndrome and I'm so, so glad that I didn't have any tests and didn'y know and just enjoyed my pregnancy and have my amazing daughter to enjoy now.

My friends were over on Sunday and they haven't seen my DD for a while and they rang today purely just to tell me how wonderful they thought she was. How strong, colourful and fun her personality was. It's not all easy or pain free etc, but it's always, always rewarding. At the end of the day she's my daughter and I love her, unconditionally. So she has Down's syndrome. so what? Could be a lot bloody worse!

Have a think about what it would mena to you and how it would effect you and your family and come back, if you like, and let's talk more. Feel free to ask me anything, and I mean anything and I'll answer you honestly. This is important and I'm here to help.

For now I'll end by saying that I'm very lucky to have my daughter and there's nothing I'd change about her, she's perfect and thank God for her.

welcome love! i was only 28 when i had a high risk triple test, and with SIL DS i knew the commitment involved. My test results were 1/150, but risk of miscarriage was 1/100 from amnio, and we'd been trying for baby for 3ys. We decided to carry on without the amnio as we were more likely to lose the baby rather than it have DS... does that make sense??? Hope it helps. I put the test results to the back of my mind and enjoyed my pregnancy. I'm sure you'll make the right decision x

Oh and by the way my first pregnancy - I was 30yrs, put in low risk and my daughter was born with Down's syndrome. 2nd pregnancy a few years later, was put in high risk, put through hell of a worrying awful time and my 2nd daughter was born without DS.

i can only share my story - I have a 3 1/2 yo with down syndrome - we knew she would have this prior to birth due to a cardiac condition they picked up at the 20 week scan.... it is very unusual for children with this cardiac condition to be born without down syndrome. As we knew before the fetal cardiac scan that we would have this baby no matter what then the option of an amnio was irrelevant. This was our babe and she would be born. ( originally we were told she had a different heart defect with a less positive prognosis)

So I think you need to decide what you hope to benefit from having an amnio. If you could not have a child with down syndrome and would terminate then I guess the choice is made - if you would have the baby regardless then why put yourself through an amnio.

Would it not be possible to ask for a 20 week scan as you are considered to be an 'older' mum and more at risk of having a child with some form of special needs....Perhaps your GP could refer you for the 20 week scan if you discussed your concerns with them... then there is time for the decision for an amnio.

BTW I was only 33 when I had my eldest daughter.

Wow! You've all been really great - I never expected such a response. Thank you very much for all your 'wise words', it's given me a lot to think about. We live in the Highlands and having done a search on the Net the only hospital in Scotland doing Nuchal scanning is in Glasgow however, they say this is only 85% accurate so, in theory could miss 15%. I asked Raigmore (local hosp) if I could have a scan instead and they said that as they don't routinely do 20wk scans I would only be offered if I refused amnio. Next question was - if I refused amnio, had scan and anomally showed could I then have amnio they said no as it would be too late. I have to say this time round they are not as friendly and helpful as the first or perhaps it's just me!! I take your comments about would I terminate the baby if I knew it was Downs but at the moment I'm thinking - if I had the amnio, how would I feel if I miscarried what turned about to be a perfectly healthy baby as opposed to how would I feel if my baby was born with Downs (are you all keeping up with me - I've been awake half the night worrying about this and I'm not sure I'm talking sense any more!). Hubby thinks we should go for the amnio because then we'll know for sure - his take on it is slightly different to mine (it was the midwife that planted this thought...)his concern is, if we did have a downs child, who would have responsibility for him/her when we're no longer around (I think he's a bit premature we're only 40 & 45 after all!). He thinks it unfair to expect our son to take resonsibility over something that he's not had a choice in.

I think I'm in danger of getting a bit too deep here (if I haven't done already!) so I'm going to switch my brain off for a while, have a cup of tea and then enjoy a play day with my son as we're back to school next week :o

my dh was 40 and as I said I was 34 when dd1 was born .... there are a number of adults with down syndrome who live generally independent lives with just someone to pop in and help out now and then.

In terms of statistics ( the latest stuff I have read) - the general miscarriage rate with amnios is 1 in 100 - of that 1 % - 3/4 of that 1 % were babies who had no sn. Not trying to frighten you - just giving you the statistics.

Could you not have the scan first and then if anything was raised - pay for an amnio privately if possible.... 20 weeks is not too late - I did not have my fetal cardiac scan until 23 weeks - and they offered me an amnio at that stage.

Just an aside - it is more appropriate to refer to people etc with down syndrome as - eg a person with down syndrome not as downs or a downs person - simply because they are people or babies or children who just happen to have down syndrome - they are far more than that.

We have two children - a second daughter born when our eldest was 2 and a bit - there is no expectation that dd2 will need to 'look after' dd1 but she may be okay with being appointed in a legal guardianship as a means of protection rather than a carer/parental role should we not be around.

Within our association here in Aus - there are two young couples with down syndrome who have recently married - they have someone who visits once a week to help with budgeting/legal stuff etc - otherwise they live independent lives just like their peers - they all work, socialise etc. Such an inspiration for us to see.

BUT As you have said - it is up to you and your husband to decide what is best for your family. For our family - dd1 is a valuable member who has enriched our lives in ways we could never had imagined before she was born.

So - there you have it - a little glimpse of my story.

Hi, I'm new to Mumsnet so forgive me for chipping in, as i'm a first time expectant mum and know nothing! However, I have been thinking about the 'Downs' issue and always have, as i have an older brother who is severely handicapped by the syndrome, to the extent of being disruptive, loud and aggressive. He is an unusual case, I'm not trying to frighten you, just to explain that even before I conceived this has always been on my mind and has haunted me all my life. However, i have done some tremendous heart searching and I've decided to have no tests at all. I am a healthy, successful person yet my mother never loved me and never considered me to be 'good enough'. I've decided to love this baby unconditionally and not to repeat her mistake in demanding to myself that I have a 'perfect' child, however 'perfect' is constructed. For myself, i never want to make anyone else feel the way i've always felt about myself. Why should a person with Downs syndrome think themselves to be anything but exactly as they should be, unless their mum makes them feel unwanted and deficient? This is purely personal and I'm just explaining how I have come to a place of inner acceptance. For me, I have to give up needing to 'control' the outcome, because if I don't get off this track then i'll probably want to control the outcome of a whole lot more things in my child's life as it grows up. It is tremendously hard but in the end it leads to a sort of freedom, to let what will be, be. Just my insight on the matter, every one's situtation is different.
All the best.

What about having tripe bloods done? I had an amnio, and was told by the consultant that he could do tripe bloods instead (less conclusive than the amnio, but they give you your % - and are apparently more effective in women over 35) - obviously less intrusive too..

LaGuanaca - how old is your brother - it saddens me when I read the stories of older people with downs syndrome and how much they missed out on from lack of early intervention etc. My daughter has speech therapy, physio and ot and is doing really well. She attends a mainstream kindergarten as well as a sn kindy - she is doing great but you know not that long ago the opportunities and support through therapy etc just weren't available - which is terribly sad.

you really need triple blood test and the nuchal fold to get any real indication of your risk - see \link{http://www.mumsnet.com/Talk?topicid=49&threadid=160787&stamp=060409085034\triple test} check out message from cool mama re triple test.

Hi Sine, hope you are feeling ok today. I understand your husbands worries, the future is scary. But isn't it for all parents anyway. Who knows what tomorrow will bring, for any of us and our children. There are no guarantees in this life in that respect. All I can say is that many more adults with Down syndrome are obtaining work, living independently, finding partners and marrying. The support that they need to achieve an ordinary adult life will vary. Some will need only minimal support from friends, neighbours and family (like the rest of the adult community) and some will need the full-time support of workers in disability services.

amnio isn't just for Down Syndrome, it can detect other trisomies too: I had a high risk of Edwards Syndrome (which is incompatible with life like Patau's syndrome) which was ruled out by an amnio. if you do go eg for the triple blood test, decide before you have it what you would do if get a "bad" result (ie have an amnio or not).

Eidsvold - my brother is 38, I'm 36. Your comment was actually very comforting, it probably explains a lot. There was no help whatsoever, i suspect that my mother was deeply depressed by the whole experience and decided not to 'bond' with me in utero in case I wasn't 'right' either. Indeed, my brother can't speak, just grunt, and that probably leads to the frustration that makes him aggressive. Doubtless early intervention with speech therapy etc would have made a huge difference to his and our lives. I'm feeling a bit more hopeful for the future now!

check what your hospital's miss rate for nuchal fold scanning is. My hospital very much pushed their 80% detection rate. Missing 20% with no other screening tests offered to me was unacceptable. Fortunately I'm old enough to demand an amnio - their miscarriage rate is lower than my risk of Down's.

Amnios are very, very useful. However, although they are the gold standard for detection of chromosomal abnormalities, they tell us nothing about the penetration of a genetic defect. In other words, you don't know whther the foetus will have a mild or severe phenotype.

Bundle: Do you remember what your #s were for your risk of Edward's and Pat. Syndromes were??? I just got word last week that I was 1/120 chance for having these trisomies as well. I'm almost 14 weeks with my 3rd child and I'm 36...I feel that I'm fine since the ultrasound looked perfect and the downs came back 1/4,000...but the other trisomy the nuchal test said I'm at risk for. How much of this test is about AGE??? Also, I'm schelduled for an amnio May 1st and I'm extremely anxious to do it, but if I have this rare trisomy the baby will not live anyway and I can not do that to my family or my 2 little girls (6 and 4) so I feel I have to know with this syndrome and have the amnio. What do you think??????????

syd1999, i had a much higher risk than you, i can't remember precisely but it was something along the lines of 1/30, enough for the genetic counsellor to say they'd normally recommend an amnio for those kind of numbers. i too had a good scan (at the amnio - nice fingers & toes, which usually cross over in affected babies) but still felt that i had to go through with the amnio because i too couldn't face delivering a baby who was going to die (a friend had an undiagnosed edwards baby, who died when he was 3 days old, it was absolutely devastating for them). i had low risk for patau's (and spina bifida, down's)

(syd, i was 38 when i had dd2, & the Edwards scare. I do hope things are ok for you, xxx)

Hi there I was 25 when I had my ds we had a result for downs come back at 1/100 chance I did have the amnio as we would have terminated if our little boy had been downs that was our choice and for all those who have a child whois downs I have the upmost respect for you. It wasnt a very nice it did hurt a bit and the waiting for the resuls was awful but in my opinion it was worth it. Good luck with whatever you decision may be.