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dtmum 
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 Topic: testing for down syndrome?
Posted: 22 December 2007 at 7:58pm |
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yes its me again, in 3 weeks I will be going for my 12 week scan and I was asked by my doctor to think about the test they do to measure the back of the neck to see how high you are at risk, then she said if you are at high risk you should do the next test (amnio....) but that it posed a risk of miscarriage?
Then she told me that she knew of people who were told they were at low risk and had kids with downs anyway, what do you do?
do you do nothing at all, or is the first test good enough?
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kebakat
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Posted: 22 December 2007 at 8:04pm |
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I didn't do anything. I had my scan and that was it.
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Mum2ET
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Posted: 22 December 2007 at 8:13pm |
When I had my 12 week scan, it came back with a very,very,very low chance so there was no need to do the test. I personally won't do the 2nd test, unless the probability was quite high.
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Snickerdoodle
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Posted: 22 December 2007 at 8:15pm |
My 12 week nuchal scan was fine.
But if we were presented with the possibility of a downs baby we would've skipped the amnio and just dealt with whatever happened when baby was born.
There are no certainties in life, but there are options out there to prepare yourself as much as possible. I believe it's up to the individual to decide what's best.
Good luck 
(in regards to your other thread, I hope the ms goes away soon too!)
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11111
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Posted: 22 December 2007 at 8:19pm |
I was shocked my M/W offered me the 12 week scan csue she said now I am a little older then before(only 26)I can have it for us we not even going to bother with the scan to be honest other then getting a sneaky peak at baby there is no point even if we came back with very high chances of down's we would not go on to hae the second test cause it is way too risky to baby and we will be happy with however our baby as lon as he/she is healthy we can deal with downs. 
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Mazzy
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Posted: 22 December 2007 at 8:26pm |
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We did the 12 week scan with DD because I have a cousin with downs. The risk came back really low and I have no other risk factors (age etc.). If it had come back high we wouldn't have done the amnio because of the risk, just taken the high probability that the baby would be downs and prepared ourselves for that.
With this baby we skipped the 12 week scan, figured the risk would be low again and that the baby could be born with anything 'wrong', plus if the risk came back high we knew we wouldn't get the amnio so preferred not to know that it had a higher chance of happening, if that makes sense? Purely our decision - it has to be something you and your partner decide is right for you.
Edited to add reasoning that I forgot before!
Edited by Mazzy
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AnnC
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Posted: 22 December 2007 at 8:32pm |
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dtmum - was it advised because of age? downs in the family etc???
I guess its up to you - thought would be - if I knew the baby had downs before it was born would I still have it? Personal choice there, I don't think i could have a downs kid BUT I have never had to face the proberbility so wouldn't know what I would really do in that situation. I hope I never have to make that decision either
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ElfsMum
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Posted: 22 December 2007 at 8:43pm |
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I have done thought a lot about this as my brother has a super super rare disability and we were going to have to do CVS..even more invasive than an amnio..amnio carries 1/200 risk of miscarriage..it does happy but rarely apparently( i know of one person who had it done and the baby was healthy but died) and a few people who had it done and everything was fine..
for me I had a missed m/c at 12 weeks so i had the scan..my nuchal fold was 2.2 (which is fine) I'm 30 so my risk was 1:1276. Which are odds we can live with and they generally(but not always pick up soft markers(things that can mean downs) on the next scan...
having said that I have had extensive dealings with Down Syndrome people so could deal with a Downs baby so if we turn out to be the 1:1276 then we will deal with that....if i were you I would have the scan and then results may be perfectly fine meaning you won't even have to think about an amnio..if your risk comes back worse than 1:250 they suggest you get one done (they measure then do some calculation with your age and get the number from there.
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CuriousG
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Posted: 22 December 2007 at 10:04pm |
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I guess its up to you and how you feel about having a baby with downs. I was only 25 when I went for the usual scan and was devastated when the results came back at a 1/55 chance. We opted for a CVS which carries a risk of m/c of 1/100 but for us, and our circumstances, we actually didn't want a baby with downs.
Everyone is different and its going to depend on your results as to what you decide to do - if you want to carry on the pregnancy no matter what the scan result is then there is no point in doing a barrage of other tests unless you want to confirm either way what you are up for.
And not trying to put a downer on it but even if you get a result such as 1/1250 etc, someone has to be that one.
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ElfsMum
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Posted: 23 December 2007 at 8:12am |
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yes i realise that..that's what i said..we are quite prepared to be that 1:1276...i think its a lot about personal choice.. and for us a child with Downs is ok... so we are prepared to take that risk..esp after seeing what happened to my friend who lost their baby through amnio..but on the whole the vast majority go through amnio and are fine.. I'm just saying they generally do pick up soft markers at 19 weeks scans about downs as well.
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Jennz
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Posted: 23 December 2007 at 8:40am |
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Like the others have said I think this is a really personal decision. We had the nuchal scan just because we wanted another chance to see bubs on screen! If the odds had of come back quite high for us we just would have left it there as we wouldn't abort a baby with downs anyway. I guess its weighing up your need to know vs the risk of losing the baby.
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Bumble
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Posted: 23 December 2007 at 9:44am |
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I will be having the Nuchal Fold scan. This has been suggested as I am 31.
I mainly agreed as I want to see bubs at 12wks!!!!
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kezplanet
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Posted: 23 December 2007 at 10:27am |
parts of this may sound cold & uncaring to some but its the thought process that we had to go thru
I also was offered this scan at 12 weeks for my last preg (mc) and had had a good talk with Karl and my mum about this. I know others that have had amnio's without probs & I know there is a risk of mc.
For me it was important to have made my decision before having scans, I was 37 at the time, we have two beautiful, healthy girls, we don't have a lot of help, I have my parents but they both have health issues and are getting older.
Our decision was to have the 12wk scan, if results came back with more than a low risk to have amnio, if this came back positive or with other major health issues we would have opted to not have this baby. We felt it wouldn't have been fair as a family unit to bring in someone that was going to need alot of extra time and attention that would impact largely on our existing unit. Also to bring a 'extra needy child' into my life at the moment I'm not sure I could have given it all the love and care that would be needed, I have had depression issues already & I hate the thought that I may regret my decision to have a child that needed me more and not be able to deliver. If this had been my 1st child the story would have read very different, but this is our family at the moment & I have to do what is right for us and for a child coming into our family. As it turned out the decision was made for me & I didn't have to go thru this emotional rollercoaster ride.
I'm sorry for the loooooong post but this is the process that I/we went thru. ultimatly the decision is yours but I think it helps to have an idea which way you would go before you have the scan. If you would have baby either way then have the scan only for the chance to have a peek at your little bundle. Also talk to your partner, parents, friends - to make the final decision is sometimes very hard by yourself.
Good luck!!
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AnnC
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Posted: 23 December 2007 at 10:45am |
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kezplanet I agree with you - oh horrible it may sound.. but as i said earlier I have not been faced with the decision so not totally sure exactly what I would do IF it ever happened.
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Ann
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Rachael21
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Posted: 23 December 2007 at 1:15pm |
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I had the scan both times just so I could see bubs. I personally only would of had the amnio if my risk was higher than the risk of losing the baby from it if that makes sense.
My Aunty was pregnant with a downs baby and chose not to have it and my other aunty had a baby with kleinfelters (where they have XXY or XYY or something like that) so I have a family history of chromosonal disorders but my risk came back quite low.
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ElfsMum
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Posted: 23 December 2007 at 2:07pm |
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of course it pays to have thought long and hard before you have it done.. eventually they will probably bring in the blood test at the same time where that is done in most other countries and it's more accurate.. i guess i always worry that people who don't want a downs baby..what happens if you are that one in how ever many that does end up with a disabled baby?
I don't judge anyone for it.. i have a disabled(physically) brother so i probably think differently from most..however my Mum would not choose to have another disabled baby so we are all different:) as has been said..it's what's right for you and your family..a great majority like to have the scan just to see that bean jumping around...or in my case because that's when i found out bubs had died last time and I needed it for sanity.
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Maya
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Posted: 23 December 2007 at 2:21pm |
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I've had the NT scan both times, and will again this time, mainly just to see bubs, I never really put much thought into whether I'd have the CVS or amnio, but I probably wouldn't.
The thing to remember is that u/s and the maternal serum test (blood test) are just SCREENING tests, they aren't diagnostic. So they give an estimate of risk based on a number of relevant factors. CVS and amnio are DIAGNOSTIC tests which give you a 100% accurate answer as they actually analyse tissue/fluid from the baby. Our resident OB Dr Anil Sharma wrote a great article for us on antenatal screening and diagnostic testing, it's in the pregnancy section.
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ElfsMum
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Posted: 23 December 2007 at 3:40pm |
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yes that is true..the maternal serum test does have a higher accuracy rate though.. yes the CVS and amnio give you 100% accurate results.. as is the case with all invasive tests(and definite gender as well) .. I hope no-one has to go through the CVS test:( !! scary stuff..but both tests are worth it for peace of mind and accuracy that is true.. at least you guys are lucky in that you can test for the diseases you have..my brother is only the 26th in the world even to have his disease..and the only one at the moment that they know of..certainly over this side of the world..so they cant really do much in terms of testing:(
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dtmum
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Posted: 23 December 2007 at 4:30pm |
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okay, thanks guys for all your comments, just wondering in your opinions though (and i guess it almost impossible to say) but what would you consider as high risk? 1/500? 1/1000? 1/50?
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ElfsMum
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Posted: 23 December 2007 at 5:03pm |
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they recommend an amnio for results that are worse than 1:250
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testing for down syndrome?
