(member)

19/05/2009 20:48

Down Syndrome testing

I wonder if any forumers have experience of Down Syndrome testing and it giving a false positive result? My 30 yr old daughter has just been told that her 16 week blood tests show a high risk of her baby having Down's (1 in 211). She is afraid of having an amniocentesis because of the high risk of maybe losing a healthy baby.

(member)

19/05/2009 21:06

Re: Down Syndome testing

I had an amniocentesis 23 years ago, not for Downs but for spina bifida. They have to tell you the risk but they are extremely, extremely small. Mine was "your proteins levels are high.....we should do an amnio..". We nodded as nothing else we could say. So it was lie on the table, a bit a shock to the system to say the least. I just went home and cried and just laid down for 2 days. Plus it wasn't my normal consultant who decided, when I saw my normal one later he said "I wouldn't have given you one as there was no need". Speechless.

Everything was ok which gets rid of the worry. It's peace of mind that the test will give you. The test is extremely quick.

(member)

19/05/2009 21:15

Re: Down Syndome testing

I was 32 (and classed as an older mum!)when I had my daughter and I was told she was high risk for Downs Syndrome.(can't remember the figure)...but I gave birth to a perfectly healthy baby.I too refused the amnio for the same reason

If she really is worried, I am sure you can get a more accurat 3D scan done (you would have to go privatly)This scan identifies more of the features of a Downs Syndrome baby.

I am sure you will get lots of good advice on herexx

(member)

19/05/2009 21:17

Re: Down Syndome testing

Thanks for your prompt and helpful reply. Her Down's risk being 1 in 211, is apparently very high for a 30 yr old, but her consultant told her the miscarriage risk is around 1 in 100 for the amniocentesis.....double.....she is distraught.

(member)

19/05/2009 21:17

Re: Down Syndome testing

i had the triple test when i got pregnant at 42. my risk was 1 in 17 so it was extremely high. i was offered amnioscentesis the next day but as you have to wait 3 weeks for the results i opted for a chorionic villus test which only takes 1 day for the results to come back. both tests carry a small risk of miscarriage so you have to decide whether you would consider termination if there was anything wrong with your baby. my consultant said if you're not prepared to consider a termination then dont have any of the tests. the chorionic villus test is where they take a sample of tissue from your placenta instead of the amniotic fluid, same procedure though, needle into your womb. because of other problems i also had 2 amnioscentesis tests later in my pregnancy and was due to have another one the week i had my daughter. the tests aren't very nice but they were necessary for me to check on the health of my baby, luckily she is perfect and now 8 years old. its a really scary time so give your daughter my best wishes, i know exactly how she feels.

(member)

19/05/2009 21:25

Re: Down Syndome testing

Thank you all. She will be so reassured by your replies and good wishes. I know I am. At the moment she is unable to even contemplate termination, whatever the outcome.

(member)

19/05/2009 21:26

Re: Down Syndome testing

yes, and my advise would be dont do it,my youngest daughter had this test, it came back with a high risk of downs,she had the amnio,which was painful and distressing for her,it was eventually proved all was well and my beautiful grandaughter was absolutely perfect.all that worry for nothing,i was also told by a midwife friend that these test are very unreliable anyway.

(member)

19/05/2009 21:36

Re: Down Syndome testing

sassygranni, amnioscentesis tests are about 99% accurate in detecting chromosome problems, my tests (i had 2 and a chorionic villus test) weren't at all painful and they put my mind at ease. i know everyone is different but isnt it better to be reassured ?

(member)

19/05/2009 21:42

Re: Down Syndome testing

I had the triple test for my first pregnancy along with a nuchal scan and my risks were very low so we were happy to procede with the pregnancy with no worries. When I got pregnant the second time, the nuchal scan was fine but I again opted for the triple test (this was 1995). The results were very high risk - 1:157 for Downs. We were lucky to be sent to Harris Birthright at Kings College Hospital and they were wonderful. I spent all day being scanned while they looked for 'markers'( anomalies which are found in Down's babies). Eventually they found one, and the risk went up to 1: 30. I had an amniocentesis there and then. I was very frightened, but it was over quickly and I could see everything was fine.
The test results came back positive and we had the pregnancy terminated. It was a really terrible time, but a previous writer is absolutely correct when they say - if you're not prepared to think about terminating the pregnancy, there's no point in taking the test.
I don't regret the decision, rather being in a position where we had to make it. It still upsets me to think about it, but I am now blessed with 2 beautiful healthy children and I know having a child with special needs would have been a life sentence for all of us which we did not want. I'm sure some people can cope with it, and I know that if we hadn't found out and had brought the baby into the world we would have coped too, but not out of choice. If she doesn't want to live with a Down's child then she should seriously consider the test. Just make sure you find out who will perform the amnio and how many procedures they have done.
The very best of luck. It's a terrible time of worry.
Best wishes

(member)

19/05/2009 21:53

Re: Down Syndome testing

Thank you all. Her OH is a devout Catholic and so for him, termination is unthinkable. To go ahead with one, if that were indeed her wishes, could possibly destroy their marriage. Hence the fear of 'knowing.' Just the possibility that the initial blood test could be inaccurate is a small comfort to us all at this suddenly worrying time.

(member)

19/05/2009 21:55

Re: Down Syndome testing

glitteryhelen, we too considered termination as we had a 13 year old son and we had to think about the consequences of us bringing a disabled child into a world where we may not have been alive to look after her as she got older. As older parents, it would have been left to our son and we didnt feel that would have been fair on him which is why we decided to have the tests. I went to Leeds General for my Chorionic Villus test and the people there were fantastic, they know that everyone is terrified when they go and i'm sure it's the same at most hospitals. The risk of miscarriage is very small but it's still really difficult to make the decision to have the tests. i didnt find them painful, the consultant explained to me that once the needle has gone through your skin, as there are no nerves past there, you cant feel a thing and she was right. In fact on all my tests i watched the needle on the ultrasound screen whilst they were doing it ! on the last one, one midwife had to push my baby out of the way of the needle whilst the other did the test, so they could draw the fluid as she kept turning towards it, she's still nosey now !

(member)

19/05/2009 22:04

Re: Down Syndome testing

I had an amnio with my first child and a cvt with the second so experience of both and the miscarriage risk is really down to the experience of the person carrying it out. The more experienced I was told then the less chance of miscarriage.
But I know several people who have been in your daughters position and their babies were fine.
But, also other women have not had any further tests because they said it would not have affected their attidtude. If the baby is Downs they would still love it, they only thought it was worth having the further test if there was something they would do about it.
On the other hand I took the further tests both times because I wanted to know for definite, not a risk but a are they or arent they.
its up to your daughter to decide no matter what anyone else says.
good luck
F1x

(member)

19/05/2009 22:16

Re: Down Syndome testing

I cannot add anymore to what as already been said,apart from my ED
went through the same worry and decided not to have the test......
got ahealthy 7 year old now.....So hard for your daughter.
freesia x

(member)

19/05/2009 22:21

Re: Down Syndrome testing

Thank you - they say they will love this little baby whatever. I loved it from the moment I saw its first scan. I look at it now and think, but surely it looks healthy? I fear for them.

(member)

20/05/2009 10:35

Re: Down Syndrome testing

A friend of my daughter has just had the same test and it has come back that she has a 1 in 19 chance of having a down syndrome baby.
I thought this was quite high.

Then I saw on the front page of the Guardian on Saturday there was an article on this very subject. It turns out that many test are wrong and they are putting parents to be through so much worry. I didn't read the whole piece but they did say that further tests such as the Amnio tests are more accurate.
Maybe you could find the article on the newspapers website.

Hope all is well and good luck.

Woodentop

(member)

20/05/2009 12:54

Re: Down Syndrome testing

Thank you, I will certainly do that - I will find their website now!

Jelli

(member)

20/05/2009 15:38

Re: Down Syndrome testing

Your daughter needs to think carefully about what she wants from her life. A baby with Downs Syndrome may not be so bad, but what about an adult? This will affect your daughter's life forever and she has a chance here to find out the real situation that she is faced with and make a decision - hopefully taken with real consideration for her own well-being and that of any other children she may have in the future. We always said we would terminate a pregnancy if we were ever in this situation, and even for us, with that pre-agreed mindset, it was absolutely the hardest thing I have ever had to do in my life. It's an experience I wouldn't wish anyone to have to go through. However, I know it was the right thing to do, for us, and I'm so grateful that we were able to have the choice. If we had had that child, we wouldn't have gone on to have our incredible 2 nd child that we have, who is bright and beautiful and has a full and exciting life ahead of her, as does my elder daughter, whose life would have been altered dramatically too.
The chances of miscarriage are very small, particularly in experienced hands - and she will be able to watch on the screen and see for herself that the baby is ok during the procedure. Once she has the truth in front of her, she will be able to make the right choice, for HER life as well as the babys. Again I wish her luck, and courage. It's important that she thinks past the baby and looks at the future consequences of whatever she decides.
My heartfelt best wishes to you all

(member)

20/05/2009 17:36

Re: Down Syndrome testing

the triple test (blood test) results are calculated by computer.My consultant rold me that the information used to calculate the probability of having a baby with a chromosome disorder is a standard set of figures which take all sorts of things into account but the major factor is age. Anyone in their 30's is classed as an elderly mother (!) When you get pregnant at 42 as i did, you can more or less guarantee to get a high score !!! 1 in 17 was a big shock though. The only way to be sure is to have the amnio or CV tests and i'm so glad that i decided to have them. Like glitteryhelen, i had to try to think beyond the birth and consider everyone who would have been involved should there have been a problem. It was the most difficult decision we have ever had to make. It has to be a personal decision and your daughter and her husband should do whatever they think is right for them, i wish them all the luck in the world.

(member)

20/05/2009 21:58

Re: Down Syndrome testing

jelliclecat, I agree with all of the above, but what I am hearing is your fear at least as much as your daughters. You love her and want all to be well. Although the risk is higher than normal it is still low - if you lay 211 newborns in a row you would expect one of them to have Downs, the risk of this being your grandchild is actaully low if you think about it like this. I think that if a detailed scan would help it might be worth getting the money together to pay for it, it would help to make the decison about amnio easier, and if they have alrady decided against termination then at least they would know one way or the other. I would also suggest that if your daughter has been attending a district hospital that she asks for referral to a university teaching hospital where the equipment is likely to be better (I don't know if this is possible in England, it would be here in Scotland) Please use the forum for support and let us know how things progress.

(member)

20/05/2009 23:56

Re: Down Syndrome testing

Thank you - you are so right: as her mother my instinct is to want to make everything come right for her, but of course, that's impossible. Luckily, our hospital IS a university teaching facility - but her difficulty is SIL's deep Catholic faith and his reluctance to seek further intervention, or indeed to tell anyone. I am the only person who knows what is happening to them - and likely to be. At the moment there seems no way round this.

(member)

21/05/2009 08:56

Re: Down Syndrome testing

Even if a termination isn't going to be an option the additional tests will give her peace of mind. If she's worrying about the 'what might be' it's going to affect her general health (blood pressure etc) which isn't going to be good for her or the baby. I think I'd want to know - if it's bad news then you've still got time to come to terms with it, find out what it's really going to mean for your lives and be prepared (take time to research, find out everything you need to know), if it's good news then it was a few days worry not a few months. Either way I think it's better than ending up completely stressed out by not knowing and ending up possibly affecting the unborn baby as well as yourself.

Someone I knew at school has a Downs child - she wasn't tested (considered too young to need to be at the time) and although she feels that her child has given her a lot of positives that a 'normal' child wouldn't have she'd have preferred to have known in advance so that it wasn't such a shock when she was born (I think the first few weeks were really a shocked haze rather than the joyous time they should have been).

(member)

23/05/2009 13:24

Re: Down Syndrome testing

Hi Jelliclecat, I don't have anything to add but just wanted to wish you well as I know how you and your daughter must be feeling. My sister is expecting twins and had the same test last week. She had two results: 1 in 700 for one baby and 1 in 250 for the other. She has been told that's fine no need to take it further. I don't know if her age makes a difference, she is 37. I am concerned about the big difference between the results and since reading this thread am wondering why she hasn't been offered an amnio. Anyway I haven't said anything to her as I don't want to scare her (it's her first pregnancy) but I am a bit worried something may have been overlooked.

Best wishes to your daughter
acoustic

(member)

23/05/2009 18:30

Re: Down Syndrome testing

Hi Jelli - so sorry to hear about the worry and upset your daughter, you and your and family are going through. I have 3 children and when I had my first scan for my 3rd child I was told there were multiple cysts on the baby's brain which could be a sign of Down's Syndrome or Edward's Syndrome. As I was 19 weeks pregnant I was advised to have an amnio the next day. I was also told I was having a boy and, although this would have made no difference, I had been secretly hoping for a boy as we had 2 beautiful girls. My 4 year old daughter was also undergoing treatment at this time for a tumour in her mouth and obviously the whole situation was horribly stressful. I didn't want to have the amnio as I was worried that I wouldn't be able to go through with a termination should the results be positive but in my distressed state I was persuaded by my husband and Mum who both felt we wouldn't be able to cope with a disabled child. The consultant who carried out the amnio was calm and reassuring and the procedure was painless and I felt no worry that I may miscarry. The waiting for the results was the worst thing but we eventually received the wonderful news that I was carrying a health baby boy. I had further scans and these cysts had all disappeard by the time I was about 35 weeks pregnant. He is now a gorgeous 15 year old! I do hope that whatever tests your daughter undergoes give her peace of mind and I'm sure you will all be welcoming the healthy new arrival into your family. Best wishes. Jodie xx

(member)

23/05/2009 21:31

Re: Down Syndrome testing

Jellicle cat,
Just wanted to add my thoughts and to send you a huge hug......
As usual these ladies have given you great advise,and fully appreciate how difficult this is for you....and of course your daughter. I hope all will turn out well but just wanted to say that I'm sure you will all love this baby whatever the outcome.

Also, as one lady said "having a baby with a disability is a life sentence".......please don't think this is what life with a child that is not 'perfect' is like.....because it isn't......yes, it certainly is different and sometimes a challenge, but it definately is NOT a life sentence! (And to be honest, as a mother of a child who is classed as disabled and has a heart condition I find it insulting to be told that.......)

Sending you much love at this difficult time
Seaside Tracie xx

(member)

23/05/2009 21:43

Re: Down Syndrome testing

Thank you all for your kind words - they are a great help and comfort to us.

Much love, Jelli

Contact Us | Privacy statement

Woman and Home homepage