Have you had an amnio or about to have one ? Advice please

[potxola]

Hi I am having an amnio in 2 weeks, I have been told I have 1 in 52 chances of Down Syndrom baby after the results from my nuchal scan and blood tests and my age, 41.

My hospital only gives you the results from the amnio PCR, which tells you if yor baby has trisomy 13, 18 and 21. I would like to know how I can also get the rest of the results for spina bifida and other rare illness. When I had my son the hospital did it all, but things have changed and now they ask you to wait till the 20 weeks scan to see if the baby has spina bifida.
I am calling my hospital tomorrow, but what was your experience ? Any information and advice will be welcome. Thanks

[mrslurkalot]

Hi there,So sorry you are going through this.  I had a similar risk level for downs with this pregnancy and a 1 in 8 risk of Edwards as well (I am 36).  I believe in some places you have to pay extra to get the full results.I has a CVS this time (and an amnio in my last pregnancy) and was told that if the first results came back ok it was very unlikely that there would be anything else found unless there was a fmaily history.  CVS doesn't test for spina bifida so I had to wait until the 20 week scan for that anyway. All my results were clear by the way.I remember very clearly what an awful time it was waiting for the tests and then the results and my heart goes out to you.I found that a good way to cope was to view things in percentage terms rather than odds, so in your case you have a 98% chance that all will be well - if you had a similar chance of a horse winning you'd back it wouldn't you! Can I recommend ARC (arc-uk.org) they have a helpline and I found them to be really helpful when I was trying to get my head around what my results meant.

I wish you all the luck in the world, take care of yourself x

[Millarkie]

I don't think they do the spina bifida test on amnios anymore (used to measure AFP in the amniotic fluid, but I think that the test has been replaced by ultrasound scan at 20 weeks)

In some areas you can pay to get a full karyotype as well as the PCR test. The karyotype looks for rarer chromosome abnormalities which have occured by chance in a pregnancy or may be inherited. I think in my area the karyotype test costs about £280 though (you have to pay by cheque when you have your amnio).

[whinegums]

Hi, the best advice I got from mumsnet when I went through something similar a few weeks ago was not to panic. Easier said than done of course.

I think the test must depend on your hospital - we got the fast result the day after the test - all clear, (we had a high risk from the triple test for Edwards' Syndrome). It took a while to get the full results - almost three weeks, even though the letter was dated 5 days before it was actually posted! I had stopped worrying after the fast results and a detailed ultrasound, otherwise I would have called my consultant's secretary. I had the blood screening test at around 19 weeks, which didn't show any evidence of spina bifida. How many weeks are you?

BTW, the amnio itself wasn't too bad - the needle didn't hurt, and withdrawing the fluid was a weird and slightly uncomfortable pulling sensation, but tbh the most painful thing was dp squeezing my hand too hard! As mrslurkalot says (and said to me too, thanks mll!!) you have much more chance of everything being well.

Good luck and take care of yourself.

[potxola]

Girls, I can not thank you enough for your advice and support.
I was so nervous that I had to go to bed for a while. I can't stop thinking about it. I am 14 weeks and the amnio is on the 25th. I know what would be my decision if the baby is not ok, I just want to know the full result so the termination in that case can take place soon.
I have a toddler and I feel with all of this happening , I am not being a good mum for him.
Tomorrow I will call ACR, they were closed yesterday, and my hospital to see if I can pay for the rest of the test, the hospital would do the PCR for free.
I just want to get it all sorted in paper, so the day I go they know how much fluid they have to take for both tests and send the culture to the private laboratory for the full results.Another option is this, there is a place called The doctor laboratory that charges £135.00 for PCR and £240 for the PCR and culture. I must speak to them to see if my hospital can send them the fluid for the culture only.

So many things that we, pregnant women need to find out by ourselves. It is not fair.

[potxola]

bump

[whinegums]

Potxola, really do feel for you - seems there is so much for us mums to worry about! Is there any reason why you are particularly worried about spina bifida? Although I understand that you want the all clear for everything. Hope you get some answers tomorrow from the hospital. Take care xx

[Millarkie]

Potxola - I may be wrong but I thought that one of the chemicals in your blood that they measure to get your risk of Down syndrome is the same one that is measured for spina bifida risk - AFP - it goes down if baby is at risk of DS and up if baby is at risk of SB. (Haven't got time to google and get a reference but thought it might make you less worried about SB)

They take the same amount of fluid whether you have PCR or PCR+karyotype because sometimes the PCR fails to get a result and then they have to have amniotic fluid ready to do the full test on, and if the PCR test shows Down syndrome (or trisomy 13 0r 18) then they do the full karyotype to confirm it.

[mrslurkalot]

Hi Potxola,
I know what you mean about having to find things out for yourself. I felt that the midwives at my local hospital were very vague. They were however fantastic at Liverpool Womens Hospital where I had my CVS test done.
I also understand what you mean about your toddler. I felt I was letting my son down by being so preoccupied, and to be honest if I could have gone to sleep and woken up when the results came through I would have done! I promise he won't notice!
The waiting is truely awful and I was very emotional a lot of the time. you are in my thoughts. xxxxx

[potxola]

Thanks again whinegums, Millarkie and mrslurkalot, you are great.

I have taken notes of the information you have given me and will get some answers tomorrow. I will let you know.
Somehow I feel stronger after reading your messages, thanks.

[shabster]

I had my 4th DS in 1997. I was advised to have an amnio because I was almost 41 and my blood tests had come back 1 in 180 risk of downs.

I cant say the amnio hurt in any way it was just a weird experience. I watched the screen whilst doc was doing it and my DS (I was 16 weeks pregnant) moved as far away from the needle as possible and then really curled into the foetal position. It was a bit sureal to be honest.

I had to wait four weeks - that wait made me feel mentally quite poorly - until I rang the midwife and threatened to stage a 'sit in' at the hospital where the tests were being done.

DS4 is healthy, clever and going to high school in September.

Good luck with everything my love - will be thinking about you

[potxola]

Thank you shabster, I am about to call the hospital and sort everything out.
I just want to have the amnio done and start the waiting time, hopefully 3 days.

Sometimes I think I am too old for all this.
3 years ago when I had my son the process was somehow lighter, because I didn't have to be a mother while all this took place.

Anyway, this is it for me. If this works, I would have another son or daughter. I will keep positive. Thanks again.
I will let you know how it goes.

[potxola]

Good news !
The hospital will do the PCR and the culture because I am considered high risk.
I had already talked to a private lab. this morning and planned to send them 10 ml of fluid to have the culture done, but the hospital has agreed to do it for me.

So,I am just going to relax now all the paperwork is done.

[Josie57]

Good luck with the test poxtola. I had amnio at the start of the year so I know how emotional the build up to the test is. As others have said the test is relatively painless and fairly quick and the PCR results are back quickly - I got mine within 24 hours! You're going through the worst bit now as everything feels like it is on hold but just take each day as it comes and you'll get through it. Sending you big hugs.

[whinegums]

Hi Potxola, that's great news about the hospital doing the culture, one less thing for you to sort out. I hope it goes well xxx

[potxola]

Thanks.

[mrslurkalot]

Hi Potxola, I have been thinking about you today..... Great news about the test, all you can do now is wait to have the amnio. Will DP be around to help with your DS afterwards? May help you to feel like you are doing all you can if you can put your feet up once it's done.
Did you have an amnio with DS?

[potxola]

Hi mrslurkalot,
Thanks, yes I had an amnio with my Ds and I rested a lot after the amnio.
My Dh is taking time off work to look after our son. Our families live very far away and they have never been able to give as a hand, not even when he was born.
Still, the two men of the house will have a good time while I am putting my feet up.
All the best

[mrslurkalot]

Your situation sounds very like mine, live miles and miles away from any help! I only ask because my nuchal fold measurement for this pregnancy was fine but it was my bloods that increased my risk massively. I didn't have a nuchal just the bloods with my DS and was high risk then too. The midwife I saw at Liverpool alluded to the fact that some women just have 'dodgy' bloods and no matter how many pregnancies you had they would all show as high risk........I wish you lots of love and luck, and hope that you and DP find some way of getting through the next couple of weeks xxxx

[potxola]

Sorry mrslurkalot, I am back now. Thanks for your info about dodgy blood, it is reassuring.
I feel a bit better today and I am determined
to feel even better tomorrow.
They have changed the time of the amnio . It is now at 8:30, nice and early, on the 25th. The dr. who is doing it is the head of the department, so it is good news.
I will let you know.
Thanks for thinking about me.
bump

[mrslurkalot]

Hello Potxola,

Sorry, I wasn't ignoring you. When you wrote your last post I was in bed in hospital recovering from a c section!

I hope that you are finding the strength to get through at the moment. I definately felt better when the tests were done - sort of out of my hands then........

I am keeping everything crossed for you and will be thinking of you next week xx

[mrslurkalot]

Thinking of you tomorrow. All the very best of luck xxxxxx

[potxola]

Hi mrslurkalot I hope you can find this.
How are you? And your little girl?
Thanks for letting me know about the birth of you dd in the other threat. I congratulated you the day after in the same thread.
I could not find this thread and then I wanted to wait for the results of the amnio to let you know the news......and it is good news:
The baby is normal and I am having a GIRL!!!!like you!!!!!!!!
I am really happy and I feel relax for the first time in this 18 weeks.
Thank you so much for your support before the amnio, you are a star.
All the best.

[potxola]

Sorry, I meant I want to thank you all for your support.

[whinegums]

Hi Potxola, I've been keeping an eye out for you.

That's excellent news, I know exactly how relieved you feel. So pleased for you, and massive congratulations on your girl.

Hope the rest of your pregnancy goes well, enjoy it!

xxx

[peasoup]

Fetal Medicine Centre Harley street does amnios and the doctor doing them is VERY exprienced and has a lower than the national average miscarriage rate. I think they give you all the results too-costs £400