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Diagnostic test for Down Syndrome such as CVS and amniocentesis or blood test?

10 replies

Vale · 21/10/2011 11:32

I am 39 years old and 5 weeks pregnant and because of my age I know that they will offer me a diagnostic test for Down Syndrome.

I have read an article roughly a year ago that said that soon was going to be available a simple blood test to diagnose the Down Syndrome. Anyone knows anything about it?

OP posts:
Iamseeingstars · 22/10/2011 07:53

I think there have been a lot of changes in the tests available since my DC were born but one thing to bear in mind is what will you do depending on the results.

You could be given a result like you have a 10% chance, so you think thats OK but you could be that person within the 10% bracket.

You could be given really a really high percentage, and then you have to make the decision about what you want to do with that result. Do you go ahead with the pregnancy or abort.

Whatever decision you feel you might make must be decided and discussed beforehand so that the decision making is almost taken out of your hands. If you dont think it through properly you will find making a decision hard. You dont have to stick to your decision, but if you have at least discussed it with your partner then you both know where you stand and how you would feel. It is too late to do this once you have the result because you will not give/get honest opinions.

There are many other genetic disorders that are much worse than Downs. I dont know what else is tested for these days

Vi8 · 26/10/2011 19:30

I had the blood test 5 years ago in London and it was a new thing. If it's the one you mean, it's a combination of Blood results, nucal and nose measurements. It's non invasive and very reliable, I was your age and went for it, not even considering an amnio.

tb · 26/10/2011 22:22

I had amnio nearly 15 years ago. It was done twice at Macc, and they didn't even have a focussed picture on the monitor - and the registrar who booked it didn't even turn up. 2 extremely painful experiences later, with anaesthetic, they admitted defeat and referred me to st mary's in manchester. There it was done without anaesthetic, and was less painful than a gnat bite.

Moral of my story - go somewhere where they know what they are doing if you go for amnio.

The midwife at St Mary's said that she'd seen people have Down's babies in their 20's so she had decided that she'd always have the test, as she didn't have much faith in statistics.

Due to the repeated buggering about at Macclesfield, I had an irritable uterus the following week. I know for sure that if it had gone wrong they would have blamed me for insisting on the test. It's what they were like.

PacificDogwood · 26/10/2011 22:27

You need to inquire at the hospital where your likely to deliver what exact tests they offer.
Also what their risk of MC etc is - the national average risk of 1% for amnio after 15 weeks and CVS after 10 weeks is meaningless where the risk of whoever may do the test for you IS important to know.

AFAIK some centres do offer maternal blood sampling for fetal genetic testing on the NHS. A further few private places do it.

Sorry to be so vague, but I think you really have to ask around.

FWIW, I had my DSs between 37 and 44, carry a genetic condition and therefore had CVS x3 and amnio 1x without any problems. And 4 healthy children Smile.

At the end of the day, it is a decision that only you (and your partner) can make. V best of luck and congrats on your pregnancy.

PacificDogwood · 26/10/2011 22:29

Sorry, just read the other posts: I think the OP means a very newly availble test where fetal cells that have 'escaped' into the maternal blood stream are tested via a simple blood test from mum. It is a diagnositic test, not risk assessment, but I am not sure how widely available it is just yet (it was not available outside studies when I was expecting DS4 about 2 years ago - well, not in Scotland Wink).

catsareevil · 26/10/2011 22:35

Iamseeingstars

The screening tests (which give a percentage chance) are used as a way of deciding whether or not to have definitive testing (eg an amnio or CVS, which will tell you for sure if the baby is affected), rather than deciding whether or not to terminate.

RJRabbit · 26/10/2011 22:41

I had a CVS the day before they wrote about the new test in the newspapers! DS2 is now 5 months old and asleep next to me. I'm sorry I don't know if the blood test is being used yet, but I hope it's available to you if so!

LineRunnerWitchyMother · 27/10/2011 11:38

Vale, I think its this

www.nhs.uk/news/2011/03March/Pages/blood-test-for-downs-syndrome-studied.aspx

which suggests that the new test isn't generally available yet?

I had amnio with DC2. It didn't hurt, and the doctor used a ultrasound monitor and was very reassuring throughout. The problem was, that by the time the results came through, my pregnancy was about 16 weeks.

LineRunnerWitchyMother · 27/10/2011 11:39

it's !!

BurningBridges · 27/10/2011 16:05

I had a nuchal fold scan etc in London but my DDs are 8 and 10. I had to arrange and pay privately. However, friend in neighbouring health authority area, just over a mile from me, got hers free. I was 38 DD1 and 40 DD2. Anyway, that was the best option for us cost about £90 then so should imagine its more now but have a google.

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