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In NZ - testing for Downs

11 replies

buzzybee · 07/06/2007 06:20

I'm booked in for Nuchal scan next Thur when I will be 12.5 weeks. My GP has put the fear of the proverbial into me though by warning me that at 37 my risk could well be below 1:500 and then I have to make a decision about having an Amnio - which I DO NOT want to do. Apparently there are no other options here although overseas they do a combined scan/blood test with a higher degree of accuracy. Am now wondering if I should proceed with the scan? Having said that given I am going to be a single Mum I'm really not sure I could cope with a Downs child. Is she scaring me un-necessarily? Or am I being overly paranoid about the Amnio?

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vizbizz · 07/06/2007 06:26

Hi buzzybee,
How about you wait and see how the nuchal scan goes first? If it all looks clear, what is the likelihood of something being missed? I can understand your concerns about the amnio. Do you have someone else you can talk to about it all, like your midwife?

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lillypie · 07/06/2007 07:43

hi buzzybee i had an amnio as my blood test results came back with a 1:30 chance of downs syndrome.i had the test because i wanted to know what i would be facing.
the test it's self was slightly uncomfortable but not nearly as bad as i thought it would be.
the test results were negative,i don't know what path i'd have chosen had they been positive but i couldn't have gone through the pregnancy worrying about it the whole time.

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Pixiefish · 07/06/2007 08:10

Your age puts you at a 1 in 200 risk. They'll add other factors and give you a risk. I came back high a couple of weeks ago and spent a week before the amnio worrying and crying.

You HAVE to think of it in the opposite- yes there is a 1 in 200 chance BUT there are also 199 chances out of 200 that there will be nothing wrong. If tat was a horse race you wouldn't put money on it would you with those odds.

I had the amnio even though I knew i wouldn't be able to terminate if there was something the matter but I wanted to be prepared. I had the triple blood test which isn't as accurate as the nuchal I don't think.

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buzzybee · 07/06/2007 09:04

Its not the discomfort that worries me about the amnio but the risk of miscarriage - as much as 1% I believe. So if it comes back as 1:200 do I take that risk? What if it comes back as 1:100 or less?

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SweetyDarling · 07/06/2007 09:14

Buzzy, Maybe you could investigate having the blood tests taken privately? This would give you one further indicater before you go ahead with an amnio?

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AnnainNZ · 07/06/2007 09:15

I had the nuchal fold test as I'm 35. The overall risk for my age is 1 in 226, which sounded really high to me so I was a bit worried beforehand and quite nervous during the scan. Though if you think that out of 226 women my age one will have a Down's baby and 225 won't, the risk does not seem that high.

The risk I was given after the testing was 1 in 1200 which put my mind at rest quite a lot. I then had the maternal serum test at 15 weeks which put my risk even lower at 1 in 2000 and something.

I think I figured with an amnio that as the risk of miscarriage is about 1 in 100 I would only have it if my risk from the nuchal fold test was higher than that - I was trying to weigh up the differnt risks.

Did your GP tell you about the CVS test? It can be done at about 11 weeks and gives a 100% (I think) result on Downs. Unfortunately it carries a risk of miscarriage, about the same as the amnio. It should be free if you're over 35.

At the end of the day the nuchal fold and maternal serum tests aren't 100% by any means, there are lots of other disabilities that can't be tested for and to an extent I'm just trusting to luck that everything is OK. Nothing in life is certain unfortunately.
I know lots of women in their late 30's and early 40's with very healthy babies too.

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buzzybee · 07/06/2007 09:28

AnnainNZ I haven't heard of the maternal serum test. Where did you have that done? I asked about the blood tests but apparently they aren't available in NZ at all. I have been doing a bit of cruising around the internet and it seems at my age and gestation the risk is around 1:100 since many Downs babies miscarry hence the risk of a live birth Downs baby is 1:200 at age 37. So I guess if my risk is better that 1:100 then I'm "better" than average. I had the test in the UK with DD but I was 31 then and from memory it was something like 1:2000 so didn't even cross my mind to worry about it. I think the problem is I that I tend to take an analytical/scientific approach to most things and this is probably one of those times when its more important to go with your emotional gut instinct?

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AnnainNZ · 07/06/2007 09:55

My GP (also my LMP) told me about maternal serum test when I first went to her to tell her I was pg. I have the leaflet here she gave me...it tests for Downs and spina bifida. It gives you a 1 in whatever risk for having one of them. It costs 90 bucks and any of those Diagnostic blood testing places do it. They just take a small vial of blood from your arm and it took about five minutes. They look for some kind of chromosomal markers in the blood that indicate Downs or spina bifida - I'm not too sure of the technical stuff!

The result comes back in about 10 days. It's not 100% but if combined with the nuchal fold test it's about 90% accurate. I had to get a request form from my doctor to take to the blood-taking place (Diagnostic thingy). As it gives you a "1 in whatever" chance it is obviously still perfectly possible that my baby has Downs or spina bifida but I did feel reassured by getting a low-risk result.

You're in Wellington aren't you? I'm sure it must be available - do you have a midwife? Does she know about it (as your GP doesn't seem to!)

The leaflet has a phone number for New Zealand Genetic Services, I can put it on here if you want - they would be able to tell you all about it.

I struggled a bit with normally being quite logical about things and feeling quite emotional about the thought of a termination. nearly didn't have the maternal serum test as I thought that at nearly 17 weeks (when I got the results back) it would be too hard a decision to make if I got a high-risk result. I did have a gut feeling I would continue with the pg whatever, so I suppose I was really just finding out to prepared.

Blimet, went on a bit there!

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buzzybee · 07/06/2007 11:13

Thanks! I am meeting midwife for first time in about 2 weeks so will ask her then. Will have had the nuchal by then. My GP was rather doom and gloom and not terribly helpful. Aren't you lucky having your GP as LMP?! I didn't think there were any left in Wellington. On a positive note, she was very complimentary about the midewife the lottery system has thrown up for me - she specialises in home births apparently which is why I got her as I had a home birth in London. TBH not sure I want that again here but will see how I feel down the track...

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AnnainNZ · 07/06/2007 15:49

One other thing, the test has to be done between 15 and 16 weeks for the result to be valid. No idea why!

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buzzybee · 21/06/2007 10:54

Hi people. Thanks for all your kind words before. Feel in need of a few hugs again - the nuchal results came back at 1:21. My immediate reaction is that I will go for the amnio. Have not had a chance to talk to my midwife yet. I only met her last Monday. I guess I want to understand if there are any other options and to help me weigh up the risks. 1:21 seems very high but I do recognise that it still means there's a 95% chance a diagnostic test will come back negative. I'm now almost 14 weeks and it all seems very real. AnnainNZ I know you're going through something similar and the shock must be even more for you at 20 weeks. Its so tough to know the right thing to do.