Genetic abnormality testing?

[Little Lunasa]

Ok so this might be jumping the gun as am only newly preg but I'm already worrying about genetic abnormalities due to my age. If this bean sticks I will definitely get some tests done but which ones I don't know. Can anyone simplify the difference between cvs and amniocentesis for me please? And are there other tests I should get done? (bearing in mind I live in Ireland where termination is illegal) And at how many weeks should they be done?
TIA xx

[bunnywabbit]

When I went for my first midwife appointment at 8 weeks, they took family history, urine and blood samples to start with as routine. They see what is picked up from these and take it from there. Amnio and CVS are usually last resort if concerned. I'm waiting for my blood and urine test results to come through - am 'mature' myself so a little concerned about the results too.

[Little Lunasa]

Thanks Bunnywabbit. My first midwife apt is at 12 weeks so was thinking that's a bit late to organise tests?

[nuthinbutpink]

MaterniT21 is a new test. Can be done much earlier than a CVS and is done with your blood only. It can give you some early results for the most common chromosome issues. After that, a CVS can be done which is a biopsy on your placenta. An amnio is the latest test that can be done and it is a needle through the belly and takes the amniotic fluid. A CVS should keep you from having to do an amnio and waiting that long to find anything out.

[Little Lunasa]

MaterniT21 is a new test. Can be done much earlier than a CVS and is done with your blood only. It can give you some early results for the most common chromosome issues. After that, a CVS can be done which is a biopsy on your placenta. An amnio is the latest test that can be done and it is a needle through the belly and takes the amniotic fluid. A CVS should keep you from having to do an amnio and waiting that long to find anything out.
Thanks NBP but I don't think Maternit21 is available in Ireland, it being such a backward little country :(

[maria02]

Thanks NBP but I don't think Maternit21 is available in Ireland, it being such a backward little country :(

It's not available in most countries I think. I'm in Australia and have had a few friends do it lately, it gets sent off to the US to be tested. It's quite pricey but the cost is getting lower as more people do it- about $400 AUD which is about 270 EUR.


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[Little Lunasa]

It's not available in most countries I think. I'm in Australia and have had a few friends do it lately, it gets sent off to the US to be tested. It's quite pricey but the cost is getting lower as more people do it- about $400 AUD which is about 270 EUR.



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Thanks Maria, I will ask my gp about it so :)





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[ever hopeful]

You can have a harmony blood test done in the UK now at just past 10 weeks now, with results back 10-14 days later (as they are sent to the States). Think it was pioneered in UK by Prof Nicolaides at the FMC in London The Fetal Medicine Centre (http://www.fetalmedicine.com/fmc/)
I was asked when I booked my NT scan if I wanted to do it because of age, but talked to the Dr and didn't bother because I had done HT and it is similar to 5 probe FISH - 21 (downs), Edwards and Turners, which I think are the most common abnormalities. You can also find out gender, although some clinics that offer Harmony weirdly don't actually include Gender. Probably best to wait until just after 11 weeks though and have it done at the same time as a NT and scan where they should also be able to see the nasal bone, thus reducing chance of Down's etc (but not sure you have that in Ireland?)

Harmony is totally non invasive, so no chance of m/c unlike CVS or amnio, where I think it is around 1%.

Good luck and I'm sure you have a nice healthy sticky bean in there, I'm a strong believer that age is just a number. xx

[Dreamingof2girls]

I think {bear in mind I'm in the states so I'm going by what they do here} they take out blood samples {Cystic fibrosis & downs} based on those results you'll be told if you need a cvs or amnio. I was only 30 when my test taken @ 16 weeks came back abnormal :/ I had to do an amnio or let it be. I choose amnio. Miraculously it didn't hurt & nothing happened to me. PLUS baby was as healthy as a horse. lol he was however born @ 35 weeks & I have no idea if that was just nature or the amnio.

[Mum3blue]

It's not available in most countries I think. I'm in Australia and have had a few friends do it lately, it gets sent off to the US to be tested. It's quite pricey but the cost is getting lower as more people do it- about $400 AUD which is about 270 EUR.

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Sorry to hijack this thread, I'm on Australia and looking at these tests but have only found them to be way more expensive, can I ask who conducts them for $400?

[Little Lunasa]

You can have a harmony blood test done in the UK now at just past 10 weeks now, with results back 10-14 days later (as they are sent to the States). Think it was pioneered in UK by Prof Nicolaides at the FMC in London The Fetal Medicine Centre (http://www.fetalmedicine.com/fmc/)
I was asked when I booked my NT scan if I wanted to do it because of age, but talked to the Dr and didn't bother because I had done HT and it is similar to 5 probe FISH - 21 (downs), Edwards and Turners, which I think are the most common abnormalities. You can also find out gender, although some clinics that offer Harmony weirdly don't actually include Gender. Probably best to wait until just after 11 weeks though and have it done at the same time as a NT and scan where they should also be able to see the nasal bone, thus reducing chance of Down's etc (but not sure you have that in Ireland?)

Harmony is totally non invasive, so no chance of m/c unlike CVS or amnio, where I think it is around 1%.

Good luck and I'm sure you have a nice healthy sticky bean in there, I'm a strong believer that age is just a number. xx
Thanks Hopeful :)
I rang one of the Maternity hospitals in Dublin yesterday and they listed my options, one of which is Panorama (new to Ireland) non invasive but doesnt give a definitive answer according to the girl I spoke to. Can be done at 9 weeks. Think I will go for this even though 1% chance of incorrect results

[maria02]

Sorry to hijack this thread, I'm on Australia and looking at these tests but have only found them to be way more expensive, can I ask who conducts them for $400?

I'm not sure sorry- I haven't had it myself, it's just what people in my fb mums group have done. I know one lady got it for $900- something a while ago but then another lady more recently got it for $400 (or somewhere close to that) From what I've picked up the price varies with demand- ie if there are more people doing the test at the same time as you it'll be cheaper. I can ask who they did it through.


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[maria02]

Sorry to hijack this thread, I'm on Australia and looking at these tests but have only found them to be way more expensive, can I ask who conducts them for $400?

She did it through Queensland Fertility Group, but said it was $900- sorry must've read it wrong before.


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[Mum3blue]

She did it through Queensland Fertility Group, but said it was $900- sorry must've read it wrong before.


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Thanks, that's about the 'cheapest' I've seen andany go up from there.

[atomic sagebrush]

My doctor told me that unless I planned to terminate (which I didn't for anything except the absolute most dire circumstance) that most very serious things showed up pretty clearly on ultrasound and even things that were less obvious such as Down's Syndrome, the soft markers would show up and then at that point we could decide what to do. He said that we could do an early ultrasound in time to see anything horribly wrong before the time limit on CVS and the late ultrasound was in time to do amnio. I ended up not doing the early ultrasound in time for CVS anyway.