amniocentesis in France: can anyone explain?

[AuldAlliance]

I've just been told that my chromosome marker tests show a 1 in 160 risk and my gynae is adamant that I should have an amniocentesis.

I've called the maternity hospital, and the midwife says that before they do the amnio I need to have a genetic consultation, so they know if they need to look for anything other than Trisomy 13, 18 and 21.

Does anyone know what this type of consultation involves? I can't get it done in the nearest hospital and will have to drive into gridlocked central Marseille. I'd like to know what I'm letting myself in for and if it's really necessary. I don't have the impression this consultation happens in the UK.

TIA

self-centred bump

Umm...I never did the chromosome marker tests so never got that far, but I can ask around for you.

Thanks, BriocheDorée, I'd be grateful for any info.
I want to be sure that it's more than a discussion of the history of genetic illnesses in my and Dh's families. There are none, and I don't want the fatigue and extra hassle of going all the way there just to say "No". If it's a set of genetic blood tests, I can't see the results being ready in time for the amnio next Thursday, so I suspect it's not that.

I found quite good info on here:

www.aafp.org/afp/20000815/825.html

bear in mind that amnio carries a 1 in 200 risk of losing the baby. Don't want to be negative but I would consider very carefully before having it.

Right, responses as follows (I posted on another forum...)

It was a relatively short meeting with a geneticist who talks to you about your and your husband's family background to find out if any genetic diseases run in your families. He also discussed with me the "what ifs" IF something negative appeared in the results. It was no big deal in my opinion. Took maybe 15-20 minutes.

I remember the geneticist asked us where our parents and grandparents were born, the ethnic/geographic origin of each one, etc. She explained that the amnio normally only tests for diseases whose risks increase with maternal age, but if there is a reason to test for specific illnesses due to ethnic origin, they will do that as well.

HTH

Brio

I would be pleased that they are being thorough. Having driven into Marseille several times, I understand your reluctance but your risk dies seem higher than normal. Wouldn't it be a good thing to know for sure that your baby is healthy?

That 1/200 figure given for risk of miscarriage following amnio is based on a study done in the '60s (70s?), before the systematic use of ultrasound that is common today. I'm posting on handheld now so can't copy/paste but if you search my recent posts on amniocentesis, you should find the research that found that risks are much lower, in the 1/thousands.

It would also be a good idea to ask at your hospital how many miscarriages happened following amnios over the last couple of years for example. At ours, the one doctor who does all amnios lost only one baby in all the years he has been working there, and that was a 42 yr old woman whose pregnancy was already at risk.

A similar track record might help put your mind at ease.

Can't help with your question but wanted to say hi and thinking of you at a difficult time...

Sorry to hear this AA.

I was in the same position with my first pregnancy but I was not offered this genetic consultation. However my gynaeco already had asked that information in my first appointment.

It was a horrible time, nobody professional to talk us through the 'what ifs'.

The risks presented for amnio were 1/thousands so we went ahead with it. As we had no other children it was easy to do absolutely nothing for two days afterwards.

Thanks for all the posts.

I know a risk level of 1 in 160 is higher than usual. I've also been trying to find info about the risk in France linked to amnio, and have found it most often stated that it's between 0.5% and 1% according to the hospital where it's carried out. (But I'll look for your posts, Cote d'Azur). I have a pre-amnio appointment with the midwife at the local maternity hospital today and will ask about their track record. I'm being pushed to have the amnio next week, because it's the best time for it (17th week), so if I want to have it in another hospital/clinic with a better rate of success, I have little time to set things up.
I know they are being thorough, which is good, but at the same time I sometimes get the feeling that things happen automatically once you have ticked boxes. I'm really, really tired after an awful bout of gastro-enteritis, grim morning sickness, stress at work and the general fun of juggling pregnancy, a lively 3.5 year-old and work. Going to Marseille doesn't only involve a stressful drive, but also re-scheduling a heavy day's work, re-arranging DS's after-school care, etc. If it's just for me to wait for an hour in a corridor and then spend 10 minutes with a specialist saying that there is no history at all of any genetic illness or indeed any major illness in my family or in DH's, I'm not overly enthusiastic at the prospect. I'd have gone to Aix much more happily, but the specialist is absent next week. Anyway, am burbling now...
Thanks again.

I would happily offer to babysit. But you live just a little too far away .

Before amnio, hospital should give you a bottle if iodine solution (teinture d'iode, called 'Betadine'). The night before amnio and the morning of amnio you wash your entire belly with it. This is to minimize chance of infection. If they don't mention it, ask for it.

Try not to worry. It will be ok

Have just got back from seeing the midwife, who was lovely and took an hour with me.

In complete contrast to my gynae, who wrote on my forms the weight he thinks I am rather than my actual weight (thereby taking the risk of throwing the test results) and yesterday informed me 'Il n'y a pas à réfléchir' when telling me I needed an amnio. He knows it all, I need a lobotomy.

The midwife calculated the integrated risk and it comes out at 1 in 1006, which is not the same thing.

In my local maternity hospital, they clearly take things v seriously: she not only gave me the prescription for the Betadine, she told me to wash head to toe (yep: hair, too) in it the night before and the morning of the amnio, if I choose to have it. And she says that she can't allow the amnio to take place on her ward without the genetic consultation results, though the gynae can take that decision.

If I go ahead, I have 2 days' complete rest and a week off work...

Thanks for all your support, and for even thinking that you could offer to babysit, Anna, I am very touched. Even with the TGV I think you're right that I am slightly at the wrong end of the country!

So glad your appointment with the midwife was more informative and supportive

When I was pg with E, one of the first things I told the consultant was that I was not willing to have an amnio........

He was ok with this.

I saw a geneticist with another pg and she also changed the stats - from one in 60 to around one in a thousand and I refused amnio.

Btw, have found some brilliant mat jeans that I had - took me from early pg to whalelike and then the blubbery couple of months after! Are you interested?

Both my babies were born in France and I had amnios with both. The consultation with the geneticist was quite detailed. He went into both family histories - as far back and as far reaching as we could remember - basically to see if there was any history on either side. He also did some sort of calculation using the blood test results and my age (35 and 37) wihich gave me a high risk - mainly as a result of my age. He also explained all the other things an amnio can test for (although the blood test only determinbes your risk for Downs they test for all sorts of other things while they are about it). I found the consultations very reassuring after initially being thrown into a blind panic by my blood test results. He explained the risks involved in the amnio, but pointed out that these were national statistics and in his hospital they hadn't had any miscarriages in living memory. Both babies were fine - I also had the benefit of finding out the sex for sure! I'm really glad I had them as it really put my mind at rest for the rest of the pregnancy. When I was pregnant the second time I was very glad to be offered one. Bonne continuation!

That's really interesting.

I didn't know if it was possible to have a recalculation of the risks.

With my second pregnany I chose not to have the blood tests so that I wouldn't have to go through the 'to amnio or not to amnio' dilemma again.

We're going to the genetic consultation on Monday (DH has offered to drive me there while I cover my eyes to avoid seeing the madly swerving traffic and moronic double parking in central Marseille), so I'll see what that consultant says before deciding.

Thanks again, everyone!

Bonne courage for today AA.

Will ring you re jeans....

Thanks ggg. Just off to Marseille...
Speak to you soon!

Thought I'd update in case anyone else ever goes through the same process.

The genetic consultant was lovely. She drew a predictably empty family tree with zero chromosome abnormalities on it, after asking us about our families.

But she said that she couldn't take the midwife's calculation of the integrated risk into account, because it includes the nuchal clarity measurement from the scan and in France any Tom, Dick or Harry can take that measurement (unlike in the UK, apparently, where it is done by specialists). And she suggested that my (now ex-)gynae was perhaps not quite up to scratch, given his tendency to guess at my weight, the illegible scrawl in which he scribbled important measurements on the scan sheet, and the fact that she couldn't tell from the scan pictures where he had taken the nuchal clarity measurement, so she couldn't check that herself.

So the risk remains based solely on the triple test.

Am going in for amnio tomorrow , complete with orangey Betadine scalp. I am scared.

Please don't stress, it's going to be OK. It hurts but doesn't take very long and is nowhere near as bad as childbirth

I hope it all goes well for you. Bon courage.

Thanks for the update. Keeping fingers crossed all goes well.

Hiya, am a bit late on this one but hope all went well yesterday. I had an amnio in France with my first after a 1 in 30 risk from the triple blood test - all was ok. With my second I had a 1 in 185 risk and was advised to have the amnio but after a 1 in 30, 1 in 185 seemed like no risk so I refused the amnio and had a specialist scan instead where the guy does an extremely detailed ecographie with a high powered machine and can tell that the baby has a lense in each eye, that the kidneys and liver, brain etc etc etc are all developing normally and also takes loads of measurements and will actually state that 'there is no evidence to suggest any trisonome abnormality' (or other abnormality for that matter like hare lip and club foot) This is obviously not 100% acurate but certainly put my mind at ease after refusing the amnio and was completely non invasive - so its certainly an option for anyone going through the same thing. (Baby 2 was fine too btw)

sorry - forgot to mention - I wasn't offered a consulttion to discuss my history, my regular gyno asked the questions...