Anyone gone straight to CVS?

[Zara1984]

Hi all,

Just wondering if anyone has gone straight to CVS screening (or amnio - but I guess CVS is first point of call because it's done earlier) and not decided based on likelihood given by nuchal scan & blood test. I am not currently pregnant but DH and I (and my GP) have talked extensively (for years) about antenatal testing. We have no obvious heightened risk of genetic or other abnormalities (I'm 28, no family history of abnormalities, would be first pregnancy), however DH and I have always agreed that abnormalities such as Downs would lead to termination for us. No ifs or buts, to the extent we have control over it we absolutely do not want to have a SN child. My worst nightmare is being the 1/10 person for the combined scan and blood test that came back with low risk of genetic disorder but then went on to have a baby with some kind of abnormality. Therefore due to worry we might go for invasive testing anyway, after the combined test. Obviously I know about the miscarriage risk. I was an amnio-tested baby myself (my mum was 40 when she had me in the early 80s), so I guess I feel confident that if I survived it my baby would too (obviously this is just my opinion, would have no bearing on actual risk of miscarriage!)!

As we live in Ireland the combined nuchal scan & blood is not offered as part of standard antenatal care under the public system - you have to specifically request it specifically and pay extra for it. Therefore I'm wondering whether, given our views, we should go straight for CVS (as it's not a normal procedure here, it would be performed by the special fetal medicine unit at Dublin's top maternity hospital - so good quality people doing it) - to get a clear diagnosis, rather than an estimate of risk. Wondering if anyone has done this? Am I just being a complete control-freak (probably!!)?

Really appreciate any comments/thoughts! :)

...but if the risk of downs is much lower than the risk of miscarriage, why would you, err, risk it?

Indeed tricky hence me wondering if I'm being a bit OTT to consider going straight to CSV. I guess the thing is the certainty - although obviously it won't tell you everything under the sun - but it will tell you about virtually all abnormalities (from what I understand).

I'm also wondering whether to go straight to CSV because I have to pay extra just to get the combined test (?200+!!) so if I have to pay anyway... should I just go straight for CSV IYSWIM? If my desire is to get information and I have to pay through the nose to get it - is the best thing to do get the most comprehensive one?

It isn't one in ten people who get a low risk result but have a baby with downs syndrome. Nothing like one in ten babies have downs!
What they mean is that 90% of downs syndrome babies can be identified as high risk with the combined scan and blood test. It may even be higher than that now. That doesn't mean that if you get a low risk there is a 10% chance it is wrong. Given the relatively low number of babies each year born with Downs, 10% of that number, out of the three quarters of a million babies born in total, would be a very very small percentage risk.

I personally would not go straight to CVS due to the risk of miscarrying a healthy baby. I would have had a diagnostic test like cvs or amnio if my screening result came back with a risk factor higher than 5%, or 1 in 20. Between 1% and 5% I think it would depend on what sort of abnormalities the scan indicated might be involved.

Not all special needs are chromosomal abnormalities. There are many special needs that can not be diagnosed prenatally. Sometimes you do just have to deal with what comes your way in life.

Yes, I did OP (amnio). No regrets (although it did hurt!). Because I wanted some certainty & I didn't want to mull over risk statistics. You might hear more varied experiences if you post in the Antenatal choices/options section.

Whatever you do you will be taking a risk, it's up to you which set of risks you can best live with.

No ifs or buts, to the extent we have control over it we absolutely do not want to have a SN child.

You have very little control over this actually- I have two children with SN - physical and mental - nothing that could be detected prenatally.

I recently has an amnio myself - but I am 41 with four other children (and 2 with SN) - it was horrible - my sample was bloodstained and they told me I would have to repeat it - I could not go through with it as it happens as I felt like I had transgressed something (cannot fully explain this) - as it happens 10 days after telling me they could not test the sample they telephoned to say they had grown a culture and that all was well with the baby for the three main trisomies.

If I have another baby I will not be testing again if I am low risk because I cannot imagine that having a late term abortion is worse than having a baby with SN - however if the baby is incompatible with life then I would for the baby's sake. Due to my recent experience I have really changed my mind about things.

Thanks KatandKit - yeah I know the risk is likely to be astronomically small - re-reading my original post it does sound like I'm not aware of that!! Hopefully I'm not coming across as some kind of mad perfectionist hoping for a perfect-in-every-way-baby! Obviously you never know what can happen and take life as it comes. I guess due to experience (both DH and I knowing people who have had SN children, and DH going to school with Downs' kids that were mainstreamed) - I want to be informed/have a choice about whether to have an SN child to the extent I can control it (not much in the grand scheme of things).

Is there a rough risk factor (you've given one of higher than 5% for yourself) that doctors give you above/below which getting CVS/amnio is considered a good idea (if the mother wants it)? As this kind of screening is not routine in Ireland it's hard to find information about it in this country - my GP couldn't give me the figures when I asked her today at my pre-conception checkup.

Also be prepared for the fact that you are only at the pre conception stage - you might feel very differently when you are pregnant.

Pre conception check up - when did these start then? are they a new thing?

pinky thank you for posting and so sorry to hear about your amnio experience - that sounds really(!!) upsetting. Pre-conception checkups errr I think have always been around for control-freaks like myself - too much reading of scary intense American ore-pregnancy books perhaps...! It was good as I needed a new GP and she said she was available if I wanted to call with questions while TTC (obviously not during SWI... I think haha).

I guess my view is that not only would I terminate if it was an abnormality that was inconsistent with baby's life, I would terminate if it was an abnormality that was inconsistent with MY life (but obviously you don't get a choice for things that can't be tested prenatally!). That is different to many other people, I know.

lljkk interesting! Yes it's mulling over statistics that I'm not interested in - I want to know - as much as science can tell me - yes or no. I honestly do not give a sh*t how painful it might be, the miscarriage risk is the only nasty stinger. Realised after posting I should've put this in antenatal choices forum... will go over now and post a link! :)

If you decide to go ahead just remember you have the risk of having a healthy baby who dies as a result of the testing and you will need to live with that, i personally know someone who had the test baby was perfect and 2 days later she MC she had to give birth to a perfect dead baby. Obviously if you feel you need this test it's your choice and you should do it but do consider how you will feel if you do lose a healthy baby due to your decision.

I think they routinely offer you amnio if your blood/scan result comes back at 1 in 150 risk of chromosomal abnormalities. That is about 0.75% I think.

This still means you have a 99% chance that all is fine so I personally would still not risk a test that caused miscarriage if I was given odds of 0.75% and the risk of miscarriage was 1-2%. That would mean that if I miscarried, there would be a significant chance that the baby was normal. That is why I would not want to do it unless the risk was 5%. But I have had a history of miscarriages and that has influenced my thinking quite a lot.

However, in some places I think women above a certain age are offered the cvs more routinely. I don't know for sure. Generally it is a safe test. Also it would be very hard to know if a miscarriage was caused by the cvs or if it was about to happen anyway.

Abnormalites are not all about finding Downs. I would want to find out about the other trisomies so I would never rule out having a cvs test if I was high risk. I personally would probably not terminate for Downs, but I would definitely want to know about trisomy 13 or 18 as soon as possible as I can not imagine having to go through that at full term.

If you go to the Fetal Medicine Centre website they have some very helpful online training that explains in detail on the nuchal scan and CVS that I think you would fine helpful.

Yes and for me after I did the amnio it took me a good few days to get over it - very painful and was awful - when it came to have it repeated then I could not take the risk knowing what effect it had had last time. Also I was heading up to 5 months pregnant - and abortion at that stage would be worse for me and DH than having a SN baby - that said I felt completely differently before I actually did it - I thought I had it all sorted in my mind but when I was actually there I could not risk losing the baby to test again. That is what I am saying OP - you can plan all you like and if you are having pre conception appointments you are a planner for sure but when you are there it might not be the same. Perhaps it is better to stop reading and get shagging?

Kat thank you for those stats - that certainly helps!

Wasabi thank you for the link!! More interesting reading for me. This raises a further idea in my head about coming to London for the weekend if I wanted CVS testing and having it done at Harley St. If I were going to have a needle stuck up my fanjo/in my uterus, maybe I should be looking for the most capable person to prod....

pinky indeed how I feel when actually pregnant is the big unknown. I guess I want to give myself as much info/understanding of other people's choices/experiences as possible so that when I have the emotional element of actually being pregnant thrown into the mix too, I at least have already done my research.

Shagging is due to commence in January (obviously we already shag now... I mean SWI...). It probably wouldn't surprise you to hear I bought a CBFM (trial run using it on December cycle) and that my job involves a fair amount of project management... cough cough utter control freak

Yes I went straight to CVS. For the same reason as you. I didn't want to be given a 1/100 chance or a 1/9000 chance. I wanted absolute certainty, at least on the things that one can get certainty on. Although of course I understand that other things that the CVS can't catch could occur.

I actually had the nuchal fold and was given very low risk but didn't bother with the blood screen because I knew I wanted the full CVS. I wasn't swayed by the additional miscarriage risk because I had already had two of those and felt I knew I could cope with that - dreadful as they were - whereas I didn't think I could cope with some of the genetic disorders the CVS would test for (I became pg as a single woman which might have swayed my decision somewhat). As it turned out, even though the nuchal fold had given me a low risk, the CVS, against all the odds, proved positive for a genetic abnormality and I had a termination at 16 weeks. Just telling you what happened, not trying to persuade anyone that my way is right or wrong.

I went on to have two children, straight to CVS with both, and results were clear for both.

I completely get where you are coming from. I went to the Fetal Medicine Centre in Harley St btw for the first one because it was deemed to be my choice rather than anything indicated by my risk factors. The subsequent ones were on the NHS because of my history. FMC was lovely and Prof Nicolaides did mine - I felt in very safe hands. This happened 7 years ago but I still feel grateful to him, despite the outcome, because of his caring manner. Funnily enough he was only in the room with me for the couple of minutes it took to actually do the test but he's got a very reassuring manner and I felt very looked after.

You cannot control and plan for every eventuality, OP. Not all causes of SN in children can be tested for.

Have you thought about how you would feel if you passed the CVS with no abnormalities only to discover at birth or at some point in the child's life that he or she was not neuro-typical in some other way?

Thank you thank you margo for posting - yes it's the desire for certainty that really gets me. Although I have DH we do not have close family support (DH's family live all over the world, and I'm not in touch with my biological family due to them being Jeremy Kyle Guest levels of crazy), which would make caring for a SN child even harder.

DH had already suggested that for testing that is not routinely offered in Ireland we should go to the UK, so a +1 for Prof Nicolaides and Harley Street is another bit of information I'll add to my stack of research on this!!

thousandDenier yes I'm well aware I can't control for everything - in fact with CVS screening, I'm probably only covering off a tiny proportion of what could go wrong! I guess it's about risk tolerance - I have low tolerance!

If, as you quite fairly point out, I discovered at some point the child was not neuro-typical/"normal" in some other way - I'd deal with that as it comes. What else could I do? However the thought of my child suffering from (and me and DH having to deal with) something I COULD have tested for makes me feel physically ill (feeling nauseous just writing this post). Just because we'd be forced to deal with, whether we like it or not, something I CAN'T test for doesn't mean I don't want control over whether I have to care for a child who has the admittedly small amount of things I CAN test for.

I felt similar to you before ttc. But after 1 mc and 18 months trying when I was pg I was happy to just have the nuchal and hope for a low risk result. I didn't want cvs. The nuchal was 11mm and the risk was 1 in 2 for downs, and downs it was. We tfmr, it was the worst thing that has ever happened to me. Now my risk is 1 in 100 rather than my age related risk of 1 in 300ish (34).
I'm pregnant again after ivf and would still rather avoid cvs if the result is low risk.
I think you might feel differently when pg, especially if it takes you a while to conceive.

I'm sorry to hear about what happened to you blacktreaclecat :( - as you say, the length of time it takes to conceive, whether I have one (or many!) MC could change the way I feel. Thank you so much for posting because it's a good reminder for me that there's a big unknown emotional element I haven't experienced yet. Hence why I'm trying to gather as much info BEFORE I am emotionally affected by actually being pregnant (or not pregnant despite much effort!). On a happier note - congratulations on your pregnancy!!! :) :)

I seem to recall that the FMC isn't open weekends and I think consultations with Nicolades there are only 1 day per week. So a weekend wouldn't work. May be able to get another consultant on Harley St at the weekend though but you'd need to look around.

My career before children involved quite a bit of project managing as well. I found it hard to get my head around the idea that parenthood involves a great deal of not being fully in control, having to prepare for all eventualities actually is less stressful and accepting this lifted a great burden from my shoulders. I would also say that preparing in that way enriches life as a parent and for my family as we're more flexible and can respond to opportunities that life brings. I wish you and your family to be well :)

I do think that it is a good idea to have had a little think about such things. We had both agreed a long time before it happened that we would terminate for downs, so when it did happen there was no agonising decision. It was awful but we had decided long before when we were in our " right minds" that is what we would do.
The fetal medicine consultant felt that with 11mm nuchal plus hydrops the baby wouldn't reach term anyway which made the decision easier still.

I agree with blacktreaclecat. I had spent so long planning that I knew exactly what I wanted to do. There wasn't a "decision" as such. I suspect it's the same for many women - you either would or you wouldn't and so your "decision" is already made for you.

Wednesdays (cough cough), I think Dr. Nic works on Wednesdays, & not every week, either. Having gone for a non-indicated amnio I decided to at least pay for "the best".
Do make sure you are clear about what little assurance these tests can provide, OP. There is a huge amount in pregnancy & childbirth & parenting that you can't control.