Would you do CVS if your odds went from 1/75 (NHS) to 1/1423 (FMC)?

[xkat]

So, would you do CVS given the information below, given that it would be at the best fetal medicine facility in the UK? (The NHS actually refers people there ... for all you English folks, your NHS is absolutely fantastic.)

Hello all,

Been reading through the threads here and it is amazing how much you all share, and thank you for that as I would not have known about the more detailed ultrasound scan that can be done when determining 'risk' for chromosonal disorders.

So, the long preamble to my question:

I had my nuchal measurement and bloodtest done by the NHS Tuesday, and the call today telling me that I had a 1/75 risk for Down Syndrome. My nuchal scan was fine, a little on the high side, 2.3mm, and PAPP-A was good, low, but my beta hCG was triple what it should be! I knew it as when I first took the pregnancy test, the line immediately appeared and very very dark. So double the normal amount of beta hCP can indicate chromosonal abnormalities (also I am 40) and I am triple. They said I could go to the Harris Birthright Centre @ King's College for CVS.

After the call this afternoon, I read on here about the Fetal Medicine Centre and called them immediately, since my gestational date was wrong by a week and half (I wasn't 12 weeks at the NHS screening, I was actually 13+4) and they said I should come down right then for a screening or it might be too late to accurately measure.

So I went down, the doc was wonderful, took a long time scanning and measuring various aspects of the baby and me, including checking baby's heart and urine flow (almost wrote my urine flow!), my cervix etc, though for the test, it says only nasal bone present, tricuspid flow, and ductus venosus were the added markers. So, my new 'risk' is 1/1423.

My question is can this really be accurate? I expected maybe a difference in the tens, not in the hundreds! I don't see how it can be so different as beta hCG reading was exactly the same, PAPP-A same and the nuchal scan actually showed even more thickness! Does the nasal bone etc. really have that much weight?

Any insight is welcomed! And as I've already mentioned, thanks for all the helpful wrods posted in these threads.

Love, k

[SuzysZoo]

Hi there. My NHS test was 1;50 and I paid for a test at Fetal Medicine Centre who gave me a result of 1;1500. I was happy with that and did not have a CVS. The Fetal Medicine Centre explained to me the reasons that their test is so much more accurate. Give them a call and they can probably explain why it is so different. And congratulations by the way!

[janski31]

Hi I am in a similar situation nhs gave me odds of 1:5 after bloods and high nuchal, I paid for a private nuchal scan combined with bloods gave me a 1:1128 so a massive difference the private sonographer was acredited by the above FMC. I am currently 19 weeks got my 20 week scan on wed.

[kittyonthebeam]

I have seen FMC and cannot recommend them highly enough. also got much more accurate results and would second Suzy and say ring them and let them tell you.

Congrats and wishing you and bubs all the best!

[addie81]

I wouldn't have a CVS on these odds. You are way more likely to lose a healthy baby because of the CVS than you are to have a baby with downs.

[oldmum42]

Each individual "marker" that they measure is used to calculate the overall risk/odds of a chromosomal problem, so although your bloods may have been the same/similar, the pressence or absence of each "marker" would raise/lower your risk factor by an amount which has been determined by many years of research.

For example, if your bloods say a 1:100 risk of serious problems, but a nasal bone is present, they might recalculate that to 1:200, if no nasal bone, they may say 1:20 (I don't know the actual figures but every additional "problem marker" greatly increases the risk factor, and every "normal" marker reduces it).

Remember your results are a risk profile, not a diagnostic test, but 1:1400 is a very low risk, and no one will push you to have a diagnostic test unless you really want one.

[xkat]

Wow, thanks for all the replies!

oldmum42 (pshaw! Thank you SO MUCH for the clear explanation.

Suzy and Kitty, I will call FMC as yesterday after the procedure I was feeling faint and felt like I couldn't hear properly thru the dizziness.

janski how did your twenty week scan go? or did you mean next wed?

The people at ARC actually told me to book the NHS appt at Kings since I am already so late in the weeks and then decide over the weekend... (everybody here is right by the way, call ARC they are great! arc-uk.org)

From these posts I am thinking maybe not to do CVS, but will call FMC to talk. Also, other considerations, posted here in case others are reading and in similar situation, I don't believe King's has had a miscarriage from this procedure (will try to check more thoroughly about this) and my nuchal scan was thicker in the second reading a few days later, which may or may not be due to error, though considering it was FMC I would say error unlikely...and they were great there, really. I wish I had just been in a proper state of mind!

x x x

[janski31]

Hi xkat

My scan is this wed coming but I had a scan at 16 weeks and nuchal had reduced slightly and no other markers were found so fingers crossed all will be ok at my scan.
What your nuchal measurement? Oldmum42 has advised me lots and been very helpful she has told me to go with my private results as opposed to my nhs ones so thats what I am going to do! x

[vanloadtovenice]

Hi, my nuchal fold measurement was at the very top end of the normal spectrum, so on the NHS scan I would presumably be high risk, as this is all they measure. However, my FMC scan reduced my risk to something like yours, and was so thorough that I chose to believe in it rather than the other result.

I agree though, it is very tricky. I'm not sure that it is really helpful for the NHS to offer a nuchal if they only look at the fold measurement on it's own. Surely this means that a lot of women are going through unnecessary heartache and invasive testing?

I would speak to the FMC, but if they are not concerned, then nor should you be (phew!)

[oldmum42]

I've been helpful? ! Awww shucks.

I just spend far too much time reading up on medical matters!
I did choose to go straight to CVS in this pregnancy without Nuchal measurements (42 and very high risks for other reasons). The CVS was fine, if slightly scary - the staff were great and very calming, and the results were back in about 3 days (all was fine). It doesn't really hurt - maybe for a second or 2. I was luck to have an anterior placenta, and this means good, easy access to the cells they want to sample.

From what I've read, the risks of CVS and Amnio are exaggerated - as needles are finer than they used to be, and ultrasound much better (and it's ALWAYS done under ultrasound these days), and that most MC after these procedures would have happened anyway (you are testing "high risk" babies so more of them than normal will will mc). Sometimes of course, the procedure does cause the mc, so a bit of caution is sensible - Testing is not right for everyone.

[janski31]

Yes oldmum42 you have!!

You might want to throttle me if I ask you this again.... but I just can't help myself!! Was it really a good sign that they didn't find anything wrong at my 16 week scan???!!!

Its just your sooooooooo knowledgeable! Sorry x x

[Margie32]

Hi xkat

As one of the few people to have had a miscarriage as a result of an amnio, I would advise you not to have the CVS with the new results. Everybody says the possibilities of having anything go wrong after an amnio or CVS are very slim, and it's true, but if you're the unlucky person that it happens to it is incredibly traumatic. Like you my possibilities of downs were given as 1:74 but the results later showed that our son did not have downs.

If your dates were wrong when you had the original NHS screening then the results become very inaccurate. We were told that any variance in dates can make a huge difference. It sounds like your FMS screening was much more thorough, and I'd put a lot more faith in them if I were you.

Good luck.

[oldmum42]

Janski, no I won't throttle you......

From what I've read....... they can tell quite a lot at 16 weeks. Any really major heart problems (such as there being the wrong number of chambers) will be obvious - in fact with my current preg (which had an abnormal heart rate in the early weeks), I had a scan at 14 weeks and they looked at the heart and were able to say "no gross abnormalities" Though I think more subtle problems would need a later scan around 20weeks.

Serious heart problems are linked with quite a few chromosome problems, or can be a problem that just happens on its own.

If no nasal bone is seen by about 13 or 14 weeks, this is an indicator of Down, and some other problems too - but some babies never develop a nasal bone, and are normal.

Some chromosome problems lead to other physical signs like very small/very large head, unusual feet/hands or facial features - a lot of these would be visible at 16 weeks, but probably only to an experienced U/S operator.

Your private scan results were good, nothing obvious showed in the 16 week scan - there are no guarantees in life, but all the signs are good.

Margie32 - sorry to hear of your experience of losing your DS after amnio, that's awful.

[ledkr]

Thanks everyone for this interesting thread.I am 11 weeks and am off to fmc on 28th for my screening. Dont do it on nhs here cheltenham but you can pay more than fmc and have it done by the nhs Drs who do not test for any of the other factors apart from nucal and bloods. Choice for me was easy then as you can see.It has made me believe even more that we are doing the right thing despite critisism from some.
Janski and xcat if it helps you decide-i was going to have cvs no matter what but after reading the really sad posts on mn from people who mc after and margie 32 above re the amnio i think if i get agood result i wont have it.
Old mum i am older 43 nana but can i come back to you when i get my results you seem very knowledgable and easy to talk to. Good luck to everyone making tough decisions

[oldmum42]

Hi Ledkr, I'll be ALMOST 43 by the time DS4 arrives.... not that it's a competition !

You are right - it has to be everyone's choice about the tests, just look at all your factors and family situation and decide what's best for you - no one else has the right to criticise. MN posters are usually a good bunch when it comes to this sort of thing - there's a lot of strong feeling out there, but most people realise it's about individual choices at the end of the day.

I do think people need to think through the what-ifs first, before testing. What would I do if??? How would it affect my family if???? etc, etc.

I just HAD to have the CVS - I'd rather know, and the risk profile just from being 42 was pretty high about 1:40 for Down, but about 1:20 for the total risk of any trisomy or sex chromosome problem (you can get a missing X or Y, or multiple copies, each is a different disorder). Obviously that still means 19:20 babies are just fine....

I was at even higher risk as I had a mc caused by t14, which is very rare and suggested (age related) non-disjunction of chromosomes at the point of conception. This seems to be a major cause of mc in older woman. My consultant put me on high-dose (5mg) folic acid (reduces the risk of non-disjunction) after that mc, and a few months later I got preg with my current pregnancy - now 25 weeks.

CVS tests for the most common chromosome problems, but if you have ever lost a pregnancy and tests have shown what the problem was, they can also add a test for that chromosome as well, while doing the "fast results test". The test went fine and was all clear.

GETS ONTO SOAPBOX.......
Our decision to go straight to CVS was linked to our decision not to continue with any pregnancy which was diagnosed with a serious life limiting condition (our decision, obviously not all will agree with it), to me it's an awful situation to be in, but better a termination at 13 weeks than at 18 or 20 weeks after the routine NHS tests - here you can't get the bloods till 15-18 weeks, and then you need an amnio to diagnose, all of which takes time. I was just not prepared to wait until 15-18 weeks to get the blood done.

I actually find it pretty shocking that many areas of the country are denying women the early screening tests which would allow them to make an early choice about their pregnancy. Not everyone can afford to do the private tests - so less well off families are being discriminated against, IMO. We are lucky money is not an issue, but in any case, in my area, any woman over the age of 37 who wants cvs gets it on the NHS - but many don't know this, and don't know they need to ask for an early booking appointment, so miss the "window" for doing the test anyway!
GETS BACK OFF SOAPBOX.

[janski31]

Hi Oldmum42

Thanks for your advice yesterday I am going to print it off and keep reading it before I go in the room to be scanned it will keep me calm thanks again will let you know how I get on x

[ledkr]

Absolutley aggree. How is it fair that some people are getting it done free at 35 in some ares and i am paying at 43.I didnt really have the money but was made redundant recently so will take it from meagre payout.Here i can have triple test and amnio but as you say that leaves yur choices fairly limited adn also the effect i am sure upon a person having to terminate AT ALL never mind at 20 WKS is unimaginable.I have had it pretty hard over the years and my mental health has stood up remarkably well considering but i do feel that a late termination would probably be the final straw.
I am amazed at the sympathy and understanding on these threads as i know it is an emotive issue but people have been very honest and frank.
On the issue of nhs v FMC i find it interesting that even if i pay to go private at my local hospital they only test the blood and nuchal fluid.When i questioned why they didnt do the other tests as the fmc do i was told they were "inconclusive" wind back 16 yrs when i had breast cancer very invasive but with no gland involvment therefore requiring no chemo. At the time the private clinics in London were giving all ladies with breast cancer chemo, when i queried this i was told it was "inconclusive"Pushed for it had it and am stil alive...two years later they began giving it to all ladies regardless of glandular involvment. Sorry if you dont understand the relavance of this but i think you will. Anyway the posts on here kind of prove that it is pretty flippin conclusive.

[ledkr]

Janski when is your scan? good luck btw

[janski31]

Hi ledkr

Its wed thank you x

Very interesting point you just made I totally understood what you meant x

Hope your appointment goes ok on the 28th.

[oldmum42]

Janski, good luck on wed, hope all goes well.

Ledkr, yes, shocking that new treatment/test are often not taken up by the NHS.

DH (a doctor) is often very, very frustrated about the reasons behind this - often a particular treatment/test will come out of a particular budget, but the new treatment/test may be done by a different department, meaning it's from a different budget, or under the control of another manager, so may not get approval.

Treatments/tests which could save the NHS a lot of money in the long run get pushed aside because of targets on individual areas/departments - crazy but true and it's the paitent who suffers (and the tax payer too!).

I have a good friend who underwent a heartbreaking termination at 21 weeks, more than 10 years ago - she is still 100% sure she made the right choice, but she is still very much traumatised by the experience, that's one of the reasons I feel it's brutal and shamful that early testing is not being made available to all who want it (gets off soapbox yet again).

[ledkr]

yes and people having boob jobs (i know two people)on nhs cos they are depressed.
It cant be right that it depends uopon where you live can it? The other point is as i cannot have n scan and bloods on the nhs and have to pay the tests that they do should no longer come under nhs guidlines should they. surely i then become a private patient.
While i am on my box they also told me matter of factly when i was 26 that i needed my ovaries out. Checked it out with a second opinion from the marsden and low and behold my tumour was non oestrogen receptive.That was one uneccesary expensive op and possibly years of problems eg osteo arthritis etc.that i saved the nhs funding. Does make me cross too.There needs to be a president set so that everyone gets the same treatment.
Oh yeah and I have to have my baby 20 miles away as they are closing my local mat unit which was built only ten yrs ago. I have to have a c section but my boys dont drive so will be reliant on lifts or wont see baby till im home and dh will be back and forth to get dd form school costing us a fortune in petrol. Hrdly the relaxed bonding experience i imagined.Im getting off now. Lovely to rant with you old mum.

[oldmum42]

ledkr, Shocking, awful what you say about the ovary thing - I assume at the time, most hospitals just didn't do the kind of tumor-typing that would show it was oestrogen reseptive or not - it's fairly new technology. I'd HOPE that now, any fertile woman would be typed before they suggested taking away her ability to have a child. I think tumour typing is widespread now, as many new treatments are geared towards the tumours exact nature. Good that you got a second opinion - too many think dr knows best (My DH always tries to put all options to patients but finds many don't want to choose, many want to be told!).

Shocking also about the local matty being shut, but not surprising. But 20miles isn't far..... not to me anyway... in Scotland, 20 or 30 miles is local! 70 or 80 miles to the nearest proper hospital is not unusual and we are talking awful roads too. Thankfully I currently live close to a large teaching hospital, so facilities are very good.

I'm also having an Elective. Last week I was given my section date (already!), so 22oct is our big day.

[cagh]

Hello All,
Well read all the posts on this thread and thought I would throw my few peanuts in... I am 34 and have 2 healthy children. Last year I miscarried - I had a molar pregnancy and had to be monitored while my hcg levels returned to normal. After waiting a while we decided to try again. I found out I was pregnant in April and was offered a early scan (8weeks) to ensure it was a pregnancy and not another molar. Saw heart beat and they measured baby and said I was about 6 weeks. Anyway, I was happy. Had all my blood tests done at 10 weeks and happily went to my 12 week scan. During the NT scan the babies neck was measured and then measured again. I was asked if I wanted to know my risks (as you know they combine the nt scan measurements, your bloods, your age and weight which gives you a scoring), my result was I was high risk 1:10 for T21 (downs). Was totally shocked. Went in a room and a midwife came and saw me, discussed my options. She suggested I have a CVS done as soon as possible, I agreed to do the test and appointment was booked for 3 days later at another hospital. During our 3 days wait, I called all over - I called charring cross (who I was under for my molar pregnancy to find out if my result was due to my past molar or potential new molar), which I was told it was not relevant. I called the hospital to cancel the cvs, as the more I researched the more I worried, but again, mw convinced me it was better to find out now than at 16 weeks/ 20 weeks when my baby was moving etc. So we went ahead with cvs, procedure was straight forward and I patiently waited 6 days for our results. Result tested positive for T21, T18 and T13. Full karotyping result would only be available in another 2 weeks (which I later found out failed and they were not able to produce a result). Basically, what they were telling me is our baby didnt have a chance. Got a call back from my local hospital and they felt further ivestigations were needed. See, during my scan all measurements and development of our baby appeared normal. So it did not make sense that our baby tested positive. St George's (where I had the cvs) results indicated my baby has Triploidy. Which is a extra set of full chromosomes - babies like this are incompatiable with life, I read the longest a baby has lived with this condition is 10 months. Anyway,last Monday we had an amniocentists (sorry can;t spell) done and before we went through with it all we looked at our baby. Again, our baby appears normal, developement is great and it is at the right size etc. Oh and there is a little button nose to be seen (I have been told that only private clinics use this bit of evidence but most NHS trusts dont because of ethnic backgrounds - not sure how true that is?) anyway, all our babies bits and bobs are visable. For the last 4 weeks I have been in a bit of pain - uncomfortable and felt like my tummy has really grown, during my scan they noted both my ovaries have cysts on them. one measures 90mm and the other 100mm - so that explains a lot (soreness)! The consultant asked if we had had ivf - which we replied no - because the cysts are ovarian hypertension(i think) cysts which are common with ivf - no idea! So now I am waiting the result (which i should get next week) and fingers crossed my results will give the results of our scan which is our baby is perfectly fine. So the reason I threw in my little peanuts worth - well, I really don't know that after all we have been through if these blimming tests are conclusive enough to make a life changing decision. I really don't know what to think about it all, but knowing what i know now, i would not have done the cvs. The cvs is based on your placenta and yes your placenta's genetic makeup should be the same of the baby, but what if it isn't? If your scan is fine and it is just because of your bloods, age and weight, well now that I know what I do now, i would wait for the amino as this test does seem to be more conclusive as the fluid around your baby is from your baby and it can't be wrong (or can it). I just hope it comes back good. Odds are against me, but I have to remain hopefull and pray that the little baby that is kicking my insides is as perfect as they look. Yep, I started this confident and ended somewhat confused, but who wouldn't be?

[oliviacrumble]

Wow cagh, what an experience!

Will be keeping everything crossed for you that all is well.

Please let us know how you get on>

Take care. x

[oldmum42]

Hi CAGH,

You are right, CVS can RARELY throw up a really strange result if the placenta is mosaic (has the cells of more than one conceptus or one conceptus where it's been fertilised by 2 sperm for example). Sometimes if only some cells in the placenta are abnormal (mosaic), then it is possible that the foetus can develop normally, but the risks with the pregnancy could be increased, depending on how the function of the placenta is affected. Sometimes the foetus is also mosaic (some normal cells, some not)

It's very unfortunate indeed that the second, full result part of the CVS did not culture (fairly rare but it does happen), as I think this may have been able to detect mosaic-ism.

I hope your Amnio comes back with a good result- and that all is well with the baby, I think it's a positive sign that the baby looks normal and is growing at a normal rate.

[cagh]

Still waiting results - thought I would get them today. This waiting is doing my nerves in. Not sure about the Mosaic? Do you know if the amnio will give this result?