DS risk 1/60 and am over 40. Anyone else had similar risk?

[Oldasthehills]

I had a nuchal scan last week which looked good (nuchal measurement 1.3mm) but with my bloods and age my risk is 1/60 of DS.
The staff nurse who called me acted like this was terrible news, and obviously it isn't great but I have medical friends who say this level of risk is not too surprising given my age.
I'm going to the Fetal medicine centre in Lond for cvs this week depending on what their risks say.
Just feel very odd and nervous about the cvs hurting and the risk to this much longed for pregnancy. I have one ds7, had one mc, and this is the first time I've managed to get pg since then! It took three years to get pg with ds!

Do many people miscarry after cvs really? Some people say that they quote 1% mc to cover themselves but that it is actually quite rare.

Would love to hear from anyone who's been through this!

Hi i had a 1/12 risk of ds with ds2 and i was only 29. So i know its a really scary time. I had an amnio not a cvs and i came straight home went to bed and dh waited on me all day.

Ds2 is fine and ds3 was a 1/17,00 when i was 31 and dd3 was a 1/90,000! when i was 33.

Ds2 also had a single echo focil [sp]? which decreased chances by half again.

I know its scary but try to relax a little too stress doesnt help.

Hope all works out xx

depending on your exact age, 1/60 sounds like the "baseline" risk for a woman in her forties.

what woudl you do if the cvs turned out to show that your baby had DS?

Thanks sugarpear and bundle.

Bundle, I don't know that yet, until we know, I just can't begin to imagine how I'd make that decision. But I'm keen to cross that bridge when I come to it and not before!

Were i live, i have to pay £180 for a nuchal scan.
I cant afford this, so i am going to not have any blood tests, i am going for an amnio.
I need a definitive answer and not an estimation, i cant stand the worry. You have absolutely made my mind up properly for me with your experience.

oldasthehills, I would strongly advise you to at least have plans a, b, c in place BEFORE you go for any tests.

Once the results are in it will be much harder to think straight. Is your instinct to continue a pregnancy with a DS result? If yes, then this might mean you would not even have the test and then wouldn't face any possible m/c risk.

if like donbean (and me - have had 2 amnios) you need to know (maybe because you might not continue the pregnancy) then that's obviously a different ballgame.

In my 2nd pregnancy I had a high risk of Edwards syndrome, which is normally considered not compatible with life. If I had had a positive result I would have terminated the pregnancy and was 99% sure of that before I had the test, indeed it helped me to decide to have the test.

oldasthehills, please don't think I'm being mean, or pushing you towards a decision that you have to stick to - you can always change your mind, but it's good to know (imo) what you're changing to/from.

I just think this kind of decision is something we don't give much thought to until we have to.

Writing things down can help, and obviously you should talk to your partner too.

Many people on MN have been surprised by the strength of feelings their partners have about these things.

Sorry Bundle, actually I didn't realise you hadexperience of this from your post.
Of course I am thinking about it. I may even not have the cvs depending on what they say after the nuchal. Apparently my risk may come down enough to reassure us. I have no idea if that's possible. I just want to wait and see.
I may defer the cvs til next weds anyway to have time to think.

To be honest I don't know what I'd do. Dh is for not going ahead with a DS pg. I'm more torn. But I'm much more frightened of the mc risk at the moment. For someone as inffertile as me, the thought of losing a healthy baby is the only thing I can think about at the moment!

But thanks for the advice.

the fact that it took a long time for you to get pregnant is a very important factor in deciding whether to take the test, even if your dh is sure what he'd do, it's your decision, xx

both dh and I think this is, realistically, our 'last chance'.

So not much pressure then!

The thought of losing a healthy baby for this test though.... it just completely does my head in.

I also cannot imagine actually terminating this pg when it's almost certainly my last and I'm starting to show and everything. Luckily we've told no one at all except m, s and minlaw and finlaw. It's a relief at least that I don't have to fend off questions or concerns. Haven't even told my best friend, dread her finding out in a way - she is going to be hurt. But I think, tough, some things in life you go through virtually alone!

Thanks for your help Bundle I appreciate it. My strongest instinct is to protect this little life, not end it. So I'm a long way from where I'd have to be to terminate.

To me it is all down to what you would do with the CVS result if you had it.

If the results came back that the baby had Downs Syndrome would you carry on with the pregnancy or would you choose to terminate.

If you did nothing you could still m/c, though less likely, but you wouldn't know until the birth whether the baby was NT or Had DS.

It is all about what you can live with the most.

I went to the Fetal Medicine Centre for CVS with my fourth pregnancy. They were fantastic.

The procedure was a bit weird, but not painful. The doctor who did the scan for me (the main man does the actual CVS himself and is just lovely, very reaassuring) said that they weren't allowed to publish their miscarriage rates as they were a private practice, but he said "Put it this way. They are as good as it gets." Which I took to mean that they have never had a subsequent miscarriage. I read a lot before choosing to go there and it seems that the skill of the practitioner has a lot to do with successful outcome.

Afterwards, I felt a slight cramping feeling, like very mild period pains. I didn't have to take it easy or anything. I think in this way it is different to amnio.

Hope that puts your mind at rest a bit about the actual procedure.

oldasthehills, the pregnancy is obviously very precious to you and that will obviously have an impact on what you decide to do (though I think you already have..)

I hope posting has helped you a bit, xxx

my dh said it wouldn't be fair to ds to have a child with DS. That the cost to our lives and to ds would be to great and that when we're dead all the weight of care will fall on ds. But I think ds would adore to have a sibilng even one who's a bit different to other people.
But also, I'm not the most patient person. I think you have to become a kind of selfless person to care for a poorly child. I imagine taking it out on ds or dh resenting me for going ahead and our relationship suffering (which is so strong now and we value it so much) and that's a horrible thought!
Also, dh says there is still a terrible stigma for DS. I don't think that's true any more but he feels it strongly.
Do you think there is still a terrible stigma?

I was 42 when I became pregnant last year,my test results were 1/30.I had an amnio which was uncomfortable more than painful.I gave birth to a large healthy baby who is one today.

I agree with trying to work out what you would do with the results before hand.

I was all for terminating a pregnancy where the child had problems until I nearly lost my first one. After that I refused all tests and my youngest son was flagged up of potentially having Edward's Syndrome. I refused all further tests as we wanted the baby full stop and I wasn't going to risk a m/c having already lost 2 babies.

FWIW Babies with Edward's Syndrome can live for a while. I know of a girl aged 9 living with the Syndrome and by all accounts having a fabulous time.

Oldastheills, so sorry you have to go through this. I think your friends are right and your risk is mainly just age related. At 36 my age only risk was 1 in 240 and it apparently starts to go up pretty fast after that. So your test results might have been just fine and this is your "normal" risk. After nuchal my risk raised to horrific 1 in 2 and we had cvs, which came back clear. I was told that in the hands of an experienced consultant the miscarrige risk of cvs is less than 1%, e.g. professor Nicolaides at Fetal Medicine Centre has apparently performed thousands and has yet to have a cvs related miscarrige.

Congrats Lillypie and happy birthday to the little man.
Thanks so much for all these posts I really appreciate it.

thanks aiti, that is encouraging!
thanks everyone, mumsnet is totally extraordinary! It's so odd having this huge thing happen in my life and I can't talk to anyone about it much except so many of you!

Many people with down's syndrome live independently, with different degrees of support and society as a whole is changing in its attitude towards "difference".

Also, there are many other problems which cannot be diagnosed antenatally which would affect a child in a much more profound way.

NAB, a friend of ours had an (undiagnosed) Edwards baby a year before I got pregnant and her son died after 2 days, a much more typical outcome for the syndrome

That is so sad, Bundle.

It is more common in girls too.

I know.

Guess who didn't know, and said "ooh you must be getting lots of sleep, you look great"

she was v nice about it, and I was the one who cried

she had a 3rd child and now helps a lot with SANDS

Hi oldasthehills (great name - wish I'd thought of it!) I'm 42 and preggie with dc2 (had 1st at 41!) Like you I had an OK scan (2.8mm) - but bloods were dreadful. Consultant said 1 in 10 chance and then couldn't get us a CVS on the NHS - so went to Fetal Med Centre - who were FAB. They re-did scan and bloods - and it was much worse....1 in 2 chance with a nuchal fold of 3.4mm. We opted for CVS there and then. And no - we didn't really know what we'd do - we also decided to cross that bridge once we had the info.

CVS was really, really uneventful - took about 20 seconds (prof Nikolidies did it) honestly didn't know the local anaesthic was done. Felt like a swift, cool, wibbly sensation. Went home - lived life as normal (although did milk it so dp made tea and got biscuits etc )

Waiting was the worst thing - we did discuss what we would do and we really didn't come to any conclusions - as we just didn't yet have the facts in front of us. But results back totally ok......no chromasonal abnormalities at all. So we're proof that the worst case scenario can turn out fine. Am now 28 weeks...and HUGE

I know a lot of friends who've had amnios and CVS and never had a problem - but there are people out there who will have had a very sad outcome from the procedure. Personally I think the Fetal med centre is one of the best places be if you're going to going for it.

HTH and Good luck

Oldasthehills The risk you got was not explained properly as that is just based on the nuchal result and your age. I'm 35 and had a combined risk result based on blood tests plus my nuchal fold result of 1:1900. The risk just on my age alone would be 1:330 and the sonographer wouldn't even give a risk based on my age and nuchal result to me at the time as she said it would be meaningless. The blood tests are apparently far more accurate as a reflection of risk than the nuchal fold test and especially in combination.

The fetal medicine centre is meant to be brilliant - my boss has been and recommends is very highly as do lots of MNrs. Good luck with it.

You don't have to be a saint nor selfless to look after a child with SN and children with DS are not usually poorly (unless they have associated heart problems which these days are usually corrected in infancy). I know you don't because I'm sat at work doing a job I enjoy whilst my severely disabled child and his NT siblings are at school. My son's disability affects him more than most cases of DS and could not be picked up until he was almost 3.

There's no point really deciding about the CVS until you've decided what you would do with a positive result.

I would say explore it first because once you're on the testing conveyor belt it can be difficult to say no. If your CVS comes back positive then there will be an assumption on the part of the medics that you will be terminating- so if you decide that's not what you want you have to be strong enough and certain enough to go against those assumptions.

You can ask for more detailed scans at a later date that look for soft markers if you become concerned about knowing one way or the other, but want to keep the pregnancy regardless.

oldas thehills,

Just wanted to tell you my experience.

I had an unplanned pg last year at the age of 40. My screening came out as 1:50 which is slightly higher than my age risk which was 1:67.

We went to see the consultant at the hospital for some advice (he was actually the person who did the amnios at our hospital). I was too late for a CVS as it has to be done before 14 weeks. However, I would not have had one due to the risk of mc. (I had a mc at 9 weeks previously and knew I didn't want that to happen again if I could help it).

Anyway in the end I found that I couldn't even bring myself to risk a mc though having an amnio, which has a lower mc rate. So in the end we decided to leave it and wait to see what we got... We were also told that markers could be looked for on the 20 week scan...

The consultant agreed that if there was no way I would abort for down's syndrome and what with the concern over mc then no further testing was the right decison for us.

Moving on a few more weeks into the pg I then suffered a late miscarriage 1 day short of 19 weeks. This was obviously devastating but what it did confirm to me was that I had made the right decison for me about further testing.

Yesterday I had another appointment with the consultant to go through the post mortem results. My daughter did not have down's syndrome.

I sometimes wonder how many over 40's get a high risk screening just because of their age. My nuchal fold measurement was 1.6 mm btw.

Good luck with whatever you decide.