Mumsnet Talk

I'm 38 years old and am 12+4 pg with much much wanted DC3.

I've just been called by Babybond with results for my scan and blood test for my nuchal scan. For my age I have a 1 in 112 risk of Downs, my hormone levels give me a 1 in 240 chance, but the adjusted score for me personally is 1 in 38. This is high risk.

I've just come back from seeing my GP who was lovely, but said that she thought it was a serious enough result to warraant a CVS.

I am PETRIFIED. I don't know what to do. I think I'll probably hve the CVS done. Although I know this carries a risk of MC. Although I don't know what I'll do if the CVS comes back positive for Downs. I have 2 other DD's (7 and 3) and a lovely DH who is incredibly supportive.

I've had 2 m/c before this pg, so it's incredibly hard to get these results.

DH and I are seeing private OB/GYN on Saturday to get some further information.

I'm just a soggy weepy mess at the moment.

Any advice would be very gratefully appreciated.

Thanks.

I'm so sorry to hear that. It sounds like now you have the first result, you feel almost obliged to 'finish' the testing and find out for sure or not by having the CVS.

Maybe one step at a time. Test first, think about result of that when it comes in.

Hope you're going to be OK. I know you're not right now

HeythereSantasGirl - I'm so sorry you're going through this worrying time. A 1 in 38 result means just that - you have a 37 in 38 chance of having a baby who doesnt have downs. Ultimately having a CVS or Amnio is up to you - but it should give you a more accurate idea of the actual likelihood of your DC having downs or other syndromes. I'd suggest sitting down with your DH (is great he is so supportive) and drawing up your list of questions you'd like to ask the OB/GYN on Saturday - and discussing what you would do if the results remain worrying. Talking through things will help. I think there have previously been lots of other threads like this - which have included numbers which can be called to give you further info/help. Hopefully one of the ladies from those threads will be along soon.

HeythereSantasGirl, try not to worry too much, as dinkystinky said you have a 37 in 38 chance of having a healthy baby.
One of my best friends had a 1 in 9 chance result of her baby having downs, I remember her being deverstated. She had the amnio done and after a worrying wait, found her baby didn't have downs. The little darling has just celebrated his 2nd birthday.

We had a low result from our nuchral fold test but like dinky our midwife told us that that meant that 15 other babies wouldn't have ds.
We had a blood test and it was all clear but it made us really think about what we were about.
I hope you feel better soon

Bump this at night when Eids is around (she is in Australia).

She has a daughter who is, by all accounts, the light of all those around her. Even if you are the one in 38, she will go a long way to convincing you that it is very, very far from the end of the world.

Ladies. Thank you all very much for your kind words and advice. I think to be honest, I'm in shock and can't see things clearly at the moment. DH is home from work now, and my mum and dad are coming up to help with DD's. So at least DH and I can do some research and see what we're up against.

Shock is completely understandable.

You will get perspective here. The bald reality is that it's overwhelmingly likely your foetus does not have DS (would you bet your house on 1/38 odds? No way), but even if it does, there are far worse sticks you could be hit with in life.

Hi Ninedragons. What you say is so true. I think I just need to try and keep it together til Saturday. Get more info from the consultant. Have the CVS. The cross bridges if we need to when we get the results.

Keep your fingers crossed for me.

Sorry to hear about your results but as had been said you have a very good chance of your child not having Downs.

I can only add that as the mother of a 2yr old with Downs, it is not the worst thing that could have happened. He was premature and had to have an operation at 5 days. However I saw many, many children in a worse state during his hospital stay.

I remember thinking that although my child had Downs he would have a far better life than some of the children I saw.

Do some research, and, although it is not all hugs and smiles and I do have some dark days and worries about the future for both my sons, I would not be without either of them.

Try to stay positive and good luck.

I've just had an amnio this morning because of a 1/168 risk from nuchal testing.

I'm glad I decided on the amnio but have found the whole past month emotionally draining.

Would you condier waiting until 16 weeks for an amnio? The risk is (I think) half that of CVS and it also gives you more time to think things through.

I'm on the other thread about amnio if you want more info on what the amnio involved.

It's a difficult decision to make and time to go through. I had a CVS with my 2nd a few months ago, and am now 36+2 weeks pregnant - we had clear results back.

The organisation AIMS - which has a website and telephone counselling helplines, was mentioned to me. It might be worth seeing if they can help you think through this, including what you'd want to do if the results come back indicating that the baby has Downs Symdrome. I hadn't completely decided but think that I would have preferred to be prepared.

If you do have CVS or amnio, find out how much experience those who do it have, as skill/experience can lower the risk a lot - I'm at an NHS hospital which has done combined nuchal fold/oodes testing for some time and perhaps has quite a lot of older mums, and the consultant who did it apparently has quite a good record.

Hi HeyThereSantasGirl, I know it's hard but try not to worry. My friend had a 1:16 risk, mine was 1:42. My pregnancy was confirmed Downs by CVS (and sadly terminated), my friend (who was 41 and hadn't had a period since she was 34!)was too late for a CVS by the time she realised she was pregnant, but paid privately and had some fairly detailed scans which looked at baby's nasal bone, heart etc. & this decreased her risk (though of course it wasn't a definitive answer like the CVS) She went on to have a beautiful, healthy little boy who's nearly a year old now. I am now pregnant again and just heard today that full CVS results all normal and I'm expecting a little boy. Have sons aged 20 and 11 and am absolutely delighted. I know that we're not there yet but am making a conscious decision not so spend the remaining 27 weeks worrying about baby's health. When you've had a CVS and it comes back clear, the next worry could be the 20 week scan. Then what if it's stillborn? So I'm drawing a line here and living for the moment. Make the decision that's right for you and try not to worry about what hasn't happened yet!! Good luck to you!

PTA Thank you for the positive thoughts about Downs. I know it's not the end of the world. I just need to research everything before making a decision.

Mogwai I think I will come and find you on the amnio thread. Thanks for the heads up. Hope the results come back clear for you.

Elkidee I will look for more info on AIMS. Glad that your amnio was clear. And hope the new baby rings you much joy.

Rubyriley Congrats on the great results. ANd your new son-to-be! And you're right. I don't know for sure yet. Will try and get some of that positive mental attitude going.

hello

i couldn't read without posting - not much i can think of to say except you are in shock and you need time to think, digest and think more.

Best wishes to you.

We had similar results with dd1. I refused a cvs because of the risk of miscarriage (I'd already had 2 of these too) so I just continued the pregnancy and prepared myself for whatever might happen. It was a very hard few months but dd was born at 40 wks and she was absolutely fine, gorgeous in fact!

If you are in London, the Fetal Medical Centre in Harley St do a thorough test which is non-invasive. We had this when I became pregnant again and it was very reassuring (they basically do a nuchal scan but look at other things too). It was around £200 and well worht it.
here

Do you know what the actual measurement was, Santasgirl?

Your age is one of the things that make a great impact on the odds they give you. Whereas actually, it's the measurement itself that is crucial. I don't have my book any more which says what the measurements should be but I expect I will be able to google it for you. It also depends on how many weeks you are when you had the scan done. For example, may have this wrong but I seem to remember that the measurement is "normal" between 1mm and 3mm (?) and the scan has to be done between 11.4 and 14 weeks. So a measurement of 2mm at 11 weeks is not such a good result as a measurement of 2mm at 14 weeks because the baby is bigger. Don't take any notice of my mms though as I can't remember exactly what they should be.

Do you know, I know of four people who have had their pregnancy blighted by being told their baby showed Downs markers. None of their babies had Downs. I know of three people with gorgeous Downs babies. None of whom had a clue.

I had a 1:80 chance of Downs with DS2 after the nuchal fold test. I was told that at my age (43 on delivery) I could not have got a much better result.

DS2 was due just after my 43rd birthday. As he was due to be an elective C section I could have had him while I was still 42. I wonder if they would have altered odds if that had been the case. Mad isn't it?

Have to thought about why you want the results? Are they going to make any difference? If the baby does have DS and you would continue with the pg, why risk a m/c? You can still prepare without knowing ime.

Hi there Santasgirl,

I'm sorry about your worrying results.

Just a thought and I hope you don't mind me mentioning it, but some months ago a friend of mine went to Babybond for this test and got worrying results, she then went to Leeds Fetal Medicine and got a total different set of results, much better.

She opted not to have the amnio and her baby was born perfectly healthy.

It's just a thought. Is it feasible to have another scan and blood test asap?

Good luck and I'm thinking of you.

She went to Leeds Screening Centre, Gemini Park, Leeds.

Balloonslayer Thanks for your reply. The nuchal transluncency was 2.40mm at 11+3 weeks. Although my LMP dates would have been 10+3. However an early scan at 6+3 put me one week ahead of LMP dates. Just wondering whether this might have something to do with it? I'm clutching at straws here. If you can point me in any direction of more info, would be very grateful.

Everlong I've just emailed another ultrasound centre to see whether I can get a second opinion. Obviously everything shut for New Year. But will be back on the phone first thing Friday. We're in Wimbledon so easy access to London if need be.

NAB I'm afraid I would need the answer. I would need to prepare myself for whatever I decided was right for me and my family.

Thank you all for answering this post. Especially on New Years Eve.

My nuchal was 2.7 at 13+1 (though scan said I was 14 weeks)

What about your bloods?

Message withdrawn

Did they give you a breakdown of your blood test result?

Good luck with getting a second opinion, I think it's a good idea.

Hi Santasgirl.

Try this page for some measurement stuff. I found it reassuring.

My friend who told me about the measurement/age thing basically said "you are NOT going to get a good result at your age." And she was right.

I think also you really need to consider the odds of 38:1

The thing is this: you have two children and are about to have your third. You would have to have thirty eight children, at these odds, in order to have one with Downs.

Or turn it around and imagine it's something you would want to happen. Would you gamble your last tenner on a horse with odds of 38:1? Nope, neither would I.

I guess it all depends on what you find more unbearable - having a DS child or losing this pregnancy. Percentages etc are less important than what matters most to you. If you really REALLY don't want to have a DS baby, than 1/38 is actually a pretty high probability.

I had a similar calculated chance of Downs with DS after the triple test, and remember a horribly panicky midwife rushing me in to the hospital to discuss what to do. The wonderful consultant said that at my age (41) and weight (I was a size 24) the accuracy of prediction from the triple test was debatable in the extreme, because I was so far from the norm of the population used to generate the prediction. (I actually found his fairly robust approach very reassuring!)

If, as I did, you then do the basic arithmetic, there is a less than a 3% chance that there is a problem - this is a 97% chance that all is well. People will invest large sums of money on those sorts of odds!

I had an amnio (this was 10 years ago and neither CVS nor nuchal fold scans were available where we were) and I can still remember the hellish wait for results. During that time, I realised that there was no way I would terminate. In the event my son was (and is) fine - just as the odds predicted!

So to sum up, the odds are probably not quite as bad as they sound, and you need to think very hard about what you would do with the information before you submit yourself to the stress of more tests. However, having had the fears raised, it is difficult to leave it there, and I guess in our own case it was good in the end to know in advance that all was well.

Hi, I can sympathise how you feel. I had a one in 76 chance of a downs. After the amnio and a long wait, it came back negative. Try to be positive although it is easier said than done. Thinking of you.

Everlong Bloods are: PAPP-A 1.1308 MoM and Free Beta HgC 1.7066 MoM. From what I've been able to read on internet, think the Free Beta HgC might be near the hi end. It's all so confusing. The report also says: 'Diagnosis: No obvious fetal abnormality. Low risk genetical screen'. ?????

Ballonslayer Have had a look on the link. Thank you. I'm outside what they think is the norm for 11+ weeks at 2.4mm. But, never say never.

*Riven. Yes I agree with you. But I do need to know. Just so that I can make the best decision I possibly can. Believe me, the thought of terminating makes me weep. I DO NOT want to go down this route if at all possible.

Message withdrawn

Cote and NeverSayDie Thank you for your advice. It does make sense. I think it's the not knowing that is so awful. I feel so utterly powerless. Least its only a couple of days before we see the consultant. Although he's being rather doom and gloom it must be said.

Riven Babycentre says: 'An NT measurement of up to 2.0mm is normal at about 11 weeks, and up to about 2.8mm by 13 weeks and 6 days. This is because the NT normally grows in proportion to the growth of the baby'. But if you can find me somewhere that says 3mm, I'll gladly take it!!!!!

Message withdrawn

I got a risk of 1:24 at the age of 43. Before I had the amnio (at DH's insistence) the consultant did a wonderfully detailed colour scan of the baby's heart and showed us that there were no problems there. Would that be an option for you?

Message withdrawn

I got a result of one in eleven with 3.1 mm at 12 weeks ( and a few days), when I was 32 years old. I had the CVS at St George's where there was a doc with a very low miscarriage rate (1 in 300 rather than the average 1% risk IIRC). Anyway, all was fine, and I went on to have a lovely healthy boy. It was a horrible time though, and as I went on to have other unrelated health problems during pregnancy, my boy is an only child.

Good luck, and I hope everything works out for you.

My triple test result was 1/250 for DS, which is the point at which you get offered an amnio around here.

I had the amnio several weeks ago, and got preliminary all-clear results two days later (paid for FISH).

Catweazle I'll take anything at the moment that could give me a clearer idea of whether the baby has DS or not. Do baby's with DS have heart abnormalities then?

Riven Yes, it does look a bit inexact doesn't it.

Glasto My GP told me about the guy at St George's. Good to know that he has a low mc rate. Will look into him and also FMC in Harley Street. Glad that everything turned out well for you.

Cote Is FISH just a quicker way of getting results? How much? Glad that the results were all clear for you.

As glastocat says, what matters is the miscarriage ratio of the amnio team (doctor who does the puncture + ultrasound specialist who guides him) at your hospital rather than the global average.

When I was pregnant with DD, I found out that in the ten years since this same doctor has been doing amnios there, he has had only one miscarriage and that was a 42 year old woman with other problems in pregnancy. That was 3 years ago and when I asked again recently I found out that there hasn't been another miscarriage since.

And the quoted 0.5% (or even 1%) miscarriage rate is no longer the norm, apparently:

A recent study, led by Keith Eddleman, MD, of
New York's Mt. Sinai School of Medicine, and published in the November issue of Obstetrics & Gynecology, sought to determine if amniocentesis still has the 0.5% miscarriage rate (one in 200 pregnancies) that it did 30 years ago, when the last significant research was done. Dr. Eddleman offered amniocentesis to 35,000 pregnant women; 3,000 women opted to have it performed and the outcome was the same for both those who had the test and those who didn't -- about 1% of the women in both groups miscarried.

In this study the amniocentesis-related miscarriage rate was 0.06%, or one in 1,600 pregnancies -- significantly lower than the 0.5% rate that came out of studies performed in the 1970s. Since then, there have been many innovations in amniocentesis safety, the most significant being the use of ultrasound technology during the procedure - doctors are able to view the baby and therefore determine where to insert the needle.

From here.

I paid EUR 190 for FISH. While expensive, we felt it was worth it to have the peace of mind during Christmas holidays.

Amnio results come back in 3 weeks. (Mine haven't arrived yet). FISH results come back in two days. These are preliminary results, though, subject to correction by full amnio results.

Cote Thank you so much. This is invaluable advice. Would these results tranfer to CVS as well I wonder? I will be looking around to make sure I get the best possible person. This isn't a decision that can be rushed.

Santasgirl... I saw it a bit more optimistically than you, that it mentioned 11 weeks and you are over that!! I found seeing that some babies have it at 6mm reassuring.

If you were 20, a result that you have got (which seems to me to be on the high side of normal rather than purely high) would have shortened your odds of a DS baby but your odds would still not be high risk ... because of the age ... but it would still be the same baby IYSWIM.

In answer to your question, yes heart defects are reasonably common with Downs. In fact one of my friends I mentioned before was told her baby's heart had a feature which was found in DS babies. Baby didn't have Downs.

Another thing scans can look for is for the bridge of the nose. People with DS have a different facial arrangement, and clever sonographers can check this.

When expecting DS2 I would have liked to have found out if he had Downs or not. He was unplanned and we were contemplating moving house so he could have a bedroom. It would have been handy to know if we needed to consider catchment areas for certain schools. But there being so safe way to check, we didn't.

A friend of mine has a DS with the severest sort of ASD. The impact of his condition on his family's life - and of course on his - is completely cataclysmic, far beyond that of Downs. There is no screening for ASD.

I sometimes think that we get hung up on Downs Syndrome just because we can screen for it. It is not the worst that can happen by a long shot.

no safe way

Santa's Girl

Re your bloods.

As I understand, the HCG should be 1.0 therefore yours is raised. Mine was 1.2. Raised HCG is associated with downs

Your Papp-A should be 1.0. Mine was 0.56. Low Papp-A is linked with downs. No idea about raised Papp-A

Hope this helps

Balloonslayer The more information you give me, the more i think it would be prudent to get another nuchal done (if I can find an appt within the time frame) and ask them to specifically check nose and heart. Sonographer did say that nasal bone looked good and report says there are no heart defects. I hope this goes in my favour.

Mogwai It's on my list of (endless) questions to ask the consultant on Sat.

There is only a 2 1/2 % chance that your baby has downs syndrome. This is not a big chance at all. If you choose to have an amnio there is a 1 to 2% chance that you will miscarry a healthy child as a result. I think it is easy to be panicked by test results but in all honesty the chances that your baby has downs syndrome are very low.

You should also consider whether you feel you could cope well with a baby with downs syndrome. I decided that I would be able to and that I would get a lot back from a child with downs syndrome. If I had already had a child however I would want to factor in the effect on my other child and maybe I would have felt less confident in my abilities to deal with the situation... I don't know. Give yourself time to think things through properly.

regarding nasal bone

This can be misleading.

About 73% of down's babies have no nasal bone visible on the 12 week (ish) scan. So about 27% have a nasal bone.

Also, beyond 14 weeks the nasal bone can be hyperplastic (and therefore enlarged) which can look like a "good" nasal bone. No idea if this can be true before 14 weeks.

As far as I'm aware you have to be additionally trained or using a particular machine to judge nasal bone presence/absence as a marker for DS. My sonographer told me our baby had a good nasal bone when I was 13+ weeks but the consultant qualified this by saying she wasn't trained or using the right equipment to be making this statement (my hospital doesn't currently offer nasal bone scannign as a marker)

Also regarding statistics, I'm 36. Apparently 1.5% of women who opt for a nuchal scan plus bloods are given a "high risk" result at aged 36.

So 98.5% of 36 year olds don't get a high risk result.

I'd have been confident not to have been in that 1.5% so was quite shocked by the result.

Ultimately, statistics are a useful guide, but the choice must come down to whether or not you could cope with a DS baby. Having worked with many DS children I was certain of my feelings on the issue but people are so different and what seemed clear cut to me may be less clear cut to you, less of an issue.

The main thing is that you have time to think and the correct information. It does no harm to book an amnio - you can cancel later but might feel better knowing you've got the appointment so there's some sort of end-point to the current uncertainty. It's the uncertainty I found hardest to cope with.

In hindsight, the only thing I would have done differently would be having a second nuchal test. I've always had an inkling that the woman who took the nuchal fold measurement did it wrong, as I met a few other people in hospital who had been assessed as high risk by the same woman. Anyway, I would make the same decision again re having a CVS ( although now my boy is 7 of course the thought of risking losing him chills my blood). Stay strong, I know its no comfort, but chances are you'll both be fine.

Mogwai Thank you for all the information. And yes, the uncertainty that is crippling me and DH at the moment. To get some type of answer would be great.

I do need to work out whether we choose a CVS or amnio should the second nuchal not be practical (for time reasons) or that it gives us the same results.

I think its probably safe to say that this rounds off a real annus horriblus of a year for us.

Glasto I'm clinging onto any hope that I can at the monet that this is just a horrible episode that we have to get thru.

Just wanted to say thank you all very very very much for all the information, advice and kind words.

DH complete convert to MN. He's staggered that women rally round each other so quickly in times of need.

Wishing you all a very peaceful and prosperous 2009. Hope you all have a wonderful night whatever you do. Will raise a glass (of lemonade) to you all at midnight.

If you believe in anything sepcial or god like, then if you have a chance, would you send up a little prayer for my LO. xxxxxxxxx

I had the nuchal/blood test 3 years ago this coming Feb.

I was 38 at the time, my blood results were:

Papp-a 0.43 and hcg 2.01, my nt measurement was 1.4mm. My risk was 1:390. I was 12w4d

Your blood result looks very good imo and your nt measurement is still below the 2.5mm that they like it to be.

I would get another scan asap like you are intending to do and see what it comes up with.

Thinking of you and your little bean tonight x

What I'm trying to say is that bloods were pretty dire, but my nt was good. The result was a beautiful little boy called Gabriel.

Btw will definately keep you lo in my thoughts tonight x

Good luck - it is a horrible situation to be in, and even worse if you feel that you are being pushed to a specific action that you are not really happy with. Remember that the chances that everything is OK are still far greater than the chances of a real problem.

I think the only other advice I would give is to treat any test that gives you odds (one in 38 or whatever) with a healthy amount of scepticism. The only way you can be 100% sure that the baby has Downs is after someone who knows what they are doing checks their chromosomes. And that still means an amnio or a CVS. While I devoutly hope that the marker tests have been refined since I went through all this, the fact remains that any 'marker' is subject to at least some uncertainty. And relatively few doctors or midwives can explain the real significance of that uncertainty at all clearly.

And I guess that the fact I am calling a 15 week foetus a baby makes it pretty obvious that I would not have terminated the pregnancy even if my son had had Downs. That doesn't mean though that I am not devoutly grateful that he didn't.

Another thought that struck me last night, about our attitude to the odds given.

When I was first pg with DS2 I found that my odds of him having DS - without any testing - were 1:40, as I would be delivering at 43. (As I mentioned before I was lucky enough to get them lengthened after the NT.)

On that basis, if you had a friend who was contemplating trying for a baby at 43, and asked your opinion on the risk of DS, what would your advice be?

As you can tell I am leaning towards you trying to see your odds as not so bad. But if I was feeling as you do then I would definitely try to get another nuchal scan done, and if still unreassured, then perhaps seek out someone like Cotedazur's doctor with a really good track record and get the CVS done privately.

Hope you are feeling a little better this morning. xx

Morning Ballonslayer. You're up early. DH let me sleep in. Bless him. Rough night as mind playing very bad tricks on me. So not a lot of sleep. But at least one day closer to seeing consultant and trying to get another nuchal booked.

Everlong and Neversaydie More wonderful advice. Thank you for your thoughts.

Just going to have to keep myself busy today (not difficult with 2 DD's!) and try and get thru anyway I can. I must remain posititve. And your comments are really helping me. Thank you.

Message withdrawn

Take care today Heysanta, try and keep positive thoughts going, will be thinking of you.

I just wanted to let you know my thoughts are with you. I remember I was told I'd have to wait a week for results, but they actually only took five days, so I hope you get a happy phone call soon.

Hmmm. The more I read on here, the more it looks like you're going to be given a high risk status pretty much no matter what your test results are if you're over a certain age. I'm a late one too and have my NT and blood on Monday. Next week is my last week before being outside the test gateway so I think I may try to get an appointment with the Fetal Medical place others have recommended. It's a bit of a hike for me as I'm a good 2 1/2 hours away but I think it'll be worth it as I reckon I'm going to get a high risk result on Monday no matter what the measurements are purely due to my age.

To the OP, my dh has also been Googling and has seen nothing but people getting bad results and then having them redone at a specialist centre, only to have extremely different (better) results so I would get it done again if I were you. Lots of luck and please try not to worry!

Nekabu Thanks for posting. I wish you the best of luck for Monday. We've been in a living nightmare for the last day or so. Trying to decipher info from the net and also all the info that the lovely ladies on here have posted.

Am going to be posied over the phone early doors tomorrow to try and get thru to FMC.

Very best of luck, HeyThereSantasGirl. I have a feeling we'll be on the phone to them too!

HeyThereSantasGirl, there's a load of info on their website - http://www.fetalmedicine.com/fmc/ultrasound/11-13-weeks-scan/ has lessons on trisomy 21 and other test lession stuff. It does go on a bit but it seems to be worth watching.

Was given 1/33 at FMC. Subsequently decided to have CVS. If you book an appointment on a Wed and ask for Prof Nicholaides to carry out the procedure you'll be in the best possible hands. He does CVS procedures all the time. Miscarriage risks depend on how often the consultant does the procedure, which makes sense. I think it also depends on where the placenta lies -- I'm no expert but remember reading this at the time.
You'll get the results back 2 days later by phone.
All best wishes -- it's not a nice place to be.

Nekabu Thank you. Will have a look in a mo.

Doodleduck I've heard v good things about Nicholaides. Will try and get in to see him. If he's the best, then will move heaven and earth to see him. I hope your results were what you were hoping for. And you're right, it's a bloody awful place to be. xx

Just to add my bit. I had a 1:2 odds with DD2- so I know that feeling of shock. We did our research and to be honest we didn't know what we were going to do -except that we had to know.

I went to Prof Nikolidies for my CVS as I'd lost trust in my hospital and it was the least stressful thing about the whole emtional rollercoaster. He was honest and said that scan and bloods were 'as bad as they could get'. Luckily at the fetal med centre the results are back in two days - and all was clear of Downs. Obviously a relief and now DD2 is 7 mnths old and perfectly healthy.

However - I have friends with LOs who have conditions much worse than those that can be tested for.

It's a horrid place to be but remember they are just odds and not an exact science - even a 50 50 can go your way! Good luck x

Jeanjennie What an unbelievably tough time you must have gone through. Thank you for sharing your experience. And yes, you are right, they are just odds. The more research I do, the more I understand this.

I just wish I could wave a magic wand and for it to be tomorrow morning and I'm speaking to someone at the FMC. It could be another long, sleepless night.

The other good thing about CVS at FMC is that the doctor told me at the end of the procedure that the risk of miscarriage was significantly reduced. I was really cautious (now I think probably over-cautious) for about 10 days after the procedure, not least because it twinges and was a bit sore when I laughed for a couple of days afterwards. Procedure itself lasted no more than 2 mins.

You're right, it's all about odds. The results were fine and I haven't had a problem with the pregnancy since (28 weeks now) but it's v. scary when you think that the decision could result in the miscarriage of a healthy baby. For me that was the hardest part of it all. However, as the Downs' risk was higher I decided to go for it + the fact that waiting for amnio which in itself is no less risky really, would have meant waiting even longer, torturing myself!

Hope you get hold of them tomorrow and that it all goes well.

Hey Santa sorry for the delayed post.

When I found myself contemplating an amnio last year I felt exactly the same way as you - I HAD to know either way, and in the end that meant accepting the risks of the procedure, but it's a very individual decision.

Totally agree with what others have said about FMC and about Nicholaides. He sounds to be a man it would be worth moving heaven and earth to see.

I am almost positive that he repeats the nuchal as a matter of course before carrying out any sort of invasive testing.

I've been thinking since we were texting this morning of questions I would want answered. You've probably got all these, but...

1. What skewed your final result away from the blood and age results? Was it purely the measurement?

2. What are the risks of mc if an amnio or CVS is performed by him generally?

3. Does he think the mc risk is the same in your case? I mention this because although we decided to wait for an amnio rather than having a CVS (partly but not wholly because it was a lower mc risk) the consultant who eventually did the amnio said I had a higher than normal mc risk anyway due to the position of the placenta and the amount of fluid. Basically there was no way he could do the test without the needle going through the placenta, which increases the risk. if your placenta is in a similar position it may mean that there would be very little difference in risk between the 2 procedures, and of course the great advantage of the CVS is that it can be done as soon as you are ready. (If that's what you decide you want)

3. Can he look at your baby's heart? There are other health difficulties associated with DS, I'm no expert but I know that heart and lung difficulties are among them.

4. If your baby does have DS (pray god that's not the case) can he tell from the scans how likely it is to have any of the associated health difficulties? For me that would have been a key factor in the decision whether to continue with the pg.

5. what other 'soft markers' does he look for?

6. Does he look at presence/absence of the nasal bone? If not why not?

If you have your photos from your babybond scan I'd take them along with you.

By the way, in case you find yourself worrying that you might end up in our situation,please don't worry, you won't. We were actually low risk of Downs as all the hormone levels were so low, but we were at enormously increased risk of almost everything else.

I'll be thinking of you lovely, call or text any time you need to. Big (un-mumsnet-ty)hugs. xx

HerNameWas Thanks so so so much for this sweetheart. Really appreciate it. There's some great questions on here and I will get answers for all of them. Will call you later when I've got thru to FMC. xxx

I just wanted to let you all know that I have been able to book an appointment with FMC on Tuesday at 3.30pm for another nuchal scan and bloods. They have also booked me in for a CVS on Wed with Prof Nicholiades. I am hoping that the we won't have to go through with the CVS, but if we do, then at least we know that the best person in the world is doing it.

Thanks once again for all of your advice and kind wishes. I just need to hang on to that last thread of sanity until Tuesday. There is light at the end of the tunnel.xxx

Been lurking - great news that you've got those appointments. Hope all goes well for you.

Further to some postings recommending the Fetal Medicine Centre in London, I
I wanted to point out that there is an excellent 40 min video of Professor Kypros Nicolaides from the centre on their web site detailing the various chromosome abnormality tests and their associated rates of detection/accuracy. I highly recommend watching it.

Put it on 'full screen' on your computer (to see detailed graphs and charts) or plug laptop into your television and watch with you DH/DP:
www.fetalmedicine.com/fmc/ultrasound/11-13-weeks-scan/

It's not particularly pleasant subject matter, but enjoy!

Best of luck Santasgirl

At the beginning of this thread I thought: wouldn't it be great if she could get someone like that laaarvly Greek Doctor I saw on that documentary a few years ago.

Now his name has been mentioned I realise it was him - I used to work with someone with the same surname and it jogged my memory.

Sounds as if you are in the best possible hands.

Will be thinking of you.

Oh that's good. At least you know if you want to go ahead with a cvs then you are in the best hands possible.

Santasgirl - so pleased you got your appointments all sorted. Sounds odd but you'll feel calmer just by knowing you're doing someting! The man himself is a very nice chap and the whole procedure is such a non-event. I truely didn't even have as much as a twinge afterwards - just thought I'd let you know in case you have the CVS! x

Hi Guys. Thanks for all the kind wishes and lurking! I am indeed feeling a lot calmer. It's just knowing that I've done something positive and that we'll get some answers soon. I really hope that this is a horrible nightmare episode that will come to an end soon.

All of the information that I've been given by you lovely ladies (and the stuff I've found on the internet) has been so helpful.It has really empowered me. I can pass this on to other women who might be in my situation. MN is a powerful tool for women. Thank god it exists.

A friend was saying that I've probably ended up knowing more than my GP now!

Anyway, if you're interested, I'll post on Tues or Wed. Just continue to keep everything crossed for me. We're not out of the woods yet, but we can see a glimmer of light at the edge of the trees. xxxxxx

glad you feel better.

When I got my NT results I felt dreadful, couldn't think straight, felt disempowered, confused, in the hands of the gods. I had constant visions of us having a DS child I felt I'd never be able to cope with.

Two days later I decided on the amnio and after that I relaxed a bit because I knew when we'd have an end to the speculation and I wouldn't spend the rest of the pregnancy wondering.

I think you're doing the right thing you know, and hopefully the result will be favourable and you'll be back here with some good news to share.

Have everything crossed for you!

A bit late to this but wanted to share my story.

I was 36 when I had an amnio shortly before Christmas. My bloods came back with a risk of 1 in 13 after adjustments. I had the amnio, although I have no idea what I would do if there was a decision needed to be made about termination.....

Anyway, the wait for the initial FISH results was the most most difficult 2 days of my life. Spent sobbing on the sofa, barely daring to move in case of mc.

Fortunately the results were good and I now have a healthy, happy, bouncy 3yr old.

With hindsight I now would be more proactive about when the testing is done as the bloods were taken according to the dating scan which brought me forward by 9 days. I wonder how much the risk would have been if the bloods had been taken according to MY LMP, as the timing of bloods does play a factor in what the results will be, iyswim.

Best of luck with your tests. It's not an easy time for you

Hi SantaKLAWS. It's funny you should mention NT scans and LMP's becasue I'm really wondering whether they did mine too early. BY LMP I would have been 10+3, but an early scan at 6+3 week put me at 7+3, so therefore NT scan one week ahead of LMP dates. I don't know if I'm clutching at straws. But it's all I've got at the moment.

At least I only have one more day to go before heading off to Fetal Med Cen to get detailed scan and bloods taken. Then the CVS on Wed. Am crapping my pants, but it's something that needs to be done.

Most worring thing is how I'm going to cope with DD2's 3rd birthday party on Saturday. Have nine 3 yeas olds scheduled to come over for fun and frolicks. Hmmmm, think we'll play by ear!

Hi Santasgirl - only just seen this thread. Hope you are feeling ok. Just to let you know you're not the only one - was told on Christmas Eve my baby has NT 3.5mm giving us a 'score' of 1:27, after bloods 1:140. Am 28.

Have decided not to go for CVS but have detailed heart scan this week. I know how scared you must be feeling. Am trying to reassure myself that the chances are still high that baby doesn't have DS, and even if she/he does, hoping that there's nothing wrong with the heart. Hope things go well at FMC - we were considering going there as well but got referred to Guys anyway, Good lucj,

Hi Santasgirl, have also just seen this thread and can totally understand all you are going through.

In October at my nuchal, I was given odds of 1 in 28 for downs. DH and I had not really given the nuchal much thought ( I have a history of miscarriage and so was just pleased to get to 12 weeks) and when we got the odds, the shock was numbing. The hospital we went to were great however. They didn't tell us to do anything, just gave us options and after a few hours, I decided that I had to know one way or the other and opted for CVS. Another scan would just have given more odds and I had to know.

It does carry a risk of mc but it depends on the skill of your doctor and my history had no impact on the level of risk.

The procedure itself was quick and painless. It felt strange - a pulling sensation that was all. And we had results within 24 hours. All was well. So we went from shock to just relief within 5 days. I was on bed rest for about 36 hours afterwards as it felt like I'd been kicked in the stomach bit that was all. The worst was definately the wait for results.

DH and I never had the conversation about what we would do had the baby been downs. We figured there was no need to torture ourselves as it may be unnecessary and I still do not know what we would have done had it been a different result.

I wish you all the best with your tests and by Saturday, hopefully all this will be behind you.

Take care of yourself.

Good luck for tomorrow, HeyThereSantasGirl!

Any news Santas/Georgie girl?

Have been thinking of you.

Wow. There's so many stories of this happening. I had no idea how common it was. It's a bit like miscarriage isn't it. You just don't know how many women have been thru it til you've benn there yourself.

I just hope with every fibre in my body that I get the same result as everyone on here.

LadyHelen Thanks for the info. My mum is one red alert. She's up tomorrow to look after the DD's and knows that I might be on bed rest as of Wed night. Funnily enough, not scared of the procedure. Don't mind needles. It's the damn results that petrify me!

Will try and get on here tomorrow or Wed after we've had scan and CVS.

Thanks once again for all the kind thoughts. And best of luck to Ephrinelady for your scan this week.

Just to add my story - I was 42 and pg with no 4, due to the risk if mc I didn't go to the doctors until I was about 10 weeks and by the time I got my first scan at the hospital it turned out that the baby was too long for an accurate nuchal fold result ( I had no idea there was a length limit) so I had full blood tests which came back with a 1 in 9 risk of DS. Consultant couldn't have been nicer and passed me to a colleague who explained all about risks of amnino/CVS which due to the fact that I was about 15 weeks by then was actually v low for mc (can't remember exactly the figure). I had an amnio which was suprisingly painless and only had to wait a few days for the results which thankfully were clear. DS4 is now a v healthy 10 mo. I do hope all goes well for you this week.

Message withdrawn

I just got my amnio result today and found our baby does not have DS or Edwards or Patau syndrome. I'm so relieved we had the test.

GeorgieGirl (SantaKLAWs without Crimbo outfit on) as you have a birthday party to deal with on Sat I'd be asking all other parents to do what they can to help - bring food, stay to supervise, organise the games, etc, in light of the fact that you will have had CVS on Wed. I'm sure that once explained most mums will be only too happy to help so that you can have a stress free day for dd2.

Mogwai Woooooooohoooooooo. Great news. Thanks for letting me know. Am sooooooo pleased for you. Now, if you'd be so kind as to pass some of that good luck in my direction, that would be great!

Klaw Seems as if we've all lost of festive fancy dress! I've got my ma and pa drafted in to help. Plus DH will be there and all the mums will stay as some children only 2. Will play by ear and if I don't feel up to it will postpone for next weekend.

n5rje Thanks for sharing your story. I want my outcome to be the same as yours please.

Georgie Girl I have everything crossed. What a horrible four weeks we've had. But when you get the all clear it feels like winning the lottery

What hell they put us through! I had 1/17 chance given to me and had 3weeks of hell - just over - what does the strees a sheer terror do for mother & baby. Had decided to stay with pregnancy whatever the results and definatley would NOT have the NF test again which was offered with no councelling and sold as 'a brilliant thing'. Sooooooo glad things are good for you now though I think you could do with a hand for the party xxx

Hello all, just registered on this site and wanted to say how suportive you all are to each other I think that is great. I have a CVS tomorrow really nervous Nuchal fold is very large at 7.6mm, bloods fairly normal. So worried has anyone heard of Nuchal fold this large. Im 29 this month. I wish all of you going through this nightmare all the best.
x

yes zoebo, ours is massive at 8.7mm, bloods normal. been to see prof niklaides, got a 90% chance of something wrong. had cvs, all okay, still ...

Can I tell my story too?

I had the nuchal fold and bloods done three weeks ago, and even though the measurement wasn't too bad - 2.6mm - they gave me a 1:16 risk of downs. Must have been my age However, the blood results were good, which brought it down to 1:99.

However, once we'd seen him on the screen, there was no way we could have had a termination, so we decided not to do the CVS or amnio, as we would not act on it. And as the risk of miscarriage was the same as the downs risk, it wasn't worth it. Particularly as I've had four miscarriages in the past three years. And as I'm 43, so this is likely to be my only child.

And then when we thought about it some more, it's all presented like *woot woot woot* * risk risk risk* as if it's a 1:99 chance of the baby dying, or having two heads, or of killing you as its born, but it's only a 1:99 risk of not being entirely perfect. It's not the end of the world, and he'd be loved whatever happened. And they only screen for those few chromosone problems, not any of the other things that can go wrong, before birth or after. It's all part of the deal. At least, that's my justification! Naturally I'm terrified of the 20-week scan, in case they find out there is something wrong...

I know what you mean, herbaceous! I've had nothing but "Of course at your age you do have a high risk of DS and so you need to have the test." Every single person I have seen has gone on and on about it. I did know I had an increased risk because of my age but even if I didn't, I don't think I need to hear it again and again and again and again. My midwife went on so much that I ended up saying "Yes, but it's not actually guaranteed is it." and she finally stopped going on about it. I did have my NT yesterday (1.1) and am waiting for the blood results.

I think you are so right Cazzywazzy. We are put through sheet torture when we get these test results. We have a 97% chance that everytihng is ok, but our first reaction was, sh&t, 1 in 38.

Zoebo Best of luck with the CVS tomorrow. I have mine too. Where's yours? Not scared of the procedure. Just scared of the results.

Herbaceous You are one strong lady. And what you say makes a lot of sense. Am hoping that everything is ok with your 20 week scan.

Deleting Wow, that's a large nuchal. Makes me think they are panicing over mine, which is 2.4mm. Really glad that your cvs came back clear. You must have felt like you'd won the lottery when you got yuor cvs results back.

Nekabu My fingers are crossed for your results. Nuchal fold measurement looks good though. That's a step in the right direction. Let me know how it pans out.

I've just come back from the hospital where I had my booking in meeting with the midwife. Made the decision to go as I wanted to see it as a positive portent of what will be a good pregnancy. Roll on 3.30pm and the scan. xx

Hey there Georgie/Santa

I'm not really brave - I spent a good few sleepless nights after I got the results, and was tempted to have an amnio, just to know one way or the other. But once me and DP had agreed that we loved Cromwell (absurd name for bean) anyway, it seems easier. And my mind seems to have a limit for worry - I'll get into a total lather about something, then a switch flips in my brain when I can't take it any more...

Herbaceous I seem to be doing the exact same thing today! It's like a blissful total melt down! Am adopting the fingers in ears, lalala, I can't hear you approach! So far so good. Although I can feel anxiety levels rising the near it gets to 3.30pm. Deep breath in, deep breath out, in, out......

Dear All. Just got back from the Fetal Medicine Centre and very pleased to say that after a detailed scan, there are no soft markers for Downs and our risk has been adjusted to 1 in 786. (I can now allow myself a celebratory smiley face) .

We're taking this new figure with open arms and have decided not to tempt fate and go for the CVS. We will instead have a detailed echo cardiogram at the 20 week scan to rule out any cardiac abnormality.

It's been a truely horrendous week. But I am sooooo glad that we've been able to come out the other side.

At the risk of sounding like a snivelling Gywenneth accepting the Oscar. HUGE thanks for all your support, love and information. You have all made this nightmare of a situation more bearable. If you ever need anything from me, come and find me on Emmsys thread on conception.

I hereby pass on the baton of good luck to the next woman that needs it.

xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

That's great news I'm really pleased for you. Now you can relax a bit! Will be nicking the baton for heart scan tomorrow, have a restful night.

Oh that is fabulous, I'm so glad for you. Phew!

Was the nt measurement the same as at the babybond place??

PHEW! That is great news!

Ephrine Take the baton love. it's all yours. And very best of luck for tomorrow. Hope you have a restful night. Can recommend Horlicks and a BORING book. Knocked me out last night!

Everlong Nuchal fold was 2.8mm this time. 2.4mm at Babybond. But baby had grown a lot since last scan. So this was adjusted. New measurement just above 95 centile.

That's very reassuring, I'm so pleased for you.

Fantastic news Georgiegirl.

SO happy for you.

Good luck to everyone else too
xxx

So pleased for you Georgiegirl. At least you can relax and enjoy your little one's birthday party.

Good luck to Ephrine too for today.

I am 37 yrs old and am pregnant with dc2.
DH and I are just back from the hospital after our second high risk set of results for DS.

We had an amnio on our first pg and luckily had good results and DD1 was born perfect.

Now pregnant again and have to go through the stress & worry all over again. We are booked in for CVS tomorrow morning

Anyway else had two sets of bad results like us on two different pregnancies?

Hi sorry for mini-hijack Georgiegirl - the baton of luck worked again - no sign of heart defect at this stage - of course baby could still have DS but my main worry was heart anyway. No need to worry now (until next scan! ) Hope things go wellfor anyone else having similar probs inc. coll36.

coll36 I had a high risk of Edwards with first pregnancy (at 32) and high risk of Downs in second pregnancy (I'm now 36).

First baby born fine after we rejected offer of amnio. Had amnio last week for PG2 and got normal results back on Monday.

Mogwai - glad to hear that everything is good for you

we are keeping everything crossed
cvs in the morning

Ephrinedaily You hi-jack away my love!

Was wondering how it went today. That's such good news. It's one more thing off your mind. Am thrilled for you. Thanks for sharing.

coll36 Really sorry to hear that you're having to go through this trauma again. Take the 'baton of good luck' with you. It's worked for me and and Ephrine. Fingers and toes crossed for you that all goes well tomorrow, and that the results come back clear.

Zoebo Think you were having CVS/amnio today? Hope it all went well and that you're putting your feet up and resting. Sending you positive thoughts for negative test results.

Not trying to hi-jack the thread but everyone on here seems really knowledgable and I wanted to pick your brains!

I had my NT on Monday (1.1) and blood taken. They said if it was a high risk I'd get a call within 3 working days and if it was a low risk then a letter between 7-10 working days. Today's Thursday so I make that 3 working days if I don't include the day the blood was taken. I have a nasty feeling they're going to give me a high risk no matter what the test results because of my age but now two days have gone past I am starting to get a little hopeful.

What do you reckon? If I haven't heard anything by the end of today, do you think I'm in the clear or will they have just forgotten to phone me or be phoning me later than the 3 working days?

Anyone?

Nekabu Why don't you call them. Least you know that you're doing something proactive. Did you have the scan on the NHS? It might be that they are just bogged down and haven't got round to calling (IF that is the case). Chase them. And don't take no for an answer! Oh and let us know how it goes. xxxx

Also, 1.1mm is a very low measurement, which may mean you're low risk, which is why they haven't called...

Thanks! Phoned and said it's the afternoon of the third day and I can't take it any more!!! They're getting the midwife to call me back this afternoon.

That's fantastic news - I'm so pleased for you. The FMC are so good -I'm thrilled you went and got the second scan x

When they adjusted my age risk result to reflect my test results it's 1/474! And there was I being all pessimistic thinking they'd be bound to give me a high risk result anyway (as my age had been made such a fuss of) and they haven't!

Nekabu Thats fantastic news. Bet you're floating around on a cloud this afternoon. Have a cup of tea and relax this evening. And as everyone else has told me, enjoy your pregnancy now!!!

When are you due?

I'm due 10 July.

OMG! Snap!

I'm due 14th June!

We need a "June Nuchal Babies" thread

Nekabu Wow!!! How spooky is that. Are you on an ante natal thread? I'm sticking with my mates in Emmsy's thread on the conception thread. Do you have any children? This will be No3 for me. And no more after this. I'm too bloody old and knackered! DD1 is 7 and DD2 is 3. I'm hoping for DD3. DH would secretly like a DS. But quite frankly, we'd be bloody happy with a healthy baby!

If it is your first and you need any advice/help/shoulder to cry on come and find me. Sorry if teaching you to suck eggs. But I know how clueless I was with DD1.

Mogwai Your baby will be a gemini. I'm born 16th June. Can vouch for our brilliant communcation skills, loyalty and wicked sense of humour. Never a dull moment with a Gemini!

I know! I haven't been in the conception section. What's the thread called? This is my first so I need all the advice I can get!

Nekabu you should probably go to 'topic list' and find the June antenatal group and join that. Most of us are in the groups relative to our expected birth month. There is a group for every month.

Nekabu Check out the Ante Natal threads and look for 'due in july'. There will be lots of women on there that will be having their babies in July. Most of the chat will be about pg and pg related issues (great for you as its your first time). I'm on the Conception thread - 'the one where Emmsy's friends say, 'if your names not down you're not coming in' . We're more of a select group (!) who are either TTC, pg or just had a baby. Not so much pg related stuff, more moral support for every day life! Join both! See you over there. xx