My nuchal scan shows a hIgh risk for Down syndrome - don't know what to do?

[LiliAnjelika]

I'm 37, 12 weeks pregnant, and have just been for a nucHal fold scan. THe test turned up a 1:42 risk of Down Syndrome based on age, and nuchal fold. I wasn't expecting this result at all, as my last scan - aged 35 - was really positive and I was basically just going for reassurance. I've wanted this baby for so long and cannot bear the risk, however tiny, of miscarriage posed by diagnostic tests like CVS and amnios. I don't think I could face a termination either, if the results weren';t good. ON the other hand, I don't think I could cope with a disabled child. Basically, I think I'm probably facing 6 months of hellish anxiety and sleepless night and I wish I hadn't done the bloody test in the first place.

JUst wondering if anyone else has had this experience and how they coped?

My heart goes out to you at this difficult time. My third child has Downs Syndrome and all I can say is that he is the light of my life. Everyone who meets him falls in love with him and he brings out the best in everyone. He is never a burden only a joy.He is a bright child who is always happy - he simply meets his milestones slightly later than his friends. There is so much more understanding nowadays about the very specific learning difficulties faced by children with DS and there is a lot of support available. The scan results are inaccurate and can give false alarm and false security.In any event I am very pleased that I didn't go for further definitive tests as it would not have altered anything.I wish you luck and happiness whatever you decide.

Hi,

Just to say that we've just had an e-mail from someone who was having difficulty posting but wanted to add this...

If you would like to advise the worried mum to contact an organisation called ARC (Antenatal results and choices) they will be more than happy to give her advice : the helpline phone number is 020 7631 0285 they also have a website www.arg-uk.org

Hope that helps.

LiliAnjelika,
I'm sure this must be a tough time for you and it's great that so many wonderful parents with direct experience of Down's syndrome have posted to tell you what it's really like. Some of the posts are truly inspirational!

Just to add my little contribution. When my ds1 started primary school there was a little girl in his class with Down's syndrome - I'll call her Mary. I'm ashamed to say that my first reaction was totally negative. But my ds1 totally fell in love with Mary (said he wanted to marry her) and he wasn't alone. I think the children have gained so much just from sharing their schooldays with Mary. A year or so ago she was moved from ds1's class to the other class in his year (nothing to do with Mary but ds1's class were getting a newly qualified, inexperienced teacher). Well, I thought there was going to be a riot - ds1 came home in tears saying that the other class were gloating because they were going to have Mary in their class and "yah, boo" to ds1's class!!

Sorry, this has gone on a bit but I thought it might be helpful to have another perspective! Anyway, good luck with the pregnancy.

Hi

Just wanted to add my good wishes - do have some idea on what is going through your head - first son's nuchal test came back with a 1 in about 400 chance - great thought the 34 year old! For some strange reason we decided to try again quite quickly (hormones have a LOT to answer for!) and was pregnant again at 35 - and this time we came back with a nuchal test of 1 in 10 risk! Not the letter you want to get the day before your idiot husband leaves the country for 5 months! We ended up having the amnio mainly for my peace of mind - we knew that we would be keeping the baby no matter what the result, but it would allow us to prepare, do research and me not spend 5 months going up the wall. Ellie is now 19 months old and a total minx - and thankfully the amnio had come back clear. You need to do whatever is best for you and at the end of the day, only you know what that is. Will have fingers crossed - but I can remember that totally sick feeling in the pit of my stomach while I was waiting for the results.

Hi. I haven't read the whole thread so if i'm repeating, apologies.

During my first pregnancy, I extensively researched and discussed with experts in this field, the whole Nuchal scan process and results. I was told the Nuchal Scan should only be done in wk 13 or its not very accurate. You know you are getting a good scan when they look at the feet,the nose and the fold on the neck. It should take quite a while and lots of scan pics taken for analysis. Together with the blood tests, if the nuchal is done correctly, it's extremely accurate - in the 90% + range. BUT the conditions have to be as perfect as possible ie correct stage of pregnancy, correct scanning equipment, experienced person to analyse results.

I would ask why your scan was done during week 12 and have the hospital repeat it now as this is the correct time. Queen Charlotte (maternity unit at Hammersmith hospital) have excellent equipment and staff - if you're in London, you could ask you GP to refer you.

On a positive note, a friend of mine's sister recently had a Downs baby - completely unexpected. After the initial shock, my friend says they don't even think about it anymore - it's not part of the 'equation' and they wouldn't be without her in the family. She's not a baby with Downs, she's just her niece.

I hope this info can help and good luck whatever the outcome.

TesterEirene's information about week 13 - really interesting. I was told the best time was anytime between 11-13 weeks. I am having a second scan next week as it happens, DR KYpros Nicolaides's clinic in Harley St. I wanted to factor in information on nasal bone etc but it's also good to hear that the timing will be perfect too.

Every post has new information or something emotionally helpful - it's amaazing. Again, thanks from all the mums of children with DS and other chromosomal disabilities.

I totally identif!ied with deckeng's story, especially when she said that her husband was going away for 5 months. One of my biggest concerns about looking after a child with DS or other 'abnormality' is the fact that my partner works away in the week, only coming home on weekends. YOu really need a partner's support at difficult times and men are so often emotionally or physically unavailable - not all of course. On the other hand, my understanding from all the posters is that looking after a child with DS is not that much more difficult than looking after any lively red-blooded child, and I've managed ok with dd so far!

In my experience DD1 with DS was, is a milion times eaier to look after than DD2! Seriously! And friends that have asked to look after Lottie, yes asked to have her overnight etc, have all said how easy and delightful she is, has always been that way. I'd leave Lottie with anyone and know she'd be call. Eve on the other hand is wonderful but into everything and you can't take your eye off her.

My friend's have all said 'I'd have Lottie for you anytime' and 'ohh I could have 100 of her, she's so good' and so on.

Children with DS are just that children! They don't do anything different to any other child. There is nothing so diiferent about them that they becoe hard to deal with etc, they just take a bit longer to reach milestones. Don't think anyone with a child with DS would disagree with that.

I've just read through this thread with great interest - as a pregnant 45-year-old my odds of having a downs baby are 1:25 or 1:30, depending where you look.

My dp and I did a lot of research, and I decided to have the best screening test I could find: this was the Integrated Test at the Wolfson Institute , in London. Reputedly the most complete test in the UK, it consists of a nuchal scan and blood test for 2 markers at 11-13 weeks, and then a second blood test at 16 weeks for 3 other markers. They combine the results of the scan, 5 blood markers, and your age in their fancy computer programme, and give you a result, either screen positive if 1:150 or below, or screen negative, if above 1:150. The results are ready the day after the second blood test.

Apparently the older you are, the more accurate the result; so for me, results should be 99% accurate.

I was very lucky - I had results last week, and my odds were 1:300, so it was a relief not to have to worry about invasive tests!

But at the end of the day, the important thing to remember is that the greater odds are that your baby will be fine! so fingers crossed

Hi I haven't read all the posts but got the gist. When you see Dr Kypros Nicolaides's it may be worth asking if you can be followed up on the NHS following your private appointment. All patients are entitled to a second opinion on the NHS as a matter of course so it is always trying, you should also be able to choose where that second opinion is. I had both my nuchal scan at King's (Dr. Nicolaides clinic) and was very impressed if somewhat overwhelmed by the department. If you go done the route of CVS/amnio ask Dr. Niclaides to give your opinion of the risks of each, there is a theory that the research into amnio risks is squewed (can't spell sorry) in favour of amnio. When you have your 20 week scan there is the opportunity to have this done at King's, I did this with DD2 as I was 38 and thought the facilities and specialists were more informed than at our local hospital - my 20 week scan with DD1 consisted of a sonographer insisting that my baby was too big and that my dates were all wrong despite having had 100% aggreement of dates at nuchal scan.
Don't be put off by bureaucracy - you and yours are entitled to the best treatment on offer. I have worked for the NHS for over 20 years and know that information is not always forthcoming!
Best of luck for saturday and sorry if I have rambled on!

Hi Lili

We had a similar pregnancy with ds2. Although the nucal scan came back as low risk, they found an 'intercardiac echogenic focus' in our son's heart - a build up of calcium - which is an indicator of Down's Syndrome. This was at about 20 weeks, so abortion would have been very hard. Because of this, we decided against an amnio, and went to see Dr Kypros Nicolaides (who's already been talked about in this thread). He and his team were marvellous, and could give us much more information than the NHS staff as this was part of his field of research.

By the time my due date came, I knew that my baby would be wonderful, downs or not. As it turns out, he's not.

Good luck to you, whatever you decide to do. I would recommend seeing Dr K if you possibly can. xxx

Must read these threads properly! Have just caught on that you're already booked in to go to Dr K's clinic. D'oh! That's great - good luck to you. Hope all goes well.

I haven't read through the whole thread but just to say I had similar experience with my 3rd (now very healthy 3 year old boy). My nuchal scan with blood test (done at the Fetal Medicine Centre by Professor Nicolaides) came back as 1:20. I decided to have a CVS and Professor Nicolaides did it. I don't think I knew what I would do if the result came back as there being a problem but he was great and very reassuring about the risks of doing a CVS. I think the risk depends so much on who's actually doing the CVS - if that's the route you decide to go down, I would definitely go somewhere where they are routinely performed. I wish you luck whatever you decide and will be thinking of you. xxx

Hi LiliAnjelika and Foxybrown,
I had my first DD almost a year ago and had just turned 40 when she was born. Because I was older and had concerns my DH and I decided to have the nuchal fold test done. DH was very reassured by our incredibly low risk. However I always had the thought that somebody had to be that 1 in "whatever" that actually had the Downs syndrome baby. I didn't want to go through any of the other tests. I knew I couldn't have aborted but like you was very uncertain that I would be able to cope with a baby with difficulties. However for me it didn't matter if I had a 1 in 10 or 1 in 1000 because I didn't want any further test done I couldn't be certain that I wouldn't be that 1 until my baby arrived. A few years ago I heard something that has stuck in my mind - it isn't always easy to achieve but it goes like this. "Don't waste your energy worrying over something that may never happen - save it for when you need it!" With all the positive experiences of the blessings a Downs syndrome baby/child brings I reckon I won't worry at all if we try again!

My risk was high due to my age etc. I went to the feotal medical centre on Harley St and had their nuchal fold and blood tests (not available on NHS) My risk came out much lower 1:1000. I am 42.

Hi LiliAnjelika
ive just read the whole thread and know EXACTLY what worry you must be going through. im 15+4 weeks pregnant and went for my nuchal test at the fetal medical centre (where prof nicolaides works) on my 30th bday when i turned 12 weeks pregnant. i was absolutely gutted when the nuchal came back as being 4.3. the worst 30th bday present ever!!!! basically 95% of the populations nuchal is below 2.5 and 99% below 3.5%. we were in an awful state and the reading not only meant that we had a 1/62 chance of our baby having downs but also that we had a 33% chance of having a baby with severe congential heart probs (the heart risk is only increased when the nuchal is over 3. i think - so i dont think you need to wory about that). We decided to have a cvs and again mr nicolaides did it. the risk of miscarriage is very much reduced by who does the cvs and although it is published as being 1/300 he told me its actually 1/500. the minute he had done the cvs he said my risk of miscarriage had been reduced to 1/1000 (as i didnt miscarry there and then). You get the first lot of results two days later - these are the important ones testing for downs etc and then you get the results for rarer genetic disorders 2 weeks later. we also had to have a scan of the heart which was my major worry (more than downs) and fortunately at this stage the heart is fine. it was a v agonising time waiting for the results for two weeks but they came back last week and are also fine. our nuchal is still high (much higher than yours) so they need to keep scanning me as i think the baby could devlop heart probs but fingers crossed we are now in the clear. it is so lovely to be able to begin to enjoy the pregnancy as up until we got the results last week i couldnt bear to read pregnancy books, look at the scan photos or anything.
my thoughts are with you that things will be ok - i really hope your baby is fine and that you can begin to start enjoying your pregnancy
let us know how you get on. my fingers are crossed for you
x

Having read all the (inspirational) threads, I thought maybe I could put another perspective on it: my friend lives in Italy and during her pregnancy last year she had an amnio, simply because that's accepted practice in Italy - apparently nearly everyone has them, and they pooh pooh the m/c risks. My friend said her antenatal care in Italy was second to none, and she would always in future have amnio tests. So culturally Italy seems to have a completely different approach to it all - I wonder if the pregnant mums worry less as a result?!

Good luck with the next steps Lili.

I also had a cvs with my second pregnancy - I was 37 and the risks came in as much higher than my age alone.

I had mine done by the head of obstetrics at UCH, who was great. He had been doing CVS for 8 years and told me he had never had a miscarriage. I have heard and read that the person doing it is a huge impact on the stats.

I had a cvs as if I went on to a termination it could be done surgically at that stage and not through induction - I had had a c-section relatively recently prior to that and if I went down the amnio route and had a termination via induction at 18 weeks the dr had some concerns about the scar. I'm sorry to be direct about it, but that was the reason for me - may or may not be relevant to you. Also, I really could not have borne the wait and the worry for another 4 weeks or so.

To be honest, I really don't know what I would have done if the result had gone the other way - but I'm a great believer in arming yourself with all of the relevant information so that I could make a decision.

I do know what you mean about switching off from the baby. I spent 3 or 4 days in a way distancing myself from the baby and I felt dreadful about that.

The baby involved is now an extremely articulate 3 year old with a full head of wild curly hair and some very strong opinions. Very best wishes to you - I didn't know about Mumsnet at the time and really wish I had.

Good morning everyone. Thanks again for all your posts. Picksie - I'm sending you positive thoughts. Sounds like you've been through hell.
Your observations on CVS also really reassuring.

It's also really great to hear from the all the 40 plus mums, because I would really like a third child, but as I'm going through sucj a scare with this one, I'm still not sure I could cope with another pregnancy, knowing the potential risks. Still, like you all said, it's far from always the case.

BY the way, (this might be interesting for jellysmummy to read) I went for my 12 week NHS scan yesterday, and the radiographer was much more interested in a new machine they were testing out than in me, and just kept on talking about aspects of the machine to her colleague. She didn't even confirm the dates, which was the whole point of the scan. In fact she didn't say ANYTHING about the baby apart from "looks fine."! My partner told me off afterwards for not asking any questions but my expectations of the NHS are so low that I didn't bother. I also knew I was going to Prof Nicolaides's clinic the following week, so I knew I could keep any questions I had until then. Still, in retrospect, it makes me angry to think thag all those other women there were probably going to get the same silent treatment. I don't have much faith in them for my 20 wk scan so I may ask about King's as jellys mummy suggested, although I live in Cradiff, so I don't know if that would be a problem?

Speak to you all soon,

Lili - where abouts are you? They were playing around with a new machine at our local hospital when I went for my 12 week scan on Wednesday... Freaky coincidence?

Sorry - just read on and saw Cardiff. Maybe they're introducing them throughout the NHS - I'm in Surrey...

JUst missed your message Anchovy. Was your risk about the same as mine (1: 42?)

Glad everything turned out fine in the end.

Agree that UCH is a good place too. I had IUI there as it's got great success rates, though it was a bit of a pain to keep on travelling back and fore to London from Cradiff...

Take care

I've blanked it out a bit, but I think me age risk at 39 (sorry, got my age wrong in the earlier post - was 37 for 1st child and 39 for second) was something like 1 in 110 and my actual risk was about 1 in 90.

My consultant had someone at the same time who had been given a 1:2 risk. She came out fine!

Hi Lilianjelika
Read the whole nuchal fold thread this morning as my perfect 13 month-old baby boy lies asleep for very long nap. The nuchal fold thing is so scary and everythhing everyone has written really brought it all back to me.

I was 39 when 11 weeks prgnant and was sent for Nuchal Fold by North Middlesex hospital to Homerton - all women over 37 got sent for it. At the time the results came out I didn't have a clue - all I knew was what my sister results had been, and she had been 36 when she had hers. She had great odds at 1:1000+ and when I was told mine I got a bit of a shock 'cos it was 1:223. Just the difference in mine and hers was a shock. The docs have to remain neutral when giving you the stats I think - they cannot swing you towards another intervention. Stats are hard to take in when you are nervous and upset and the doc put the 1:226 another way - as a percentage which was 0.04% which sounded much less harsh somehow. Looking back now they were good ods for my age but it was my first pregnancy and I was worried about EVERYTHING and did think about having the CVS.

In the end, do you know what decided me on not having the CVS? At 13 weeks I missed the last step at home by our front door and fell flat on my stomach and broke both ankles! So there was me panicking about losing the baby in completely another way and then had both legs in plaster/bandages for most of the rest of my pregnancy. I missed the window for the CVS and Amnio anyway because I was bedridden....

Someone said in one of the posts "Don't waste your energy on things that may not happen" It is true - I had to cope with the ankles all the rest of my pregnancy and not being able to get around. I am still not walking 100% now but it certainly took the spotlight off the Nuchal fold stuff.

When you are in it, it seems such a big stage in the pregnancy, but once you are past it you barely remember all the worry. Honestly, after your second scan in Harley st, which I am sure will be fine, I would just forget about this stage and allow yourself get on with enjoying the pregnancy.
Thinking of you next Wednesday hope you let us know how it goes.
All the best!

Bradshac - you're right, something like that must have put everything in perspective. God I hope you're legs get better. It must hav been so hard getting through your pregnancy like that.

I'm now going away for a couple of days to our little chalet in the countryside - partner is practically beeping away in the car, but will keep posting when I come back,....

I can strongly advise you having CVS if you feel that you could not cope with a disabled child - and also if you think that having a disabled child would affect the care you could give to your other child. I had it on the day I had the 12 week scan because I'd already decided it was something I really had to do. I knew my husband and I would definitely prefer to terminate (no matter how horrible) than have a disabled child. It is a very personal choice and obviously not everyone feels the same way about this. However, I would like to reassure you about CVS. Before I had it done I asked the hospital how many CVS procedures they do a year and how many miscarriages have followed. They told me they do over 300 a year and that in the past 2 years there had been no miscarriages. It is not a complicated procedure so long as it is done by a consultant who has a lot of experience. If you are reassured by your hospital about this, then I would advise you to go ahead. Alternatively, you could have it done privately. YOu need to do it sooner rather than later however, as clearly a termination (if it's what you decide to do) is better the earlier on in the pregnancy you are. Also, even if you decide not to terminate, it will give you several months to prepare for your new baby's special needs. I wish you lots of luck.