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12 week nuchal scan and blood tests shown 'high risk' of Down's

(47 Posts)
EmmalinaC Mon 27-Oct-08 10:08:55

I'm new to mumsnet but I'd really appreciate hearing about anyone else's experiences of this...

I'm 36 and had 12 week scan on Friday. The combined results of blood tests and nuchal scan showed a risk of 1:169. This sounds like pretty good odds to me but the sonographer told me this was considered to be high risk.

She wasn't able to provide much explanation but encouraged us to book a CVS test as soon as possible. She seemed pretty keen to get rid of us.

We've spent the weekend worrying and have just called the hospital again who have made an appointment with a consultant for tomorrow morning.

We've also booked a private scan at the fetal medicine centre to get a bit more information before we decide about invasive tests.

Just wondered if anyone else was given a similar risk, and what they did about it?

Thanks

cupsoftea Mon 27-Oct-08 10:12:05

The cvs test can be done until 12 weeks I think - after that an amnio is possible from 14 weeks. I've had high risk with the nuchal scan and the blood tests and always reminded myself that it's just a probability. The detailed scan can check on development aspects like nasal bone and femur length - but the only test that will give the all clear is the amnio.

mankymummy Mon 27-Oct-08 10:16:07

i was given a risk of 1 in 30, had an amnio and all was fine. DS is now 3.

i think you need to think about a) whether you want to find out for sure whether your child has DS and if you do, b) what you'll do if it has.

with a result like that, dont forget there are 168 chances its negative for DS and 1 that its positive.

jlh69 Mon 27-Oct-08 10:58:27

Before you decide anything wait until you've been to FMC.
A friend got 1 in 750 at local hospital and 1 in 5000 ish at FMC.
You may get a much 'better' result and that may help you make up your mind whether to get an amnio/CVS. At FMC I think they recommend having an invasive test for over 1 in 200. You can have a CVS up until 13 weeks I think. Good luck

Reallytired Mon 27-Oct-08 11:02:37

It has to be remembered that amnio or CVS carry a risk of miscarriage of about 1 in 100. Are you certain that you would terminate the pregnancy for Downs?

EmmalinaC Mon 27-Oct-08 11:26:05

No, not at all. I don't know how we'd feel but we'd like to be prepared. The thought of spending another 6 months as anxious as we are now is terrifying.

It seems crazy that a procedure that has a 1 in 100 risk of miscarriage is considered 'low risk' and yet a chance of 1 in 169 of having a baby with Down's is high risk! It's as if the medical profession feels that having a baby with Down's would be a worse outcome than losing a healthy one...

Really appreciate your comments though, everyone.

Mandy73 Mon 27-Oct-08 11:27:37

Hi EmmalinaC so sorry to hear about your experience. She didn't treat you very well at all.

We've just come through 1,5 months of hell after being given a 1 in 3 risk of Downs and 1 in 36 of Edwards following the nuchal screening, mainly due to the blood test (v low papp-a). I'm 35. Because the risks were so high we got lots of info and were fast tracked to invasive testing as soon as they could do it (which turned out to be not very soon - couldn't have CVS due to posterior placenta, had successful amnio three weeks later).

And in the end there were no major chromosome abnormalities detected. The wait was the worst time of our lives though. However we often said how 'lucky' we were despite it all; With such overwhelming odds we were in no doubt about weather to have further testing and were treated very well.

Before the nuchal screening we discussed when to have additional invasive testing and agreed we would if the risks were below average. There are no such things as guarantees in life and disability can strike anyone at any time but we are very pro screening and grateful for the choice.

Best of luck to you, you are doing the right thing getting more information and additional appointments. xx

filz Mon 27-Oct-08 11:30:32

you have a good point with regards to the risk of miscarriage versus the risk of a child having down syndropme. Dont be railroaded into doing something you dont want to do

cupsoftea Mon 27-Oct-08 21:37:07

EmmalinaC - you are comparing risks that are different to each other so your comment about the medical profession & Downs syndrome is rubbish. Your risk of downs is 1 in 169 chances - it's personal to your baby ... but the 1 in 100 risk of miscarriage with amnio is that 1 in 100 pregs will end because of the procedure (not by choice based on the result)

cupsoftea Mon 27-Oct-08 21:42:04

Also an amnio is not considered a low risk procedure as there is a real chance the preg could be over

WhatFreshHellIsThis Mon 27-Oct-08 21:46:00

Hi Emmalina - sorry to hear you're going through this, we had similar results a while ago and I know how worrying it is.

The thing with the risk factors is that the terminology is very bad. They set a cut off at 1:250 and call anything worse than that 'high risk'. However, what that means is that by offering testing to everyone whose risk is worse than 1:250, they are confident of detecting a significant proportion of babies with chromosomal problems.

The only way to detect them all would be to do invasive testing on all pregnancies, which is obviously not a good idea, so they have to pick a point at which they deem it to be a good idea to offer more tests, in order to balance the costs/risks/resources involved in invasive testing with the likelihood of picking up the majority of problems.

Sorry, that probably doesn't make any sense!

However, it's worth remembering that out of 4000 people given a 1:4000 risk, one of them will have a baby with a chromosomal disorder, so there's no guarantees, even with excellent results.

Try not to panic, I know that's easy to say, but there are lots of people on here who have been through it and had healthy babies with no chromosomal problems. Just try to take it one step at a time, talk to the FMC and to the consultant and decide what to do next.

We had a CVS - it wasn't painful or complicated, and apparently the risk of miscarriage is much less if you have an experienced consultant doing it.

Good Luck! smile

eidsvold Mon 27-Oct-08 22:08:02

I have a 6 yo with down syndrome. I was told at around 20 weeks pregnant that if she was born without down syndrome it would be very very rare. We chose not have to an amnio - for a number of reasons - one being that having a child with down syndrome - to us - was not a terrible fearsome thing.

I don't have time just at the moment as I am about to get the dds ready to go to school and playgroup. But if you do a search for my user name and down syndrome I have written a lot about dd1 and what it is like to have a child with down syndrome.

Another resource is to contact the Down syndrome association of the UK - they will talk with you about down syndrome and I am sure they will have some literature they can send out to you.

When I get back in a few hours I will hunt down some links for you - if you do not have the time to search.

There are others on here who also have children with down syndrome - you can search for Thomcat and geekgrl as well.

FloriaTosca Mon 27-Oct-08 22:43:18

I have been in your situation several times (I have a chromosomal translocation that gives me a 1:3 chance of having a child with Downs) FWIW my experiences led me not to test my last pg... 1st 4 pgs m/cd naturally before 10wks, my 5th pg had a heart beat at 6 & 8 wks but when I went for a cvs at 12wks it had stopped, my 6th pg had a good nuchal at 12 wks and the 16wk amnio proved her to be a carrier not a sufferer of Downs, however the test triggered a clotting problem and I lost her at 17wks, consequently when I fell pg for the 7th time I could not face testing despite the high risk, the nuchal looked good and a child with Downs is still a child to love and cherish and raise to achieve its fullest potential which was to me, after all I had gone through, infinately preferrable to losing a healthy child because we needed to "check"!..as luck would have it my ds is fine and not even a carrier, but it is a difficult decision to make and only you know what the right thing to do is for you. I wish you all the luck and every joy whatever happens.

jimjamshaslefttheyurt Mon 27-Oct-08 22:53:12

Recent research showed that for the risk from cvs was higher than previously thought see here. Actually that's not quite right, that's the headline, it's just that they set the 'high risk therefore we advise invasive screening' markers quite high (high risk if your risk is greater than 1 in 250 iirc). This is to pick up as many fetuses with DS as possible, but of course exposes higher numbers to the risk of miscarriage.

It might not change your mind if you would terminate for a positive result, but it perhaps is a factor if your main reason for having an invasive test was information; there other options that might give you more of a clue (detailed scans for example) - even though they couldn't give you an absolute yes or no.

eidsvold Tue 28-Oct-08 02:04:18

here

This is actually a booklet by DSA UK about continuing a pregnancy after a diagnosis of Down syndrome BUT it gives a lot of information and resources for you to refer to to find out more about having a child with down syndrome.

eidsvold Tue 28-Oct-08 02:06:21

here is my story ..

My dd1 has just turned 6. She is amazing. She was born with a congenital heart defect that was repaired with two open heart surgeries at 8 weeks old. Healthwise - she has never looked back.

She attends a mainstream school as well as one day a week at a special education unit. She is doing so well we are looking at full time mainstream any day now. In fact she starts full time next week grin

Her language skills have improved out of sight and she is just coming on in leaps and bounds.

At school the children fight over who sits next to dd1, who works with dd1.

She is a real social butterfly - very outgoing and loves to chat and socialise. In fact I have to drag her away from school as she wants to stay and chat with all the teachers and parents.

She spent a year in nursery when we lived in the UK prior to emigrating to Aus as I went back to work full time. She has attended a mainstream kindergarten for two years prior to starting school.

I have lots of posts on here about her. She adores and is adored by her two sisters. In fact the baby is very proficient at cheering dd1 on. She can do a YEH RA RA(what she calls dd1) so well.

She has made our life so different and yes there are some tough times - handing your tiny baby over at 8 weeks old for open heart surgery is not a great thing. We have spent a lot of time, energy and some expense accessing therapy for her. Think that has made a big difference. Through her we have had such adventures and met amazing people.

Dd1 did not walk until she was 3 - then she sprinted. I used to think she would be my special olympian swimmer - now I think she could be my sprinter!! grin

Our antenatal story - at 20 weeks they diagnosed a very serious heart defect which would have meant at least three open heart surgeries before one and if she survived to be a teenager - probably a transplant. We were sent to London to see a fetal cardiologist who diagnosed a different heart defect - complete AVSD - holes in her heart ( serious holes) and a dodgy AV valve. He also said to us that if she was born without down syndrome it would be very very rare. We were then offered an amnio by Professor Nicolaides and we said no. Why - well this was our babe and she would be born. We would deal with it one day at a time. We would sort the heart defect and if she happened to have ds - well so be it. I think dh and I were very fortunate that we knew families with members who happened to have Down syndrome. These people - one was about my age ( in his 30's at the time) and one was a teenager. We had not seen anything to be afraid of. We were more worried about her heart.

I have since learnt in speaking with dd1's cardiologist that our chance was roughly 1 in 5 of dd1 having down syndrome.

I have no regrets about this life and am constantly amazed at how far she has come. To see her determination and her love for life. To see life through her eyes - so many people to chat to and interact with and so little time. Such joy in simple things. Her compassion and empathy for others. As I type this she is running amok with her two younger sisters - doing what siblings do.

The only sadness - that my daughter lives in a world in which some people cannot see past labels and their own prejudices to see the amazing little girl that she is and the amazing young woman she has the potential to be.

Jacksmama Tue 28-Oct-08 04:02:21

We had a nuchal scan that was fine but blood tests that showed a 1 in 84 risk of Down's. Had amnio the day after test result came in and it turned out no problems... but the scare was terrible and the wait for amnio results was the worst week of our lives. I feel for you, so much. For us, we just needed to know for sure so we had the amnio. Will be thinking of you - please let us know what happens!!

Flum Tue 28-Oct-08 04:08:54

Yeah I would concur with Eidsvold etc as the medics do seem to assume that you will definately want to know if your unborn has DS, I suppose because they assume you would want to terminate the pregnancy. But if you think you wouldn't then don't bother putting yourself through it.

I didn't do the screening with early pregnancies but did with this one as am older and have current kids to consider and because DH felt much more strongly about it than me and had to consider his feelings. So it all depends on how important it is to you.

WhatFreshHellIsThis Tue 28-Oct-08 09:26:29

I think the medics do assume you'd want to know, but I would dispute that all of them automatically assume you would terminate. We had the CVS because we didn't like the idea of spending the whole pregnancy wondering about it.

We weren't sure what we would do with a positive result, but we knew that we would rather be prewarned, as it were, to have time to adjust to the new reality, rather than spend four months worrying and wondering.

Also, some chromosomal disorders are not compatible with life, and we wanted to know if our baby had one of those sooner rather than later, as that rather changes the parameters of any decision on termination.

ladyhelen2 Tue 28-Oct-08 09:38:38

HI Emmaline. I am going through the same. I had my nuchal on Fri and was given odds of 1 in 29. It was all a bit of a shock as to be honest, I had not given the possible results any thought at all ( I have had 3 mcs in the last 18months and was just concentrating on seeing a heartbeat).
I was 38 on Saturday and the measurement was 2.6mm at 12.5 weeks.
I have decided to have CVS and have my appointment this morning. We decided with odds as low as 1 in 29, we need know one way or another. We are looking at it that we have a 96.5% chance all will be normal.
If I had odds like yours, I would do what a friend did, which is go to the FMC. I spoke to her last night as it goes and the scans and testing there sound great. Her odds went from 1 in 250 to 1 in 1800.
Good luck with it. Its a horrible time.

littleM Tue 28-Oct-08 13:20:40

At 10 week scan I had nuchal fold of 3.5mm and was told this could be high risk of chromosomal problems (not just Downs), nothing to worry about or could show cardiovascular problems. Went back a week later for another scan, nuchal fold still high and odds of Downs 1:10. Had CVS done straight after scan. After 48 hrs found out no Downs or Edwards. After 10 days found out that there is no chromosomal problems. If I had not had the test I would have worried for the rest of the pregnancy that there could be a problem. Now am due for a heart scan next week to check for cardiovascular problems.

It is a horrible waiting time but personally I would rather know than not.

reikizen Tue 28-Oct-08 13:31:23

Horrible isn't it? I got a 1:95 risk and went for an amnio where we discovered baby did not have Downs. Waiting for the result was awful as I'd convinced myself something was wrong with the baby and that fear still lingers now, that something is wrong but we don't know it yet. Bloody screening, I have a bee in my bonnet about it. It tells us nothing we don't know already (that there is a chance the baby may have an abnormality) but can be really anxiety inducing. Good luck.

elkiedee Tue 28-Oct-08 13:37:42

CVS can be done according to the NHS booklet which I suddenly studied cover to cover at 11-14 weeks - I had a combined test result (nuchal fold, blood tests and age) of 1:120 at 12 weeks so had the CVS test - as I will be 39 when this (2nd) baby is born. I was shocked as was low risk even at 37 with my first baby.

If your hospital does routine screening for a high number of women there will probably be a consultant who is very experienced at carrying out the test, and your risk will be lower than the 1:100 figure. Mine told me when she finished that the risk had already dropped to about 1:1000 because it had all gone very smoothly and the needle used to collect cells from the placenta was nowhere near baby. That was a London NHS hospital, and quite honestly I was happier to go to somewhere I trust the experience of the staff on matters like that than to go to a Harley Street clinic.

I got clear results, so I was lucky, and took time off work and dp took ds to his childminder the next day as they advise against too much lifting and carrying (and ds is one of the heaviest "things" I lift and carry normally, even if it is just from the bedroom down the stairs.

pyjamarama Tue 28-Oct-08 15:45:54

emmalinaC my heart goes out to you. We had a similar experience this time last year, so I know how awful it is. We went for the 12 week nuchal scan expecting to come away with some lovely pics for the grandparents, so were totally broadsided when we were told that the foetus had a nuchal fold of 5.5mm. This gave us a 1 in 10 chance of Edwards and Down's syndromes, and only a 10% chance of having a healthy baby (taking into account possible cardiac and kidney problems unrelated to chromosome abnormalities). We decided to have a CVS the next day, but due to a posterior placenta had to travel to Newcastle for it. The chromosome analysis was normal, as was the anatomy scan at 16 weeks, and the cardiac scan at 20 weeks.
It was a relief to have a normal CVS, and scans, but I didn't stop worrying until my son was born healthy five months ago. The whole pregnancy was increadibly stressful; however given a similar situation I would do the same again.
I think before you have a CVS you have to decide what would you do if it were positive?
If you would not have a termination, you may still want to know to allow yourself to prepare for a baby with extra needs.
The other thing to consider (and please don't flame me for this) is that Down's syndrome is a spectrum of disorders, with some children having fairly mild symptoms, who lead happy lives, other children are severely affected, and are very sick and do not survive long.
Best of luck whatever you decide, and I hope all works out well for you.

MildWest Tue 28-Oct-08 19:31:30

Hi Emmalina, we had a similar experiance earlier this year, and the whole thing left me feeling very sceptical about risks, statistics and so on...

We had a combined nuchal and blood test which gave a risk of 1:352 - blood test was 1:3000 ish but high nuchal measurement raised the risk right up - the consultant said he found these the hardest as was borderline 'high risk' and therefore wouldn't automatically suggest a CVS, due to the risks with that procedure.

We went to the FMC a few days later, and were shocked to be given an even higher risk - 1:15, so we immediately booked for CVS, as we needed to know what the situation was. FMC check nuchal measurement, bloods, nasal bone and heart valve. Our increased nuchal measurement and heart valve outcomes contributed to the high result.

So, we had a CVS. Not a pleasant experiance, but didn't really hurt and just had a tender stomach for a few days. Waiting 2 days for the results was horrendous, but thankfully all clear. Since had a cardio scan to check heart, and again all fine.

Now, to return to my original point re. being sceptical about these statistics...subsequent scans have since suggested the baby is pretty big - measuring term plus at 35+5 weeks. Both families are tall so totally expecting a big baby. It's completely feasible that this baby at term will be 10lb or bigger, whereas other term babies can be nearly half the size. Yet at 12 weeks (almost a third of the way through pg) risks are calculated on decimal points of milimeters, plus there are tolerances around the accuracy of the scanning machine and operator. Many of these screening techniques are relavtively new to practise and still being fine-tuned using outcomes.

I feel strongly that the objective of these tests - to provide a risk, not a diagnosis, should be made clearer. There are many other risks in all aspects of life (and pg) that we cannot screen for, and accept as part of life.

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