Active discussions

Meet the Other Phone. Flexible and made to last.

Meet the Other Phone.
Flexible and made to last.

Buy now

Please or to access all these features

Talk
Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

See all MNHQ comments on this thread

Original poster

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

100 replies

LiliAnjelika · 20/03/2007 21:09

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?

OP posts:
Original poster
LiliAnjelika · 20/03/2007 21:14

I also forgot to add that I also feel horribly guilty at not being able to feel elated at the sight of the little baby in my tummy. My partner has just turned round and said "I can't believe you, instead of being really happy that the baby is alive and kicking, you're worrying about some stupid statistics..." THis is not at all helpful as you can imagine. I am happy, but I'm also really worried...

OP posts:
MadamePlatypus · 20/03/2007 21:18

I haven't been in your position, but thought I'd bump for you.

bighug · 20/03/2007 21:24

Was your nuchal scan the very latest type of one, the one where they combine blood test results as well as the maternal age and the thickness of the fold? I have not had one of these done but I understand that they give a far more accurate risk (also expressed as 1: something but more accurate). Kings Hospital in Camberwell does them but only if you live in their area I think. Otherwise you can get them done here at a cost www.fetalmedicine.com - not sure if that is an option for you. It is the famous Dr Kypros Nicolaides's clinic. You might get a more accurate result (either lower or higher risk) which makes your decision as to the next step easier.

foxybrown · 20/03/2007 21:26

I'm 25 weeks PG. My 11 week scan showed a 1:5 chance of DS and 1:17 chance of another chromosonal defect. They also told me that there was a chance of an organ problem at this level.It was horrible, and my heart goes out to you.

I opted for a CVS, because I could have it done the next day - I just couldn't wait 3 weeks for an amnio because I would have gone mad. The procedure was painless (bit of an ache in my leg afterwards).

In my head I decided to terminate and be sterilised because I didn't ever want to go through it again. Whether I'd have actually done it I can't say.

At the 20 week scan it seems that all the organs are OK, although I won't be convinced until she is safe and born.

foxybrown · 20/03/2007 21:28

And I totally get what you are saying about not feeling elated. I have a DVD of this scan and even though she's probably OK, I can't bring myself to watch it.

jabuti · 20/03/2007 21:34

can i ask if your tests, lili and foxy, were the combined one, scan + bloods? because the numbers can change a lot when its combined...

foxybrown · 20/03/2007 21:36

No, mine wasn't. Had it done in Oz whilst on holiday. What is the blood test? Remember a long time ago that I had a triple (or double) test?

otherwisebecks · 20/03/2007 21:37

hi i havent been in your position but i can understand how you are feeling. i have a ds who is 6 and has down syndrome. we didnt know before he was born.
when pregnant with ds2 was undecided which tests to have as like you didnt want to take the risk of miscarriage and would never have had a termination. i was worried about what would happen if we had another child with ds. in the end i decided just to have the blood tests done and my ds was born with no problems. you may think you couldnt cope with a disabled child but you do and there is lots of help and support out there.

motherslittlehelpers · 20/03/2007 21:41

Leeds Screening Centre also offers blood tests - they send you a pack and you can go to a private hospital or your dr to get the blood taken and then post it off. They will also combine that with the interpretation of a nuchal scan measurement to give you a final value. If you're only 12 weeks I'm sure you can get some bloods done there or somewhere else to give you a bit more information, and your risk may change, which may help you to decide what to do. My sympathies as I know what you mean about just doing something to be reassured, too - if you think you wouldn't do cvs, amnio or termination, then take comfort in the fact that 1 in 42 is still a very low risk.

This table is from their website and shows some of the different test options.

Original poster
LiliAnjelika · 20/03/2007 21:42

My test was a combined test but I don't get the full result, which will take into account the blood test, until Saturday. My impression from talking to the consultant was that the blood test doesn't usually adjsut the result that much. They also took my weight.

foxybrown, I'm sending you lots and lots of positive thoughts. I'm sure everything will be okay with the baby.

OP posts:
eidsvold · 20/03/2007 21:43

sorry haven't got time to type a huge message BUT if you have time to do a search - there are tonnes of threads on this topic and our story appears there a number of times. My eldest has down syndrome and we knew before she was born - she was also born with a congenital heart defect which was repaired at 8 weeks old.

TBH - looking after dd1 is no harder on a day to day basis than caring for her younger sister. She attends mainstream kindy, and apart from therapy and outpatient appts at hospital - she is doing fab!

I have to go and get ready for the day so if I can later, I will try and find some threads for you. There was one quite recently.

WestCountryLass · 20/03/2007 21:46

An OSCAR test combines blood test results with the NTS to determine the risk of an abnormality:

www.babypremier.co.uk/baby_ultrasound/baby_scanning.asp?section=64&article=537

The triple test is different again:

pregnancy.about.com/cs/afp/a/afptesting.htm

If you do not want to have a diagnostic test at this stage, then you can have the AFP test in about a month and then make a decision about further testing then. Also, your 20 weeks anomaly scan could possibly identify markers as well.

Good luck

jabuti · 20/03/2007 21:47

hi foxy, the numbers can be higher when combined... for example:

scan 1:1800

fold scan + bloods 1:10.000

when i did mine, scan+bloods, they told me to wait for both before thinking anything of it.

mlh just posted some good links, i hope it helps!

paulaplumpbottom · 20/03/2007 21:49

I don't have a child with Downs, but I would suggest speaking to parents who do and maybe meeting with them. Maybe you could meet their children. I do have experiance with people with Downs and it can sometimes be hard work, but they are very sweet, affectionate and lead good lives.

jabuti · 20/03/2007 21:55

hi lili, bizarre huh! we had opposite info. i guess different hospitals, different work practices...

foxybrown · 20/03/2007 21:58

I know I panicked at the prospect of it, mainly because this is my fourth baby in 5 years and I really, really questioned my ability to cope with a child with special needs.

It also knocks you for 6, I went in thinking 'how jolly, lets see the baby' and came out devestated.

Keep us updated,Lili, I know just how you feel xx

gtimama · 20/03/2007 22:19

Hi Lili

I can't remember how many weeks my nucHal fold scan was, but I was carrying twins and one came out with a significant risk compared to the other. I too was 37 at the time. It was absolutely devastating. For me it was the thought of going through the whole pregnancy in a state of anxiety. I decided to have the CVS so that I could know for sure what the future held. I went to Kings College in London and Dr Kypros Nicolaides did it, he was such a lovely man. Thankfully everything was OK for me. I have two beautiful daughters, who are now 8 years old.

To this day I do not know what I would have done if the prognosis had been different. But I know I enjoyed the rest of my pregnancy having been reassured.

Good luck.

Original poster
LiliAnjelika · 20/03/2007 22:21

Thank you so much for all the reassurance and information so far. I already feel a little better. I think I'm going to pass on CVS because I wouldn't be able to forgive myself if anything happened. I think amnio has a smaller risk of mc so I may consider this depending on saturday's result.

IT's also really great to hear from parents who have children with special needs.

Am going to try and get some sleep now! but will return tomorrow.

OP posts:
hester · 20/03/2007 22:29

So sorry you're going through all this worry, Lili. I've not had exactly the same experience, as my nuchal fold scan gave me very good odds so I didn't proceed to CVS or amnio. However, my 20-week scan shifted my risk up to a terrifying 1 in 10. I turned down the offers of amnio and termination at that time (this was a very wanted baby after years of fertility problems). So I really do understand what you are going through.

In terms of specific advice, I agree with others' suggestions to have blood test. You might want to attend Kypros Nicolaides' clinic in Harley Street where they also look at the length of the nose bone - this is pioneering and will help inform your risk factor further. It does cost - about a hundred quid when I went - but if you can get there and afford it I would consider it.

Re. CVS and amnio - if you are considering going ahead I recommend you go to someone really good. They usually quote a miscarriage rate of between 1 and 2%, but this is lower in the hands of a skilled operator. I understand Nicolaides claims he has never had this procedure result in miscarriage.

Best of luck to you. By the way, my dd was and is absolutely fine.

Clary · 20/03/2007 22:39

lili re CVS, one of the main reasons for the apparent highre risk of M/c is that it is done so early and a number of women miscarry anyway IYSWIM.

Also second hester - risks much lower if done by skilled practitioner. Amnio is that much later, so, if you decide on a termination, it's a lot worse to go through (I would imagine - thank goodness have never been there).

Lots of people on MN including eidsvold, teecee and loads of others have DCs with Down's. Do a search and you will find some heartening stories.

Good luck whatever you decide to do.

koonelly · 20/03/2007 23:02

lili, realy feel for you understand your worries as was high risk myself. Had you thought that a large part of that risk facter is due to age? Did you see what the actual measurement was as i don't know whether i kidded myself by looking at the actual measurement and thnking that actually wasn't too bad it was just my age that made it seem that way??

eidsvold · 21/03/2007 00:34

back now - had to take dd1 to speech therapy

Here are a number of threads on this topic you might want to look at:

here

link to our story and some very old pics of dd1 when she was about 1) ink{http://www.mumsnet.com/Talk?topicid=49&threadid=105104#2268155here

hth

eidsvold · 21/03/2007 00:35

if you do a search on my name - lots will come up - but a fair bit about dd1 and down syndrome. if you want to contact me - feel free.

eidsvold · 21/03/2007 00:36

oops mixed this one up

here

foxybrown · 21/03/2007 10:06

Hi Lili, hope you had a restful night.

Re. CVS. It is my understanding that the proceedure carries no greater risk than an amnio. It is only increased insofar as there is a greater risk of mc earlier on in any pregnancy. For me, the prospect of an amnio weeks later and then the possibility of a later termination would have made the whole issue a million times worse.

Where are you in the country?

There is still a very, very good chance your baby is just fine.