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?

Just logged back on for the day. Sorry to hear about your experience with the radiographer, sorry to say too that I am not surprised. as far as King's go they take referrals from all over the country (called tertiary referrals). I f I was you I would talk to Prof. Nicolaides when you go for your scan on Wednesday. Also take a look at this website www.mothers35plus.co.uk/tests2.htm
it might prove useful.
Fingers crossed for wednesday

I haven't read the whole thread but my scan results were 1:500 (considered low) Then, when combined with my bloods they changed to 1;25000 HUGE difference IMO.

I sent for a pack from the Leeds screening centre and my MW took the bloods and I sent them off. They said that often age plays too big a factor when hospitals calculate the risk.

Hope you get better news tomorrow!

Sure you'll be fine. In percentage terms your risk is actually pretty low (don't ask me what it is though). Just sounds more alarming when you say 1:42. My risk was 1:15 with a nuchal fold of 3.6 (also a previous termination with a baby with Edwards Syndrome) I was 37 too. Baby absolutely fine. Now a bonny 21 month year old eating cream crackers as we speak! (I have a theory about boys and increased nuchal folds.)

All seems a long time ago now but was worried at the time - so heart does go out to you.

Know exactly how you feel. I would bet it is your age which is bumping up the result. I had exactly the same experience with both my children born when I was 35 and 37 respectively. I was classified as high risk both times - the consultant said it was my age which moved me into the high risk bracket. I had an amnio for both babies - utterly terrified for the first one and actually hoping to be sent for one the second time. Both babies were fine and the amnio really put my mind at rest. The guy who carried out the amnio was very reassuring telling me that at his hospital (in Paris as it happens) they'd never had a miscarriage as a result of an amnio and that it really was very rare.

I really feel for you - I had an almost identical result from my nuchal scan a couple of years ago. It was a huge shock as my result during my first pregnancy gave me a risk of around 1 in 1,500, and I expected the same thing to happen again.

I opted to have CVS. I didn't think I'd actually terminate if the baby had Downs, but I couldn't cope with another 6 months of not knowing. I felt that if I was going to have a baby with Downs, I needed time to prepare - myself, and everyone else before the baby was born.

Anyway, I was lucky, and my little boy was fine and is now a rampaging toddler. A friend of mine also had a scare a few weeks ago. She also had a CVS and her baby is fine.

I completely lost it when I had the 1 in 40 result, so I understand how frightening it is, but if you do decide not to have a test, remember that the risk is still less than 3%, so it is very likely that all will be fine. I really hope so.

I had a 1 in 4 risk given to me after my 12 week scan showed problems and i was given a nuchal. I am 34 and this is my 2nd pg. I understand how you feel, we decided to have an amnio to give us time to think, and by the time we had it ( last wed) knew wed love and want the baby whatever, the amnio was fine, and the 1st results came back ok but we are waiting for the 2nd results in 2-3 wks time. We are also booked in for a speciailst heart scan at 24 wks. It adds extra worry, and i understand how it can take the edge of the scan,but you know how u and ur partner feel, talk lots and u will come to the right decision for u and your family, it is noone else decision but yours ( beleive me we had much unwanted advice, my mother told me if i had a disabled child it would ruin my ds life and my dh and i would split up! I decided to ignore her!)

I had a 1 in 4 risk given to me after my 12 week scan showed problems and i was given a nuchal. I am 34 and this is my 2nd pg. I understand how you feel, we decided to have an amnio to give us time to think, and by the time we had it ( last wed) knew wed love and want the baby whatever, the amnio was fine, and the 1st results came back ok but we are waiting for the 2nd results in 2-3 wks time. We are also booked in for a speciailst heart scan at 24 wks. It adds extra worry, and i understand how it can take the edge of the scan,but you know how u and ur partner feel, talk lots and u will come to the right decision for u and your family, it is noone else decision but yours ( beleive me we had much unwanted advice, my mother told me if i had a disabled child it would ruin my ds life and my dh and i would split up! I decided to ignore her!)

LiliAnjelika - how did you get on, how are you?

Hi everyone. Just come back from a really relaxing (very) long weekend in the countryside. Everyone who said that the results of the blood test could significantly adjust the results of the nuchal fold scan were right. I had to phone up the hospital on Saturday morning for my results, and as you can imagine, I was terrified. I was told that my adjusted risk is now 1:295, a huge relief, but nevertheless a result that still places me in the high risk category, but only just. (The NHS is moving towards a 1:250 threshold but it also feels pretty arbitrary anyway.)I cancelled my appointment with Dr Nicolaides in London as I'm quite happy to live with those odds, come what may. However, If I ever get pregnant again, and opt for a nuchal scan (which I doubt), I will definitely be going there. Thanks to everyone wo=ho pointed me in his direction.

Missmap, I hope everything goes well with the 2nd lot of results from your amnio and with the heart scan. So stressful for you and your dp. I too have had lots of family advice over the weekend. My dad, who fancies himself as a bit of a statistician, was pooh-pooing the risks, whilst my great auntie started to go on about "how nobody in our family has ever had a child with problems....blah blah..." All well-meaning but not particularly helpful.

Teecee, thanks for everything. I will definitley keep you posted with news.

Last year, i was given a 1 :49 risk and now ds2, 7m is sitting on my lap and playing with the keyboard and perfectly healthy, . At that time I was 34. Sorry short, but fighting devil?s hands

Haven't read all of this thread so sorry if I'm repeating what others have said.

When I had dd2, 7 yrs ago, nuchal fold tests weren't widely available. I had the triple blood test, and my GP 'phoned me to tell me that there was a high risk of me having a Down's baby. I decided then that I would take the amniocentecis they offered me, simply because if I was going to have a Down's baby I wanted to be prepared both mentally and practically.

Well, the witch who is supposed to councel you minutes before you go in for the test simply said 'You do know your risk of having a Down's baby is lower than the risk of miscarrying because of this test, don't you?". Not the sort of thing you need to hear just before you go in.

Anyway, she wasn't. I had had no experience of Down's children then, but now, in dds school, there are two in the reception class. And what witty, fun, engaging beings they are, too. Oh yes, having read TC's post that reminds me - they get spoilt ROTTEN by the other kids in the school!

Follow and trust your instincts.

LiliAnjelika
So pleased to hear from you and read such a positive post. Those are great odds babes. Everything is going to be ok, no matter what it's all ginmg to be ok. You're having a baby You'll have a wonderful son or daughter some time in October and you'll love them unconditionally, just like you do your other DC. It would be great to hear from you now and then, I hope you stick around on Mumsnet TC xx

And I know people don't mean anything by this but I have to point out, just because I do, but in the nicest possible way:

• it's a baby with Down's syndrome, not a Down's baby. A little girl with Down's syndrome, not a Little Down's girl. People with Down's syndrome are exactly that people first. The fact they also happen to have DS comes after. A small but important point.
• A baby born with Down's syndrome is still a healthy baby! There was nothing wrong with my DD, she just had Down's syndrome.

Don't anyone feel they have to come back and say sorry, just don't ever do it again!

Well said TeeCee - she's MY girl not a downs girl! (and she has downs syndrome) The semantics of this DO matter.

Glad to hear you're doing well Lilli, keep us updated on your progress xxxx

Will definitely stick with MN and keep everyone posted.

Must sort out my MN email facility too. Would love to get in touch with people individually in future...

Good luck too to everyone who's PG now and who posted stories about their experiences of nuchal scans, CVS, amnios.

i've just read the messages about DS and in particular the one posted by TC about a baby with Downs is not a Downs baby but a baby with DS - my 3rd was born with DS (not expected) and he's now 8 wks - i introduce him by name and don't tend to add the "and he's been diagnosed with ...." because he's just my baby and thats it. you don't think it's going to happen to you and when they tell you it is a shock but at the end of the day, he's mine and i think he's lovely.

Massive congratulations MillayJ

Congratulations MillayJ, if you feel like posting a photo, or telling us about your boy, I would love to hear how things are going xx

Well, my boy is just gorgeous! he was a couple of weeks early and the pregnancy was harder than my earlier two and yea, the diagnosis was a shock but what i am amazed about is how time helps you to not only come to terms with DS but now i feel so proud of him - and he's yet to give me a smile so he had better do that soon!!! I can't believe how sad and tearful i was for those first days cos now i don't i will post a picture when the dig cmr decides to work!

Hi just wanted some advice.

My wife (sorry, I'm a useless bloke!) recently had the blood test for DS and it came back high risk (she's 31 and we have one beautiful little girl of 17m).

They gave her a score of 1:206 and we have to see the specialist on Thurs (tomorrow).

We are absolutely terrified and were good for nothing for 24 hours.

Should we be particularly concerned by the score of 1:206?

We don't have any frame of reference as our first baby's results came back low risk.

Any words will help.

Thanks

Hi CSpeak, I haven't any advice but I'm bumping this for you.

If you start a new thread expaining things in the title, you'll get lots of support and advice. Good luck tomorrow

Hi CSpeak. Have you read the thread. There's lot of great advice in it. My initial scan result was 1:42 but it went down to 1:295 once they'd factored in the blood tests. The private clinic I went to said that the NHS were thinking of changing the low-risk/high-risk boundary from one in 300 to one in 250 which shows that the definitions of high risk/low risk are a bit arbitrary anyhow, and are largely based on the difference between the risk of DS versus the risk of miscarriage from a diagnostic test like an amnio or CVS. Good luck with your pregnancy and I'm sure you'll be fine. I know loads of people who've had those kind of figures and everything turned out okay.

Hello everyone new to this.....I'm 13 weeks pregnant and have been told by doctors I have a very high chance of my baby having Down syndrome 1:2 chance I am really scared as I'm only 24 I'm too scared to have to cvs due to risk of miscarriage I had miscarriage at 20 weeks last year around this time and can not mentally go through it again.has anyone else been told this and had a healthy baby? advice would be so much appreciated

Yae this is an old, old thread - you may want to start a new one about your situation? I'm sure there will be people along to offer you support and advice then :-)

Just wanted to say my down syndrome screening came back high risk, although not as high as yours. The way the NHS currently screens for downs can be wildly inaccurate.

I was offered an appointment with a consultant first thing on a Tuesday morning. This all happened on the Friday of a bank holiday weekend so they didn't wait around.

The consultant was very reassuring and did a thorough scan. He presented me with all the options, from doing nothing, having an amnio or having the harmony test.

I opted for the harmony test. It is a private test so cost £400 bit was just a blood test done there are then at the hospital. It is totally safe for the baby (no different to any other blood test) and tests the baby's dna from your own blood giving a much more accurate result. The consultant explained that you still get a 1 in whatever result from this test because it's American and so they would never give a definite positive/negative for risk of being sued but basically if you get a 1 in 10000 score then your baby doesn't have downs. They also test for other genetic abnormalities and can even tell you if it's a boy or girl. It was definitely the best money I have spent in a long time as it put my mind at rest for the rest of my pregnancy and if the result hadn't been what I hoped it would have given me time to decide what I wanted to do and prepare for the arrival of a disabled baby.

I hope it all works out for you. I know pregnancy can be worrying at the best of times.