Blood tests come back as high risk for downs

[Mandymoo]

I am 1:150 and have to go to hospital tomorrow to talk to someone - really scared now. What will they do/say? Anyone had experience of this?? TIA XX

Where do you live? Have you had a nuchal fold? How old are you?

And (sorry to ask) would you terminate for Downs, or any other trisomy?

I live in Cornwall so havent had a nuchal fold as they dont offer them down here. I am 31.

And i have no idea whether i would terminate or not - my head is just spinning!! XX

Mandymoo...You might find this thread quite poignant.

I would pay for a nuchal fold, in your circumstances, if I could afford it. Particularly if I would terminate for DS or a trisomy, or consider it.

I would not have a CVS or amnio, before having a nuchal fold to check.

It's worth noting, if you are 1:150, then you have 149 chances, out of 150, of not having a baby with DS.

Any idea how much a nuchal scan would cost and am i too late to have one at 16 weeks?

When I was pregnant with DS1, I was offered the triple Barts test. My risk for my age was something like 359/1. After the test, this rose to 150/1. Like you, I was shocked and worried.

My consultant said to consider that I had 149 chances of having a perfectly healthy child and only 1 chance of having one with an abnormality. They offered me the option of going to Kings College Hospital in London for a detailed scan (this was before the advent of nuchal fold scans - I was part of the research project for that when pregnant with DS2). All the measurements from the scan came back as being within normal parameters and DH and I decided not to take matters any further. DS1 was born without any problems.

Please remember that this merely gives a risk factor. There is no certainty about it at all.

If you do decide to take the testing procedure further, I would suggest that you discuss all the options with your GP or midwife and decide in advance what you would do given either outcome prior to undergoing the tests. You can't make an informed decision when you are dealing with the shock of being told that there is a problem.

Good luck. I'm sure you'll be fine.

Unfortunately 16 weeks is too late to have a nuchal fold scan. The norm is 11-13 weeks. The scan is again only indicative and is not conclusive. Your only options now for certainty is either a CVS, an amniocentesis or a cordocentesis (this is where they take blood from the umbilical cord). I believe that the cordoncentesis gives a quicker result than the amnio and is less dangerous for the baby, but I'm not absolutely certain.

I've been here but had the nuchal test before the blood test. Think that 16 weeks is too late for the nuchal test. I'd go for a detailed scan to check measurements.

The cvs - will also be too late at 16 wks?

Milward - can i just go and ask for a scan?

I have a friend who was told her whole pregnancy that her baby was a downs baby, and came out perfectly normal!!!!!A beautiful healthy 8 year old now!!!!!

Def. too late for a nuchal scan but you should be able to ask about having a detailed scan when you see someone tomorrow.

Freckle - Most regions can do a 'quick' result, for amnio or cvs, just looking for Down syndrome (and a couple of other more common genetic problems) which takes 2-3 days...this is followed up by the 'full result' (when all the chromosomes are looked at in detail) which can take a couple of weeks. Mentioning this as cordocentesis tends to only be offered in very specialist fetal medicine units.

I had a 1/100 downs risk after a nuchal scan, the same probability of complications for an amnio so I had a CVS done at the Fetal medicine centre in London the same day as we got the first set of results. The staff were wonderful, it didnt hurt, just felt a little weird as I watched it on the scan as she did it. We got the results 2 days later which thankfully were clear. No idea why the risk was so high, only that he was a very big baby with an enormous head (100% percentile). Good luck MM, remember it is only a risk not a diagnosis

thanks elastamum - XXX

Hi Mandymoo. Arrr sorry you are having such a worrying time hon'.

Ummmm, not sure what else I can add with regard to the tests etc.
I do however have a little girl with Down's syndrome, she's a perfectly "normal", happy, in fact bloody over the moon estatic, little girl who loves life and loves popele and in return life and people love her. She's pretty much the most perfect daighter I could wish for. I'm not sure how you're feeling, and neither are you probably, so I don't want to ram how great my DD is and stuff about DS at you. I'm just here that's all, and more than happy to talk about my girl (my favourite sunbjesct!) and answwer any questions.

I might just link you to another thread over on special needs if that's ok and then if you want top read more you can. But seriously talktome,here,email,phone,however, whenever you want.

Thinking of you, TC xx

Link will follow when I find it.

Have a look here

My risk with my DS came back as 1:140 and I panicked. You are too late for a nuchal translucency which is where they measure the fluid behind the baby's neck but not for a nuchal fold which is where they measure the skin fold. I had a nuchal the day after my results. I was 16 weeks pregnant just like you. It cost us £180. They also repeated the triple test and added a 4th hormone into the equation. My risk factor became 1:1000's (can't remember exactly)Still not a definitive diagnosis but it certainly made me feel a whole lot better. I also asked if they could see a nasal bone as 60% of DS babies are born without a nasal bone. This is not used as a measure yet but is due to be used soon. Unfortunately my tests were carried out in Leeds which is not so good for you but I enjoyed the rest of my pregnancy and now have a beautiful 16 week baby boy. Good luck, I know how you feel xxxx

Mandymoo - I think you could just ask for the scan. My detailed scan have lasted up to 45 mins and loads of measurements were taken. All the time the doc explained what they could see. best wishes xxx

I had a much higher risk rating than you and had to go for the counselling. They just talk you through your options re further tests. I declined them all as I decided I would not terminate the pg either way and I didn't want to risk a miscarriage having already nearly lost him a few weeks earlier. I had to wait until my 20 week scan before I had any reassurance: it is not conclusive, but they can look for certain signs if they know you are high risk and they didn't see anything amiss then. As I say, it wasn't conclusive, but it put my mind at rest (sort of!) good luck with the talk tomorrow. I can well remember what you must be feeling right now.

thanks everyone and thanks Thomcat for the link - i really appreciate it XX

If you are seeing a genetic counsellor - they usually go through your risk and discuss further testing options... when I had my scan with dd2 they found a soft marker ( I didn't have the blood tests done) and as I already had dd1 with down syndrome - that soft marker made my risk higher than someone in the general population. The counsellor that I saw simply worked out what our risk would be based on our family history.

WIth dd1 they found a hard marker after a fetal cardiac scan and advised us that it was very probable that our dd1 would be born with down syndrome - given the type of heart defect. They then again told us what tests were available - basically an amnio at that stage as I was 22 weeks pregnant by then.

Both times we refused an amnio as we had talked and decided these were our babies and we wanted them. Everyone involved in both pregnancies - fetal cardiologist, and the people here in Aus were very supportive of our decision. We were given detailed ultrasounds and dd1's measurements fell within the normal parameters despite her having down syndrome. The detailed scans were brilliant.

There are a number of threads about being pregnant and having a high risk of a baby with down syndrome - I will try and search for them and link them for you a little later....

My dd1 here

is amazing and I would not trade her for hte world ( okay when she is being a little miss 3yo perhaps ) but we really have been blessed with more amazing and fabulous times than tough times.

Mandymoo - see my answer to your post in May Babies too. You are not too late for a nuchal fold scan. As I said in my post they do this at 20 weeks here (Cardiff) when you have your detailed scan.

do consider further scans etc before you make a decision based on your blood test.

Mandymoo, just to say am thinking of your and your dh/dp having faced similar only last week.

This sounds obvious but one thing I will say is that it helps enormously if you are both united in your decisions about where to go from here. I don't mind admitting that my dh and I had different ideas about what to do when we got our screening results and this caused so much anxiety and stress. Thankfully, we came to the same decision and once we had decided what path to follow the whole thing suddenly seemed clearer. Remember, do what is right for you, your hubby/partner and family. Plenty of folk have (strong) opinions on this subject but it is not for them to tell you what to do. Read all the advice you can, then make your decision together and stick with it.

I won't deny it is a very trying time, but if anything good ever comes from situations like this, it made me realise just how incredibly strong our marriage is. Be strong Mandy, look after one another. Good luck in whatever you decide to do. xx

thanks guys - off to the hospital in a bit - my head is full of all sorts but we havent really decided on anything. We're just going to go along and see what happens today. 1:150 doesnt really strike me as that high a risk when you think about it. BUt i am only 31 and have no knowledge of my family medical background as i am adopted. Anyway, thanks for all your support XXXX

Mandymoo, I've posted on the May thread too - one thing to ask, if you do decide to go ahead is what the statistics are of the person who would do the amnio (in terms of miscarriage risk), as this may also give some comfort.