High risk Downs result - horrible day :-(

[Casablanca78]

Hi all,

So I posted before about the sonographer being unable to get the nuchal fold measurement (although thought it looked ok and nasal bone present) at my 12 week scan. I was offered the quad blood test which I had last wednesday. I was told I'd get a call within 3 days if high risk so I thought I was out of the woods. Went in to the ante natal clinic today for a completely separate appointment and as soon as I arrived I was taken in to a "quiet room" and given the bad news that my result came back with a 1 in 23 risk of Down's syndrome.

I was given the option of having a CVS this afternoon as they had an appointment free or to wait until 16 weeks (I'm 15+2 today) and have an amino. Obviously both carry the risk of miscarriage, although they said amino slightly less so. Then a 3rd option was put to me to go to the FMU at St George's in London and have a "safe test" which is basically the Harmony test. Clearly this seemed the best option and unbelievably we were able to get an appointment this afternoon (after initially being told Thursday was earliest but we called back again and spoke to a lovely midwife who agreed to let us come today).

So all happened very quickly and by 3.30pm we were there and having the scan. Firstly with a sonographer and then with the very top guy Professor Basky Thilaganathan. Both were happy that the nuchal fold looked normal and they could see no abnormalities so I was allowed to proceed as suitable for the test. So my bloods been taken and I now have to wait around 5 days for the result (they do the screening there instead of sending to USA like the private clinics do).

Such an emotional day, feel so drained. We go on holiday on Friday so I'm expecting my result through in the middle of the week we are away - not sure how to feel about that. I guess I just need to try not to dwell on it or think too much about it before then (I tend to assume the worst). The holiday is with all my family so at least I'll have a good support system if it is bad news.

I guess I just needed to get it off my chest and would be lovely to hear from ladies who have been in this position. Should I take the fact that scans showed no signs of concern as something to hold on to or is it all really down to blood work?

Thanks for hanging in there and getting to end of this epic post! x

[chickenfuckingpox]

i didn't have the test as an older parent i knew my risks were higher than others i just would not terminate for downs syndrome so i didn't take the test the amount of grief i got from some hcp was awful but it was my personal choice having grown up around down's children in my church i didn't have the fear i would be hit with a situation i knew nothing about

in your situation i think you shouldn't worry as much as you are the tests so far have come back positive

im sure everything will be fine for you and you will have a healthy baby

[chickenfuckingpox]

i meant positive as in normal (sorry tired)

[SWFARMER]

My mum said I had 1 in 20 chances or something. She was 40 when she had me and decided against any further tests. I was fine :-) she had a friend who was told her child would definitely be downs. (this was 20 years ago mind you) and was advised to abort. She didn't and her baby was perfectly healthy and did not have down syndrome

[FizzyFeet]

You have my sympathy, OP - what a horrible day, you must be feeling blindsided by everything. I have recently been through a similar thing - our Nuchal fold looked ok at the scan, and we were told that we would hear within days if the risk was high. A week and a half later got the call with a high risk for downs. We went privately for the harmony to have the full picture.

I did some reading here and it seemed to be that in the absence of harmony or cvs/ amino, the scan seems to carry a bit more weight than the bloods. So the fact that you have had a good scan should be of some reassurance, though you'll need the harmony results to be more sure. It's great that the results will be back so quickly and hopefully you won't have this hanging over your head for too much longer. The antenatal tests/ choices board on here is useful for further reading if you haven't come across it yet.

[PerfectlyPosed]

My friend had practically the exact same thing but is now 32 weeks pregnant with a seemingly healthy baby. There are still a few unanswered questions that they won't know until she is born but Down's syndrome has been fully ruled out. I think she was quite badly treated and was passed from one consultant to the next and told all the negative possibilities rather than them pointing out the positives. I would just try and put it out of your head for a few days (impossible really, I know!) and wait for the results.

[Casablanca78]

Thanks ladies, it's been a whirlwind of a day and emotions all over the place. Thanks for the pointer on the antenatal results board, I hadn't found that one. I'm taking some comfort having now read that my age (37) and the perhaps also my high HCG levels (I'm on meds for the terrible nausea/sickness) might have attributed to higher quad result.

[FlightofFancy]

hi casablanca - just wanted to send support as we've been in similar position. High risk from bloods and some possible anomalies at 13 week scan meant we were also referred to the FMU at Georges. I'm really glad they've properly introduced the testing now as earlier this year I took part in the pilot, so had a cvs but also the bloods taken to test if valid - the paperwork explained it was a large pilot so I'm sure your results will be really reliable. We also had some of our scans there with Basky, and he was very reassuring. We ended up with the all clear and I'm now 37 weeks and waiting for new arrival with fingers crossed. Hope you have the same, but you're in excellent hands x

[Doublebubblebubble]

I don't have any experience of what you are going through but I just have to say how good Professor Basky and the FMU at St Georges is and are.
I'm sure you are in the best hands and I wish you the best of luck xx

[Grizzer]

Hi Casablanca. I was given a 1 in 2 chance of downs with dd & told to think about termination. Had a cvs & no downs so they decided it was heart condition. She is now 5 and perfect (apart from a bit of attitude!!)
This pregnancy my risk was 1:25 & they sent bloods off for DNA testing. Came back as 1:103. They still advised an amino as they consider that high risk but I am happy to accept that result. My scan was also fine & nuchal fold was 2.2 which I think is fine. i have my 20 week scan on Sunday so I hope they might be able to see more then but I am not really worrying about it. I was 37 with dd & so I think results are automatically higher than normal. I'm 42 now so no surprise to have a high risk result!
Hope everything works out for you.

[ChicaMomma]

1 in 23 though- that's still 22 perfectly healthy babies, the odds are still overwhelmingly in your favour, like 96% chance everything will be OK. that's pretty good. Also, they'd be able to tell the markers from the scan- like poor nasal bone, wide nuchal fold, calcifications on the heart- i would bet my bottom dollar that everything will be fine.

[Casablanca78]

Thanks ladies. I'm trying to stay positive but can't also help thinking that someone's got to be that 1. Was told around 5 days for results, I'm guessing that's working days so should get a call Monday or Tuesday. The waiting is awful and we are off on holiday tomorrow morning. I'm paranoid I may also get a failed test (1 in 100) and not get any answer at all. In which case I'd have to have an amino when I get back as would be too late then for CVS.

Double - if I do end up needing an amino then I'm going to ask to go back up there and have the prof do it!

[Casablanca78]

Hi ladies. I've just got back from holiday hence delayed response but I'm very pleased to say I got low risk results for all 3 trisomies. A very stressful wait but such a relief! Thanks for all the support.

[Skiptonlass]

Fantastic! Really happy for you :)

Hope the rest of the pregnancy is stress free!

[mrslebon]

Yay, brilliant news! I'm currently waiting for my call (I'm 43 and 13 weeks with my 2nd).

[Em2630]

Hi Casablanca78,
I was just about to write my own post as I am in the same situation as you. I had my harmony test yesterday. If you need someone to talk to, just message me.

Good luck xx