1:14 risk of Downs

[Taranta]

Hi, I had my nuchal scan today at 12+2. This confirmed I had lost one twin at 7 weeks and am now carrying just one baby. I have been given a risk factor of 1:14 for Downs (1:785 for the other Trisomies) because I'm 41, the nasal bone wasn't very clear, and my bHGC level was really high at 7 MoM. The rest of the nuchal was fine.
I'm booked in for a CVS tomorrow and am feeling very low about the whole thing. Has anyone had similar sort of results and what was your outcome?

[KittyandTeal]

I've not had similar results but have been through a bad scan and resulting amino which is very similar to a cvs.

I know how gut wrenching the worry and wait is. Have they said they will fast track your cvs for you?

I'm sorry you have lost your twin, that on top of the worry must be very difficult.

Have you spoken to anyone at ARC? They are just fantastic and will have experience of women in your situation.

My result wasn't a happy ending but arc have really helped every step.

There should also be a screening midwife or someone similar that you could talk to if you wanted to.

[Taranta]

Thanks kitty for replying, its a stressful business. Well I've been told I will get my results on Friday so in the scheme of things it's not long to wait, but even so... I have my DS with me now but will call the ARC tomorrow morning and have a chat with them. I hope they're used to people blubbing on the phone!

[KittyandTeal]

I'm glad you don't have to wait too long for your result, it still feels like a long time though.

The arc women are very used to people blubing on the phone to them. They also have a forum which is fairly controlled ie you only get access to the bits relevant to your situation. I've found the forum a real life line for me.

[Choccyhobnob]

Oh Taranta I'm so sorry for the loss of your twin, and it must be such a worrying wait for results of the cvs. I hope the process itself is ok for you. I know that a few people on this board have had higher risks than that (1:5 and even a 1:2) and their baby has turned out not to have Down's so there is always hope. and 1:14 means 93% chance your baby is fine

[Taranta]

Thank you Choccy for your kind words. I had been aware I was likely to lose one twin at an earlier scan so it was sad but not unexpected. I am trying to stay positive, I guess someone has to be the 1 in the 1:14 however. The indistinct nasal bone is worrying but the absurdly high bHGC results are just as terrifying - I'm not sure what other explanation there can be for that .

[daluze]

I don't know what can be the reasons for high bHGC, but I had a risk 1:7 with different markers, and my boy doesn't have Down syndrome nor other chromosomal abnormalities. He is perfectly healthy 2 year old now.
Waiting for CVS results is a very worrying time, please try to take care of yourself! Hugs xx

[CrispyFB]

I'm sorry you're going through such a stressful time.

I wonder if the high bHCG is because you've lost a twin? Were twins taken into account with the measurement? I'm not an expert at all, I'm just speculating here. Bleeding can also cause high bHCG.

For what it's worth, I had 5.43MoM bHCG with my last pregnancy and a risk of 1 in 5. DC4, now 12 months, has typical chromosomes. I took baby aspirin to reduce the slightly raised risk of clotting issues because of the high bHCG and had an extra growth scan at 28/32 weeks due to a slightly raised risk of placenta issues, but that was all.

I hope the CVS goes well.

[Kaz1904]

Hi there,

I am 35 years old and got a risk factor of 1:32 three weeks ago based on my blood results and age. Nuchal was fine. Free beta hcg was 4.01 mom and papp-a 0.53 mom. I didn't want to risk a miscarriage with the amnio, this is my first baby and could be my only chance. We opted for the harmony test and can't recommend it enough. We were told it would take a fortnight but we got our results a couple of days earlier than that. We were delighted that we were given a very low risk of all 3 trisomies (

[Kaz1904]

Oh and I was told at nhs screening that they couldn't see the nasal bone but at private clinic they located it immediately and said they couldn't not see it! I just don't think she bothered to try get baby in correct position to view it as I knew she was running late with appts and prob just wanted us out the door. I'm now almost 19 weeks and had a detailed scan and all is well with baby.

[Taranta]

Thanks for your messages daluze, crispy and Kaz it's good to have your opinions on this and experiences, and so glad you had good results in the end. kitty I meant to add earlier that I'm sorry your story didn't end well, I wish you better luck in the future.
I can't have the Harmony test because the vanishing twin would affect the results unfortunately, so that's why I'm having the CVS. I agree it would have been infinitely preferable! I haven't had any bleeding crispy but i do think the twin might well have increased the bHCG levels. But I had the scan at the FMC so I can't imagine they don't take these things into account, and it is absurdly high. And of course there's the nasal bone thing too, the sonographer said it was there but indistinct and not bright white as it should be - maybe if I had been scanned next week it would have ossified...
It just doesn't feel good.
DH is being very 'no point worrying until we know for sure' about it which is pretty bloody impossible quite frankly - especially as its me having the needle in my belly tomorrow! I've got a residual cough which is still irksome do I hope to God I'm not coughing mid procedure. Too much to worry about this week xx

[CrispyFB]

Ah, if it was the FMC then yes, they should have taken it into account if it were possible to do so. For all we know, there is no reliable way to take into account a vanished twin so they just have to treat the pregnancy as a singleton in order to be consistent. Although I'd have thought they'd have said something if it was the case. Then again it can totally depend on the person doing the scan as to how forthcoming they are.

I can't remember the exact details now, but somebody told me that whilst a large proportion (think we're talking at least 50%) of babies with Down Syndrome don't have a nasal bone at this point, the reverse is not true i.e. the absence of a nasal bone does not mean a 50% chance of Down Syndrome if that makes sense. So having a nasal bone is a great sign but not having one isn't necessarily a bad sign. I can't remember where I read it now or I'd link you to it - however if you're obsessively searching (like I do with these things despite my better judgement!) it might be something to look for!

Frustrating not having the Harmony option but I guessed the vanishing twin was why. Especially as the vanishing twin often does have something wrong which is why they haven't grown.

Bad luck on the cough. I've had one for over a week keeping me up and I'm not even pregnant and it's bad enough. I hope it goes soon.

[Taranta]

Well I had the CVS today, back at the FMC, which wasn't as bad as I'd feared it might be at least. Now I just have a bit of an agonising wait for the results...

[KittyandTeal]

Hope you're not feel too sore after the cvs. I think I remember being a little cramps after but apart from that I was ok.

I wonder if your lost twin could have had T21 which is possibly why he or she died (they like a massive proportion of miscarriages are due to trisomies) that would account for your very high hcg levels iyswim.

I'm keeping my fingers crossed for your results.

[CrispyFB]

That's a good suggestion Kitty, it could be a possible scenario.

Taranta - I hope the wait passes quickly. I had a result from the late amnio I had with DC3 (1 in 34.. I'm cursed with these things!) after 36 hours when I had it at Kings. Amnio in the morning, phonecall the following evening (yes, they rang at 9pm, I wasn't expecting that!)

[Taranta]

That's true kitty and crispy I had imagined it was a chromosomal issue that led to losing the lost twin - it was always a couple of weeks behind and had a really slow heartbeat.
Might sound odd but I feel like I don't dare allow myself to think my remaining twin might be chromosomally normal, like I'll be giving myself a false sense of security if I do...
I'm glad I went to the FMC consultant today - I had been offered a slot with Prof Nicolaides tomorrow but it was a late slot and I hear the day he's in practice you can be hours waiting for your appointment. The lady I saw was great, calm and straightforward, and it was okay. She said I might get the results Thursday night but if not Friday so I will be a bag of jitters by then I expect... X

[CrispyFB]

Yes, yes you can be waiting hours! I saw him with DC3, or rather the agreement was that he'd "pop in" to an appointment I had with a regular doctor. Even with that, I was seen well over an hour late and then when he did come in, he scanned me for all of about five minutes and that was it! He was great though, extremely reassuring and answered all my questions so it was kind of worth it for me. I still quote some of the things he told me on threads here occasionally!

In my case it was worth it because I was "waiting it out" as it was 1 in 34, and I needed that sort of reassurance to get me through the loooong months ahead before my late amnio. If I was going to get some answers in a few days I wouldn't have bothered. So I would have done the same as you to avoid the wait.

[SaggyAndLucy]

Hi.
I was where you are about 18 months ago, and now have an amazing DD with Downs.
Obviously you're hoping for a negative result, so was I, and I really hope you get your wish, but I also wanted to offer a few words of support in the other direction.
I was recently asked to write a blog post for DS Awareness day, aimed at expectant mothers with. DS diagnosis.
I'm crossing my fingers for you and a negative result, but am going to share my post as well in case it helps in any way. X xx
Blog

[Taranta]

Thanks for posting saggy and linking to your blog - your daughter is a cute little bundle and it's particularly heartening to hear how positively your older kids took the news, which must have been an enormous support.
My feeling change day by day, yesterday I felt very tearful, today less so, now I just need to know so we can begin to think about what we might be facing. X

[SaggyAndLucy]

Pregnancy really was the worst part! you're just faced with a whole lot of what ifs and unknowns. Hang in there. X
please pm me if I can help at all, even if you just want a rant or someone non family to cry on. xxx

[london78]

Hi Ladies

Just to add my experience, in case it helps anyone. I a ftm, aged 36. My results on the NHS gave me a 1:10 risk for DS, ES or PS, and were as follows:

NT: 0.9
bHCG: 3.87
PAPP-A: 0.26

We declined the CVS due to the risk of miscarriage (was advised that with a low Papp-a the risk may be elevated to 1:50) and instead opted for the private Harmony at the FMC. Here our risk, based on bloods, was adjusted to 1:5 so even worse. We had made the decision to proceed with the pregnancy if the baby had DS, but have a TFMR for ES or PS.

Our first Harmony test failed (apparently does in 20% of cases, and then only has a 50% success rate for subsequent testing). However we declined the free CVS offered by the FMC and redid the Harmony for free. They gave us a very detailed anomaly scan at 15wks that lasted almost 2hrs to check everything.

These were the hardest 4wks or so of our lives living with the uncertainty of such terrible odds. Second Harmony thankfully worked and results came back low risk (1:10,000).

They suggested I should aim to get to around 28wks pregnant and then they may think about delivering the baby (based on the assumption there would be growth/placenta problems). However, I am currently over 36wks pregnant and still going strong. They offered me extra scans at 28, 32 and 36wks in case of growth or placenta problems, and although baby is on the smaller side of things, they are maintaining their own growth curve (and just inside 'normal' limits) and everything looks healthy and normal still at this stage.

So, even with terrible risk ratios the outcome can be good.

Best of luck!

PS. I had no bleeding in pregnancy nor a multiple pregnancy, so this does not explain my high HCG.

[elio]

My heart goes out to you waiting for results. Just to say that I was given 1:18 by my blood results for downs from a background of 1:980 as I am 29. My bhcg was 4.5 x normal and my pappa was less than half average.

Really wasn't expecting this and feared the worst. Opted for CVS and had my final results yesterday, which were all clear, and it's a girl.

I know my result doesn't influence yours but it helped me to read other peoples stories when I was waiting.

Everything crossed for you. The odds are in your favour, despite what it feels like. X

[Taranta]

Thanks for your stories london and elio they are good to hear. I so hope I am feeling the way you must be elio in twenty four hours time. I am expecting to hear tomorrow now and it's difficult to think of anything else. I veer wildly between thinking the odds are still in my favour to scolding myself for thinking even for a moment it might all be okay. X

[SaggyAndLucy]

The odds are still very much in your favour.
I hope that you get some rest tonight and they call early. xx

[Smitten1981]

I had exactly the same odds after my 12 week scan. I have an 18 month old now and he doesn't have Downs, he's happy and healthy. I remember when I got the negative result that it meant something else was awry but thankfully that wasn't the case. The waiting is the worst part, but as has been said before there's a 93% chance that the baby doesn't have Downs. I know that fact really helped me be a tiny bit positive, but it was still an anxious wait for my CVS results. I hope you get the news you want, thinking back on my time waiting for results still makes me feel quite sad xx

[Taranta]

Hello, well I'm pleased to say I've had good news on the 'fast' results, and will now wait a couple of weeks for the full karotype, but hoping to be in the clear now. Goodness it's been such a long week! Thank you all for posting with your thoughts and positivity, it's been so helpful to know I'm not alone to you all x