Hold my hand - been told I'm high risk for Down's syndrome

(66 Posts)
PenguinsDontEatPancakes Mon 04-Nov-13 13:05:46

Got told today that my combined NT and bloods have come back as 1/100 for the risk of Down's syndrome. I honestly don't know what we would do if it was confirmed (this is DC3 and not had to confront this before), but I know that I can't spend the next six months tying myself in knots about it and so I'm going in for an amnio at the end of the week.

Please could some nice people on here hold my hand? It sounds trivial, but I also really want someone to reassure me about the procedure itself. I am a really nervous patient and already feel scared!

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Writerwannabe83 Mon 04-Nov-13 13:14:50

Hi there, sorry you are going through this. Don't forget though that your statistic means there is a 99% chance your baby wont have Downs Syndrome and that figure is really positive. Me and my husband had decided prior to the combined pregnancy we would definitely have the amino if my results came back as high risk. We also both knew that we would likely have terminated the pregnancy should the results have come back a definite positive.

Have you discussed what you would do in these circumstances? I know some women say that if they know they wouldn't terminate then they wouldn't have the test as the results would have no bearing.

PenguinsDontEatPancakes Mon 04-Nov-13 13:19:48

Yes, I'm focusing on that. If anywhere else someone told me "There's a 99% chance everything is fine" I'd think that was quite good. It's the uncertainty. This is a surprise pregnancy and most definitely my last child. I can't spend the next 6 months worrying about it.

On termination, we only found out about the results this morning and I think we are both uncertain. I think termination would be something we would both have to give careful consideration - not a definite yes or a definite no IYSWIM. I don't feel I can really do it in the abstract though. I find it hard to think about 'what ifs' at the best of times.

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EagleRay Mon 04-Nov-13 13:39:11

Hi Penguins - so sorry you've got this worry hanging over you. Been there myself just over a year ago and amnio showed everything was fine (we agonised over whether to go ahead or not, but in the end it was the right decision for us).

A couple of things that might possibly help:

Have you looked into Harmony testing? Lots of info on it on threads on the Antenatal Tests and Choices section - it's non-invasive testing (I would have gone for this but it wasn't yet available when I was found to be high risk).

The ARC helpline are very good too if you need to talk things through

As for the amnio procedure itself, I only went ahead with it after lengthy discussions with the consultants. It didn't hurt and no real aftereffects. I did stay in bed for the rest of the day, but this isn't really necessary. And we got the preliminary all-clear the following day (the hospital staff were very kind and made sure we had the results on the friday night rather than having to wait all weekend)

Good luck, and please let me know if you need any more info x

Londongirl84 Mon 04-Nov-13 13:57:28

Thinking of you. I just want you to know that my cousin got a 1 in 10 chance with both her pregnancies yet her 2 children are absolutely fine. Fingers crossed for you but I have a good strong feeling it will be fine x

Wilberforce2 Mon 04-Nov-13 14:22:37

Sorry you are going through this.. Just to try and make you feel a tiny bit better my friend has had two children the first having a 1 in 8 chance of DS and the second 1 in 4 but both of them were born completely healthy x

PenguinsDontEatPancakes Mon 04-Nov-13 18:06:26

Thank you everyone. Especially to Eagle for sharing your experience.

I briefly looked into Harmony, but as I understand it it is still a statistical test. And it was my bloods that resulted in this risk (the NT measurement was totally normal), so irrationally I feel that there is more uncertainty in a blood based test (yes, I know this is nuts).

I am glad you said it wasn't painful. I am very strong in some ways, but rubbish with any form of medical procedure. I am terrified I will get the shakes and make the procedure difficult for them. Really lovely to hear that they rushed the results through for you. I am not holding my breath, but that would be lovely.

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CrispyFB Mon 04-Nov-13 19:01:38

Harmony IS statistical, but it's a 1 in 10,000 chance of a false negative. That's good enough for the doctors at the Fetal Medicine Centre in London who are at the forefront of research in that area. It's not like NT screening which looks at hormonal markers and the NT fold, all of which can be outside textbook for completely benign reasons. It actually looks at the free floating fetal DNA in your blood.

If you'd had 1 in 10,000 for your NT screening, would you have been happy? If not then of course consider an amnio if you absolutely have to know beyond a doubt, as 1 in 10,000 is the best Harmony will give you. The ONLY other result it can give besides 1 in 10,000 is 1 in 2, which means baby probably has Down Syndrome (an amnio is then recommended for confirmation) - there are no other results in between. High risk, or low risk, that's it, unlike the NT screening which gives you all those numbers.

Even an amnio is prone to errors in results, mostly human errors as opposed to the method being dubious, but errors nonetheless. It's very rare though, but then so is a false negative with Harmony.

I had a 1 in 5 result at my NT screening and Harmony says I am low risk. I'm trusting Harmony's result as does the FMC where I had it, but I appreciate not everybody will. Last pregnancy I was 1 in 34, non-invasive testing was not available then, and I did not want to risk the baby so I waited it out, baby has typical chromosomes. It is rare, but I have seen friends (plus many more on forums) lose babies to amnio and CVS and I could not live with the guilt myself - but it's an extremely personal choice based on your own tolerance of risk/conscience. I am very grateful for the new non invasive options we have now and they will save a lot of lives as most people and doctors are happy with the results they give.

Good luck with your decision! As others have said, 99% chance of a healthy baby.. that's far far better odds than making it out the first trimester (75-80%) which you've already done!

PenguinsDontEatPancakes Mon 04-Nov-13 19:25:30

I've looked at Harmony in more detail, but at this stage it definitely isn't for me. I will already be 15 weeks when the amnio is performed (in a few days). Looking at the websites they are saying two weeks for results. I really don't want to be 17 weeks + by the time we get results and have to make a potentially difficult decision. With the amino, I can know in 3 working days. If I had been given this news at 12 weeks, I would probably feel differently.

Ironically, when I had DD1 they didn't do bloods on people my age. Had that still been the case (and I understand my old area still don't routinely do them) I wouldn't have come out as high risk at the NT measurement is normal. So maybe I've had these bloods once before. On the other hand, we had bloods for DD2 privately, and those were very low.

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RoadToTuapeka Mon 04-Nov-13 19:37:58

Hi there, another hand to hold here. My first pregnancy gave a blood test result of 1:60 for downs probability. I was further along than I thought so the NT test couldn't be done. I had amnio too. For me the procedure was pretty much painless and DH had the hardest time as he could see where the needle was going and where the baby was whereas I couldn't.

Rest rest rest afterwards and do not do much physical activity for a week. We chose to lose flights to Croatia with family and go a week later as I didn't want to risk anything after the procedure.

As others say, the chances are you will get a good result but I know what it's like worrying. Thinking of you.

NovemberAli Mon 04-Nov-13 20:11:00

I had 1:45 risk with DC2, had CVS as was early enough. Procedure itself was a little uncomfortable, but not painful, had quite strong period-like pains the next day but had been warned to expect that so wasn't too worried. At our hospital they try to get you the results in 24 hrs which was great. They check the baby's heart beat directly after the procedure and, if everything is okay then, the risk of miscarriage comes right down. Wishing you all the best OP

Rosduk Tue 05-Nov-13 07:07:38

Hiya, I had a 1:10 chance and after a cvs all cane back fine!

The CVS was as others have said just a little uncomfortable and I had no pains afterwards although I did rest.

Good luck!

kd73 Tue 05-Nov-13 07:15:00

I was 1:121 risk, decided to wait it out and son was and is fine:-) although I met a little boy recently with downs syndrome and I couldn't tell :-)

Hobbes8 Tue 05-Nov-13 07:23:29

I hope everything works out for you. I had similar risk in my first pregnancy and had a CVS which came back fine. The procedure is uncomfortable, but just a little bit crampy really. They warned me that I may feel cramps for a few days afterwards but I didn't really, and I took it easy for a couple of days but I felt normal.

The result was negative and my little boy is 2 now and absolutely fine. However the hospital that did my CVS (queen Charlotte in London) recommended growth scans due to my hormone levels. I had these at 28, 32 and 36 weeks, and at the last one they decided to induce me because they weren't happy with the growth. It was a bit of a shock at the time, but absolutely fine in the end and I was grateful for the extra care they took with my pregnancy.

Good luck.

PenguinsDontEatPancakes Tue 05-Nov-13 12:35:20

Thanks for all the comments. One of the reasons that I'm not having the procedure until Thursday is that I can hopefully rest more as DH will be around. Sadly though, a week of rest is unlikely for a SAHM with two children, one of whom needs the school run. I think I'll just have to do my best.

Hobbes - Do you know what it was about your hormone levels that made them worry about growth? Glad to hear that everything was ok for you, and everyone else.

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SaggyOldClothCatPuss Tue 05-Nov-13 12:42:03

1 in 100 is still good odds. I know how you are feeling though, I was there a few weeks ago. It doesn't matter how many people tell you this, you still get that feeling of impending doom! sad
I couldn't afford the harmony test, so went straight for CVS. It really wasn't anything to worry about, I promise. A small prick of local anaesthetic and a but of a tugging feeling. Ive had nastier vaccinations. My only advice is don't look! wink
The medics were all lovely and they talked me through everything. I felt a little achy for a day or two, but nothing scary.
Have a {{{hug}}} and a hand hold. Time will pass and this will be behind you before you know it. It all seems like such a nightmare right now, but its just because its all so sudden. Take care of yourself and try not to worry. xx

PenguinsDontEatPancakes Tue 05-Nov-13 12:50:07

Thanks Saggy. I think part of my problem is that this was an unplanned pregnancy that I have found hard to get my head around. After the shock of the pregnancy, then being much sicker this time round, then this. I am starting to feel it is some form of cosmic sign that none of this should be happening (I promise I am not as woo as it sounds. Just how your mind races in this type of situation).

I am glad people have said that the procedure is ok. My biggest fear (aside from the result) is that at my scan I had an anterior placenta and they have warned me that they might not be able to safely get to the amniotic fluid. I think I'll go crazy if they send me away for a week or two.

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EagleRay Tue 05-Nov-13 12:51:28

Don't worry too much about the resting - I was advised that it was desirable rather than necessary. The consultant said that if I wanted to go hiking or whatever immediately afterwards it probably wouldn't make any difference, but if it was him having the procedure he would put his feet up and watch the cricket for the rest of the day.

When I had the call to say I was high risk, I then discovered a couple of hours later than my dad was terminally ill. He lives a long distance away and it was really difficult to make arrangements to get to see him as I had the amnio appointment hanging over me (opted for cvs initially, but this was changed to a later amnio as placenta positioning made amnio a safer option). Anyway, we ended up having to do the journey to visit my dad the day after the amnio. It wasn't desperately challenging physically, but was a 1,000 mile round trip by car and an incredibly stressful couple of days. Luckily, just as we arrived at the hospital where he was staying, I had the phone call to say the preliminary results were clear (this is why they had rushed them through as I couldn't cope with that uncertainty plus the massive stress of saying a final goodbye to my dad at the same time)

Sorry - bit of a long story there. Anyway, the gist of it is that it's good to rest, but circumstances/life often don't allow this!

PenguinsDontEatPancakes Tue 05-Nov-13 12:53:54

Oh Eagle - so sorry to hear about your dad and everything you had to cope with at once. It must have been indescribably stressful and upsetting.

Thank you for taking the time to be reassuring about the resting. I can rest for the day, it's more the day after that gets tricky...

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SaggyOldClothCatPuss Tue 05-Nov-13 12:54:57

Don't panic. I have an anterior placenta. I was originally booked for amnio, but was right at the date threshold and the membranes? weren't quite fused as they need to be. They just did a CVS. They were quite happy, as the placenta was right there and very convenient. It was done on a Thursday, and the results were back Monday afternoon. Its quicker if there isn't a weekend in the middle.

PenguinsDontEatPancakes Tue 05-Nov-13 12:59:04

Thanks Saggy. I've been told I'm too far on for CVS. At my 12 week scan I measured 13 weeks. Then it took two weeks to call me. But we were away so it was a week before I spoke to them (they didn't leave a message - which I'm kind of glad about as it would have wrecked the holiday) so by their dates I'm already past 16 weeks (though I disagree and think I'm nearly 15).

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BalloonSlayer Tue 05-Nov-13 13:01:30

How old are you, Penguins ?

These tests take your age into account and although I had a "good" Nuchal scan result (they didn't do the bloods one in my area) my risk was still 1:88. It's done on age at delivery, which in my case was 43. I was told that I couldn't have got a much better result.

SaggyOldClothCatPuss Tue 05-Nov-13 13:02:22

Who told you that? I was told the same, but when I got to UCHL they said they can do CVS at any time really. There is apparently a very slightly higher risk of CVS needing to be repeated, but it is very slim. Where are you having the procedure done?

PenguinsDontEatPancakes Tue 05-Nov-13 13:03:38

I'll be 35 at delivery. So the 1/100 is high for my age. I realise my background risk would be higher than when I had DD1 at 30, but both previous times it was in the 1000's.

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Decameron Tue 05-Nov-13 13:03:57

Penguin, my risk was 5 in 100 with DD1 (who is now 5). I had the amnio at 16 weeks. It was fine, not painful but I also recommend not looking when the needle goes in. It gave us great peace of mind when we got the results (which were clear) afterwards. We didn't know what we would do but we wanted to know the result either way as soon as possible. My husband was more nervous than I and made me stay in bed the rest of the day. Best of luck to you.

Sorry about your father, Eagle.

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