Scary 1st Trimester Screening results. Going out of my mind.

[Jessybear90]

Hi ladies,

I've been on here when I was TTC and found the forum full of very positive support.

I had my 12 week scan and the screening results for chromosomal abnormalities came back as "high risk" for Down Syndrome.

Our chance of our baby having DS is 1:85.

As a percentage I know the odds are actually in our favour but are there any ladies out there that have been in a similar situation?

We were offered a non invasive blood test with 99.7% accuracy so basically this would give a yes or no answer. We could be waiting for as long as next week for the results and the wait is destroying me. I'm seriously a mess right now.

The reason we were flagged as "high risk" was because of the bloods. Everything else's including Nuchal Translucency Test was normal. The bloods shows high HCG Beta and low Papp-A.

These are my results:

Nuchal Translucency: 1.81mm (normal)
Crown to rump length: 70.6mm
Free beta HCG: 3.9MoM
PAPP-A: 0.43MoM

Other factors such as my age, I don't smoke and no diabetes didn't effect it and with the NT measuring normal, the 1:85 ratio has come purely from the blood work.

Any advice from anyone in a similar/has been in a similar situation?

I'm not coping very well with the waiting for the results so looking for a bit of support. X

[SilverLinings2014]

Sorry this happened Jessy, I know how upsetting and stressful it is.

I had a 1:25 risk with my first pregnancy; just like you it was because of unusual blood results and everything else was fine. I'd had a bleed between 9-13 weeks and later researched to discover that bleeding can affect bloods enough to cause a false high risk reading.

After 3 years and IVF to get pregnant I couldn't risk an amino and the associated risk of mc so went privately for the Harmony blood test. It was a tough 10 day wait to get confirmation all was fine, so please hang in there

[SeatOfMyPants]

I had slightly better odds, but - like you - I couldn't shake the worry even though I rationally knew the odds were on my side.

What we did was:

Planned for the worst outcome - so we had begun the conversation of what we would do should the baby come back with one of the trisomy results positive. That helped me feel in control. I also wrote down what my worries were with regard to all possible outcomes and what I could do to mitigate those things from happening/having an impact.

Weirdly, writing down the fears I had, helped me both rationalise them and made them less scary. I knew I could cope whatever happened and that, with the worst outcomes, even a termination for medical reason would be manageable (although not at all pleasant) both practically and emotionally through various means.

The fear and anxiety lie in the waiting and the unknown, not what actually happens (as far as I saw it then). So trying to think like that got me through.

We decided to have a CVS privately (this was before so many of the good blood tests were available) because the NHS only offered us an amnio with a 4 week wait for the test (let alone for the results - sonographer also basically told us we'd have to terminate, which didnt help the nerves, terrible terrible person).

Whilst it was a worrying time (10 day wait), we had the advantage of knowing - from 14 weeks that there was absolutely nothing genetically wrong with the baby (they check absolutely everything). This made the rest of the pregnancy a breeze actually.

Good luck with it - the overwhelming likelihood is that everything is absolutely fine. Now, it's about trying to find yourself the best way of managing the anxiety.

[Jessybear90]

Thank you so much lovely ladies. I feel so much better and less alone from even getting a reply.

The biggest problem is that OH wants to terminate if it is DS positive because he thinks it would be kinder on it and on us. I know some people may think that we are monsters but I'm not here to be jugdged and I have to say I do agree with him. Although having said that if it actually came to the crunch I'm still not sure in my mind if I could actually go through with this I'm so undecided. OH understands that for me it is different because I already have a connection with the baby that he will never have. We did speak about this before we even tried and I knew his views then but never really took it seriously because I never in my wildest dreams thought it would happen to me.

I do understand and do not dispute that people with DS do and can have a normal life but I with OH he has been bullied his entire life even into his adult life based on his looks and at times admitted that he wanted to die and he said if that happened to his child he couldn't cope and wouldn't want that. Other than that he is actually being so supportive right now.

It's all so hard but as you said it's the waiting that's crushing. As I said in terms of terminating I am completely undecided because it seems either way we lose.

I've been trying to keep busy as much as I can but it's hard. I will keep you all updated as to the results.

As for a bleed effecting it...well my periods are regular like clockwork since day 1 I started and I give the midwife my dates and worked out my due date from there. When I got to my scan they put me a week in front and said I must have my period dates wrong however I did know I know that for a fact, I was tracking them and have it all written down so it is possible I had a bleed in very early pregnancy that I thought was my normal period.

Can't believe how all this has come about just because of my bloods. Everything else looks perfect.

So scared x

[harleysmammy]

When my parents were pregnant with me, they were "older parents" and the result came back as 1:15 for me having Down syndrome. The last thing they wanted to do was have the amino because of the risk of miscarriage and they had lost 13 before I was born, but they decided to have it and even that came back that I would have downs. They prepared themselves for having a Down syndrome child and I'm totally normal. They aren't always right:)

[DappledThings]

Hi, with DS we had a risk of 1:92. I can't remember any of the other factors but the nuchal translucency was high at 2.9.

We had the Harmony test which I assume is what you've also been offered and it came back at 1:10,000. From what I remember there are only two outcomes from harmony, 1:10,000 or 1:5 in which case you will be offered an invasive test. For me age was also a factor as I was 36.

We were fortunate that the Harmony test was free at our hospital and the results came really quickly, as far as I remember we had it on a Monday and had the result by the Friday so you might not have to wait too long.

Best of luck

[MollyoftheFolly]

I have had two high risk pregnancies. There is a charity called Arc (antenatal results and choices) who have a helpline when you have had high risk results. They are very knowledgeable and you may find it reassuring talking to them about your anxieties and feelings. I had the Harmony blood test in March and results took exactly a calendar week to get back to me, I know that wait feels impossible.

[Jessybear90]

Thanks lovely people. We had a new test called the "Iona test" which is a non invasive test. This is not yet available on the NHS we paid £300 for this and it's basically a blood test. The test results are 99.7% accurate but the midwife said that if the results came back as positive then she would still recommend the invasive test (amino is this called?)

I understand if people think we are monsters for even considering a termination however I respect that my OH has his opinions and hasn't had an easy life at all and I think going on that he just doesn't want that life. He also works away constantly and I have no family around, nearest family is 350 miles away so he is envisioning me having to do most of this on my own with a DS baby and he was worried about that too. He says why put ourselves through that when we have the choice and also have a chance to go on and have a healthy one later in life and I have to agree with that. That being said I am still very undecided on termination and I care and love this baby very very deeply.

I will keep posting because it may be interesting to others to read.

Like I said it's all in the dodgy bloods that came back. nuchal Translucency was fine and normal x

[SeatOfMyPants]

It's your decision. You decide what's right for your family. No one else should or can judge you.

But absolutely the overwhelming likelihood is that it will be fine. Take care of yourself and give yourself a big break.

[Jessybear90]

Thanks seatofmypants that's what everyone was saying like my mum is like why are you worried? It's just a statistic at the moment.

Must admit this has changed my whole outlook on life and perspective on things as whole. Wouldn't wish this feeling on my worst enemy or anyone in the world for that matter. I'll keep you updated as much as I can because I'm sure I'm not the only one out there with these statistics and I'm sure there are others worse off too. I'll find out as much medical info as possible and report back. Even if we get the all clear I want to know if they can find out a reason why my bloods are off x

[123456kent]

We have just been through this in the past week, after abnormalities with the heart were discovered at routine 22 week scan. My odds were much worse than yours, and we opted for Panorama test (privately) rather than amnio. Pleased to say after the worst 7 days of waiting, it was sheer hell, all is ok at 1 in 10,000. My results have no bearing on yours I understand that but I just wanted to say I completely understand the agony you are going through and whatever decision you make re amnio, termination (god forbid the unlikely event it comes to that decision), etc etc does not make you a monster in any way, go with whatever your gut tells you and that will be right. Keep away from Google. And, most likely, everything will be totally fine, the odds sound scary but in reality are still in your favour, but at this point I understand only your final result will get rid of the cloud over you right now xx

[Jessybear90]

Thanks for your words Kent, it's lovely to hear others positive stories. I've restricted myself to this website only because I feel it's very supportive. I was on Google all day yesterday and drove myself to despair so I have stopped all that now and just tried to keep myself busy. I'm so scared right now and the pain is almost a physical feeling. I hope this week flies x

[rubyfeet]

Hi

I know several people who got 1 in 200 and another 1 in 6

Both had harmony test- got 1 in 10,000 and 1 in 36,000 respectively.

If you think you are crapping it, imagine how the friend who got 1 in 6.

It's hardly reassuring though and I can understand you are really worried. The waiting is horrendous. Truth us that there's people who get 1 in 5000 with the NHS test which seems good odds and then they still have a baby with down syndrome.

I've worried and thought about things a lot and then I read a post that made a lot of sense to me. Life throws all sorts at you, you may lose a baby, you may have a baby with down syndrome. Then again you may have a perfectly healthy baby that gets an illness and dies when they are little or your teenager may die when they are 16.

I think my boyfriend repeated something similar when I was worried about down syndrome etc.

Life throws all these things at you- no point worrying about what may be- you will deal with it as it comes along.

Good Luck- really hope the results are good for you

[londonista]

I so feel for you. I was higher risk and happy to let the dice fall where they may but my husband was in bits over it and didn't want to proceed with a pregnancy where he had to watch his baby die when it was born.
So I had the CVS.
And here is that beautiful boy now.
I still feel sick at the idea that I might have lost him in that moment but I try not to think on it too much.

Wish I'd been offered a blood test!

[rubyfeet]

Jessybear from what I hear the NHS only recommend the amnio as they will not terminate from the stats from the blood test and will only terminate if amnio confirms.

I don't think you need to think about this- your nuchal translucency was good- bet your odds change drastically

[HumpHumpWhale]

I think my result was 1:73. Had the harmony blood test (similar, non-invasive) & result was 1:10000. DD doesn't have down's. It was a truly awful ten day wait, though. Grim. Especially as DH would have wanted to terminate and I wouldn't. I actually fear we might have ended up divorced. But all fine in the end!

[Jessybear90]

I'm currently on day three of waiting. The bloods were done on Monday and and she said they may have got there yesterday but most likely they will get there today. The shortest wait is three days (three to five working days) so I'm praying we get them on Friday.

This test is quite new. It's called "Iona" I it's sounds simular to the Harmony one. We had to pay but the nurse told us within time this will be done on the NHS for free x

[grobagsforever]

Hi OP

I can offer you some reassurance I hope. DD2 was 1/15, based on bloods, not nuchal fold or age (I was 33). We did CVS. Results came back clear and DD2 is perfectly healthy. I did A LOT of research at the time and found hat high risk based on bloods is very unreliable and is it likely the NHS will do away with this test in the future.

My NCT friend has an almost identical story with 1/70 risk.

You'll be fine. Hang in there.

[grobagsforever]

Your bloods look v similar to mine, but DD has 2.1 NUchal fold.

[SilverLinings2014]

I researched IONA OP and would have gone with it but nowhere in my area offered it, and I didn't fancy a trip to Manchester or London.

Because the sample is tested in UK rather than US results are much quicker. Hopefully you'll know by Friday.

[Jessybear90]

Thank you for replies.

We didn't have to travel for ours, they did it there and then sat the hospital after my scan and the results get sent to a lab (not sure where) and they come back to the hospital.

Grobagsforever what was the outcome? Or are you still going through it?

[Jessybear90]

Grobags sorry I just realised you already did put the outcome there.

I was very confused by the bloods to be honest because everything else on the test was in my favour, normal Nuchal Translucency, I'm 26, don't smoke, no diabetes so it really knocked the life out of me to be told the risk for DS went from 1:1200 to 1:85 purely based on my blood work. Made me think the worse and that even if the DS result was cleared it still leaves the question: what is exactly wrong with my bloods? I have been able to find no answer to this all I know it's it's not "normal" very frustrating.

I have suffered with iron defficency anaemia in the past as well which was medicated.

I know that I ask for this test (kind of regret it now) but that result from bloods alone, well safe to say the NHS has scared the life out of me. X

[grobagsforever]

There is nothing wrong with your blood. Sometimes HCG levels are just very high! I was sick as hell with DD2 so wasn't surprised to be told my levels were sky high.

As for the papa A - mine were lower than yours so I had extra monitoring for growth. In addition to this I was subjected to the worst possible stress in the last 8 weeks of pregnancy and could hardly eat. You know what? DD2 was just under eight pounds. So is incredibly healthy and bright, more so than DD1 who had a normal pregnancy.

The bloods inflating your risk is a statistical anomaly - if you're mathematically inclined google the article - Dave Wright is the author. You're DC will be absolutely fine.

[grobagsforever]

Your not you're

[SilverLinings2014]

The IONA lab is in Manchester OP.

Completely understand regretting agreeing to the NHS screen. It's such a horrible time waiting for the results. Despite our low risk harmony result, DD was whisked away from me several times after birth so they could check her out because of the 1:25 NHS result. I'm now pregnant again and declined the NHS screen for this reason.