12 week nuchal scan and blood tests shown 'high risk' of Down's

[EmmalinaC]

I'm new to mumsnet but I'd really appreciate hearing about anyone else's experiences of this...

I'm 36 and had 12 week scan on Friday. The combined results of blood tests and nuchal scan showed a risk of 1:169. This sounds like pretty good odds to me but the sonographer told me this was considered to be high risk.

She wasn't able to provide much explanation but encouraged us to book a CVS test as soon as possible. She seemed pretty keen to get rid of us.

We've spent the weekend worrying and have just called the hospital again who have made an appointment with a consultant for tomorrow morning.

We've also booked a private scan at the fetal medicine centre to get a bit more information before we decide about invasive tests.

Just wondered if anyone else was given a similar risk, and what they did about it?

Thanks

All best for this afternoon.
I had CVS at FMC last month with the Professor and it went fine. It was over in a matter of 2 mins. He's done it so many times you're in good hands. Afterwards, it feels tender for 2-3 days and I had a bruise in the area where the needle went in but that was it.You'll get the results over the phone by Friday.
My risk was 1/33 but the baby turned out to be fine. The nuchal had been fine but the blood & a leaky tricuspid valve tipped the scales to a high risk. I now know that in 85% of cases the leaky tricuspid valve is sth that resolves itself but at the time (and it's my first) it felt like a huge thing.
It's a horrible time so I hope it goes well for you

Anything new??
xoxox

Results due by 5pm tomorrow. We're trying to be optimnistic but are frankly terrified... But thanks for asking! x

Good, let us know. It will be fine!!!! Just think of everyone thinking of you and holding your hand.
Much love to you. The wait is terrible. I remember. Worst, worst week of our lives.
LUCK!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

If I have the time difference right (8 hours I think??) it should be around 5 pm over there - have you heard anything yet? Thinking of you!!!!!
xxxxxxxxxxxxxxxxxxxxxxxxx

We got the all clear - they kept us waiting for the news until nearly 6 which was unbelievably stressful but we're so relieved - and as a bonus we discovered it's another girl!

Now, at last, I can start to enjoy this pregnancy!

Thanks so much for your support.

xxx

OH OH OH I AM SO HAPPY FOR YOU!!!!!!!!!!!!!!!!!!!!!!! I have been thinking about you and stressing and I'm so relieved for you - the waiting is horrible isn't it but am so glad all is well!!
xxxxxxxxxxxxxxxxxx

Fantastic news - I am so happy for you.

Hiya,

I'm new to this site, but wanted to offer my experience - which was an emotional rollercoaster to say the least.

We went for our combined scan on Monday (when i was 13 wks) expecting to come away with photos and finally be able to tell everyone. However we came away as being classified as "high risk" - a 1:163 risk. I'm 29 BTW.

We naturally freaked out,shed a LOT of tears and could not sleep. We booked in straight away for a CVS on the Wednesday. This didnt happen, however, as the placenta was in the wrong position and it was considered too risky and were booked in for a weeks time. Our hearts sank.

We then went to the FMC and had all our readings done again and they were TOTALLY different - different NT and my bloods had completely changed (HCG lower and papp-a higher), our end result came out at 1:5300.

My advice: I know it's expensive (£150) but it is so worth going to the FMC.

We went there ready to have a CVS and I was convinced it would be bad news, but have come away so relieved and happier than ever.

I had my nuchal scan Friday and was told i was high risk as the measurement was 3.6! I was totally devasted and couldn't stop crying. They couldn't take my blood twice as they couldn't find a vein so had to go to hospital and they got there blood 1st time. I've had a horrid weekend and should find out from blood test result tomorrow. My 1st child is fine (perfect in fact). I feel so sad and fake at the moment. Bit difficult to hide bump to as its massive already, and im only 13 weeks. Im so scared, my son has no idea whats going on and he's so excited about the baby

I know this has been done over and over again but I know you ladies are there to offer a reassuring word when it's needed.

I just got a risk of 1 in 60 for DS from a Nuchal Scan/Blood tests.

I am in the US and there has been a slight palaver about it as I have been out of the country/my bloods got lost/ nobody called to tell me the result/ had to chase them myself and then the person nominated to call me with the "bad news" didn't understand the results anyhow and called me to say I had tested "positive for Down's" (which is nonsense cos it's a risk assessment anyhow)

So here's what I've been told.
My basic risk due to age is 1 in 120
PAPP A was on the low side of normal at 0.33 multiples of the mean
HCG normal at 0.99 multiples of the mean
The Nuchal Translucency is 1.4 -again normal

-so the calculated risk is 1 in 60.

I am a doctor myself ( although not an obstetrician) so thought I had some clue how to interpret the test.

However, I have a few things I'm not sure about
If my basic risk by age is 1 in 120 then I'm high risk by definition and so why wasn't I offered amnio/CVS in the first place (I'm 36 so not sooo old)?
I had this test done on my first pregnancy and the risk came out as 1 in 10,000 but they did AFP then. I had understood they did AFP this time too but not so. So without the AFP the test is less sensitive isn't it.

I was told that I could not have the test until 12 weeks and it took 2 weeks for the results to come back (they lost my bloods and had to be done again....). Now they tell me I can't have CVS after 12 weeks - doesn't make sense does it???

And I thought the US system was supossed to be fabulous compared to the NHS/Irish system (had DS1 in Ireland)

I am finding the american medics difficult to deal with as they called me with the risk of one in 60 without offering a breakdown of the results and also they got really snotty with me when I asked for more info.

Luckily no bump yet so nobody suspects anything but will have to break the news to my boss if I need time off to get these tests done. I really am dreading that because I will definitely break down if I have to say out loud that there is a potential problem. (I haven't told DH yet... I wanted to get all the information first but will tell him when he gets home from work)

Sorry for rambling. I am in total shock and not due to see the obstetrician till Friday. All my medical training goes out the window when it's about me or anyone in my family.I am a total mess.

Chased the blood tests along along today and got my answer... My blood is brilliant and I am now low risk!

I have to have a detailed scan in about 2 weeks to check on why my nuchal fold was high.

I am so relieved and can finally wipe my tears away. I can finally enjoy my pregnancy with my husband and lil boy xx

Hiya
Im new to this but just wanted to add my experience... I am 38 and 12 weeks pregnant, just came back from my 12 week scan very confused and worried. The nural fluid was 3.9mm which i was told at first was borderline by the lady who did the scan but then a lady who I presume was a midwife/councillor told me this was a high risk result. The reason I am confused is because I was told they wouldnt measure the nural fluid on this scan and I would have a blood test which would tell me if I was high or low risk, the midwife did say the hospital was starting a different style of testing from the 2nd december but I hadnt had this?? I havent been offered a blood test just the invasive tests and to me the way she was explaining things it all seemed like doom and gloom. My question is because they have noticed the fluid on the scan is this more serious then getting a high risk result from a blood test? Has anyone else had this experience? Thanks x

Crystalrach, there is a thread under mumsnet, talk, pregnancy and antenatal tests and choices. I suggest you have a look through some of the threads there as there of lots of us who have been in a similar situation. 3.9mm at 12 weeks for a nuchal is considered high- anything below 2.5 is considered normal and anything above 3.5 is normally considered high risk in itself without any further blood tests. What they normally offer is the combined test which is a nuchal and blood tests on the same day. The blood tests measure your hcg levels and papp a. Combined with the nuchal and your age, this gives you a combined probability. Like you we had a nuchal of 4mm which although they also did the blood tests, meant an automatic referral for invasive testing. Bear in mind though that the cvs or amnio carries risks and therefore we were offered the blood tests to ensure we knew exactly what the probabilities were before deciding to go ahead with the cvs. It's not all doom and gloom by any means, there are lots of people who get a worrying probability and are fine- ours was 1 in 4. If you look at the threads mentioned earlier, you will see lots of positive stories. It is just a probability and not a diagnosis. The nuchal may be an indicator that there could be a chromosome or heart issue with the baby but in lots of cases it is nothing. They should be giving you all the relevant information though so you can make informed decisions.

I refused the nuchal fold test as I couldn't see the point in worrying about it as I wouldn't do anything about it anyway. I certainly wouldn't have risked my pregnancy with the invasive tests. I was treated like a freak, I have to say, by my midwife and GP. The GP referred me to a consultant, who, when I explained my reasons, said he thought I was being sensible.

wannabeglam that's pretty awful that your MW and GP couldn't get their heads about why you didn't want the tests. I also chose not to have them (though didn't discuss it with my MW or GP beforehand, just walked into the scan and told my sonographer I didn't want them) and it was fine. The sonographer I had was really good, she said she thought the nuchal looked normal anyway, and that if she noticed anything non-normal enough for her to suggest I rethink the DS testing, she would say so.

Though I had to tell the receptionist at the hospital twice that I wasn't getting bloods that day as she looked at me like I was from outer space. But was very glad that the sonographer respected my decision without a blink. If MW and/or GP give me any grief about it at my next checkup, I will let them have it. From the threads I've read on here, bullying people into having the tests seems to be the order of the day . And why exactly? Because they can? Not a good enough reason to go through invasive and stressful testing imo.

Mildwest's post on page 1 of this thread should be required reading for all parents-to-be. Great post.

Barelyutterly, I have to say that was completely opposite to our experience. We had the nuchal scan and chose to have this and were immediately told that the nt was 4mm. Because of this, we were an automatic referral for a cvs without waiting for the blood results also. At the time, we had agreed that we didn't want a cvs even if the nt results were not good. The sonographer totally respected our choice but we agreed to have the bloods and a referral to kings hospital for a more detailed scan, which could highlight any problems with the baby and have a look at the heart. If we didn't want to go ahead with the cvs we wouldn't have to but we would have more information on which to base the decision. As it turns out, our initial 1 in 7 chance dropped to 1 in 4 with the bloods and then the detailed scan showed a soft marker and an increased nt to 5mm. Based on this information and to be honest agonizing with the decision, we decided to go ahead with the cvs. Luckily we have come back clear for the chromosome results and have had an early clear cardiac scan. It's great that you feel so sure that you know you didn't want the scans. Faced with the reality of the situation, we opted to have as much information as possible on which to base the decisions and we don't regret having the testing done. I do know that it is an awful situation for anyone be in.

Hi Emmalinac,

My dd is 9yrs old and has ds, i was 26 when she was born my risk factor was low, we wasn't aware she had ds until she was born, i had lots of information given, advise etc, but all you need to do is treat your ds/dd as a baby, just like any other baby, they don't do anything different, and want feeding/changing and loving etc,until a few months down the line where by you start and build up muscle tone. i was told she wouldn't breast feed because of her low muscle tone, but i wanted to cause its best for baby & mum, so she did for 10 mths which i am so proud, i had a good midwife who listened and helped me. her heart was checked and was ok no heart defects which we were so relieved to find out. 16 mths later we had a ds we did no checks for him as we had discussed and made a decision, we wouldn't terminate our pregnancy if he was or wasn't and don't want to lose our baby by doing the checks even though we had a dd with ds our risks that we would have a child with ds had doubled. he was born without ds, i am now 36 and am expecting our 3rd and even though i have increased risks yet again with my age plus my risk factor is doubled because of dd having ds, we still haven't gone for the test because we love and want all our babies, that's our decision.
my dd has gone through mainstream school, and we are now looking at mainstream high school as you look a year prior to when everyone else does. what does your gut feeling tell you and would you beable to live with any of the actions you do or don't take! hope you make the right decision for you. take care x

barelyutterly I couldn't agree with you more, mildwest's post (particularly the last paragraph) contai ns some very wise words.

wannabeglam and barelyutterly I take my hat off to you both, I wish I'd had the balls to refuse these tests when I was pg the first time. Our results came back with a 1 in 74 risk of ds and after lots of soul-searching we had an amnio. My instinct told me not to do it and that it wasn't necessary but I allowed myself to be talked into it.

We paid to get the results in 48 hrs and they came back all clear. 4 days later I was in hospital as i'd lost all my amniotic fluid and when it became obvious that I wasn't going to recuperate the fluid I was induced and had to hive birth to my son knowing he wouldn't survive.

It was the worst thing I have ever lived through and came from a decision I'll regret for the rest of my life. It's true that the risk of losing a baby after an amnio is small but it does exist and I would urge anyone considering an amnio to think carefully before having one. I would hate anyone else to have to go through what I went through.

Margie I am so, so sorry for the loss of your son in those circumstances, it is utterly heartbreaking. Your story has re-emphasised to me that I have made the right decision in declining invasive testing (I was 1 in 60 or 1 in 34 depending on which of the two NT screens I had!) and I am currently 17 weeks and waiting it out. I flip-flopped around for quite a few weeks before settling on not doing it especially as we wouldn't terminate for T21.

They say the risks are tiny and of course they are which is why you, and everyone else who does it chooses to do it, but that means sod all if you are the one in question. I can't even begin to imagine how you must feel.

I have heard of a maternal blood test that is being developed that should become available in around five years time that can definitively spot chromosomal issues from as early as 7 weeks. A blessed end to "screen positive" and the horrific decision over invasive testing. Roll on that day.. although my childbearing years will probably be past by then!

We signed to allow bloods and some of our sample to be used to develop this test when we had the cvs. I just hope it means no one in the future has to suffer what you went through Margie. My heart goes out to you.