7.4mm NT scan / 1:5 Downs risk...

[mrsbigz]

Hi,

I posted on Thursday on the main pg board as i'd had my NT scan, and then followed it up with an appointment yesterday at the prenatal diagnostic centre. the NT fold measurement was still the same and the risk factor for Downs (after my bloods were taken into account) was 1 in 5!

Still in a bit of shock and just needed some advice from btdt mums! we have an appointment on the 21st at the prenatal place, for a possible amnio (i'm still undecided but i THINK i need to know so i'm fully prepared). also have a cardioscan arranged for the 25th in Oxford - so that's gonna be a busy week!!

i know by flipping the risk factor then i have an 80% chance of having a baby without Downs, but the other chromosomal abnormalities (more serious) such as Edwards and Turners bounce into my mind and i worry all over again.

can anyone offer any advice. :(

Hi

I didn't want your post to go unanswered and I hope I can offer some reassurance...

I had a NT of 4.6mm which is higher than most, though obviously not as high as yours. Bad bloods as well meant 1 in 3 for Down's but low risk for the other two main trisomies.

I dedcided not to have an amnio as I would have carried on anyway (I had an epiphany after reading the Down's website and looking at some of the pics of the children and reading their stories).

But - DH really wanted to know so I did have an amnio at 16 weeks for his benefit really - and it came back clear for all 23 chromosomes. I was very surprised!

I have had lots of scans including specialist heart scan and so far no other issues have arisen (apart from borderline ventricularmeglaly which may or may not be related). I am 30 weeks today so fingers crossed and hope he comes out fine!

What were your risks for the other trisomies?

Have you tried arc? They were really nice just to have a chat to someone knowledgeable and understanding was really good.

How is your DP coping?

Hi FL,

thank you SO much for your reply and congrats on your pregnancy!!!!! i'm not sure what my risks were for the other trisomies, they only mentioned the Downs risk - should they have told me?

I haven't yet spoken to ARC but am planning to - just i've been at work and not had the opportunity as they're open working hours - but i work from home thurs and friday and plan on ringing them then.

i have my amnio booked in for the 21st march - if this had been our first pg we would have not done it, but we have 2 boys and need to be prepared. especially as my second son was born 9 weeks early - which is another high risk factor for me this time around, so any information is needed!!! i had a phone call today from oxford and my cardioscan is booked in for the 25th march - so that's going to be a busy (and prob quite emotional) week for us.

DH is coping well in that he's being a great support to me - i think he's sad and scared like i am but isn't showing it as he's trying to be there for me and be the 'strong one'. i think we're on slightly different pages though as far as Downs syndrome is concerned - i think i'm more accepting of how we would cope than he is.....so i think we'll be doing a lot of research together so he is fully aware of what we would be facing.

it is such a difficult time though - particularly these next 2 weeks when i'm kind of in a limbo...

thanks again for your response, i will keep you udpated about our amnio and cardioscan. and i hope that your next 10 weeks of pregnancy go VERY smoothly!! Do you know what you are having??

Kate xxx

Hi, I went through this nearly two years ago, I didn't have the nuchal scan, I was given a 1 in 10 chance of Downs on the triple test at 15 weeks. It really is the most agonising time. There are no rules about the risk factors, some get 1 in 2 and the baby is fine, other get a positive diagnosis from 1 in 50. I spent endless hours looking up the probabilities on the internet.

The crucial thing is to decide whether you would go ahead regardless. I needed to know, so I opted for amnio. The procedure itself is fairly straightforward, and the results only take a couple of days now so there is less time dealing with the unknown.With a 1 in 5, there is more chance of a positive result than a complication from the amnio.

I was told when I had my tests that they no longer give risk factors for Edwards etc. as the tests don't pick them up as accurately. The issue here is that if you decide against amnio, Edwards or Turners would be picked up on the 20 week anomaly scan and you would be making the decision to terminate much later, which is more traumatic.

Unfortunately I did not get a happy ending, Downs was confirmed and I chose to end my pregnancy at 18 weeks. I really wish I had taken the earlier test and made the decision earlier, but the nuchal test was only available privately 30 miles away at the time and I was so ill with morning sickness I forgot to make the appointment. How many weeks are you? Is CVS an option?

I also recommend ARC, they are an excellent source of information and support, and can help you come to a decision. Take care, you will need all your strength over the next few weeks, I will be hoping your story has a happy ending x

Beinghumum - thank you for your response. i'm 14 weeks tomorrow - so we just missed out on being eligible for the cvs so have to wait for the amnio. they only do mondays\wednesdays at my hospital so i can't do next week as i'll just be 15 weeks (they dated me as 2 days behind as well so they're using those dates - even though i know when i ovulated!)
i'm so sorry to hear about your experience and that you did not get your happy ending, that must have been a really hard decision for you to make. we're still in a dilemma about it all, i guess still in shock about the results, and although we can hypothetically say what we would do we won't really know until our amnio results come in and our cardioscan. i will certainly keep you updated through this thread. xxxx

btw - just sat looking at my report and the bloodwork results etc - can anyone make sense of them for me?

PAPP-A 971.2 mU/L
NT 7.4 mm
hCGb 15.2 ng/mL

thank you x

Do they have the PAPP-A and bHCG expressed as a MOM at all? The closer the MOM is to 1 the better.

Low PAPP-A and high HCG points towards Downs (which is what I had - 0.6 and 3.0 respectively); various other combos give risks for the other trisomies.

If you have the MOM values this will calculate the risks of the other trisomies for you www.sbpsoftware.com/trisomy-risk-calculator.html but don't do it if it will just stress you out.

Take care xx

Hi mrsbigz,

I am so sorry that you are going through this - I was the same in November last year. Our nt was 4mm to start off with which combined with bloods gave a 1 in 4 probability, when it increased to 5mm we had a 1 in 2 probability.

I am just guessing but it sounds like your bloods may not be that bad given your nt measurement. My papp-a was ok but bhcg was crazy high (3.8x normal).

If you look at the moms of your blood results they are expressed as a multiple of the average ie. 1.

It's an awful awful thing to go through but for us having the invasive testing was the right decision. We are one of the lucky ones in that things came back clear and current scans seem to be ok but the one piece of advice I would say is wait and see what the results say before making any decisions - I went through every scenario in my mind.

I just hope things work out for you.

thank you bubandbump for your reply - i'm so glad your results came back clear and congrats on your pregnancy - how far along are you now?
yes i'm trying to keep calm as i can as i know i can't consider anything until we have some results, but it's killing me just waiting!!!
i will try and find out what the mom values were for those results and will let you know :)

FannyLogan,

yes i've got my MOM numbers now both look a little low other than the NT (obviously) which is sky high.....

PAPP-A 971.2 mU/L 0.40
NT 7.4 mm 4.8
hCGb 15.2 ng/mL 0.47

Hi Mrs Bigz.

I had a nuchal fold of 6mm but they didn't do my bloods as well as they knew that it wasn't worth combining them espeacially as i'm classed as an older mum now (37).
I had a cvs done at 13 weeks to check everything and the consultant was very blunt with us saying it would probably be a bad out come. The only thing that we had in our favour was no hydrops and something else cant remember the name of it. It was an agonising wait. Like you i had 4 other children to think about. The results came back clear. (the consultant doesnt see many with this high nuchal with good endings). Then went for an echocardigram which too came back clear.I had an early anatomy scan at 16 weeks to check things over and the only thing that came back was a short femur. We have short legs and tall torso's in the family, so i wasn't worried at all by this. I wn't get the all clear until this monday from my 20 week anonmally scan.
Let us know how you go with the amnio and results and keep our fingers crossed for you..

ghansell - thank you for your reply and good luck on monday with your anomally scan - hope you get the all-clear and can enjoy the rest of your pregnancy without any undue stress!!

yes - our consultant was frowning and tutting at the high nuchal fold, told us not to expect a good outcome.....great, thanks very much indeed!! i will certainly let you know how we get on with the amnio and the cardioscan the same week - am trying not to get my hopes up but part of me still thinks that everything could be ok.....

Me again - I promise I'm not stalking you!!

Having now seen your MoMs, it does seem that the risk factor is all in your NT measurement, and NOT in the bloodwork. For starters, your MoM values aren't typical of T21 as you would expect to have a higher bHCG - well over 1.0MoM and probably over 2.0MoM.

The PAPP-A is borderline low which is a marker.

If your NT had been 1.0MoM (i.e. it was the average measurement for your baby's length) then based on bloodwork alone, your risks for T13/T18 would be in the tens of thousands, with the risk for T21 (1 in 4000 or so!) slightly worse. I got that from using the calculator linked to above which is often quite flakey and can appear over optimistic compared to what doctors tell us, but it does give a rough idea.

So your bloodwork is promising anyway!

Of course none of it means anything without a definitive diagnosis via amnio. I've been plugging in numbers all over the place for months now but all it tells me is risk factors, not answers.

Again I am so sorry you are dealing with this but kudos to you for your interview going well in the circumstances!!

ghansell - Good luck on Monday, I hope everything looks perfect.

thanks sparklies - and i'm kinda flattered your 'stalking' me - nice to have friends in both places :)

Hehe - I'm sure there probably is a bit of crossover between here and there, but up until now I've never spotted anyone and I'm fairly active on both places!

Given that damned NT screening issues are never far from my mind at the moment due to waiting it out, I jump upon most threads in either place that bring the subject up that I can help with :)

thank you!! well you haven't toooo much longer to wait it out - when are you due?? what was the risk factor you were given after your screening?

my age is most prob a factor as well - i'm 36, will be 37 when this littl'un is born!

god - the next 2 weeks can't go fast enough. i seem to be waiting for everything at the moment - for the amnio, to find out if i got my job, to find out whether hubby has got an interview for the job he applied for ..... and i'm certainly not the most patient person in the whole world

Hi I went through this in late December had a measurement of 4mm. My specialist said she really didn't think it was a chromosome problem just by scanning me! However it is not just chromosome problems that cause high measurements and at 17 weeks a scan revealed a diaphragmatic hernia. This pushed babies organs to where the lungs should be. Unfortunately baby was very poorly and we had to end the pregnancy. We were only ever really aware of this screening being that for chromosome problems but it can intact detect other problem mainly heart related I think.

On a more positive note my specialist said like everybody babies are all different and while it might not be considered normal in the text book a high measurement can still be normal for your baby. She put it as normal is still possible, its over there and we just have a few hurdles to get over to get to it.

I really really hope you get good news I remember too well how hard the waiting is and to be honest even though we had bad news in some ways to know the problem was a relief. Much love to you xxx

I was given 1 in 60 by my local hospital, so I went to the Fetal Medicine Centre to get a second opinion - also because they do a seriously detailed ultrasound (who knew there was so much to look at at 12 weeks?) which I don't think most NHS hospitals do at this stage.

Although the ultrasound came back completely clear, I was somewhat put out that they quoted me 1 in 34!! Not the improvement most people have after going to the FMC! I have no idea why this is - it could be anything to do with different formulas used, one place weighed me with my coat on and the other took off a few lbs for my clothes.. who knows? In fact my bloodwork even looked better at the FMC - higher PAPP-A and lower bHCG. It's nuts. Plus that online calculator gives me 1 in 140 or something. So me and risk factors don't get on so well and in my opinion are not as precise as they initially appear to be.

At 19 weeks I had my anomaly scan there and they saw nothing wrong and unofficially lowered my risk to 1 in 70. The professor himself said unofficially "Pah, there is nothing wrong with your baby!! Stop worrying about it!" but did of course officially issue the disclaimer that we can't know that for certain.

On Monday at 31w6d I am going to an amnio appointment at Kings College but I don't know yet if I will go through with it. If I do go ahead, I will theoretically (subject to bureaucratic error..) find out two to three days later. It has been horrendous waiting it out and has caused a lot of issues emotionally and in other ways. It's not so much the fear he has Down syndrome (although of course that factors into it too) it's more the not knowing either way.

If I don't do the amnio, it's down to waiting until the baby is born - no later than 38w2d as that is my scheduled c-section date but I am suspecting he will come earlier as none of my babies have reached 37 weeks yet!

I'm 34, will be almost 35 when this one is born so my age is starting to become a factor too. I have seen women with similar numbers to me just a few years older with 1 in 10, and women in their 20s with risk factors in the hundreds.

Pregnancy is all about the waiting, isn't it?! Drives me spare. I am somebody who likes to be in control and know all the facts. If it wasn't for my fear of invasive testing and losing the baby (although as mentioned on the other thread, for your odds I'd do the amnio) I would have known months ago with a CVS. Some people can just relax and say what will be will be, but I'm not one of them! I have no patience either.

Good luck on hearing about the job stuff - can't imagine that on top of everything else! Never rains etc..

Bluecat - i'm so sorry to hear about your loss - that must have been a really hard emotional time :( yes, we've heard about the heart problems and know that if by chance the amnio should come back clear then there is a very high chance that this baby will have some kind of heart problem....it is all about the waiting.

Sparklies - wow that is surprising that the FMC came back higher risk? like you say, all the risk factors must be so easily moved (like by a few lbs of weight etc) - it is just a numbers game which is so hard. I'm glad that after your scan your risk decreased and i still take my hat off to you for waiting it out. ditto what you said though.....i think if i'd had your risk factor i wouldn't have considered having an amnio. we would have waited it out too. it's just ours is so high we HAVE to know and the risks of having it outweigh the risks we are already facing if that makes sense.

it's so hard though. this is 'supposed' to be our last baby. we had a miscarriage back in october at 9.5 weeks which was hard, but were fortunate to fall pregnant again a couple of months later. but this pregnancy started out as twins and we lost one at 8 weeks :( so nothing has been plain sailing at all. i'm just praying for a miracle which i'm not sure will happen.

thanks all ladies who have replied to this thread, i will keep you posted with any updates. i have my routine midwife appt next thursday so will be interested to hear what her take on this is.

speak soon xx

Sparklies good luck on Monday in what ever dissicion you make.

I was also told that as the cvs came back clear that there would be a heart problem but nothing.

It was odd when i had my cvs done as they automatically assumed something would come back so she said once you get your results we will book you in for the inevitable (sorry i just can't write the word it gives me shivers just thinking about what was going through my head at the time) there was no talk of any other options but that.

Good luck to everyone in waiting. It's a hard game.

Thanks ghansell! :) I will post here on Monday! I can relate to the doctors assuming you don't want the baby - when I asked for my amnio at 32 weeks the first thing the consultant said was "You do realise it will be difficult to do anything about it" which really annoyed me. I know most do choose to end their pregnancies, but even out of those who do, they don't always know for sure they will at the time of diagnosis.

mrsbigz - Sometimes with pregnancy it is just relentless. My last pregnancy was filled with drama from day one until the day she was born in several different unrelated ways including bleeding, measles of all things, suddenly losing my dad etc. I was ready for a break even before my incompetent cervix was spotted at 18 weeks and the subsequent surgery and hoping against hope we could make it. It is just utterly exhausting and a massive rollercoaster even if things turn out fine which amazingly they did in this case.. goodness knows how it must feel if things don't. Never has the phrase "Hope for the best but prepare for the worst" ever been more true than in situations like these.

You sound like a very strong person even if you don't feel like it right now and that will help with the coming weeks :)

Hi Mrsbigz, just wanted to say hope everything goes ok. I had a similar story, I would post the link on here to my old thread but don't know how to! Basically my daughter had a nuchal of 6.6mm and fluid on her heart at the 12 week scan. We were sent to the fmu and given a very bleak outcome. We had CVS with clear results and then further heart scans and extended anomaly scans thereafter. I am sat typing this with my 10 week old daughter asleep next to me. She is perfectly healthy and normal.

Sometimes the measurements are an indication that something maybe wrong, but they are just indications. It's not always set in stone - no matter what they say. X

Bump x

Mrs.Bigz, do you mind me asking how your pregnancy turned out?