Nuchal scan shows one in 3 risk - feeling sad and stunned.

[Mandy73]

With utmost respect and admiration for all parents of children with DS, DH and I both grew up with younger relatives with severe SN, and although we know there are no guarantees in life as well as many fantastic families affected by DS, we were always going ahead with screening.

Had the nuchal this evening (12+4) and it's all very sad, confusing and conflicting news. One in three risk of DS and a one in 36 of Edwards. My bloods (w 9) were crazy bad (Dr said she expected a MC when she first saw the data). The neck measurement is 2,7 but weirdly the bad blood value does not indicate DS, more like Edwards, which I understand is a more severe chromosome abnormality. The baby is big and long, which could explain the bigger neck, and the fingers perfect, which speaks against Edwards. I'm 35 and this is #1. Being fast tracked for placenta biopsy - spending tomorrow at hospital hankering for a free slot - and would really appreciate to hear from anyone who has been in a similar situation.

The baby was v wriggly and beautiful, heartbeat normal.

Thank you so much. x

Thank you very much shangrila. Sounds like you had a great experience.
I'm tempted but dh is v concerned, also it wouldn't be so easy for us to get back home = another stress factor.

Mandy73 - have had results from nuchal neck, blood tests giving strong poss of problems and also once a cvs that showed that there were chromosonal problems in the placenta. The only way to know is with an amnio not sure if there are any other tests. I had an amnio at 14 weeks which gave a few days later some results & then after 10days full results. Was ok and I hope for you it will be ok as well.

Hope things work out xxx

Mandy73, I've only just seen your news, I'm so sorry you're going through this.

I too had a high risk (can't remember the exact figures) of Edwards and had an amnio. The wait - though nowhere near as long as yours - was agonising. I truly hope you have a good result, like we did. xxxxx

Mandy - see if you can be referred to Kings - I had 2 CVSs there by Prof Nicolaides and he was brilliant.

Mandy73 - I'll keep a watch on what happens and will be thinking of you.

We had a 2 hour train journey each way, so I appreciate what you say about the stresses of travelling. Nothing is simple!

Test process aside, the whole experience wasn't so great as we had a poor outcome from the final result. Happens to so very few people, but it was us this time.

I wish you all the luck in the world and am happy to talk over absolutely anything.

Hi Mandy73,

I am so, so sorry that you are going through this. I had high risk results in both pregnancies. First time with DS I had an amnio and then I with DD I has a CVS. My risk with DS was 1:186 (not high risk but was scared witless by the rubbish midwife I saw) and with DD the risk for Downs was 1:25 and 1:8 for Edwards. Like you the nuchal measurement was not too bad, it was the bloods that made my results worse.

I found the wait for both the testing and then the results absolutely agonising and couldn't get the figures out of my head. I just wanted to go to sleep and wake up when it was all over.

I found Antenatal Results and Choices (arc-uk.org) absolutely invaluable, they talked to me until I really understood the results and gave me someone else to contact to discuss the biochemistry results in more detail.

In the end neither of my children have downs or edwards ( to be honest I still don't know what I would have done with the results).

The midwife I saw at Liverpool Women's hospital told me that some women just have 'dodgy blood' and that in all probability if I had 10 more children they would have high risk results.

My heart goes out to you and your DH. I hope the next couple of weeks go quickly for you. Take care of each other x

Thank you so much everyone for sharing comments and support. It makes such a difference 'chatting' to people who've actually been through similar stuff, unlike some friends/family who say "Oh, well, I was worried too but everything was OK in the end" or "It's a natural process, at least you can get PG." Like, what the hell is that supposed to mean? How does that make us feel better?
Having quite a black day today, sorry.

cupsoftea, you had an amnio at 14 weeks?!
Didn't think that was possible... I'm 13+4 today.

shangrila so sorry to hear about the outcome for you.

mrslurkalot, yes the 'dodgy blood' theory is interesting - FIL is a biochemist and claims these tests are notorious for being unreliable/giving false positives for chromosome abnormalities but we don't want to cling onto that notion too much.

To be honest we do know what to do with the results, and that's a v difficult but personal choice to do with our family histories.

Many - I have just seen this thread and I am very sorry for what you are going through. If there is anyway you can get to the Fetal Medicine Centre I would HIGHLY recommend it. We had a bad nuchal measurement with this pregnancy and went to the FMC who were able to do a very detailed scan measuring all sorts of "soft" indicators that the NHS is unable to measure for. It was the FMC doctors who invented the nuchal scan which is now used internationally and they are pioneering all sorts of new techniques. After the detailed scan they took bloods and within 15 mins gave me revised risk assessments and MUCH more info (on the spot) than the NHS did.

We did not go ahead with further testing and the 20 week scan was very promising but in the end only time will tell. I am sue December.

Good luck whatever happens but I just wanted to emphasise how much more info and help the FMC can give you (and they can usually fit you in with an appt very quickly).

Many thanks artichokes. We didn't have the nuchal screening with the NHS but private, with Oxford Fetal Medicine (no other options here - they're known for being good though), and FMC do the blood testing for them. Since our shock result it's been NHS at the John Radcliffe (v good) - all the wait & issues is just down to bad coincidences with my body, stuff beyond everyone's control, and not much that FMC could do anything about we feel.

Good luck to you too!

Hi
Thinking of you .Its a very difficult time and the waiting is agonising.I had 1.36 risk for Downs 1.8 for Edawrds and 1.8 for Pataus.Having already lost a baby at term I was inconsolable and convinced there was a serious problem.Also I found the figures confusing I kept thinking baby must have 1 of the things and that the 3 risks added up to a bigger risk although i was told they did not Had an amnio and all ok .Son now 6.

That's great Rangirl, v happy for you.

Hi Mandy, only just saw this thread.
I had some thoughts that might help make your wait more bearable.
At least with amnio you will get a definite result (none of the ambiguity of mosaic conditions like you can get with CVS). Also, generally, the risk of m/c from amnio is thought to be lower than from CVS. Because With CVS they take a chunk of placenta --it actually damages the placenta. With amnio it's just a sample of amnio fluid. Also, amnio is likely to be less painful, if painful at all.

Also, by the time of the amnio, it may be possible to look clearly for some types of abnormalities and deformities. Knowledge about these can help you feel more confident about whatever decision you eventually take.

Best wishes and good luck.

yes was 14 weeks - the placenta showed such a range of chromosonal probs we had to know. It turned out to be cpm confined placental mosaicism. It was a really worrying time.

I had the cvs as the nuchal neck was 5. something mm. cvs showed probs so had an amnio as early as poss. Amnio ok - but I had detailed scans to check on development every few weeks. Very stressful. My dd was ok.

After this I had the nuchal test in next pregs (was too big with one & ok with another) & the blood tests - always worrying results. I decided not to have any more invasive tests but scans to check on development. All was ok. A very stressful time. Follow how you feel, take care of yourself.

best wishes xxx

Escondida, what you said is exactly what we're trying to focus on, many thanks.

Cupsoftea what an awful time you've had, and how wonderful everything was OK in the end.

Some people just don't seem to fit into the norm - without anything actually being 'abnormal'.

How are you feeling today Mandy73?

Thanks for asking mrslurkalot, much better today. Have been out and about trying to focus on other stuff. Noticed I can't really look at babies or other pregnant women though.

oh mandy73, thinking of you, xxx

Hi Mandy73, glad you are feeling a bit brighter, I expect you are quite up and down though. I think your feelings about other pregnant women and babies are totally natural. I also swayed between being very, very protective of my baby and trying to forget I was even pregnant. Try to be kind to yourselves. Have you been in touch with ARC? or was your FIL able to tell you all you need to know? I have been thinking about you. It was such a dark time for us, the waiting is absolute agony. By the way, one thing that I found really great was that after an amnio or CVS they can tell you for definate what sex you are having - if you want to know. You will also get to see your baby again when you have your amnio. I couldn't bear to watch with DS but when I had my CVS with DD I watched her bouncing around looking so gorgeous and it gave me real comfort xxxx

Mandy73, just to say I am thinking of you and hoping that it will work out. You sound very thoughtful and as if you are coping as well as anyone could possibly expect in these difficult circumstances. JR in Oxford is excellent, really glad you are there in their care. GOOD LUCK and keep talking here, I hope it is helping. x

Mandy73 I had a 1 in 7 risk from a nuchal scan - all down to PAPP - A (If you search PAPP in the archives you will find my very worried threads. I was caroline1852 back then. I also had terrible result wth my pregnancy before last, again down to bloods. Everything was fine for me and I am fingers crossed that everything will be fine for you too.

Thank you so much for your support girls, it really helps talking here.
mrslurkalot we kind of feel we have all the info we need for now so haven't contacted ARC, thank you. We don't want to know the sex. I know what you mean about trying to forget I'm even pregnant. It's getting harder though, def. getting a bit of a bump and am almost convinced I can feel tiny flutters/bubbles.
I didn't see much of the scan, was in a strange place mentally and also the screen was at a weird angle. DH saw everything and said it was amazing, he is so sad he feels he can't enjoy it. Says he is haunted by the beautiful little hands.

quaranta I'm glad to hear you feel the JR is excellent, v comforting.

Swedes, hi there, a fellow dodgy biochemistry person! So happy all was well for you. I dare not think we'll be so lucky too.

Hi Mandy73, how are you?

I'm OK thanks. Just wish I could fast forward 8-9 days.