CVS today - nuchal scan yesterday, soft nasal bone, 1 in 96 chance of Downs Syndrome...

[LadyThompson]

Had nuchal scan and bloods yesterday at the Fetal Medicine Centre - nuchal fold, heart and everything else perfect, and when I phoned my obs she said were it not for one thing I'd have walked out with 1 in 900 - BUT at 11 weeks 6 days, the nasal bone hasn't calcified, and this is a marker for DS, and brings me down to 1 in 96, which is apparently considered very high risk (though it still means 95 out of 96 babies with my results will be chromosomally usual!). My obstetrician has advised me to have a CVS, which I can have tonight. Obviously I am worried about this. IF there isn't a chromosomal abnormality, possibilities are: that it will just develop normally in the next week or two; or that my child maybe born without a nasal bone. My obs has delivered three babies like this, and they have reconstructive surgery and you can't tell there's been a prob by the time they go to school. Sorry to go on - anyone had any experience of any of these things? Any advice welcomed.

ladythompson -how did it go? as littlemydancing says you're in the best place if at FMC and Nicolaides is fantastic.

and if you're still confused get them to explain again -have some experience of FMC and they are very patient if you keep asking quesitoins

thinking of you...

can't write a huge message - time for breakfast and out the door on the school run - if you search in pregnancy for my name - there would be a number of threads where I have shared our story.

At our 20 week scan it was shown that our dd1 had a very serious heart defect. ON being scanned at Harris birthright Trust at Kings - we learned that whilst the heart defect was very serious - it was repairable and had a good prognosis. BUT we also learnt - in the words of the fetal cardiologist - if she was born without down syndrome it would be very very rare.

We chose not to have further testing for a number of reasons - but one was that we knew families who had members with down syndrome. We also knew that by and large people with down syndrome are able to live independently. Like autism - people with down syndrome are on a spectrum in terms of ability and development.

That wee little girl was born almost 6 years ago. She underwent two open heart surgeries at 8 weeks old and has not looked back since!

This year she started mainstream schooling and is doing very well.

We have since learnt that with her heart defect we were probably looking at a chance of about 1 in 5 of her having ds.

We just knew that she was our little girl ( our first) and who knew her potential.

Thanks to everyone for posting - you all made me feel tons better. Hurrah for MN, it really is a godsend. Dear Eidsvold, I have ready many of your posts before, with great interest and admiration and will continue to do so. I really appreciate your posting. Poppy34, Angel1976, clumsymum and littlemydancing, here is a description of what happened (I know some of you have already had them so feel free to skip if it's boring!)

I had it done about 8.30pm. One of the Prof's minions did another ultrasound and then the man himself swung in, all theatrical, with about four other acolytes. He was full of patter, told me to cling on his arm, told the ultrasound guy off for not being quick enough, gave me a quick injection in my tummy and then VERY quickly plunged in another larger needle, quite dramatically! They then put another needle through the guide needle and took samples of the placenta. It was very fast but it did hurt and feel unpleasant, but if anyone reading this is about to have one, it is VERY brief so COMPLETELY bearable - truly - under a minute? Maybe even less. He took the needle out, checked the baby's heartbeat (fine) and said to me "Don't worry, your risk of miscarriage is now over and you don't even need to rest. If if hurts after, take some paracetamol." By the way, I read that the pain varies from very mild discomfort to severe - I guess luck of the draw.

I felt very shaky for about a quarter of an hour, but that was the shock. But no pain and I felt fit as a flea, as I do this morning. They hope to give me the main results on Friday afternoon. Now the actual thing is out of the way, I feel more relaxed and philosophical. Obviously, you worry about the likelihood of miscarriage, but I think Prof Nicolaides is basically a genius and I forgive him his ego because he has really, really earned it with a career like his. All the staff at the Fetal Medicine Centre are fabulous. The Prof does all the CVS (and I think) the amnios personally, and stays until the small hours if the queue is long. What a man.

Now it's the waiting game, which ain't fun as some of you know; but whatever happens, it has changed my perspective on 'disability' forever - for the better.

Thanks for update LadyT, hope all is well for you.
Very funny description of Prof N!!

Glad it went well... Let us know your results! What I learned from my experience if what you think you might do in a situation is very different to what you would actually do... Lucky for us, our results were normal. If not, I still don't know today what I would have done, hand on heart...

I wonder if all consultants who do CVS' are drama queens! Ours definitely was - Professor something or other at the Bristol Fetal Medicine Unit.

Really glad it went ok - we were also told privately that when they go smoothly like that there's very little risk of mc - don't know how true it is but we found it comforting. Apparently experienced consultants can tell the ones where it's gone a bit awry.

Let us know your results, will be thinking of you

glad it went well, LT...

Will be looking tomorrow for your results!

Well done for being brave enough to go through with it. I think you did the right thing.

Lady Thomson - I hope you are putting your feet up!

I have had 2 CVS's - I was 37 and 38. I am having my 3rd CVS on 5th June as I am expecting dc3 - I am now 41.

I had both abdominally and as you said they are uncomfortable - I found it all very emotional - in case I miscarried and or if a chromosomal problem was found.

The good thing is I got a provisional result the next day and then had to wait 2-3 weeks for the final result - at least I got to find out for definite what I was having - my 'reward' for getting through it all.

Hope you find out soon and hope everything goes well - but I hope you have your feet up!

(big smile and hugs emoticon)

Thanks Hotmama! Not putting feet up, no - back at work, chewing my nails about tomorrow! I would have a CVS again and I wouldn't worry about it so much this time - what I mean is, the actual procedure. Obviously the waiting for results bit is purgatory. Really good luck for the 3rd...This is a tangent, as I am trying to distract myself, but are CVSs available on the NHS? I hope they are. The disparity between the levels of care in both sectors frankly depresses me.

Lady Thompson - my CVS's were both on the NHS - but to be fair I think where I am (Nottingham) we get pretty good care.

This time around, I wasn't going to get a booking in appt until I was 10 weeks. However, when I explained I needed one earlier as I needed an early dating scan to enable me to have a CVS - they made me a booking appt at just over 6 weeks and had my dating scan last week - so no complaints!

Now just biting my nails for the next couple of weeks!

(crossed fingers emoticon - report back when you get your results)

LadyT, Your experience sounds like a repeat of mine except my ratio was 1 in 9. We opted for a CVS without hesitation with Prof. Nicolaides. We were his last patients for the day and didn't get to see him until 11.30 that evening (just had time to catch the last tube back to the hotel). By the time he saw us he was wiped - but lovely to us all the same. In fact all of the staff looked dead on their feet and still remained smiley and positive. I was so relieved after the procedure and the wait for the results seemed like nothing at all. They rang at about 4pm on Friday and my husband took the call as I wasn't up to hearing bad news. As it was - all is well and we have a healthy baby on board. Best of luck with your news on Friday. Mitigger

Lady Thompson I hope you get good news tomorrow, the wait is horrible isn't it? I went through the same thing 8 years ago (when CVS was really new), my risk ratio was 1 in 16 getting the 46XX result was a massive relief.

Nicolaides is impressive isn't he! My mum worked with him & has many amazing tales to tell

Hi Ladythompson, this is the first chance I have had to check back on you. Glad the CVS went as well as it could have. I hope you an DH are managing to cope with the waiting. All the very best for the results tomorrow - sending you positive vibes!! xxxx

Lady Thompson

Hoping so much that you get the right outcome for you on Friday.

I had a CVS with 'the man' himself about three years ago and your description is spot on. At one stage he gave me a right old telling off about something! But you are right - I forgive him his ego, too.

Will be checking in on Friday to see how you go.

hi LT

Just checking in to see how you're doing - have you heard anything yet?

Thinking of you and keeping fingers crossed x

Thanks Kitkat. Haven't heard yet, feeling pretty miserable. From what they said, not really expecting to hear until late afternoon. Going to take a lunchbreak in a bit but worried about going for a walk in case I don't hear my mobile - you can't leave a message on it.

don't be miserable - think positive! Go for a nice calm walk, take your mobile with you and hold it in your hand, put vibrate on!

You'll be fine.

hi ladythompson

i had a 1 in 87 chance of ds about 3 years ago. i decided to have c.v.s as i knew i would not continue with the pregnancy if i had an adverse result.(sorry)....but everything was fine..i had mine at st. georges hospital london. the m/c rate is only 1% which i considered a risk worth taking. thankfully everything was fine.

best of luck with everything.

It was more like early evening (5.30) when they got back to us. The FMC is big on long waits...

Hello everyone...LONG post ahoy...They called twenty minutes ago and for the immediate things they test for THE BABY IS OK...no Downs, no Cystic Fibrosis...the rarer ones come back in a fortnight but they don't seem too worried about those because Downs was what they thought it was. I clutched my mobile in my hand for an hour as I paced the streets, and they called when I was on one of London's noisiest roads, of course...! The bad thing is I can't tell DP, as his job is one where there are times when you absolutely cannot take calls. So I feel a bit bad telling you first, but you've all been so amazingly kind to me, you deserve it!

I was completely elated obviously and I still am; but you know, it really is tempered by the fact that somewhere, someone is the 1 in 96, or the 1 in 9, or even the 1 in 9000. There is ALWAYS that one and yes, I am thrilled for my child to the extent of being a gibbering idiot, but I can't be jubilant and I never will be, because my baby COULD have been that one. The other thing is, had my child been the one, I don't know what I would have done. This is where I am not that proud of myself - I think I swung every hour between being 60:40 in favour of keeping the baby no matter what, and 60:40 in favour of a termination. Part of the point of having a CVS was that if I did decide to have a termination, I could have one before 16 weeks. After 16 weeks, you see, you have to deliver the baby. Horrible thought I know. But every time I thought about having a termination I wasn't sure I could go through with it, even though I knew that's what DP would have wanted me to do. He is not a bad person, and would have found a termination hard as well, but he still would have opted for that over a life with a child with Downs Syndrome.

I realise I am really rambling here, but this has really made me think about what counts as 'normal'. Who am I to pronounce about what is and isn't? Look at all these Mums on here with children with DS or other things, who love them unstintingly, and wouldn't swap them for anyone else. Even now I don't want to say my baby is 'normal' - maybe I am frazzled, but it seems offensive/judgemental. I am not some tiresome politically correctite, but just for now, I will say say 'chromosomally usual' instead.

Anyway, the fact is, we are probably all woefully ignorant about what it's like to have a child with DS, and the very best of us love whatever child we have got. I am going to make a large donation to a DS charity (suggestions gratefully received). And I send you all lots of luck and love!

PS - It's a GIRL

We did the same after testing, it seemed a bit trite in a way but it must have just been conincidence that we received a request for donations from a centre that encouraged and supported people with downs to be able to live fairly independently in flats/apartments, within a week of getting the test results.

Isn't that a nice compensation for putting yourself through an emotionally draining test and waiting uncertainly for the results, you get to know the sex absolutely beyond doubt.

I had amnio with both babies due to my age and vague nuchal results. I asked to know the sex both times !

That's fantastic news

Huge congrats on your lovely little baby girl. I'm so happy for you

Gem x

fantastic news!

so pleased for you.

opps..none for you lt.. lol

Have you started thinking of names yet ?