CVS results in, please please advice..

[aiti72]

Hi, I'm new here.. Last Tuesday, 11 weeks nuchal scan showed a big 5mm translucency and we got 50:50 chance for 13, 18 or 21 cromosome abnormality. Decided to do cvs and the last week has been an absolute torment waiting for result. We were now called back and said that these three cromosomes plus the sex cromosome are normal and we would be referred to an urgent heart scan for the baby. However, the fetal medicine expert told us a week ago the heart sounded fine and now we would like to know what are the other possible genetic abnormalities that cause this kind of nuchal increase. The full report takes two weeks, but I would be very happy if you could possibly advice us what to brace ourselves to. Sorry I'm babbling, it's been just horrible..

[DawnAS]

Susiedotcom, I just wanted to add my story aswell and hope that it may help you a bit.

Exactly like you, this is our first and we had the nuchal scan. I asked the sonographer at the time if everything appeared Ok and she said that yes, the back of the neck measurement was only 1.9mm and there was a clearly visible nasal bone. Normally (although not guaranteed) at an early scan, the nasal bone isn't visible in a child with DS.

So we went away very happy, only to get a call two days later to say that our baby had come back as high risk for DS. We felt like our life was crumbling around us, we'd already lost one baby at 6 weeks PG and we really felt that everything was stacked against us.

Exactly the same as you, it was my low PAPP-A result that had changed our risk from 1:750 to 1:35.

We opted for the CVS, which was bearable. But then 24 hours later, they called to say that they hadn't got enough tissue and I needed to go back in and have another one. I refused due to the risk of miscarriage and I thought to have two CVS in 48 hours was a massive risk. So we opted to have an Amnio.

Well, I'm now coming up to 26 weeks PG with a perfectly healthy little girl. The risk of a low PAPP-A is that it can cause growth problems and may possibly mean a small baby, but at our 21 week scan, our little Jelly was bang on average size - right along the middle line. So, so far so good.

Please remember that the Nuchal Scan/Blood Test only gives you a "Risk" factor so please bear this in mind.

I'm praying that everything will be fine for you, as it was for us. I'm sure it will be and if you want to, you can then find out the gender. I was convinced that I was having a boy but was soooo thrilled to be having a girl. So far, virtually every item in Jelly's wardrobe is pink - poor child!!

I will come back to find out your result. In the meantime, you and DH be there for each other.

xxxx

[musicmaiden]

Susie

I found it a comfort to read other people's stories here and everyone is wonderfully supportive. So just to let you know that I also had 1:13 odds and had a CVS last week, and the preliminary results were all clear (so no Downs etc). We're still waiting for the full results but it was such a relief to get this news.

I know exactly what you are going through and how distressing it is, but there's still a good chance everything will be well and you will be able to tell everyone soon.

Thinking of you.

x

[susiedotcom]

Thanks so much for your lovely messages. Sometimes you feel you're talking to yourself when you post on these boards, and then suddenly you get a huge wave of support & affection. It really helps.
Anyway, my initial CVS results came back all clear today. I haven't stopped crying since! Over the last 2/3 days I was starting to come to terms with having a Downs child and I'm certain that he/she would have brought us just as much joy and love as a 'normal' baby. My relief really was for my partner who was having a much harder time getting his head around having a disabled child. Of course, what he doesn't realise yet is that all kids come with their own problems!
I'm sure now we're over this hurdle, we'll start to worry about something else before the weekend. But today, I'm actually going to start enjoy being pregnant, tell our parents they're going to be buying extra presents this year, and start looking at the Mothercare catalogue that I've been avoiding for so long.
Once again, thanks for all your kind thoughts. This is the first time I'd posted on the board, but I'm sure I'll be back!
Susie :-) (finally smiling at 14 wks pregnant!)

[musicmaiden]

Wonderful news, Susie - glad we both escaped our horrible odds in the end!

Hope you have a beautiful pregnancy now and LO will bring you much joy - very exciting at 39 and unplanned I must say!

xx

[lesett]

I've found it comforting to read all these posts. It makes you realise others are having the same feelings as yourself. So I just wanted to add my experience so far.

I'm 39 and this is my 1st pregnancy.
My age combined with a Nuchal Scan measurement of 3.3mm gave us a 1 in 6 chance of having a problem with the baby.

We had gone in to the hospital expecting to come out with our first scan picture, a big smile on our faces and were hoping to be spreading the good news to everyone.
So we had a bit of a shock.

I had a CVS at 13 weeks, the preliminary results were clear and we've been waiting for the last 3 weeks for the 2nd results which we have just found out are also clear...such a relief!

However we are also being referred for a heart scan in the next few weeks for final checks so we are not out of the woods yet.

Now I'm 16 wks and getting to big to cover it up at work. I had wanted to be able to keep it quiet until we knew for sure that everything was ok but I'm going to have to tell people and hope that in a few weeks we have some good news.
I feel that we haven't yet been able to enjoy my pregnancy as much as we should due to this nagging fear in the back of our minds that something is wrong.
Like Susie I want to start buying things but haven't let myself. Hopefully I'll be able to do this soon.

Lesley

[babypanda]

I've also been reading all the positive stories too over the last couple of weeks and want to thank everyone for sharing. It helps to know that bad results don't always have bad outcomes.

I had nuchal scan two weeks ago and like everyone else, expected to walk out feeling excited and looking forward to sharing our news with family and friends. As I'm 38 I never expected to be low risk but nor did I expect to be very high risk. We were told the baby had 1:10 chance of down syndrome and mainly due to my low PAPP-A and high HCG. The translucency was measured at 1mm.

Its such a confusing and difficult wait that would be much easier without Google LOL. My "research" has convinced me that low PAPP-A can have serious consequences. What do you think?

Best wishes to everyone for the remainder of their pregnancies and good luck Lesley with heart scan.

[janey5]

Hi, i went private last friday for a nuchal scan, just to get some "peace of mind" How wrong was i !! My measurement was 4.4mm.We are terrified. I skipped the blood test and went straight for a cvs because i was given a 1 in 4 chance that somethings wrong. We are waiting for the result. We are expecting the worst :-((

[janey5]

Well, i got the prelim results yesterday and they are all clear! But they have told me i will have to have a detailed heart scan at 22 weeks because an increased nuchal can be a sign of a heart problem. We are still worried sick but so far so good!

[madoldmum]

Oh My, Am just starting on the rollercoaster. Age 42, just found out pregnant with 4th baby, but my new husband's first! Decided to have every test available (had none with previous ones) and now scared witless! Nuchal testing wasn't even available last time. Doc says CVS can be risky but has referred me. Can't bear thought of being halfway through to have amnio - I felt my last baby move from 14 weeks. Your comments have all been so helpful but also worrying! Had no idea about conflicting scans, CVS and blood tests. Well here's for an emotional 8 months!

[janey5]

Hi everyone, i posted earlier sbout a 4.4mm nuchal. All CVS results came back all clear and i had a detailed heart scan at 18 weeks, this also came back normal. I have got to have another heart scan at 23 weeks and 30 weeks. Will post back when i have any more info.

[melodynelson]

Hi. I'm new to mumsnet, but have found this thread informative so far.

Yesterday we had our scan and bloods. I was dated at 12 weeks, 1 day. I am 38 years old.

Everything seemed fine except the Dr couldn't find the nasal bone sufficiently. She said it was there but much smaller than it should be. 'Hypoplastic' was the term she used.
This brought our adjusted risk to 1:527. (If she had marked it present, rather than absent, which is what she did because it wasn't strong enough, our adjusted risk would have been about 1:2000.)

We are now extremely anxious and booked in to see the Professor tomorrow, and are considering a CVS.

Does anyone have a similar experience?

We are not sure why this brings our risk factor up so high as in the notes the Dr wrote in itself the absence did not increase the risk of ds. We are really quite confused and V anxious.

Any thoughts anyone?

Thanks a lot

[lumpasmelly]

Hi,
sorry to hear that so many of you have had such an emotional roller coaster. I thought I would share my story as it's a positive one. When pregnant with DS1 I had my nuchal done at the FMC and was shocked to discover I had a 1 in 70 chance of Downs due to a 4.4 mm nuchal fold. I was devastated and opted for the CVS then and there (probably lucky that I hadn't googled it before otherwise I would have been terrified). It was surprisingly painless, and prof nicolaides showed me the baby's heartbeat following the test and assured me that the major risk was over. We then had a horrible 2 day wait during which time we went through every worse case scenario in our heads. It was horrific and I have never felt so scared. Luckily for us, the tests came back normal and I was told to go back for the heart tests at 14 weeks and 20 weeks as a precaution.....at this point in time I was given a lot of reassurance that we were basically out of the woods so to speak....and we were, as all the heart scans went well, and the baby is now a very intelligent 5 year old!!! It is very distressing to hear how some of you have been put through the mill of the CVS and even after getting the all clear, the consultants are still putting you through the wringer and pointing out more things that could potentially be wrong (when in most cases everything is fine). 1 in 100 babies is born with some sort of birth defect, and things can develop in the life of a child that is apparently born healthy at any point...so why place so much emphasis on all the things that COULD go wrong....when decising to be parents we all sign up for the fact that it's not going to always be a walk in the park.while i agree with prenatal testing for the major abnormalities and believe it gives parents vital information and choices, I think that sometimes the stress that it can inflict upon couples is not worth it......sorry - beginning to rant now, but I still remember the stress and trauma of my experience like it was yesterday, and I truly believe that it has given me a rather pessimistic view re. childbirth and I automatically think of all the things that can go wrong...whereas prior to this experience I just expected the positive!! Don't worry - I haven't let it stop me having more children...had another DS and have another DC on the way. Needless to say, I'm dreading the nuchal.....

[mogli]

Hi All.
I'm new to all this, but am so nervous I gotta talk to someone.
Last year following a cvs we found that our baby girl had downs, and something I regret massively now, we chose not to continue with the pregnancy. I am now 12 weeks pregnant and booked in for cvs on Tuesday, but I'm absolutely terrified. I've been trying to find out how likely a second DS pregnancy is ( not considering termination again), but a worrying myself stupid & can't stop crying.

[LuluMamaaaaarrrrr]

agree that a CVS if you do not intend to terminate is mabye an additional stress . perhpas the non invasive nuchal translucency scan would be a better option and then followed up if that shows any indications of down's syndrome?

it is perfectly natural to feel anxious and fearful this time round

[melodynelson]

HI.
Riven - I know our risk was in fact low, but my problem was comparing it to my sister and sister-in-law's results. Not sensible maybe, but very difficult not to do.

We saw the Prof. last week, following a second scan where the Dr again could not see the nasal bone. The Prof came in and within 30-odd seconds declared he had found it, nothing to worry about, enjoy your pregnancy.

So...
I have not stopped worrying about everything. But that, I guess, is the start of what being a mother can be like.

I am doing the best I can to stay positive for our baby. I feel guilty that I am not more positive and carefree.

Good luck to everyone!

[xjordanax]

Hi all,

I've noticed the last post on this forum was a couple of months ago now so hope it is still active!

I had my dating scan on monday (30th Nov) and found "very worrying" results according to the midwife. There was alot of fluid visible around the head and down the body of the baby. I was referred to a consultant for the next day, he too found the results worrying and suggested CVS, which i had done straight away.

Still waiting for all results, but just thinking of the worst, am an emotional wreck and feel like i am alone in this. Until i saw this forum that is, cant believe how many women have been in the same/similar positions. Although most of the posts have been positive (thank goodness for you all!) i feel that if i think positively it will make a bad result even worse to deal with.

I am 20, and this is my first pregancy, so age wise i'm apparently completely healthy, which seems to make this all that little bit worse!

Really hoping that my results will be ok, however the consultant has been very negative about it all and seems to think if the chromosomes are all clear, then the problem will lie elsewhere, very worrying stuff!

Hopefully there's still women that use this forum, will keep you updated if there is! thanks again to all you ladies who have posted, really has been a great help and has stopped me crying for an hour of today at least!

x

[MrsCheets]

HI
I had a 12 week scan and the nuchal fold result was 5.2mm, i then had blood tests and my chances came back as 1 in 3 very high. I have had a CVS today and the scan showed today lots of fluid all around the baby. I have to wait till Thursday for the initial results. I am trying to be positive but it is very hard having not great odds. I would like to know if anyone else has had such a high risk and how it turned out for them.

[helenlouisey]

Hi MrsCheets, I had a risk of 1 in 2 for Downs and Edwards Syndrome, unfortunately I didn't have a positive outcome. But remember you have more chance of your baby being ok than not, try to stay positive and keep busy while you're waiting for the results. Maybe post here www.mumsnet.com/Talk/antenatal_tests_choices

There are some lovely ladies on there who will give you lots of help and support.

Good luck

[katiecubs]

MrsCheets so sorry you are having to go through this. I had a very similar diagnosis to you high NT of 5mm and fluid all around the baby - unfortunately my diagnosos was not good (baby had Turners syndrome but was so sick she wouldn't survive). However i have read of positive outcomes too so don't give up hope. Thinking of you and your family and really hoping you get the all clear xxx

[gez17]

hi im 26 yrs old and expecting my 3rd baby.I had a cvs done on mon and am now worried sick i cant sleep or focus on anything else.My babies measurment was 5.1mm.I never had this with my other 2 boys and is all new to me.Is there anyone else my age who has had this done,or who is not having there first baby.I hear that it is rare for someone my age to have it done which is worrying me even more.I can't handle this waiting.

[gez17]

ive just had my cvs results back and every thing has com back normal.I am over the moon ,i am hoping now that every thing else the heart scans im due to have in a couple of weeks will be fine.I felt like a weight had been lifted off my shoulders but at the same time im thinking that there is someone else out there who wont have the news they were wanting to hear.And my heart goes out to them.Things in life happen for a a reason good or bad but its our decission what we do about it and no one elses.....

[MrsCheets]

Well i had my results from the cvs and the baby had downs. My husband and I both made the hard choice not to carry on with the pregnancy. In actual fact the cvs started off a miscarriage the day before i was due to have the termination so in the end the choice was taken from us anyway. My baby girl was born on the 8th of March at 13 weeks, we named her Grace. We hadnt planned to have her or anymore children (we have a little boy already)but she has shown me that i do want another baby and we plan to have one asap.I know everything happens for a reason and sometimes its just not supposed to be but i feel her purpose in her short life was to show me I did want another baby deep down.

My heart goes out to all of you that are going through the same thing.

[mommy2aprince]

I had my 20 week u/s on the 28th of may. Found out we were going to have a beautiful girl. Two days later we got a call saying they had some concerns, they could not see the nasal bone. They sent us to a specialist and the specialist says it is a hypoplastic nose. Can someone please help me??? I have heard it has something to do with down syndrome, but does anone know anything about it? or experienced it themself? My husband and I are sooo very worried!!! Please help!