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..

sometimes, the thickened nuchal fold can appear normal on subsequent scans, or can indeed amount to nothing..Im not an expert in this field , hopefully someone else can advise better, but a friend of mine had the same thing happen and her baby was absoloutely fine.

Hi aiti72
I had a CVS so I know what you are going through. Horrible.
Have a look at arc-uk.org. They have lots of info on testing and also have a help line.
Sorry I can't be more use but I'm sure someone will be along soon is more helpful.

the nuchal scan isn't wonderfully accurate but the CVS is pretty good so you'll be reassured there.
Don't know about other genetic abnormalties.
And just want to say I have a disabled baby (lack of oxygen at birth so has severe cerebral palsy) and disabled babies are like any other babies and you love them to bits.

Hi aiti72, I've been in a similar situation so will only tell you what happened to us, sadly ours doesn't have a happy ending so forgive any insensitivity - obviously its no reflection on the situation for you.

At my 12 week scan the translucency was measured at 13mm, so very big. I was advised that there was a problem and CVS would be the next step. You are so right that the wait is awful and its the only thing you can think of isn't it? Our preliminary results came back fine and the full report came back fine as well. I was told then that there was a 10% chance that the baby had a heart defect but this also turned out fine. I was scanned again and the baby had developed fetal hydrops which is where fluid builds up all over the baby. Some more blood tests were done but all came back fine and negative but obviously my baby was sick. I was scanned again a couple of weeks later to determine any change and the hydrops was much worse and they determined that my little boys joints were all fused and that his organs were not developing properly. There was no diagnosis at the time as to the exact condition but I was told that he would never survive if born and would more than likely pass away before term. As a result we decided on a late termination. A post mortem was needed to identify the problem and our little boy had something called mutliple lethal ptergia, a genetic abnormality caused when both parents have the exact same faulty gene (which is pretty rare). We have a 1 in 4 chance of the same happening with any pregnancy.

Sorry if my story is coming across a bit blunt and naturally I pray more than anything that there is nothing wrong with your baby. The positives for you are that the measurement is lower than ours and even with a measurement of 13mm, my midwife and consultant were saying that in some babies they have this build up and it just suddenly disappears to the extent that nothing is visible at a next scan. I was even told of a lady whose baby had a large translucency measurement right up to birth and the baby was fine - there seemed no explanation.

If there is a problem then hopefully you will receive the same excellent care I have and I'm pleased to say we've gone on to have another wee boy who is fine and healthy.

Please let us know how you get one and please do get in touch if you would like to.

Best wishes
x

Chooster, thank you so much for sharing your story. I am so sorry what happended to you, but really happy you had the courage to try again and have a healthy little boy! Your sad, but inspirational story gives me hope that our family will somehow be ok some day. I'll let you know how this turns out.

My friend had a high nuchal, then normal genetic test on the cvs. The karyotype came back as mosaic XY/XO- that meant that some cells in the baby (or placenta) were missing a sex chromosome. THey were rescanned- the baby was definitely a boy so they were told not to worry to much about it. When the baby was born they decided not have him tested so the last I heard he may have had mosaic XY/XO or may have been entirely 'normal'. He seemed fine anyway. She had a very large nuchal measurement.

aiti72. i know what you're going through.
i had a 1 in 87 chance of downs, so i had the c.v.s. the results came back fine, but the pressure of waiting was awful. just relax
worrying wont do anygood. i'm sure everything will be fine. keep us updated.
lots of love x

I had a CVS with my second pregnancy, first pregnancy chances of Downs were 1:1300 and two years later were suddenly 1:18 and high measurement on the nuchal. I was worried, had the CVS and agonising wait. Everything was fine and ds is now a very happy and healthy 18 months. I don't know much about the further tests and possible heart problems but try not to worry until you have the full results as often potential issues turn out to be nothing. Good luck.

Hi there just to say I had cvs with last pg and I think if I remember correctly the full report is just the test for cystic fibrosis? If the first stage that tests for the most common chromosome problems like Downs has come back normal your chances of the 5mm indicating a genetic problem must have gone down a hell of a lot (or be something much rarer). I am sure they will do some more scanning to check further and hopefully put your mind at rest. good luck.

Hi, just wanted to update this.. I got the full cvs report back and it was ok. Also, in desperate search for answers went yesterday to see professor Nicholaides himself. Nuchal increase was still almost 3.9mm, but after examining the baby Nicholaides said there is about 85% chance she is ok. If at 20 weeks scan the transluency is gone and no other problems seen this baby has no higher risk that any other baby. So another 6.5 weeks wait... But I have to recommend the Fetal Medicine Centre, all staff was very professional. I will let you know what happens to us.

Glad to hear you have had some good news. He is the leading expert in the world so you should feel massively reassured by that but I'm sure you won't relax until 20 weeks - I would be the same. Still sounds very positive. Good luck and really hope it all works out OK for you.

Hi,
At my 12 week scan we got a nuchal measurement of 6mm. I had a cvs and the results came back normal. We were offered a heart echo on the baby at 20 weeks, this also came back normal. We had a normal anomaly scan at 20 weeks, but the nuchal measurement was still bigger than normal. We were scanned again at 24 weeks and the nuchal measurement was normal. Our baby was born at 40 weeks and was absolutely fine. He's developing normally (he's 13 months old now.) We did all that worrying - it's so hard not to. But in the end everything turned out for the best. Hope this helps.

Hi all

There are a lot of thankfully reassuring stories on here. I'm in the position at the moment of you, aiti72. We had the CVS test (nuchal measurement 6.4mm) and all came back clear from the test. We're now waiting to have a cardiac and anomaly scan next Monday. I just don't know what to think or how to feel - I'm 15 weeks now and am just dreading if all is not well...

Great news aiti72 - and good luck to you ticklepickle. As I said in my post, my babies measurement was 13mm and even then we were being told of possible positive outcomes. Best wishes x

I went to the FMC as my nuchal measurement was 3.1 and combined with my very old age gave me a risk of 1.25 for downs.
Results OK for CVS but they did advise a heart scan at 20 weeks. My local hospital wont do this as they say their cut off rate for heart scans is 3.5mm and I dont think I can justify going back to the FMC so will probably just have a regular scan
I've known people with large measurements (and good CVS/Amnio results) have babies that were perfectlty fine at birth and some that had heart problems - but of the latter all were fixed and the babies are well and healthy now as far as I know.

My heart goes out for you ticklepickle, please let us know how your scan goes on Monday. I am 14+4 now and people have started noticing the pregnancy (this is my second and I never had any abdominal muscles), and I find it really hard trying to hide the belly in case all goes wrong. I'm beginning to think whatever outcome must be better than this limbo of not knowing..

Hello, I'm bew here, hope you don't mind me commenting... our first baby's nuchal and CUBs came back with a risk of 1/3 downs and 1/7 for both edwards and pataus (sp?). We had amnio done at 16 weeks and got initial results the next day that all was fine. It was the most distressing experience and we kept thinking there must be something wrong to have got those results. Baby was breech and ended up an emergency CS and in special care. In special care a consultant paediatrician was worried she had turners syndrome because her neck looked short and she was tested again (poor baby) and all was fine - her head had been mashed up next to my ribs for weeks and her neck looks normal now. She is 3 and a half years now and very healthy

I have heard loads of similar stories - the nuchal / CUBs are very blunt instruments I think.. Good luck Aiti72...

Hi aiti...I am also in a similar situation. This is my 2nd pregnancy and went to dr's for a NT scan when it came back 5.3mm. We just got our CVS test back yesterday and all was normal. I am 14 and 1 day pregnant so we are basically in the same boat. Please let me know what happens...I wish you luck
It is nice to speak to someone who is going through the same thing.

We are in the same boat, dlynn . Happy to hear about your cvs, though. I thought that was the worst wait, now it's just a day -and a scan- at a time. If Nicholaides is right, unless the nuchal translucency has increased, you should have the same fairly good odds for healthy baby now. Our NT seems to be resolving, but there is still 3mm. I had a fetal echocardiogram yesterday with two fetal cardiologists looking at the screen with worried faces. I was 14+6 yesterday and the cardiologist said he could see if there is a major heart problem, and there wasn't. There is still possiblity for something less severe and they will re-scan mid-March. I cannot believe there is a possibility I am still pregnant mid-March! Thanks for writing dlynn, I let you know what happens and wish you all the luck.

Hi Aiti...i wasn't awar that they could look at the heart that early. I was under the impression that I had to wait until 18-22 weeks! What a relief (a little bit). I haven't spoken to my dr since he left a message on my machine friday saying that the cvs was normal. Now I know when i call him tomorrow that i should expect him to be setting me up with a fetal echocardiologist. Thanks for that!
Also, I guess you found out that you are having a girl!??! Congrats...is your first child a boy or girl? I am not finding out the sex, but somebody once told me that sometimes the nuchal thickness is increased in girls more than boys. I don't know if that is true or not, but whatever!
Who is the Nicholaides that you were talking about above? Where are you writing from? Just curious...K.I.T

nikolaides is at the fetal med centre harley street in london
hes excellent
all the money goes towards research

Hi dlynn.. They can indeed check the heart from 14 weeks onwards when the size of the four parts of the heart, main arteries etc. shows. The foetal cardiologist said he would see if there are any 'grave heart defects.' This scan was important to me as I rather go through this difficult pregnancy by crossing one bad-outcome-possibility at the time as early as possible even if it means going for several scans. Its just that the thought of waiting until week 20 to find out something really bad that could have been seen six weeks earlier horrifies me. If you want just be tough and demand an early heart scan, I told my midwife I frankly could not cope with late termination of pregnancy on the grounds of something that could have been detected 1.5 months earlier!

I'm writing from London, where about are you? And yes, we are having a little girl, our second, it's still hard for me to write those words as I don't want to get too excited about this pregnancy just in case we lose her.. this emotional roller-coaster..

I'm sorry to assume everyone would have heard about Nicholaides, my poor head is starting to give up with all the info from the past few weeks. Professor Nicholaides is the leading foetal medicine expert in the world. He's the one who has come up with this whole nuchal translucency measurement and as such should know about the outcomes better than anyone else. He sees high women with high risk pregnancies at Fetal Medicine Centre on Harley St every Wednesday.

Have a very good day!

Thanks guys for all the info. I am getting an early anatomy scan @ 16 weeks (which is only a week away) and I guess that is the appt where they will look at the heart also. I have to double check and if its not, I will definitely demand to see a fetal echocardiologist.
I am writing from the U.S. --New Jersey.

ALso....spoke to my dr. today and when I went for my CVS test, the other doctors took the nuchal thickness and found that it was only 2.6mm. Now I don't know if they measured incorrectly at first or if it is seeming to resolve itself. Either way, I am still a nervous wreck...just like you are

Good Luck again and K.I.T

Dlynn, they might have measured it right and it's resolving, which it should if everything is ok. Ours is resolving as well but not that fast. Your cvs is ok and nuchal increase at 15 weeks less than 3mm, you must now have a very good chance for a healthy baby. Nerveracking it still is..