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..

My story is not much differnt - Monday, at 11 weeks, I was told the baby had an NT measurement of 4mm and that at my age of 33, the baby had a 1/60 risk of a chromosomal defect. They scheduled me the next morning for a CVS andafter two days of an agonizing wait of crying and praying, we got a preliminary "normal" result. Today, at 12 weeks, went in for an extensive fetal echo, both transvaginal and outside...Dr measured every possible measurement of the abys heart and said the heart, from what he can see at this stage, looked great and blood was moving thru as it should, all 4 chambers, no holes, and oxygen getting to the brain. Obviously they will monitor the baby closely but tonight I will actually sleep and thank God for miracles. OH, and an aside, Tuesday the NT measured 3.5 and today, 4 days later, 1.9, so I have to ask, did it resolve or should I question the technicians? Either way, a good day...I wish you all reading this looking for hope a similar result...It does happen and more often than not from what I am told.

Hi, I've just come back from 20-week anomaly scan with this baby, who at 12 weeks had 5mm nuchal increase and horrific 1 in 2 odds for a cromosomal problem. All was fine, she measured normal, but when I was about to leave the fetal consultant mentioned that it might be not cromosomal but genetic disorder then . I can't believe this anymore! Came home and tried to google up genetic disorders, only cromosomal came up. Now very confused I'm thinking whether we should go back to Nicolaides. Does anyone know some common (are any of them common..)genetic disorders?

aiti72,

so sorry you are still having these issues/problems with finding a diagnosis ( or rather not having too).

i know my friends baby had a genetic disorder - but she is still to 'raw' to discuss anyhing so i dont want to intrude and ask.

Why dont you try ARC, it has helped my friend amazingly.

Cx

Hi aiti - I posted earlier in this thread as my baby had a genetic disorder. After a high nuchal, the CVS and all other tests were all normal and we only found out it was a genetic disorder once we had lost the baby and had a post mortem. I can't help too much with the possibilities for your baby but am very upset for you that you are not getting clear answers. All I can do is tell you about our boy... The nuchal was 13mm and he was very poorly. The 20 wk scan showed all his joints were fused together and he had developed fetal hydrops. It doesn't sound like your baby has any significant issues? Apologies if I haven't read your post correctly. The cause of my baby's problem was that DH and I have the same faulty gene which is quite rare. Well, everyone has faulty gene's but rare to have 2 people with the same one being faulty. So any baby we have has a 25% chance of inheriting both the faulty ones if that makes sense? So when that happens in our case it was fatal. I think my situation is very different to yours and hopefully you'll get some positives answers soon. So sorry you have ongoing worries. My heart goes out to you. Arc is a good place to contact but they may not be able to help with your quesions about the types of genetic abnormalities. I'd ask to be put in touch with a genetic councellor ...

I remember you, Chooster. I'm so so sorry for your little boy.

It makes sense to me how these genetic disorders come up, apparently we all have about seven faulty genes. What I don't understand is that the increased nuchal only (cvs, heart, structures, growth etc. all normal, nuchal resolved) means high risk for a genetic disorder. Wouldn't there be some other indication if the disorder in question is severe..?

I would have thought there has so be some indication of a problem on the other tests etc otherwise why would they be concerned . A high nuchal isn't a problem in itself, only an indication that a problem may exist. As I said before I was told that a high nuchal is no means a indicator that there is definately a problem. It was only after various scans that it became apparent that there was a genetic disorder with our boy.

I had to re-read your post as I'm so shocked that the consultant said this as a after thought and hasn't explained much to you. Can you contact them again or progress any lines of enquiry through your mid-wife. I'm so sorry that your pregnancy has been affected by all this worry.

I agree with Chooster - go back to the FMU and ask for a better explanation. If you are still npot happy then go and seek a second opinion but please go and see your consultant again. They owe you a full explanation.

Another good news story, to give you some hope. At 12 week scan, we had a 1:13 chance of DS, 1:51 chance of the other two and a risk of a heart defect. I was convinced that it would be bad news. The only thing that kept me going was we were told of a couple who had a 50:50 chance and all their results came back clear. We had to wait a week for the CVS test as I was bleeding internally and another week for results - longest 2 weeks of my life. Our CVS results came back clear. We then had two heart scans at Guys hospital at 15 weeks and 23 weeks and both came back clear. I was dreading my 20 week scan as I was convinced there must have been a reason for the high measurement and something else wrong but again all seemed fine. DD is now 6 months and perfectly healthy. Have everything crossed for all of you going through this atm.

Hello,

I'm new here--I just had a CVS done today and the doctor did an ultrasound as part of the procedure. (I am 37, so they scheduled the CVS as part of my routine care.)

The dr. said that my nuchal fold is 2.8, which is the high end of normal, but that he was concerned. He then said there was fluid around the baby's head that he was very concerned about.

Everything I've read indicates that 2.8 is not a number to worry about, but he seemed quite concerned. So I wonder if it was the fluid around the head that alarmed him. I actually can't find anything online about that. Has anyone heard anything about fluid around the head? He gave me the 10% statistic--that I have a 10% chance of something being wrong. While I know that's not a bad statistic at all, I'm still totally terrified.

Good luck to everyone as we go through this terrible wait.

hello, a very interesting thread! i am 37 and expecting #2, ds is 25 months.

with ds we had combined tests done at the birth company who use the FMC (downstairs) for blood testing, our results where 1:1200 and ds is a healthy and happy 2 year old.

pregnant again after a struggling ttc and a miscarriage, i signed up for the integrated test at uch... but had my combined (scan and bloods) done privately again at the birth company, results came back 1:2395 which we were pleased about...

i really uhmmed and ahhed about going to do the second lot of bloods for the integrated at uch, but ds was settling into new nursery and i had some rare spare time so went and had it done!!!! doohhh!

anyway results came back 1:120 from the integrated, cut off is 1:150 (1:250 for combined) so deemed high risk and the fetal midwife wanted me to go for an amnio that week!!! i was distraught.

went back to my private consultant and he did a more detailed scan on the heart.. this is the first thread i've read about heart scans so THANK YOU! and along with a prominant nasal bone everything looks okay and he is still confident my risk is 1:2000...

my gp said that the things about statistics is that 1:10000, 1:100, 1:10 or 1:1000 or whatever 1 is always going to be the 1! she just had a 20 something old woman who came back low risk give birth to a baby with ds...

anyway, we will not be having an amnio i spoke to the fetal medicine at uch again today, my risk of mc is actually higher than risk of ds.. plus she said that uch are stopping the integrated testing next year and only offering the combined...

it's all so confusing and worrying, i am with you all and one nervous wreck nevertheless....

i would be interested to find out if anyone else has had conflicting results! as soon as the fetal midwife knew i had done the combined privately she instantly said that they don't encourage 2 types of testing especially because of conflicts which makes me wonder how accurate these tests are!!

good luck everyone and thanks for sharing your stories

I personally would like to thank everyone on this forum who have contributed, it makes me feel I am not alone in all this. My wife is expecting our first child and we had our 12 week scan last week and it showed a nuchal transluceny of 10 mm. This has absolutely devasted us especially after finding out what that could mean. But one thing that did concern me, was the consultant wasn't being positive at all and after what I have read on this site and other sites, everyone is not downhearted as the consultant made out to be. Basically she spoke about termination and that hasn't even come into our thinking. And she also said that my wife will most likely miscarriage. Can the consultant be so sure after only the NT scan?
Wife has the CVS on Wednesday and I am hoping everything goes ok. We intend to continue with the pregnancy and let nature take its cause, whatever the results.

Thanking everyone again and fingers crossed for everyone with the same concerns as me

Hi Bhim. I had an NT scan 2 wks ago and was told I had an elevated risk. I felt pressured into having a cvs or amnio, however having spent the last 4 years ttc also a history of m/c, we felt the risk was too great and we are going to wait until the 20 wk scan. When we went back and told the hospital of our decision, they were surprisingly very supportive of our decision.

Its a very scary time, but my fear in the last 2 weeks has reduced massively and whereas 2 wks ago I was crying buckets and throwing up in equal amounts under the stress, I now feel at peace with my decision to watch and wait.

Good luck with the cvs and hope it all works out well

Hello Everyone
I posted on June 29th about my wife having a CVS and she has had her results today. Our baby is going to be a girl with Turners Syndrome. I am so happy about this, I just hope nothing happens now and my wife doesn't miscarry and we have beautiful bouncing baby.

Congratulation Bhim

There are other parents on here of girls with Turners as wells as women with turners.

I just really wanted to echo what needmorecofee said at the being of this thread.

I dosent really matter what extra needs a child come along with, you love them all the same .

Bhim - if you jump over to the special needs section - I am sure there are a couple of poster's who have children with turner's syndrome. They may be able to answer any questions you have.

HI, I posted on here about 2-3 weeks ago mentioning that my wife was pregnant with a TS baby, unfortunately today she miscarried. I was so looking forward to seeing her, I already miss her. I just want her to know that her mum and dad love her so much and I hope she is better happier place. I want to say thankyou to the people who wished her good luck, Thank you

I am so so sorry.

So sorry to hear that Bhim x

Thanks for all these encouraging messages. I am in the horrible CVS results waiting limbo

How wonderful that so many babies with increased nuchal thickness at 12 weeks turn out to be perfect and healthy. I am more optimisitic now all will be well with my baby.

RE: CVS Results

Hi

I would like to hear from anyone has had INCONCLUSIVE CVS results. I had the procedure at St. Georges in Tooting which is a great hospital and a great Fetal Medical Unit.

I am 37 on my second pregnancy.

The result came back after 4 days saying that approx. 40% cells contained Down Syndrome markers.

Going for baby heart monitoring and Amnio on 18th Feb.

Just hoping that markers are from me.

Looking forward to hearing any replies.

Hi Mary . I am no expert but from the little I know there's a possibility that your baby could have mosaic downs syndrome, where some, but not all of the cells contain an extra chromosome (T21). Babies with mosaic ds are usually less effected in terms of some of the health problems babies with this condition can have. There's also the possibility that the T21 cells are located in the placenta, and not in the baby (rare, but I've read about it) but I'm sure your consultant will go through this possibility with you.
Hopefully someone with a bit more knowledge will be along soon - didn't want your post to go unanswered - have been there myself with inconclusive amnio xxx

If I remember correctly when my friend had a cvs it mentioned that cvs didn't detect mosaics.

Hi Sunshine!

Just to set the record straight.

We had a chat with the Geneticist at the hospital and he did mention that what the result was referred to as, was a CHROMOSOMAL MOSAICISM.

Maybe when your freind had her CVS, the test wasn't as sensitive then.

Kind Regards

Mary (love your nickname by the way)

It is interesting that you say they are thinking of referring you for an urgent cardiac scan as one thing that an increased nucal fold measurement can be indicative of is heart defects. The focus is so much on down syndrome primarily and then other conditions like the other trisomies when in fact an increased nuchal fold can indicate a number of conditions.

My dd1's heart sounded fine at 12 weeks ( not nuchal translucency screening just dating scan) and even at 7 weeks when we had a scare and so were scanned to check all was okay.

At 20 weeks we learnt that she had a very serious (but very common and easily repaired heart defect). We were also told if she was born without down syndrome it would be very rare. We had no further testing like an amnio or anything like that. In being diagnosed antenatally we were prepared for her birth and subsequent medical care.

At 8 weeks old she underwent two open heart surgeries and her heart is like a 'normal' heart now. She simply requires annual check ups. We were originally told that she may need a small valve repair as a teenager but were told at her last appt that it was looking increasingly unlikely!

She is an incredibly active, fit healthy almost 7 yo.

roneypony they actually detected something wrong with dd1's heart at the 20 week anomaly scan and referred us to Harris Birthright Trust in London for fetal cardiac scans. I found that if they knew they was a possibility then the sonographers were pretty good at checking the heart out ( my other two dds are at risk of a congenital heart defect ( totally different to dd1's) from their father.

From our perspective having a child with down syndrome is not the end of the world but a door to a whole new amazing world.

Dd1 attends mainstream school, swims, starts dance class today and then is off surfing in a couple of weeks. Her language and speech is very good. She is amazing.