INCONCLUSIVE CVS RESULTS

[marytheresa]

Hi

I was directed to the SN section by a member from the Pregnancy section, who mentioned I could get some information about Mosaicism for memembers in this section.

I am 37 and 13 weeks with my second baby. we had an inconclusive results from the CVS saying that approx 40% of cells contained markers for Downs. So they could be contained within my DNA but can't be certain .

The 12 week scan showed that the nasal bone was present and all other measurement with baby were within normal range.

I was just wondering if anyone had any experience of an inconclusive CVS. I've been in contact with ARC who have sent my some info etc.

Looking forward to hearing any replies.

Kind Regards

Mary

Hi Mary

Have you had blood tests now? Have you seen a genetics counsellor?

I have a chromosome abnormality (balanced translocation between chromosomes 5 and 14). It does not affect me in way. I've had cvs in pg. Not had a mosaic result though.

So for your results, approx 60% show normal chromosomes and 40% trisomy 21 (DS)? Personally, I wouldn't be too frightened by that. However, it is very tricky to say how that would affect yr child. My understanding of your post is that you could also have this and be completely unaware of it? Have you contacted the Down Syndrome Association?

www.downs-syndrome.org.uk/

They have a helpline open Monday to Friday, 10:00 a.m. to 4:00 p.m: 0845 230 0372

Wishing you all the best for yr pg and beyond x

Hi,

Are you within the time limit to have another CVS? I think it's up to 13+6 weeks.

I had an inconclusive result from my first CVS as well due to mosaicism and from what I understand, it's when they get too much of the mother's cells instead of the baby's so they cannot grow enough of a sample to get a result but I could be wrong.

The doctors were very apologetic about it and offered me another CVS straightaway. I had a second CVS 5 days after the first one. I was told that the risk of miscarriage DOES NOT increase even with me having a second invasion test within 5 days. They even rushed my results and I got the results within 2/3 days of the test. DS is now a really cheeky NT 11-month-old... GL!

Ax

Hi

Thanks so much for your quick responses.

The hospital didn't offer me another CVS test, not sure why. I haven't been offered any blood test, although I suppose they would confirm that the mosaicism was in my DNA.

My hubby and I have had a chat with the Geneticist at the hospital who explained our results. He said the only way to know for sure if they were confined to the placenta was to have an Amniocintesis, which will take place on the 18th Feb. We are also having the baby's heart monitored to check for any abnormalities.

I am beginning to wonder if too much information is a bad thing!

It is good to know if there is something wrong with the baby and you can prepare yourself for the outcome, and any heart defects are detected before the baby is born. But it is when the results are not concrete that it really messes with your mind, and therefore can cause stress to you and the baby, which you don't really need.

Thanks for the link to the DS Organisation, I give them a call.

Cheers

Good luck! I really hope you get some good results... It's horrible isn't it? Just having to go through the waiting and wondering... TBH, even when I got the all-clear, I still worried about the baby as there are so many other things that could go wrong... Take good care of yourself!

Hi Angel

Thanks for the Good luck message, it's nice to know that people are thinking of me.

This is a great site.

I'll keep you posted. Have to wait til 18 feb for amnio then not sure how long after that I'll get the results.

Thanks again to everyone for their support!

Mary

Mary I hope the outcome of your amnio was a positive one.
I had a cvs on May 22nd because the hormone tests they did on my blood indicated I had a 1 in 6 chance of carrying a baby with DS. The initial results from the CVS indicated that trisomy 21 chromosome was present. However the scans (12 week and just before CVS) haven't indicated any signs of DS and the baby looks viusally very active, so we are now waiting to hear about the results on the karyotype cells in the lab. They may come back to us by next Thursday, but could take up to a week longer. Apparently it's rare for the lab to ask a patient to wait for the second lot of tests before giving a conclusive result. Waiting for the test reults is so hard.