CVS preliminary results negative, anyone then had further problems following full report?

[pia78]

Hi there, I'm hoping someone might have had a similar experience to shed some light on this awful purgatory of waiting and possible chromosomal defects...

I recently had a CVS following my NT scan which gave me a 1:50 risk of downs..largely due to the bloods (Papp-a 0.3760, Hcg 1.2). I received THE phone call yesterday clearing me of downs and trisonomy 13, 18... PHEW and THANK GOD. However they did emphasise that this was only a preliminary result and that Id have to wait another 3 weeks for the final results to come through.

I was wondering if anybody has had a similar experience, and what further problems could be in store? Has anyone had a negative result but then gone on to have further problems? I have read that low Papp-a could mean developmental problems, premature or heart problems?
Interested to know what other defects the full test picks up..

Any advise much appreciated!

Hi - sorry to hear you are in this position, it's awful.

I didnt have CVS but had amnio - our downs risk was 1:13 so higher than yours and this was picked up at 15 week quad blood test so I didnt have the nuchal measurement.

Initial results came back clear so we were very relieved but then full results came back showing a very rare chromosomal unbalanced translocation. The prognosis was extremely poor so we felt our only option was to end the pregnancy.

There are a huge number of chromosomal abnormalities other than the most common 3 trimsomies but they are very rare. It is much more likely that the full results will also come back clear.

I dont know much about the likelihood of other problems, someone else may come along to give info about this. But remember there is every chance that all is well. I'll keep my fingers crossed for you.

I had a 1:15 risk of down syndrome and both the initial results and full results were clear. My understanding is that the chance of a problem in the full results are very very very rare. My hospital don't even offer the full karyotype, I had to pay for it!! I also had low Papp-a 0.39 and bhcg 1.65. The only possible concern with low Papp-a is growth issues but this is not likely and there is very little research to even indicate a possible link. Antenatal results and choices can give you detailed info.

My little boy is now 9 months old. When he was born he was >75th centile so no growth issues.

As for heart problems these are a possibility for babies with a high nuchal fold reading, not low Papp-a. Hope that helps.