CVS Results and Follow ups

[Yinyang87]

Hello,
At my 12 week scan I had an NT measurement of 3.3mm. My combined screening came back as 1 in 5 for Downs syndrome and 1 in 150 for Patau's. I went for a CVS and the wait was agonising. During that time I did all the research and reading that I could on the subject.

I got a call today telling me my results for the rapid test (for the 3 trisomies) are all clear. I am very happy to get this news!

However I was under the impression that the hospital would also be doing further testing for other rarer chromosomal abnormalities (which would require a further 2 week wait) but the hospital have said they will now not be doing further testing as my PCR results are all clear.

With all the research I did during my wait I read a lot of parents receiving a first result for the rapid test and then a second set of results to check for other chromosomal abnormalities. There is history of a rare syndrome on my husbands side so just wondered whether anyone has a similar experience?

I'm obviously relieved about my pcr results but cant help but feel a little anxious also. Thank you all x

Sorry to hear you're going through this. It's so stressful. I'm pleased the quick results didn't give any bad news but I can understand the worry. We had the full karyotype analysis done years ago, but our NT was much higher than yours, so they knew something was up even with the good news from the first set of tests. I think it's reassuring that they don't feel the need to investigate further, but I would also be anxious because it's such a stressful situation to be in.

Maybe it's because your NT is still within the normal range (I think it was up to 3.5mm?)? In my other pregnancy our NT was 3.2 or 3.3mm and we did amnio again, and we only got the results for the three main trisomies and they were happy to leave it at that. It's really hard to work it out, isn't it! I would ring the FMU and ask about it just to put your mind at rest. I found that when things were explained to me at the appointments I immediately forgot what they said and had to keep calling them and asking for clarification. But they were always so happy to answer my questions. I hope all goes well for you.

I am sorry you are going through this too, I am so glad you had positive news. I had my CVS on Monday and still waiting for the results but they did tell me that as NT measurement was below 3.5 they are not concerned about rarer anomalies and won't carry out the full analysis. They did book me in for a more detailed cardiac scan at 20 weeks though to look for any structural abnormalities.

Did the measurment of 3.3mm was considered high risk? I got that number today and they told me that it was bit on the high end but still in norm (didn't go over 3.5mm).