CVS results - how long does the full report take to come back?

[paranoidmummy]

I had a CVS on the 10th March. We had it as there was a 1 in 4 chance our baby would have a genetic hearing loss and not because of any markers picked up on the 12 wk scan. We got initial results of genetic test 3 days later which was amazing as had been expecting to wait a lot longer. They also gave us the results for Downs and Edwards and I believe 2 others. Forgive me for not knowing what but as these weren't the initial reason for the test I wasn't as concerned that these may be bad.

Anyway, luckily our resulkts were all clear which was amazing. I was so shocked I hardly listened to the rest of the conversation about the full report . Yet as the weeks have gonbe past I've been a bit concerned we still haven't had them. I did call and leave a message yesterday but no reply. Its been 2 and a half wks since the test. Does anyone know when we should get the rest of the results and whether they usually come by phone or post?

Thank you

Tests for specific gene problems (which I guess is what you are having) rather than karyotyping chromosomes (which is what most people would mean by full report) take different amount of time to do depending on the complexity of the test and also on the quality/quantity of DNA that they get from the CVS. Sometimes they get enough from the original sample (which is how they test for Downs/Edwards in most places now), and sometimes they have to grow the cells to multiply them and get lots of DNA (just growing the cells can take 2 weeks) and then carry out the test.

I would keep phoning!

Hi

You should get the result 2 weeks from the date of the testing.

I have had both a CVS and an Amnio and the we got both final results 2 weeks later. The Geneticist called us with the results. He then sent a follow up later a few days later detailing all the results, etc.

It is really bad that you have had to chase the final results. They should be aware how worrying a time it is waiting for news. If and when they do call back and there is no good reason for the delay, I would take issue with them.

We had our results from St. Georges in Tootin, London.

Hope you get news soon.

Mary

Hi

In my previous post later should read letter and I missed the 'g' at the end of tooting! (doh).

Hi PM - am I right in saying that, your baby does not have a genetic hearing loss. If so, I am happy that you got the good news.

I was just curious, as you are the first post where I have heard mention the fact that a hearing loss can be picked up from genetic analysis, such as CVS.

Hi mt, Yes, in our case ds2 was born profoundly deaf. No history in our family etc but we were geneticall screened. He came back as having 2 faulty connexin 26 genes (causes deafness) so my husband and I were both tested and we carry the recessive gene, therefore 1 in 4 chance of any future babies having the same.
We had the test done purely for that as I couldn't spend 9 months dreading the newborn screening, I needed to know eithyer way. Luckily, she came back clear. I suppose as they knew what gene they were testeing for they analysed it pretty quickly. The downs etc, whilst obviously terribly important was not high risk in our case so I suppose now we have had the all clear on the most common problems they see us as low risk. So just waiting on the full karotype, I know i have no reason to think anything should be wrong but I will feel much better when I have had the call confirming that!! Will call again tomorrow. Thanks for your help xXx

Oh, I thought you were waiting for the connexin results not the karyotype - sorry. Average time for karyotype is 8-14 days but in your case they would have used up some of the cells to do the connexin test and only use the 'leftovers' for the karyotype so they may have to grow them for longer.
And in some parts of the UK they don't do the full karyotype unless there is a high risk of chromosome abnormality but I guess they would have told you that already.
Great that you have the all clear for connexin though

Millarkie - thank you so much, you are a wealth of knowledge Do you work in genetics? I won't start hassling them then if it can take that long. As you say, the full karotype is not our initial reason for the test and nothing to indicate there should be a problem. I just like to worry! Until those results are in my hand I don't think I'll quite relax! If it counts for anything our genetics team have been FANTASTIC and I couldn't rate them high enough so I would feel a bit mean if I start bvombarding them now.
Yes, it was amazing news on the connexin, I could not believe it when I heard! It still brings a lump to my throat when I remember that call! It was so unexpected. I'd just resigned to the fact she would be affected. Maybe time I start to live more positively! ;)

Used to work in prenatal testing . Do hassle them though, it has been 2 and a half weeks!

Thanks for your help millarkie. She phoned first thing with results bless her! All clear Yay xXx

Hi PM

Glad to see that you got the all clear! It's interesting to know that genetic hearing loss can be detected before birth. Amazing. As you say, you now have peace of mind and can relax for the rest of your pregnancy.

I am sure the your kids can't wait for the new arrival!

Take care x

Hi PM

Glad to see that you got the all clear! It's interesting to know that genetic hearing loss can be detected before birth. Amazing. As you say, you now have peace of mind and can relax for the rest of your pregnancy.

I am sure the kids can't wait for the new arrival!

Take care x