CVS PCR results - is something missing?

[Bellsy2206]

Hi all, I just received my CVS results from King's today and in the report they say X-chromosome: consistent with a normal X-chromosome complement and No major Trisomy or X-chromosome aneuploidies detected in this fetus - but there is no mention of Y chromosome at all. Are both tested or does this mean I am pregnant with a girl? Just worried I'm missing something! Thanks.

[LeMousquetaireAnonyme]

I don't think they PCR the Y chromosome, as it a XYY diagnostic is not life threatening and create a healthy baby.
The PCR it is partial results. You should have the kariotype in a few days and you will know for sure. If you don't want to know call them and ask them to hide the results for you.

[Bellsy2206]

I've had the Karyotype result and and it says No major chromosome abnormalities detected although it also says Cultures have been set up for karyotyping???- and when they phoned through the results they said they'd done the XY chromosome testing, but as there's no mention of this at all on the report - I am sooooo confused!!

[LeMousquetaireAnonyme]

PCR is a quick test which shows no problem in your case which is good
For the karyotype they should send to you a sheet which looks like the 1st picture here. Do you have it? If not, it means that the test is not finished, it takes 2 weeks to get the results for that.

[Bellsy2206]

Oh fantastic! Thanks so much, that is a great help. No, I don't have that just the typed report. That's brilliant, thanks for your help!!

[cheesetoastie]

If you had the CVS due to a high nuchal measurement then the PCR test will be looking for the three major trisomies 21(DS), 13 and 18 and also for a monsomy ( missing ) X chromosome ( turner syndrome). They will count the sex chromosomes but most places do not put in the report whether the 2 sex chromosomes are xx or xy.
The full karotype takes 10-16 days to do and most places will not send out a karyogram (picture of the chromosomes) but a written report saying 46,xx or 46,xy (assuming nothing abnormal was seen)

[cheesetoastie]

Lemous.. Have you actually had a cvs in the uk and been sent a karyogram as a result? Interested because I used to work in this field and I have only seen written reports sent.

[LeMousquetaireAnonyme]

No mine wasn't in the UK.

[Bellsy2206]

No it wasn't due to a high nuchal measurement (1.8mm) it was due to blood results following the scan - high HcG levels. That's great though to know I will be receiving more from them, thanks to you both for your help and advice :)

[cheesetoastie]

Most hospitals in the london region are only funded to do the PCR test unless there is an increased nuchal measurement (or worries raised at an anomaly scan), but i don't know for certain what Kings do. As your results say that cultures have been set up for karyotyping i would assume that you will get a full karyotype test too. Hope all goes well.

[Sparklies]

I had a boy and I received exactly the same letter as you from Kings and no more than that. I had The Phonecall the day after the test to tell me all was fine according to PCR, then two weeks later I had that letter. That was 10 weeks ago (had amnio at 32 weeks) and I've had nothing since so I think that is all they send! No cool diagram either.

If it's any consolation it confused me too.. especially that last bit about the cultures being set up. Really weird. Anyway, I took it to mean all was fine and indeed, all does seem to be fine as he is six weeks old now :)