I am 10+ weeks pregnant with #4, have had 4 MMCs in the past, have known genetic problem that predisposes me to certain trisomies... oh, and there is the small matter that I am 43. I am scared and feeling that I am pushing my luck and as if the fact that I had 3 healthy DCs already means I am "due" a affected child. Irrational, I know, but there you go . CVS today was my 3rd, they needed 2 attempts, it was jolly painful (more so than the previous ones), but I have been fine since albeit slightly bruised feeling. DH is waiting on me hand and foot .
So, please send positive vibes our way. BTW, have namechanged for this because pregnancy is not yet public knowledge and know MNers in RL.
Thank you for all your messages. I went to bed just after I posted as I had been trying all evening NOT to post telling myself looking for good wishes from people I do not know is too needy for words . Who was I kidding? - I am needy!
Anyway, so far so good this morning. Feel a bit bruised at the site where they went in, but no bleeding, no pelvic cramp etc. Mobile is fully charge and will not leave my person today until I hear.
May I ask a question, please? Do you know what method the lab used to provide you with the results so quickly? How did they get to a chromosome count within a day? I have had some frustrating experiences with a lab where they have told me it is an impossiblity to get my results so quickly. I want to talk to them about the possibilities that appear opn to other labs but not to them.
Herbert, I was told the lab do a so called "direct preparation" first and do a QT-PCR from that. That allows them to check for trisomies, translocations (which is my issue) and gender. I was promised a result within 48 hrs which would have been Monday (tomorrow) but as before they phoned @ 4pm the day after I had the test done (Thursday morning). The cells are now being cultured and a full karyotyope of all chromosomes will be done from that. That result should be available in 10-14 days and I will get in writing. As this was my 3rd CVS I am not too worried about this as my major concerns (particularly trisomie 13 = Patau syndrome) have been addressed. It is may understanding that cells obtained via Amniocentesis always need to be cultured and that the result takes longer because of that.
Direct preparations from CVS are only suitable for chromosome counting (ie. you can count 46 chromosomes and identify the x and the y chromosome) but cannot be used to rule out other chromosome abnormalities. Since the same information can be gained by 2 other methods - QF-PCR (tends to be carried out in the London area) and FISH (tends to be carried out elsewhere) and these two methods are a lot cheaper to do than a direct prep, most labs do not get funded to do direct preps anymore. Amniotic fluid cells can also be tested by QF-PCR and FISH (again, for chromosome number (trisomy) and for number/type of sex chromosomes only) but must be cultured to provide any other information.