Mosaicism

[seven gorgeous babies]

Hi carole

I never thought to ask you on this forum about this and I have been worrying for weeks.

I am currently 16 weeks pregnant with twin girls through pgd at genesis in Cyprus.

Just before Christmas I got a call to say my 12 week nuchal combined risk has come back as downs high risk.
My nuchal was fine I think at 1.9 and 2.1 mm at 13 days 1 day but my free beta hcg is 5.73 mom which is obviously why I've put in high risk.

My consultant says the chances of a superior embryo both of which were hatching at 4.5 days past retrieval been a mosaic are remote.

But I'm still panicking.

I have a soft marker scan on Thursday so that will hopefully help reassure me, but just wondered if you had any opinions or advice.
My clinic dont know I did ivf and actually have me 5 days ahead of my true dates so not sure if that has any affect on my bloods x

Thanks in advance

[nuthinbutpink]

I think odds are largely in your favor. It seems that the odds of both the test being wrong and a downs embryo making it this far would be huge. I can't imagine your worry and I hope the scan brings welcome news!

[Carole]

Dear five gorgeous babies,
I am so sorry you are having so much worry now! I have no medical expertise regarding nuchal folds etc. and I wouldn't dare give you any advice regarding that. However, I will share with you that when I was pregnant, the nurse recorded the wrong gestational age and that information combined with my blood result resulted in a MUCH DIFFERENT interpretation of what the blood result meant. The wrong dates combined with my blood level suggested that my baby was high risk for downs. When the right date was used, the blood values were NORMAL for that gestational age. Please share with your doctor the actual dates so that they can properly interpret the labs. I hope that sorts it all out. Wishing you all the best, Carole

[seven gorgeous babies]

Thankyou I did wonder how much difference these 5 days made to my bloods.

Do you have any info on the possibility of mosacism reading a cell as normal when in fact the other cells were abnormal?
This is my major panic at the moment. That a mosaic embryo has been transferred back been mistaken as normal?

Thanks xx

[Carole]

Mosaicism is a well-known risk of PGD or PGS, especially when only one cell is sampled as is done in day 3 biopsy. Most clinics are culturing embryos to day 5 and taking 4-10 cells from the blastocyst stage embryo precisely to decrease the risk significantly that a single sampled cell won't be representative of the genetic condition of the rest of the embryo. You can ask your clinic or genetic testing lab for more information on the mosaicism risk with the procedures that were used for your case. The consent forms you signed may have given you a probability estimate of the risk of mosaicism with the techniques used. At this point, try not to get too upset, it will not help and you are already taking steps for additional testing.
Good Luck!!,
Carole

Thankyou I did wonder how much difference these 5 days made to my bloods.

Do you have any info on the possibility of mosacism reading a cell as normal when in fact the other cells were abnormal?
This is my major panic at the moment. That a mosaic embryo has been transferred back been mistaken as normal?

Thanks xx