Hi everyone,
I wondered whether anyone had any personal knowledge or personal experience of carrying a mosaic genetic condition?
I am currently 8 weeks pregnant following a loss of my first child at 33 weeks earlier this year. Several months after the loss genetic testing began, although there was only one gene they thought may be linked to the issues our son had, and this gene is very rare - everyone was confident it wasn't genetic basically.
Earlier this week we received our results. It turns out our son did have the rare genetic condition, and that it has been passed on from myself. I obviously never knew I had this condition, and that is because I have been asymptomatic due to my condition being mosaic.
I have been told that in regard to my current pregnancy there is up to a 50/50 chance the baby will be affected. However, it is complicated as my mosaic condition means they only found 17% of the mutated copy of the gene in my blood cells - so the majority are healthy.
They said it depends how much of the mutated copy is in my ovaries, but they are confident it must be low going off the low number in my blood cells, which also means they think the chances of passing the gene on again is unlikely, but obviously not impossible. We are awaiting a date for a CVS.
I just wondered if anyone else had a mosaic genetic condition and could explain what this meant in terms of passing the gene on to their own children? I've been reading research everywhere, but struggling to read much about mosaic parents. Thank you so much for your help 💙