[tri-med] Re: mosaic vs. full trisomy

----- Original Message ----- 
From: "Barbara Farlow" <b_farlow@xxxxxxxxxxx>
 So if they test by umbilical blood- how
> significantis that?

I really don't know the answer to that.

I am aware that using an amnio for testing can show false mosaic positives 
if:
a. there was a prev trisomy pregnancy and some of the cells are still 
hanging around in the womb
b. the mom may be an undiagnosed mosaic and some of her cells show up in the 
amnio
(there's a theory that mosaics live among us, not ever diagnosed as they 
don't have any (or few) 'symptoms' of a genetic disorder.

Umbilical blood??????  I have no idea.

Both of Alex's tests were from a  vein blood draw.
Jim and I were tested the same way. We both showed a normal complement of 
chromosomes.

  But then, if I understand from what Karen
> wrote, it really doesn't matter anyway, as some mosiacs can be more 
> affected
> than full, it's like a lucky (or unlucky) draw.

Yes, there are those affected more severely (mentally, physically, 
medically) who have a mosaic diagnosis than those with a full diagnosis. 
Again, that most likely goes to how many tri-cells make up the 'important' 
life giving parts.
Crazy isn't it????????

That said, even with a mosaic diagnosis the ob/gyns still advise 
terminations. It's still an 'incompatible with life' diagnosis.
Unfortunately, that diagnosis generally is correct.
But we all know exceptions to the rules.  :0)

Bottom line, you just don't know exactly what the situation will be until 
the baby is here.

Michelle mom to Alex (19, partial trisomy 14 mosaic) and Molly (15)
MichiganUSA 

                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

Other related posts: