[tri-med] Re: testing of cells results/Karen

----- Original Message -----
From: "Aaron & Sandi"
> FINAL CYTOGENETIC ANALYSIS:
> 47, XY, +18    (5 cells)

Wayyyyyyyyyy to few cells to detect mosaicism!!!!!!!!!!
Look at the statistical odds - to pick up any mosaicism you would need at
least 20% or greater of the cells to be "normal" (or "abnormal" - whichever
way you look at it)
A minimum of 20 cells preferably 100

> Cytogenetic analysis of cultured amniotic fluid at 400-450 band resolution
> showed a male karyotype with an extra chromosome 18. This finding is
> diagnostic of Trisomy 18 syndrome.

Yes - this is because all 5 cells of the g-banding showed T-18. That is the
result that they base the diagnosis on - NOT the FISH test. The FISH test
(which BTW is also small in number - seems to be a cost cutting lab) results
with small number of cultured cells is enough for me to say I would be
questioning this result big time and that they should have immediately
tested more cells to check mosaicism. At the very best this is an
inconclusive result.

>Also I live in Canada not the US so I do
> not know if how they do things here is different then there.

Cytogenetic practices are pretty much universal.

> I thought testing 5 cells from the full amnio (cultured) results seemed
> small but I thought it was becasue the FISH test they did 100. Should they
> be testing more cultured cells??

Its way too small. They should definitely be testing more cells or at the
very least be saying probably mosaic.

> I am alittle nervous about asking for retesting here becasue medical is
very
> different then in the states(I am an american living in canada).

You can still have the test redone even in Canada. In fact the ambiguity of
the results almosts demands that it be redone.

I think the biggest thing to look at at the moment is your babies health and
the problems he is showing. The problems that they have picked up are
probably a lot, but how many are cosmetic, how many are "fixable" and how
many are life threatening?? Remember too that ultrasounds are only a
screening tool, they are NOT definitive. It is only after birth that they
can fully assess the health status of a baby. Its amazing the number of
problems predicted on ultrasound that "disappear" or at least are not as bad
as they first thought between detection and birth.

What exactly are they predicting? I know that you have probably already told
everyone but I am wayyyyy behind on mails....... sorry!!!!

Man must not allow the clock and the calendar to blind him to the fact that
each moment of his life is a miracle and a mystery.
- H. G. Wells

Keep Looking for Rainbows!!!
Karen, Mum to Alex (7, T-18 mosaic)
Sydney, Australia
http://members.optushome.com.au/karens
http://www.trisomyonline.org

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

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