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

Karen,
Thanks  again. First off before I share his problems. They have already told
me they will do no surgery on Jonah becasue he has trisomy 18. Which I think
in some respects is crazy but my husband and I already decided for comfort
care before they told us this. But I cannot imagine for a family who wanted
intervention what they woulddo. The mosaicism if it is the case I don 't
know ifi it would change our decsion we will cross that bride when we get
there. Day to day is about all I can handle at this point.
Jonah has a large herniated belly (omphaloce) sp? with bowel, liver and
possible stomach. 3 heart defects,double outlet right vent., pulmonary
atresia, and one other I cannot remember the name of, he has cysts on his
brain, something up with the cisterna magna, Odd shaped head, possible
skeltal dysplasia(overall bone structure is not right eg formation of rib
cage is off,) thoraic is in the 1% for gest. age, limbs are 1 % for gest.
age. He either is missing or has highly underdeveloped radial bones in his
arms with clubbed hands, they couldn't really get a picture of his lips and
nose, he is very small for his gest. age, there are other things but they
said they are less definate but the above things they said were pretty clear
and the others not so clear. We all know there are things thy cannot see on
an ultrasound. I have to realize that his chances for survuvil are slim.
MOst of the kids I read about that survive have for the most part minimal
life threatening problems. I am not trying to be negative just realistic.
Honestly the comfort care was out of a desire to really be with him if he
survives birth instead of hooked up with machines and tubes only to die in
surgery. I want my baby in my arms not being poked and prodded. If he
survives past the first week then I will push for what we think is best.
Thanks so much for your time and effort. I am going to call the docotors
tommorrow and start down the road of asking. It may not change the out come
but I just want to know the truth about this

Blessings,

Sandi mom to (Journey 23 months ) &
Jonah Ethan T18 due 7/11/02
----- Original Message -----
From: "Karen Schuler" <karens@xxxxxxxxxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Sunday, March 24, 2002 1:52 PM
Subject: [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
>

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

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