[tri-med] Newly diagnosed Trisomy 18

Hi Folks

My wife is 27 weeks pregnant with our first child. An intensive ultrasound
revealed the very real possibility that our daughter, Caris has trisomy 18.
The ultrasound showed that Caris has suffered a diaphragmatic hernia which
is causing her stomach to grow in the chest cavity. This would also account
for the vast amount of amniotic fluid in the uterus. The presence of the
stomach in the chest has caused her heart to be displaced to the right and
stunted the development of her left lung. Her heart has, however developed
perfectly and would appear to be very strong. She also has the crossed
fingers, receding jaw and prefers to lie cross-legged.

An amniocentesis has subsequently confirmed our greatest fear. The probe for
Trisomy 18 came back positive and we await the full genetic testing results.
These will hopefully confirm the extent of what we believe to be a
mosaicism. We were told that the prognosis for this condition is very poor
with the vast majority of patients dying within the first few days of birth.

We are committed to carrying Caris to full term. The big question at this
stage is how much postnatal treatment/surgery we are willing to allow/offer.
We are told that the diaphragmatic hernia will need to be repaired soon
after birth, but that there is no point if she has trisomy. Much of the
reading I have done so far would seem to support this, with most suggesting
only supportive treatment. I was, however relieved to find this site and the
real hope that there seems to be for trisomy patients - although I don't
know that these cases are as severe as Caris'.

Anyone with a similar situation or knowledge of children with this extent of
trisomy?

Regards
Rory




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

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