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Communication for the Heartland Regional Genetics Group

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Subject:
fetus with ?truncus
From:
"Troxell, Robin M." <[log in to unmask]>
Reply To:
Communication for the Heartland Regional Genetics Group <[log in to unmask]>
Date:
Mon, 22 Jan 2007 14:12:44 -0600
Content-Type:
text/plain
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Hello-
I have an 18 year old patient whose quad screen was +for T18 with >1/5 risk.  All four analytes low.  Amnio normal.  Ultrasound at 24 weeks showed some heart defect, probably truncus, as well as clenched hands, and single umbilical artery.  I am having the lab add 22q FISH, anything else worth testing for at this point?  Termination is not an option.

Thanks 
Robin
************************************
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health
Mercy St. John's Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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