Hi Robin,

Doesn't sound good.  A 22q FISH is good.  I would also perform a cord
blood karyotype at the time of delivery.  Later...

Jerry 

-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Monday, January 22, 2007 2:13 PM
To: [log in to unmask]
Subject: fetus with ?truncus

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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