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
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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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