Professional
Technical
IVT
maternal PKU screening
Testing pregnant women for phenylketonuria to prevent maternal PKU syndrome in offspring.
Full Definition
Maternal PKU screening involves testing pregnant women for phenylketonuria to identify those who require strict dietary management during pregnancy. Uncontrolled maternal hyperphenylalaninemia causes maternal PKU syndrome in the fetus, resulting in intellectual disability, growth retardation, and congenital heart defects regardless of the infant's genetic status. This screening is particularly important for women of reproductive age who may have mild, previously undiagnosed PKU.
Usage
Usage note: Distinguish from routine newborn PKU screening in documentation.
In Context
- "Maternal PKU screening identified elevated phenylalanine requiring immediate dietary intervention." — Prenatal care report
- "The consequences of undetected maternal PKU can be prevented through proper screening and management." — Clinical guideline
Also known as
maternal hyperphenylalaninemia screening
Don't confuse with
newborn PKU screening
PKU carrier testing