Recommendations for Maternal Phenylketonuria (PKU)
- All women and girls of childbearing age with elevated phenylalanine (Phe) levels should be identified and counseled about the effects that high Phe may have on a fetus.
- Pregnant women with high Phe levels should be offered tests to detect fetal problems.
- A woman should have a blood test for PKU if her child has features that suggest the mother had high Phe levels during pregnancy. For example, her baby may be born with a very small head (microcephaly) and heart problems.
A woman who has PKU and is considering pregnancy or is pregnant should:
- Committee on Genetics, American Academy of Pediatrics (2008). Maternal phenylketonuria. Pediatrics, 122(2): 445–449.
- Kaye CI, and the Committee on Genetics, American Academy of Pediatrics (2006, reaffirmed 2011). Phenylketonuria section of Newborn screening fact sheets: Technical report. Pediatrics, 118(3): e956–e957.
Last Revised: September 8, 2011
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