Genetic metabolic disorders

Women with genetic metabolic disorders have unique concerns during pregnancy. Maternal phenylketonuria (PKU) is the disorder for which the most is known; it requires careful management and monitoring by an interdisciplinary team with experience managing pregnancies of women with PKU. Without treatment, pregnancy outcomes for women with PKU are poor, and often include microcephaly, mental retardation, severe cardiac anomalies, and other congenital defects. (Walter, 2000)

Pregnant women with genetic metabolic disorders should be referred to a specialty care center for management. In Washington State, a referral should be made to the University of Washington PKU/Biochemical Genetics Program (206-598-1800). A national list of centers that treat genetic metabolic disorders can be found at the National Newborn Screening and Genetics Resource Center (http://genes-r-us.uthscsa.edu/); some may provide maternity support services.