Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management

Conclusion: More frequent phenylalanine measurements during late first trimester are crucial to improve outcomes in treated pregnancies. In order to prevent untreated pregnancies via detecting undiagnosed adults, countries where significantly many women of childbearing age were not screened as newborns may consider pre-pregnancy PKU screening. Microcephaly in the newborn should prompt screening for PKU in the mother.What Is Known•Untreated phenylketonuria during pregnancy causes maternal phenylketonuria syndrome in the newborn.•Effective treatment throughout pregnancy can prevent adverse fetal outcomes.What Is New:•Metabolic control is related to frequency of follow-up and worsens during late first trimester. Closer follow-up during this period may improve metabolic control.•In order to prevent untreated pregnancies,pre-pregnancy phenylketonuria screening may be considered if many women of childbearing age were not screened as newborns.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research