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The challenge of maternal phenylketonuria screening and treatment
1Department of Gynecology and Obstetrics, Johns Hopkins University, School of Medicine, Baltimore, MD 21205.
Insights
Women treated for phenylketonuria (PKU) in childhood are now reaching reproductive age. This review examines the risks of childbearing for these women, as untreated maternal PKU can cause developmental issues in offspring.
Area of Science:
- Medical screening
- Genetics
- Public health
Background:
- Newborn infants have been screened for phenylketonuria (PKU) since 1961.
- Medical therapy for PKU is typically discontinued by age 6.
- The first cohort of females treated for PKU has reached reproductive age, with annual additions.
Purpose of the Study:
- To review the implications of childbearing in women treated for PKU during childhood.
- To highlight the risks associated with untreated maternal PKU.
Main Methods:
- Literature review of studies on PKU treatment and outcomes.
- Analysis of data concerning women of reproductive age with a history of treated PKU.
Main Results:
- Untreated maternal PKU can result in significant developmental impairments in utero.
- The long-term reproductive health implications for women treated for PKU require ongoing assessment.
Conclusions:
- Women with a history of treated PKU require careful management during pregnancy.
- Further research is needed to fully understand and mitigate risks for offspring of mothers with treated PKU.
Abstract:
All newborn infants, male and female, have been screened for phenylketonuria (PKU) since 1961. Medical therapy is generally continued until age 6. The first cohort of treated females reached reproductive age 15 years ago, and new members are joining this cohort annually. This paper reviews the implications of childbearing in women who were treated for PKU as children and are no longer under treatment. Untreated maternal PKU can lead to mental retardation in utero.