The international study of pregnancy outcome in women with maternal phenylketonuria: Report of a 12-year study

Lawrence D. Platt, Richard Koch, William B. Hanley, Harvey L. Levy, Reuben Matalon, Bobbye Rouse, Fritz Trefz, Felix De la Cruz, Flemming Güttler, Colleen Azen, Eva Gross Friedman

Research output: Contribution to journalArticle

66 Scopus citations

Abstract

OBJECTIVE: The purpose of this report was to update the results of the Maternal Phenylketonuria Collaborative Study, which was established to assess the efficacy of a phenylalanine-restricted diet in preventing morbidity among the offspring of women with hyperphenylalaninemia. STUDY DESIGN: During a 12- year period 576 women with hyperphenylalaninemia were enrolled in this study. Outcome measures were stratified according to classification of maternal hyperphenylalaninemia and the time at which dietary control of phenylalanine level was achieved. RESULTS: Optimal physical and cognitive fetal outcomes occurred when maternal blood phenylalanine level <600 μmol/L was achieved by 8 to 10 weeks' gestation and maintained throughout pregnancy (trimester average, ≤600 μmol/L). CONCLUSIONS: The achievement of blood phenylalanine level control through a phenylalanine-restricted diet significantly diminished the occurrence of congenital abnormalities among offspring of women with hyperphenylalaninemia and improved early intellectual progress of these offspring. (Am J Obstet Gynecol 2000;182:326-33.).

Original languageEnglish (US)
Pages (from-to)326-333
Number of pages8
JournalAmerican journal of obstetrics and gynecology
Volume182
Issue number2
DOIs
StatePublished - Jan 1 2000
Externally publishedYes

Keywords

  • Congenital defects
  • Fetal development
  • Maternal phenylketonuria
  • Mental retardation

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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    Platt, L. D., Koch, R., Hanley, W. B., Levy, H. L., Matalon, R., Rouse, B., Trefz, F., De la Cruz, F., Güttler, F., Azen, C., & Friedman, E. G. (2000). The international study of pregnancy outcome in women with maternal phenylketonuria: Report of a 12-year study. American journal of obstetrics and gynecology, 182(2), 326-333. https://doi.org/10.1016/S0002-9378(00)70219-5