Koch Richard, Hanley William, Levy Harvey, Matalon Kim, Matalon Reuben, Rouse Bobbye, Trefz Frederick, Güttler Flemming, Azen Colleen, Platt Larry, Waisbren Susan, Widaman Keith, Ning Jiaping, Friedman Eva G, de la Cruz Felix
Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USA.
Pediatrics. 2003 Dec;112(6 Pt 2):1523-9.
The purpose of this report is to review the obstetric medical, psychological, and nutritional aspects and outcome of the women and offspring enrolled in the Maternal Phenylketonuria Study, which was established to assess the efficacy of a phenylalanine (Phe)-restricted diet in preventing the morbidity associated with this disorder.
A total of 382 women with hyperphenylalaninemia (HPA) were enrolled in the study and completed 572 pregnancies. Outcome measures were analyzed with chi2, Fisher exact text, analysis of variance, t test, Wilcoxon nonparametric test, and multiple logistic regression. Outcome measures were stratified according to maternal HPA classification and the time when dietary control was achieved.
Optimal birth outcomes occurred when maternal blood Phe levels between 120 and 360 micromol/L were achieved by 8 to 10 weeks of gestation and maintained throughout pregnancy (trimester averages of 600 micromol/L). Mothers with mild HPA achieved similar birth outcomes as mothers who were in control preconceptually and those in control by 8 to 10 weeks of pregnancy.
Before conception, counseling and early entrance into a prenatal care program is essential in achieving optimal fetal outcome in women with HPA. The achievement of pre- and periconceptional dietary control with a Phe-restricted diet significantly decreased morbidity in the offspring of women with HPA.
本报告旨在回顾参与母体苯丙酮尿症研究的女性及其后代的产科医学、心理和营养方面情况以及结局，该研究旨在评估限制苯丙氨酸（Phe）饮食在预防与该疾病相关的发病情况方面的疗效。
共有382名高苯丙氨酸血症（HPA）女性参与了该研究，并完成了572次妊娠。采用卡方检验、Fisher精确检验、方差分析、t检验、Wilcoxon非参数检验和多元逻辑回归对结局指标进行分析。结局指标根据母体HPA分类以及实现饮食控制的时间进行分层。
当妊娠8至10周时母体血液苯丙氨酸水平达到120至360微摩尔/升并在整个孕期维持（各孕期平均水平为600微摩尔/升）时，可实现最佳出生结局。轻度HPA的母亲所获得的出生结局与孕前已控制病情的母亲以及在妊娠8至10周时已控制病情的母亲相似。
在受孕前，咨询并尽早进入产前护理计划对于实现HPA女性的最佳胎儿结局至关重要。通过限制苯丙氨酸饮食实现孕前和孕早期的饮食控制可显著降低HPA女性后代的发病情况。
