Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.
作者： Bobbye Rouse , Reuben Matalon , Richard Koch , Colleen Azen , Harvey Levy
DOI: 10.1016/S0022-3476(00)90050-7
关键词: Psychomotor disorder 、 Cohort study 、 Offspring 、 Internal medicine 、 Endocrinology 、 Microcephaly 、 Wechsler Adult Intelligence Scale 、 Medicine 、 Pediatrics 、 Gestation 、 Pregnancy 、 Hyperphenylalaninemia
摘要: Abstract Objective: A cohort of women with phenylketonuria (PKU) were selected to explore the impact phenylalanine (Phe) levels and other factors on congenital heart defects (CHDs), microcephaly, development their offspring. Study design: Three hundred fifty-four PKU followed up weekly diet records, blood Phe levels, sonograms obtained at 18 20 32 weeks’ gestation. At birth, 413 offspring examined 6 months annually by means Bayley Mental Developmental Index Psychomotor tests 1 2 years. The had Wechsler Adult Intelligence Scales DNA testing. Results: Thirty-one CHDs; these, 17 also microcephaly. Mean 4 8 gestation predicted CHDs (P
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