TY - JOUR
T1 - Maternal phenylketonuria syndrome
T2 - Congenital heart defects, microcephaly, and developmental outcomes
AU - Rouse, Bobbye
AU - Matalon, Reuben
AU - Koch, Richard
AU - Azen, Colleen
AU - Levy, Harvey
AU - Hanley, William
AU - Trefz, Frederick
AU - De La Cruz, Felix
N1 - Funding Information:
Supported by Contract, Numbers NOl-HD-2-3148, NO1-HD-2-3149, NO1-HD-2-3155, and NO1-HD-3156 by the National Institute of Child Health and Human Development, Bethesda, Maryland; Project Number 6606-3265 of the National Health Research and Development Program, Ottawa, Ontario, Canada; and General Clinical Research Contract, Grant Number 00073, Galveston, Texas.
PY - 2000
Y1 - 2000
N2 - Objective: A cohort of women with phenylketonuria (PKU) were selected to explore the impact of phenylalanine (Phe) levels and other factors on congenital heart defects (CHDs), microcephaly, and development of their offspring. Study design: Three hundred fifty-four women with PKU were followed up weekly with diet records, blood Phe levels, and sonograms obtained at 18 to 20 and 32 weeks' gestation. At birth, 413 offspring were examined and followed up at 6 months and annually by means of Bayley Mental Developmental Index and Psychomotor Developmental Index tests at 1 and 2 years. The women had Wechsler Adult Intelligence Scales and DNA testing. Results: Thirty-one offspring had CHDs; of these, 17 also had microcephaly. Mean Phe levels at 4 to 8 weeks' gestation predicted CHDs (P < .0001). An infant with a CHD had a 3-fold risk of having microcephaly when the mother had higher Phe levels (P = .02). The Bayley Mental Developmental Index and Psychomotor Developmental Index scores correlated with both CHDs (P = .037 and .0015, respectively) and microcephaly (P = .0001 for both). No direct relationship to the PKU mutation was found. Conclusion: None of the women whose offspring had CHDs had blood Phe levels in control during the first 8 weeks of gestation. Women with PKU need to be well controlled on a low- phenylalanine diet before conception and throughout pregnancy.
AB - Objective: A cohort of women with phenylketonuria (PKU) were selected to explore the impact of phenylalanine (Phe) levels and other factors on congenital heart defects (CHDs), microcephaly, and development of their offspring. Study design: Three hundred fifty-four women with PKU were followed up weekly with diet records, blood Phe levels, and sonograms obtained at 18 to 20 and 32 weeks' gestation. At birth, 413 offspring were examined and followed up at 6 months and annually by means of Bayley Mental Developmental Index and Psychomotor Developmental Index tests at 1 and 2 years. The women had Wechsler Adult Intelligence Scales and DNA testing. Results: Thirty-one offspring had CHDs; of these, 17 also had microcephaly. Mean Phe levels at 4 to 8 weeks' gestation predicted CHDs (P < .0001). An infant with a CHD had a 3-fold risk of having microcephaly when the mother had higher Phe levels (P = .02). The Bayley Mental Developmental Index and Psychomotor Developmental Index scores correlated with both CHDs (P = .037 and .0015, respectively) and microcephaly (P = .0001 for both). No direct relationship to the PKU mutation was found. Conclusion: None of the women whose offspring had CHDs had blood Phe levels in control during the first 8 weeks of gestation. Women with PKU need to be well controlled on a low- phenylalanine diet before conception and throughout pregnancy.
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U2 - 10.1016/S0022-3476(00)90050-7
DO - 10.1016/S0022-3476(00)90050-7
M3 - Article
C2 - 10636975
AN - SCOPUS:0033941662
SN - 0022-3476
VL - 136
SP - 57
EP - 61
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 1
ER -