TY - JOUR
T1 - Maternal phenylketonuria-chronology of the detrimental effects on embryogenesis and fetal development
T2 - Pathological report, survey, clinical application
AU - Fisch, Robert O.
AU - Burke, Barbara
AU - Bass, John
AU - Ferrara, T. Bruce
AU - Mastri, Angeline
PY - 1986
Y1 - 1986
N2 - Maternal phenylketonuria (PKU) is likely to have detrimental effects on embryogenesis and fetal development. Manifestations in the offspring include spontaneous abortion, various congenital malformations, intrauterine growth retardation, and microcephaly. The time at which the metabolic abnormalities induce pathologic embryogenesis can be documented by knowing the time of the development of specifically damaged organ systems. This review reveals that, while the most recognized congenital malformations occur in the heart, the most common abnormality is growth inhibition occurring throughout pregnancy. The organ system most commonly affected by this growth inhibition is the brain, resulting in a high incidence of micrencephaly. It appears that maternal phenylketonuria interferes with appropriate fetal growth and that this effect occurs during the entire course of pregnancy and has no tissue specificity. This information can be both informative to pathologists and useful to clinicians..
AB - Maternal phenylketonuria (PKU) is likely to have detrimental effects on embryogenesis and fetal development. Manifestations in the offspring include spontaneous abortion, various congenital malformations, intrauterine growth retardation, and microcephaly. The time at which the metabolic abnormalities induce pathologic embryogenesis can be documented by knowing the time of the development of specifically damaged organ systems. This review reveals that, while the most recognized congenital malformations occur in the heart, the most common abnormality is growth inhibition occurring throughout pregnancy. The organ system most commonly affected by this growth inhibition is the brain, resulting in a high incidence of micrencephaly. It appears that maternal phenylketonuria interferes with appropriate fetal growth and that this effect occurs during the entire course of pregnancy and has no tissue specificity. This information can be both informative to pathologists and useful to clinicians..
KW - Detrimental embryogenesis
KW - Maternal phenylketonuria
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U2 - 10.3109/15513818609068869
DO - 10.3109/15513818609068869
M3 - Article
C2 - 3537998
AN - SCOPUS:0022527946
SN - 1551-3815
VL - 5
SP - 449
EP - 461
JO - Fetal and Pediatric Pathology
JF - Fetal and Pediatric Pathology
IS - 3-4
ER -