Original Article: PDF OnlyMaternal Phenylketonuria Course of Two PregnanciesHUNTLEY, CAROLYN C. MD; STEVENSON, ROGER E. MDAuthor Information From the Department of Pediatrics, Bowman Gray School of Medicine, and the North Carolina Baptist Hospital, Winston-Salem, NC Obstetrics & Gynecology: November 1969 - Volume 34 - Issue 5 - p 694-700 Free Abstract Two PKU patients (sisters) were studied throughout the course of pregnancy. Microcephaly and heart disease were present in both infants. Cord blood phenylalanine levels were higher than simultaneous maternal levels. The infant that survived rapidly cleared the excess phenylalanine, with blood concentrations returning to normal within 24 hr. A phenylalanine loading test showed a normal phenylalanine curve, and the fasting phenylalanine- to-tyrosine ratio was within normal limits. The other infant died during the newborn period because of pulmonary Iymphangiectasia and multiple cardiac anomalies. Of 26 previous pregnancies in these 2 women, 16 had resulted in spontaneous first-trimester abortions; all infants carried to term had intrauterine growth retardation and microcephaly. Cardiac malformations were present in 9 out of 12 term infants, including the latest 2 reported here. © 1969 The American College of Obstetricians and Gynecologists
