During the 21 years of national newborn screening for phenylketonuria (PKU) in Israel~ originally supported by grants from the NIH, Washington (HEW-WA/CB- Israel--9, 1964Israel--9, --1967 and subsequently taken up by the Israeli Ministry of Health (Cohen et al., 1966) an average of over 95% coverage was achieved by 1979, revealing 85 cases of classical PKU, 20 of variant or atypical PKU, and 2 cases of malignant PKU with a biopterin synthetase deficiency (Cohen et al., 1985). In addition, there were 18 cases of high hyperphenylalaninaemia (HPA) with blood phenylalanine levels of 12-16mg/dL who had never been on diet and 132 mild persistent HPA with blood phenylalanine below 12 mg/dL. No cases of classical PKU have been found amongst 'pure' Ashkenazi families whereas atypical and mild HPA are frequently found. Thus, the two classical PKU cases in mixed Ashkenazi families may be due to a double heterozygote effect for the PKU and HPA gene (Cohen et al., 1978).Of 33 girls with classical PKU born before 1970, many are so seriously retarded that they are not candidates for maternity. 5 moderately retarded girls and 6 with normal intelligence from our screening programme are undergoing a programme of education and/or diet. Of our 34 male PKUs none have married or fathered children.Three mothers with classical PKU delivered 5 children without dietary treatment during pregnancy (Table 1). Only one (N.M.) had any dietary treatment during infancy and in her case, biochemical and dietary control were inadequate. Note the high incidence of spontaneous abortion, one during a period of inadequate dietary control. In only one case was data available on cord and maternal blood phenylalanine levels, and only a slightly increased cord blood level was noted. This information, incomplete where available, was not helpful even amongst our high HPAs.The treated maternal PKU (A.R.) was identified at 12 years as the sibling of a severely retarded PKU. Although not treated and showing ex~idence of brain damage, she was only minimally affected with borderline retardation and had excellent social adaptation. In spite of counselling at 18 years and later, she married and was three months pregnant before coming to our attention. A therapeutic abortion was recommended and agreed upon. After 6 months of dietary control she again became pregnant. Her initial dietary control was inadequate however,
227Journal of Inherited Metabolic Disease. ISSN 0141-8955.
The optimal method for delivery of the infant less than 1500 grams is still under debate. In order to assess this situati on we examined the records of all infants born between June,l981 and Dec., 198 2. During that 18 month period, 226 infants were delivered between 500 and 1500 gms. A total of 91 infants were born vaginally and 135 by C/section. All infants were inborn. The overall survival rate was 85%. For this study only non-asphyxiated infants (5 minute Apgar i!: 7) were included, for a total of 155 infants. There were 60 infants born vaginally and 95 born by C/section. The mean birth weights were 1161! 25 5 gms and 1153!231 gms respectively. All infants had a routine cranial ultrasound during the first 72 hours of life, and then weekly thereafter as indicated. The overall incidence of
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