Neonatal screening, clinical features and genetic testing for galactosemia.
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INTRODUCTION: Low thyroxine (T4) with normal thyroid stimulating hormone (TSH) is a well known condition in preterm (PT) infants. The establishment of T4 and freeT4 (FT4) values in filter paper dried blood spots in PT could provide useful information in the neonatal period. OBJECTIVE: To study T4 and FT4 levels in dried blood filter paper samples of PT and full term (FT) babies. METHODS: We measured T4 by fluoroimmunoassay (FIA) DELFIA and TSH by IFMA DELFIA (Wallac Inc Turku, Finland) in 193 PT (26 to 37 weeks of gestational age (GA)) in samples from the first and second week of life and in 153 FT babies in the first week of life. In 131 PT and 31 FT we determined FT4 in filter paper blood spots using FIA (Alonso Fernandez J). Infants were grouped according to GA. RESULTS: There was a significant difference in T4 between PT and FT (p < 0.001). The lowest T4 levels were at 26 to 29 weeks GA. T4 values were lower in the second week. FT4 in PT up to 35 weeks GA, during the first week, was significantly different with FT infants (G1 to G3 p < 0.01, G4 p < 0.05). FT4 values in the first and second weeks of life did not vary. CONCLUSIONS: T4 values were significantly lower in PT than in FT neonates, increasing with GA. PT infants had low T4 with normal FT4 values. This could suggest a decreased thyroxine binding globulin (TBG) or decreased protein binding and/or an adaptative mechanism that would not require therapeutical intervention.
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OBJECTIVE: To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the population tested, and to evaluate the prevalence of neonatal jaundice in newborns with G6PD deficiency. METHODS: Cord blood of all babies born between October 1996 and October 1998 at the Royal Commission Medical Center in Yanbu, Saudi Arabia, was screened for G6PD deficiency by fluorescent spot test. The results of screening of cord blood samples were reported to the physician in charge, and also placed on the files of the babies and their mothers. These babies were observed for 72 h and discharged if no jaundice developed. RESULTS: During this two-year period, 2,505 neonatal cord blood samples from 1,278 boys and 1,227 girls were screened for G6PD. There were 50 positive results for G6PD deficiency (39 boys and 11 girls), and the prevalence was estimated to be around 2%. The sex-specific prevalence for boys was 3.05%, and for girls 0.9%. Male to female ratio was 3:1. Neonatal jaundice developed in six (12%) babies, five male and one female. All were treated with phototherapy and discharged within one week of birth. CONCLUSION: The prevalence of G6PD is relatively high in Yanbu. Routine neonatal screening in areas with a high prevalence of G6PD in Saudi Arabia is justifiable.
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A screening program for phenylketonuria in newborn infants that is being carried out at one of the Metropolitan Health Services at Santiago, Chile for the last 17 months, using the Guthrie test, is described. During this period 15,214 blood samples have been analyzed, which represented 94.4% coverage for beneficiary newborn infants. Two cases of transient hyperphenylalaninemia, one patient with benign hyperphenylalaninemia, and one infant with classical phenylketonuria have been thus identified. In this last child nutritional management was started at 13 days of life. Screening programs for early detection of phenylketonuria in Chile seem convenient, feasible and reliable.
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In Belgium as in most developed countries, the proportions of breastfed to bottle-fed newborns is poorly known. A compilation of infant feeding information, available on cards which were completed at the time newborns were screened for inborn metabolic errors, indicates that in the years 1992 and 1993, 62.5 percent of infants were breastfed on day five of life. The data collected in this way were consistent for the years studied. Other countries may also be able to use screening cards to estimate breastfeeding initiation rates.
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