Quantitative ultramicrotest for newborn screening of galactosemia in Cuba
-
Amarilys Frómeta
,
Elisa Castells
Abstract
Background: To describe a simple, rapid, quantitative ultramicrotest (UMTEST) based on the fluorometric method introduced by Fujimura et al. adapted to an Ultra Micro Analytic System (SUMA) for the detection of total galactose (GAL) in dried blood specimens.
Methods: The assay uses 3 mm discs of dried blood on Whatman 903 filter paper and small volumes of each reagent. A methanol/acetone/water solution is used for deproteination, and a specially designed 96-well polystyrene opaque ultramicroplates, with a maximum capacity of 30 μL per well, are used for the reading.
Results: The UMTEST GAL is completed in 2 h, with measuring range of 0.28–3.92 mmol/L. The intra- and inter-assay coefficients of variation were 2.3%–8.9% and 6.8%–11.1%, respectively, depending on the total GAL concentrations. Percentage recovery ranged from 97.7% to 103%. Limit of detection and limit of quantitation were 0.06 and 0.16 mmol/L, respectively. The mean GAL concentration, in 2510 dried blood samples from the National Neonatal Screening Program was 0.23 mmol/L. Our assay showed high concordance correlations with the commercially available ICN Immuno-Chem™ GAL-MW EA kit.
Conclusions: The analytical performance characteristics of this assay is suitable for mass newborn screening of galactosemia in Cuba.
©2011 by Walter de Gruyter Berlin New York
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Artikel in diesem Heft
- Publisher's note
- Publisher's Note
- Review articles
- 3D and 4D sonography and magnetic resonance in the assessment of normal and abnormal CNS development: alternative or complementary
- Selective reduction in twins and multiple pregnancies
- Original articles – Obstetrics
- Do uterotrophic drugs increase the risk of fatal hemorrhagic brain stroke?
- Parental factors affecting the weights of the placenta and the offspring
- Trends in maternal mortality due to obstetric hemorrhage in urban and rural China, 1996–2005
- Original articles – Fetus
- Abdominal circumference ratio for the diagnosis of intertwin birth weight discordance
- Predicting survival of periviable fetuses using NICHD fetal heart rate categories
- Prospective risk of stillbirth in monochorionic-diamniotic twin gestations: a population based study
- Original articles – Newborn
- Effect of ibuprofen on bilirubin-albumin binding affinity in premature infants
- Evaluation and clinical application of changes in thyroid hormone and TSH levels in critically ill full-term newborns
- NCI classification of thrombocytopenia in extremely preterm neonates and its association with mortality and morbidity
- Epidemiology of congenital syphilis in a South Bronx population: a follow-up study
- Quantitative ultramicrotest for newborn screening of galactosemia in Cuba
- Expression of soluble Fas in the cerebrospinal fluid of preterm infants with posthemorrhagic hydrocephalus and cystic white matter damage
- Early left ventricular diastolic dysfunction in premature infants born to preeclamptic mothers
- Letter to the Editors
- Perimortem instrumental vaginal delivery
- Human sex ratio at birth and related factors
- Twins are a risk factor for developing severe hypertensive disorders in the puerperium following a normotensive pregnancy
- Congress calendar
- Congress Calendar
