Clinical and environmental influences on metabolic biomarkers collected for newborn screening.

Author(s): Ryckman KK, Berberich SL, Shchelochkov OA, Cook DE, Murray JC

Publication: Clin Biochem, 2013, Vol. 46, Page 133-8

PubMed ID: 23010448 PubMed Review Paper? No

Purpose of Paper

Conclusion of Paper

Studies

1. Study Purpose

   The purpose of this study was to determine the effects of patient age, gestational age, gender, diet, birth weight, and season of blood collection on IRT, galactose-1-phosphate uridyl transferase (GALT), TSH, and 17-OHP, as well as amino acids and acylcarnitines in DBS collected from newborns. Details regarding storage duration or conditions of DBS were not provided.

   Summary of Findings:

   Most analytes were significantly influenced by gestational age and birth weight. Notably, 17-OHP, arginine, leucine, methionine, phenylalanine, and valine levels were significantly higher in DBS from premature infants born at 24-32 weeks than DBS from full term infants (>37 weeks). Some significant but generally small gender differences were noted for acylcarnitines. Further, 17-OHP was significantly higher in DBS from males as opposed to females. TSH and IRT varied by season of collection with higher levels measured in DBS collected in the winter than other seasons. The variables of age at the time of specimen collection, feeding method, total parenteral nutrition, and multiple gestations also led to some extremely small but significant effects on the tested analytes.

   Biospecimens

   • Bodily Fluid - Blood

   Preservative Types

   • Other Preservative

   Diagnoses:

   • Not specified

   Platform:

   Analyte	Technology Platform
   Protein	Clinical chemistry/auto analyzer
   Steroid	Clinical chemistry/auto analyzer
   Glycoprotein	Clinical chemistry/auto analyzer
   Protein	Enzyme assay
   Small molecule	MS/MS

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Preaquisition	Patient age	37-42 weeks gestation 32-<37 weeks gestation 24-<32 weeks gestation 24-36 h old >36-48 h old >48-60 h old >60-72 h old
   Biospecimen Acquisition	Time of biospecimen collection	Winter Spring Summer Fall
   Preaquisition	Patient body mass index	2250 g or higher 1750-<2250 g 1250-<1750 g <1250 g
   Preaquisition	Patient gender	Female Male
   Preaquisition	Patient diet	Bottle fed Breast fed Bottle and breast NPO Unknown Total parenteral nutrition No parenteral nutrition
   Preaquisition	Diagnosis/ patient condition	Singleton Twin Triplet Quadruplet

   View more