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Comparison of different preparation techniques of dried blood spot quality controls in newborn screening for congenital adrenal hyperplasia
- Source :
- PLoS ONE, PLoS ONE, Vol 16, Iss 5, p e0252091 (2021)
- Publication Year :
- 2021
-
Abstract
- In newborn screening, samples suspected for congenital adrenal hyperplasia (CAH), a potentially lethal inborn error of steroid biosynthesis, need to be confirmed using liquid chromatography–tandem mass spectrometry. Daily quality controls (QCs) for the 2nd-tier CAH assay are not commercially available and are therefore generally prepared within the laboratory. For the first time, we aimed to compare five different QC preparation approaches used in routine diagnostics for CAH on the concentrations of cortisol, 21-deoxycortisol, 11-deoxycortisol, 4-androstenedione and 17-hydroxyprogesterone in dried blood spots. The techniques from Prep1 to Prep5 were tested at two analyte concentrations by spiking aliquots of a steroid-depleted blood, derived from washed erythrocyte suspension and steroid-depleted serum. The preparation processes differed in the sequence of the preparation steps and whether freeze-thaw cycles were used to facilitate blood homogeneity. The five types of dried blood spot QCs were assayed and quantitated in duplicate on five different days using a single calibration row per day. Inter-assay variations less than 15% and concentrations within ±15% of the nominal values were considered acceptable. Results obtained by means of the four dried blood spot QC preparation techniques (Prep1, Prep2, Prep4 and Prep5) were statistically similar and remained within the ±15% ranges in terms of both reproducibility and nominal values. However, concentration results for Prep3 (spiking prior to three freeze-thaw cycles) were significantly lower than the nominal values in this setting, with differences exceeding the ±15% range in many cases despite acceptable inter-assay variations. These findings have implications for the in-house preparation of QC samples in laboratory developed tests for CAH, including 2nd-tier assays in newborn screening.
- Subjects :
- Congenital Adrenal Hyperplasia
Physiology
Systems Engineering
Biochemistry
Mass Spectrometry
Cortisol
Analytical Chemistry
Medical Conditions
Spectrum Analysis Techniques
Filter Paper
Liquid chromatography–mass spectrometry
Tandem Mass Spectrometry
Animal Cells
Red Blood Cells
Medicine and Health Sciences
03.02. Klinikai orvostan
Lipid Hormones
Dried blood
Liquid Chromatography
Multidisciplinary
Organic Compounds
17-alpha-Hydroxyprogesterone
Chromatographic Techniques
Dried blood spot
Body Fluids
Laboratory Equipment
Chemistry
Blood
Genetic Diseases
Physical Sciences
Medicine
Engineering and Technology
Steroids
Anatomy
Cellular Types
Research Article
Analyte
Science
Liquid Chromatography-Mass Spectrometry
Cortodoxone
Equipment
Steroid biosynthesis
Research and Analysis Methods
Neonatal Screening
Autosomal Recessive Diseases
medicine
Humans
Congenital adrenal hyperplasia
Clinical Genetics
Reproducibility
Newborn screening
Steroid Hormones
Chromatography
Blood Cells
Adrenal Hyperplasia, Congenital
business.industry
Organic Chemistry
Androstenedione
Infant, Newborn
Chemical Compounds
Biology and Life Sciences
Cell Biology
medicine.disease
Hormones
Dried Blood Spot Testing
business
Quality Assurance
Subjects
Details
- ISSN :
- 19326203
- Volume :
- 16
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- PloS one
- Accession number :
- edsair.doi.dedup.....d13c6fa9a850511321840440addf588b