Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots
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Abstract:
The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism, phenylalanine (PHE) for phenylketonuria, and 17α-hydroxyprogesterone (17OHP) for congenital adrenal hyperplasia. These diseases are commonly a part of neonatal screening panels worldwide. The ISNS provides a series of secondary reference materials to the manufacturers of neonatal screening reagents to assist in the production of calibration materials for kits. This technical note describes the manufacture of the seventh combined dried blood spot reference preparation for neonatal screening (RPNS) for these analytes.Keywords:
Congenital hypothyroidism
Thyroid-stimulating hormone
Dried blood spot
Dried blood
Dried blood spot (DBS) sampling has been being explored as an important microsampling tool in drug research and development and post-approval therapeutic drug monitoring (TDM) due to its many undeniable advantages and benefits. This chapter provides an overview on the best practices in LC-MS method development and validation for quantitative analysis of dried blood spot (DBS) samples. In order to develop a robust DBS LC-MS assay method, some DBS sample unique technical challenges, such as spot homogeneity, hematocrit effect, use of internal standards and extraction recovery, etc. must be properly evaluated and any identified issues must be addressed. The chapter discusses in detail of the current approaches to addressing those possible issues.
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The idea of collecting blood on a paper card and subsequently using the dried blood spots (DBS) for diagnostic purposes originated a century ago. Since then, DBS testing for decades has remained predominantly focused on the diagnosis of infectious diseases especially in resource-limited settings or the systematic screening of newborns for inherited metabolic disorders and only recently have a variety of new and innovative DBS applications begun to emerge. For many years, pre-analytical variables were only inappropriately considered in the field of DBS testing and even today, with the exception of newborn screening, the entire pre-analytical phase, which comprises the preparation and processing of DBS for their final analysis has not been standardized. Given this background, a comprehensive step-by-step protocol, which covers al the essential phases, is proposed, i.e., collection of blood; preparation of blood spots; drying of blood spots; storage and transportation of DBS; elution of DBS, and finally analyses of DBS eluates. The effectiveness of this protocol was first evaluated with 1,762 coupled serum/DBS pairs for detecting markers of hepatitis B virus, hepatitis C virus, and human immunodeficiency virus infections on an automated analytical platform. In a second step, the protocol was utilized during a pilot study, which was conducted on active drug users in the German cities of Berlin and Essen.
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We investigated sample collection variables that may influence the measurement of the thyroid stimulating hormone (TSH) including: time after birth, season, different ways for blood spot drying and varied elution time from filter paper. TSH was measured with an enzyme-linked immunoassay (EIA) method on dried blood spots collected from newborns and/or external quality control materials from CDC. We found that TSH results were stable if specimens were collected from newborns 72 hours after birth. We obtained different results when TSH was measured during different seasons. The results also changed as the specimens were dried in different ways. The length of time for eluting from the DBS also exerted influence on the TSH measurement. In order to assure newborn screening quality, all factors influencing the results should be considered and the best condition for testing chosen. The specimen should be collected from babies at 3-6 days of age and air-dried at room temperature. Different cut-offs may be necessary for different seasons of the years.
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In 2015, U.K. newborn screening (NBS) laboratory guidelines were introduced to standardize dried blood spot (DBS) specimen quality acceptance and specify a minimum acceptable DBS diameter of ≥7 mm. The UK 'acceptable' avoidable repeat rate (AVRR) is ≤2%. To assess inter-laboratory variability in specimen acceptance/rejection, two sets of colored scanned images (
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Metabolic disease
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Neonatal dried blood spots (DBS) provide a remarkable resource for biobanks. These microsamples can provide information related to the genetic correlates of disease and can be used to quantify a range of analytes, such as proteins and small molecules. However, after routine neonatal screening, the amount of DBS sample available is limited. To optimize the use of these samples, there is a need for sensitive assays which are integrated across different analytic platforms. For example, after DNA extraction, protein extracts are available for additional analyses. We describe a sensitive and robust LC-MS/MS method for 25-hydroxyvitamin D2 and 25-hydroxyvitamin D3 optimized for leftover protein extracts from DBS, which has excellent recovery, precision, and accuracy.
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The collection of whole blood samples on paper, known as dried blood spot (DBS), dates back to the early 1960s in newborn screening for inherited metabolic disorders. DBS offers a number of advantages over conventional blood collection. As a less invasive sampling method, DBS offers simpler sample collection and storage and easier transfer, with reduced infection risk of various pathogens, and requires a smaller blood volume. To date, DBS-LC-MS/MS has emerged as an important method for quantitative analysis of small molecules. Despite the increasing popularity of DBS-LC-MS/MS, the method has its limitations in assay sensitivity due to the small sample size. Sample quality is often a concern. Systematic assessment on the potential impact of various blood sample properties on accurate quantification of analyte of interest is necessary. Whereas most analytes may be stable on DBS, unstable compounds present another challenge for DBS as enzyme inhibitors cannot be conveniently mixed during sample collection. Improvements on the chemistry of DBS card are desirable. In addition to capturing many representative DBS-LS-MS/MS applications, this review highlights some important aspects of developing and validating a rugged DBS-LC-MS/MS method for quantitative analysis of small molecules along with DBS sample collection, processing and storage.
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The idea of collecting blood on a paper card and subsequently using the dried blood spots (DBS) for diagnostic purposes originated a century ago. Since then, DBS testing for decades has remained predominantly focused on the diagnosis of infectious diseases especially in resource-limited settings or the systematic screening of newborns for inherited metabolic disorders and only recently have a variety of new and innovative DBS applications begun to emerge. For many years, pre-analytical variables were only inappropriately considered in the field of DBS testing and even today, with the exception of newborn screening, the entire pre-analytical phase, which comprises the preparation and processing of DBS for their final analysis has not been standardized. Given this background, a comprehensive step-by-step protocol, which covers al the essential phases, is proposed, i.e., collection of blood; preparation of blood spots; drying of blood spots; storage and transportation of DBS; elution of DBS, and finally analyses of DBS eluates. The effectiveness of this protocol was first evaluated with 1,762 coupled serum/DBS pairs for detecting markers of hepatitis B virus, hepatitis C virus, and human immunodeficiency virus infections on an automated analytical platform. In a second step, the protocol was utilized during a pilot study, which was conducted on active drug users in the German cities of Berlin and Essen.
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Limited resources
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The use of plasma is an obstacle to realize HIV-1 viral load in sub-Saharan Africa. In this context, the dried blood spot (DBS) is an interesting tool for sample collections. This approach was tested using a DBS hole-punch device (PUNCHER). Plasma and DBS samples were obtained from 102 patients, comprising 17 HIV-1 negative patients and 85 HIV-1 infected patients. The PUNCHER’s performance used to cut DBS was evaluated with the following criteria: ease of use, time savings and safety. VL was measured in parallel on plasma and DBS samples using NucliSENS EasyQ HIV-1. The correlation between plasma and DBS results was strong (R = 0.91; P < 0.001). The mean difference (± standard deviation) was -0.59 ± 0.52 log10 copies/ml. The sensitivity and specificity of DBS were 91.3% (n= 74) for the 81 VL detectable samples and 100% for the 21 VL undetectable samples, respectively. On a scale of 10, the PUNCHER’s performance scored 9.3 for ease of use, 8.6 for time savings and 10 for safety. PUNCHER is highly efficient at cutting DBS, and the VL resulting from DBS correlated well with those obtained from plasma. Key words: Puncher, dried blood spot (DBS), viral load, performance.
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