Biological variations, technical stability and elution tactics in dried blood spots specimens: neonatal screening outcomes

  • Subhasree C.R. Research Scholar, Department of Biochemistry, Regenix Super Speciality Laboratories Private Ltd, Chennai, India.
  • Samu Subramaniam Lab Director and Head of the Department; Department of Biochemistry, Regenix Super Speciality Laboratories Private Ltd, Chennai, India.
  • Shyama Subramaniam Professor, Consultant, Lab services, Apollo Hospitals, Chennai, Tamil Nadu, India.
Keywords: Inborn Errors of Metabolism, Diagnosis, Genetic, Newborn screening, Paediatric, Venepuncture, Dried Blood Spots

Abstract

For many years, pre-analytical variables were only inappropriately considered in the field of dried blood spots (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. (1) compared to conventional venepuncture, less blood volume is required and this fact was most important in paediatric diagnostics; (2) blood collection is simple, non-invasive, and inexpensive; (3) the risk of bacterial contamination or haemolysis is minimal; and (4) DBS can be preserved for long periods with almost no deterioration of the analytes. Advances techniques applied to diagnose the disorders of Inborn errors of metabolism. Dried blood spots (DBSs) have potential use in remote health applications for individual and population diagnosis, and can enable epidemiological surveillance for known and unknown diseases. DBS sampling offers great potential for remote health applications as a cost-effective sample format for large-scale screening and diagnostic purposes, but the DBS samples often need to be transported from remote sampling locations (e.g., tropical or developing countries) to analytical laboratories where the quantitative measurements of different metabolic or disease biomarkers can be carried out. Dried blood spots are commonly method for collecting, storing, transporting, and analysing a variety of human body fluids. Since 2006, however a variety of new and innovative dried blood spots applications, although this pre-analytical approach represents an interesting alternative to classical venous blood sampling, its routine use is limited. Here, we review the application of DBS technology in clinical chemistry, molecular assays, small molecules, and large molecules all are perfectly suited to evaluate its future role supported by new analytical methods such as mass spectrometry.

Downloads

Download data is not yet available.

References

1. Kapoor S. KabraM. Newborn Screening in India: Current Perspectives. Indian Pediatr. 2010;47(3):219-24. https://doi.org/10.1007/s13312-010-0043-0

2. Panel discussion on inborn errors of metabolism. The New Indian Express (weekend edition). [cited 2018 Dec 15] Availableat: http://www. newindianexpress.com/ ifestyle/health/2018/dec/15/panel-discussion-on-inborn- errors -of- metabolism-1911764.html

3. De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, et al. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.ClinChem. 2009;55(1):158-64. doi:10.1373/clinchem.2008.111864.

4. McDade TW, Williams S, Snodgrass JJ. What a drop can do: dried blood spots as a minimally invasive method for integrating biomarkers into population-based research. Demograph. 2007;44(4):899-925.

5. Mei JV, Alexander JR, Adam BW, Hannon WH. Use of filter paper for the collection and analysis of human whole blood specimens. J Nutr.2001;131(5):1631S-6S. doi:10.1093/jn/131.5.1631S.

6. World Health Organization. (‎2012)‎. WHO manual for HIV drug resistance testing using dried blood spot specimens, March, 2010 update July, 2012. World Health Organization. https://apps. who. int/iris/ handle/ 10665/ 75829.

7. Parker SP, Cubitt WD. The use of the dried blood spot sample in epidemiological studies. JClin Pathol. 1999; 52 (9):633-9.doi: 10.1136/jcp.52.9.633

8. Burnett JE. Dried blood spot sampling: Practical considerations and recommendation for use with preclinical studies. Bioanalysis. 2011; 3(10):1099-107. doi: 10.4155/BIO.11.68.

9. Mercader S, Featherstone D, Bellini WJ. Comparison of available methods to elute serum from dried blood spot samples for measles serology. JVirol Methods. 2006; 137(1): 140-9.doi: 10.1016/j.jviromet.2006.06.018

10. American College of Medical Genetics Newborn Screening Expert Group. Newbornscreening: Toward a uniform screening panel and system - executive summary. Pediatrics2006;117:S296–S307. doi:10.1542/ peds. 2005-2633I.

11.BorremansB.Ammonium improves elution of fixed dried blood spots without affecting immunofluore-scence assay quality.Trop Med Int Health. 2014; 19(4):413-6. doi: 10.1111/tmi.12259. Epub 2014 Jan 6.

12. Cassol SA, Read S, Weniger BG, Gomez P, Lapointe N, Ou CY, Babu PG. Dried blood spots collected on filter paper: an international resource for the diagnosis and genetic characterization of human immunodeficiency virus Type-1. Mem. Inst. Oswaldo Cruz.1996; 91(3):351-8.doi: http://dx.doi.org/10. 1590/ S0074- 0276199 6000300019.

13. Jeffrey DF, Lori MR, Jeremy DR, Paul TS, David R , Ellen KS.State of the science in dried blood spots. Clin Chem. 2018; 64(4):656-79.doi: 10.1373/ clinchem. 2017. 275966.

14. Guthrie R. Blood screening for phenylketonuria. JAMA1961: 178(8):863.doi:10.1001/jama.1961. 03040 47 0079019

15. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediat. 1963;32(3):338–43.

16. Demirev PA. Dried blood spots: Analysis and applications. Anal Chem. 2013;85(2):779–89.doi: 10. 1021 / ac303205m.

17. Edelbroek PM, van der Heijden J, Stolk LM. Dried blood spot methods in therapeutic drug monitoring: methods, assays, and pitfalls. Ther Drug Monit. 2009;31 (3): 327-36.doi: 10.1097/FTD.0b0 13e31819e91ce.

18. Antunes MV, Charão MF, Linden R. Dried blood spots analysis with mass spectrometry: potentials and pitfalls in therapeutic drug monitoring. Clin Biochem. 2016;49(13-14):1035–46. doi: 10.1016/j.clinbiochem. 2016. 05.004.

19. De Kesel PM, Sadones N, Capiau S, Lambert WE, Stove CP. Hemato-critical issues in quantitative analysis of dried blood spots: challenges and solutions. Bioanal. 2013;5(16):2023–41. doi: 10.4155/bio.13.156.

20. World Health Organization. Surveillance Guidelines for Measles, Rubella and Congenital Rubella Syndrome in the WHO European Region. Copenhagen, Denmark: WHO Regional Office for Europe; 2012.

21. Kummer N, Lambert WE, Samyn N, Stove CP. Alternative sampling strategies for the assessment of alcohol intake of living persons. Clin Biochem. 2016; 49:1078–91.doi: 10.1016/j.clinbiochem.2016.05.007.

22. Stove CP, Ingels AS, De Kesel PM, Lambert WE. Dried blood spots in toxicology: from the cradle to the grave? Crit Rev Toxicol. 2012;42(3):230-243.doi: 10.3109/10408444.2011.650790.

23. Sadones N, Capiau S, De Kesel PM, Lambert WE, Stove CP. Spot them in the spot: analysis of abused substances using dried blood spots. Bioanalysis. 2014; 6(17):2211–27.doi: 10.4155/bio.14.156.

24. Xu Su, Bradley FC, Xiexiu W.Dried Blood Spots: An evaluation of utility in the field. J Infect Public Health.2018;11(3):373–6.doi:10.1016/j.jiph.2017.09. 014

25. Delahaye L, Janssens B, Stove C. Alternative sampling strategies for the assessment of biomarkers of exposure.Curr OpinToxicol. 2017;4:43–51.doi: https:// doi. org/ 10. 1016/j. cotox.2017.05.003
CITATION
DOI: 10.17511/ijpr.2019.i07.06
Published: 2019-07-31
How to Cite
Subhasree C.R., Samu Subramaniam, & Shyama Subramaniam. (2019). Biological variations, technical stability and elution tactics in dried blood spots specimens: neonatal screening outcomes. Pediatric Review: International Journal of Pediatric Research, 6(7), 344-351. https://doi.org/10.17511/ijpr.2019.i07.06
Section
Review Article