Prenatal detection of thalassemia by cell-free fetal DNA (CffDNA) in maternal plasma using surface enhanced raman spectroscopy combined with PCR

Biomedical Optics Express

Volumn 9, Issue 7, 2018, Pages 3167-3176

  Li, Xiaozhou ^a,b   Yang, Tianyue ^a   Li, Caesar Siqi ^c   Jin, Lili ^b   Lou, Hong ^b   Song, Youtao ^b  

^a SHENYANG LIGONG UNIVERSITY   (China)

^b LIAONING UNIVERSITY   (China)

^c Northeast Ohio Medical University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FLUORESCENCE; GENES; LIGHT TRANSMISSION; PLASMA (HUMAN); RAMAN SPECTROSCOPY;

BLOOD TRANSFUSION; CELL-FREE; MATERNAL PLASMAS; MULTIPLE LINEAR REGRESSIONS; PCR PRODUCTS; PREGNANT WOMAN; SURFACE ENHANCED RAMAN SPECTROSCOPY; WILD TYPES;

POLYMERASE CHAIN REACTION;

CELL FREE FETAL DNA; CELL FREE NUCLEIC ACID; DNA; UNCLASSIFIED DRUG;

ADULT; ALPHA THALASSEMIA; ARTICLE; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FEMALE; FETUS; FLUORESCENCE; GENE DELETION; GENOTYPE; HUMAN; MATERNAL PLASMA; MULTIPLEX POLYMERASE CHAIN REACTION; NON INVASIVE MEASUREMENT; PREDICTIVE VALUE; PREGNANT WOMAN; PRENATAL DIAGNOSIS; QUANTITATIVE ANALYSIS; SENSITIVITY AND SPECIFICITY; SOUTHEAST ASIAN; SURFACE ENHANCED RAMAN SPECTROSCOPY; WILD TYPE;

EID: 85049367650     PISSN: None     EISSN: 21567085     Source Type: Journal    
DOI: 10.1364/BOE.9.003167     Document Type: Article

References (24)

1. D. J. Weatherall and J. B. Clegg, “Thalassemia-a global public health problem,” Nat. Med. 2(8), 847–849 (1996).
2. A. Cao and Y. W. Kan, “The prevention of thalassemia,” Cold Spring Harb. Perspect. Med. 3(2), a011775 (2013).
3. T. N. Williams and D. J. Weatherall, “World distribution, population genetics, and health burden of the hemoglobinopathies,” Cold Spring Harb. Perspect. Med. 2(9), a011692 (2012).
4. B. Modell and M. Darlison, “Global epidemiology of haemoglobin disorders and derived service indicators,” Bull. World Health Organ. 2008(6), 480–487 (2008).
5. F. B. Piel and D. J. Weatherall, “The α-thalassemias,” N. Engl. J. Med. 371(20), 1908–1916 (2014).
6. X. M. Xu, Y. Q. Zhou, G. X. Luo, C. Liao, M. Zhou, P. Y. Chen, J. P. Lu, S. Q. Jia, G. F. Xiao, X. Shen, J. Li, H. P. Chen, Y. Y. Xia, Y. X. Wen, Q. H. Mo, W. D. Li, Y. Y. Li, L. W. Zhuo, Z. Q. Wang, Y. J. Chen, C. H. Qin, and M. Zhong, “The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening,” J. Clin. Pathol. 57(5), 517–522 (2004).
7. A. Tabor and Z. Alfirevic, “Update on Procedure-Related Risks for Prenatal Diagnosis Techniques,” Fetal Diagn. Ther. 27(1), 1–7 (2010).
8. I. Hudecova and R. W. K. Chiu, “Non-invasive prenatal diagnosis of thalassemias using maternal plasma cell free DNA,” Best Pract. Res. Clin. Obstet. Gynaecol. 39, 63–73 (2017).
9. W. Tungwiwat, S. Fucharoen, G. Fucharoen, T. Ratanasiri, and K. Sanchaisuriya, “Development and application of a real-time quantitative PCR for prenatal detection of fetal alpha(0)-thalassemia from maternal plasma,” Ann. N. Y. Acad. Sci. 1075(1), 103–107 (2006).
10. S. Sirichotiyakul, P. Charoenkwan, and T. Sanguansermsri, “Prenatal diagnosis of homozygous alpha-thalassemia-1 by cell-free fetal DNA in maternal plasma,” Prenat. Diagn. 32(1), 45–49 (2012).
11. A. Campion and P. Kambhampati, “Surface-enhanced Raman scattering,” Chem. Soc. Rev. 27(4), 241 (1998).
12. K. Kneipp, “Surface-enhanced Raman scattering,” Phys. Today 60(11), 40–46 (2007).
13. A. S. De Silva Indrasekara, L. Fabris, and L. Fabris, “SERS-based approaches toward genetic profiling,” Bioanalysis 7(2), 263–278 (2015).
14. J. Traeger-Synodinos, C. Vrettou, and E. Kanavakis, “Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies,” Expert Rev. Mol. Diagn. 11(3), 299–312 (2011).
15. K. K. Strelau, A. Brinker, C. Schnee, K. Weber, R. Möller, and J. Popp, “Detection of PCR products amplified from DNA of epizootic pathogens using magnetic nanoparticles and SERS,” J. Raman Spectrosc. 42(3), 243– 250 (2011).
16. X. Li, T. Yang, C. S. Li, D. Wang, Y. Song, and L. Jin, “Detection of EGFR mutation in plasma using multiplex allele-specific PCR (MAS-PCR) and surface enhanced Raman spectroscopy,” Sci. Rep.-UK 7(1), 4771 (2017).
17. S.-Q. Huang, J. Hu, G. Zhu, and C.-Y. Zhang, “Sensitive detection of point mutation using exponential strand displacement amplification-based surface enhanced Raman spectroscopy,” Biosens. Bioelectron. 65, 191–197 (2015).
18. A. J. Lowe, Y. S. Huh, A. D. Strickland, D. Erickson, and C. A. Batt, “Multiplex single nucleotide polymorphism genotyping utilizing ligase detection reaction coupled surface enhanced Raman spectroscopy,” Anal. Chem. 82(13), 5810–5814 (2010).
19. D. van Lierop, Ž. Krpetić, L. Guerrini, I. A. Larmour, J. A. Dougan, K. Faulds, and D. Graham, “Positively charged silver nanoparticles and their effect on surface-enhanced Raman scattering of dye-labelled oligonucleotides,” Chem. Commun. (Camb.) 48(66), 8192–8194 (2012).
20. D. Graham, B. J. Mallinder, D. Whitcombe, N. D. Watson, and W. E. Smith, “Simple multiplex genotyping by surface-enhanced resonance Raman scattering,” Anal. Chem. 74(5), 1069–1074 (2002).
21. M. Hill, A. N. Barrett, H. White, and L. S. Chitty, “Uses of cell free fetal DNA in maternal circulation,” Best Pract. Res. Clin. Obstet. Gynaecol. 26(5), 639–654 (2012).
22. K. Faulds, R. Jarvis, W. E. Smith, D. Graham, and R. Goodacre, “Multiplexed detection of six labelled oligonucleotides using surface enhanced resonance Raman scattering (SERRS),” Analyst (Lond.) 133(11), 1505–1512 (2008).
23. W. Tungwiwat, G. Fucharoen, S. Fucharoen, T. Ratanasiri, K. Sanchaisuriya, and N. Sae-Ung, “Application of maternal plasma DNA analysis for noninvasive prenatal diagnosis of Hb E-beta-thalassemia,” Transl. Res. 150(5), 319–325 (2007).
24. M. M. Harper, B. Robertson, A. Ricketts, and K. Faulds, “Specific detection of DNA through coupling of a TaqMan assay with surface enhanced Raman scattering (SERS),” Chem. Commun. (Camb.) 48(75), 9412–9414 (2012).