Detection of paternally inherited fetal point mutations for β-thalassemia in maternal plasma using simple fetal DNA enrichment protocol with or without whole genome amplification: an accuracy assessment

References

• Vrettou C, Traeger-Synodinos J, Tzetis M, et al. Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin Chem 2003;49:769–76
   PubMed Web of Science ®Google Scholar
• Tounta G, Kolialexi A, Papantoniou N, et al. Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: progress overview beyond predictive and personalized diagnosis. EPMA J 2011;2:163–71
   PubMedGoogle Scholar
• Stumm M, Wegner R-D, Hofmann W. Cell-free fetal DNA in maternal blood: new possibilities in prenatal diagnostics. Laboratoriumsmedizin 2012
   Google Scholar
• Guibert J, Benachi A, Grebille AG, et al. Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum Reprod 2003;18:1733–6
   PubMed Web of Science ®Google Scholar
• Lo Y, Zhang J, Leung TN, et al. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999;64:218–24
   PubMed Web of Science ®Google Scholar
• Lun FM, Chiu RW, Chan KA, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54:1664–72
   PubMed Web of Science ®Google Scholar
• Alberry M, Maddocks D, Jones M, et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 2007;27:415–18
   PubMed Web of Science ®Google Scholar
• Masuzaki H, Miura K, Yoshiura K, et al. Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism. J Med Genet 2004;41:289–92
   PubMed Web of Science ®Google Scholar
• Chan KA, Zhang J, Hui AB, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 2004;50:88–92
   PubMed Web of Science ®Google Scholar
• Banerjee M, Misra D. Fetal nucleic acids in maternal circulation: a genetic resource for noninvasive prenatal diagnosis. ISRN Genet 2013;2012
   Google Scholar
• Tungwiwat W, Fucharoen G, Fucharoen S, et al. Application of maternal plasma DNA analysis for noninvasive prenatal diagnosis of Hb E-beta-thalassemia. Transl Res 2007;150:319–25
   PubMed Web of Science ®Google Scholar
• Dhallan R, Au W-C, Mattagajasingh S, et al. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA 2004;291:1114–19
   PubMed Web of Science ®Google Scholar
• Liao GJ, Lun FM, Zheng YW, et al. Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin Chem 2011;57:92–101
   PubMed Web of Science ®Google Scholar
• Li Y, Di Naro E, Vitucci A, et al. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 2005;293:843–9
   PubMed Web of Science ®Google Scholar
• Jorgez CJ, Bischoff FZ. Improving enrichment of circulating fetal DNA for genetic testing: size fractionation followed by whole gene amplification. Fetal Diagn Ther 2009;25:314
   PubMed Web of Science ®Google Scholar
• Li Y, Zimmermann B, Rusterholz C, et al. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin Chem 2004;50:1002–11
   PubMed Web of Science ®Google Scholar
• Jorgez CJ, Dang DD, Simpson JL, et al. Quantity versus quality: optimal methods for cell-free DNA isolation from plasma of pregnant women. Genet Med. 2006;8:615–19
   PubMed Web of Science ®Google Scholar
• Alberry MS, Maddocks DG, Hadi MA, et al. Quantification of cell free fetal DNA in maternal plasma in normal pregnancies and in pregnancies with placental dysfunction. Am J Obstet Gynecol 2009;200:98.e1–e6
   PubMed Web of Science ®Google Scholar
• Šimundić A-M. Measures of diagnostic accuracy: basic definitions. Med Biol Sci 2008;22:61–5
   Google Scholar
• Turner EH, Lee C, Ng SB, et al. Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods 2009;6:315–16
   PubMed Web of Science ®Google Scholar
• Tewhey R, Warner JB, Nakano M, et al. Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 2009;27:1025–31
   PubMed Web of Science ®Google Scholar
• Albert TJ, Molla MN, Muzny DM, et al. Direct selection of human genomic loci by microarray hybridization. Nat Methods 2007;4:903–5
   PubMed Web of Science ®Google Scholar
• Lun FM, Tsui NB, Chan KA, et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci 2008;105:19920–5
   PubMed Web of Science ®Google Scholar
• Ding C, Chiu RW, Lau TK, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA 2004;101:10762–7
   PubMed Web of Science ®Google Scholar
• Chim SS, Tong YK, Chiu RW, et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci USA 2005;102:14753–8
   PubMed Web of Science ®Google Scholar
• Chiu RW, Chim SS, Wong IH, et al. Hypermethylation of RASSF1A in human and rhesus placentas. Am J Pathol. 2007;170:941–50
   PubMed Web of Science ®Google Scholar
• Tong YK, Chiu RW, Leung TY, et al. Detection of Restriction enzyme-digested target DNA by PCR amplification using a stem-loop primer: application to the detection of hypomethylated fetal DNA in maternal plasma. Clin Chem 2007;53:1906–14
   PubMed Web of Science ®Google Scholar
• Grunau C, Clark S, Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res 2001;29:e65
   PubMedGoogle Scholar
• Clausen FB, Krog GR, Rieneck K, Dziegiel MH. Improvement in fetal DNA extraction from maternal plasma. Evaluation of the NucliSens magnetic extraction system and the QIAamp DSP virus kit in comparison with the QIAamp DNA blood mini kit. Prenat Diagn 2007;27:6–10
   PubMed Web of Science ®Google Scholar
• Legler TJ, Liu Z, Mavrou A, et al. Workshop report on the extraction of foetal DNA from maternal plasma. Prenat Diagn 2007;27:824–9
   PubMed Web of Science ®Google Scholar