The impact of digital DNA counting technologies on noninvasive prenatal testing

References

• Lo YMD, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350(9076):485-7
   PubMed Web of Science ®Google Scholar
• Lo YMD, Hjelm NM, Fidler C, et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med 1998;339(24):1734-8
   PubMed Web of Science ®Google Scholar
• Scheffer PG, van der Schoot CE, Page-Christiaens GC, de Haas M. Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience. BJOG 2011;118(11):1340-8
   PubMed Web of Science ®Google Scholar
• Van der Schoot CE, Soussan AA, Koelewijn J, et al. Non-invasive antenatal RHD typing. Transfus Clin Biol 2006;13(1-2):53-7
   PubMed Web of Science ®Google Scholar
• Finning K, Martin P, Summers J, et al. Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. BMJ 2008;336(7648):816-18
   PubMed Web of Science ®Google Scholar
• Muller SP, Bartels I, Stein W, et al. The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible. Transfusion 2008;48(11):2292-301
   PubMed Web of Science ®Google Scholar
• Saito H, Sekizawa A, Morimoto T, et al. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma [letter] [In Process Citation]. Lancet 2000;356(9236):1170
   PubMed Web of Science ®Google Scholar
• Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 2000;46(2):301-2
   PubMed Web of Science ®Google Scholar
• Gonzalez-Gonzalez MC, Trujillo MJ, Rodriguez de Alba M, et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn 2003;23(3):232-4
   PubMed Web of Science ®Google Scholar
• Sykes PJ, Neoh SH, Brisco MJ, et al. Quantitation of targets for PCR by use of limiting dilution. Biotechniques 1992;13(3):444-9
   PubMed Web of Science ®Google Scholar
• Kalinina O, Lebedeva I, Brown J, Silver J. Nanoliter scale PCR with TaqMan detection. Nucleic Acids Res 1997;25(10):1999-2004
   PubMed Web of Science ®Google Scholar
• Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci USA 1999;96(16):9236-41
   PubMed Web of Science ®Google Scholar
• Lo YMD, Lun FMF, Chan KCA, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA 2007;104(32):13116-21
   PubMed Web of Science ®Google Scholar
• Lun FMF, Chiu RWK, Chan KCA, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54(10):1664-72
   PubMed Web of Science ®Google Scholar
• Chang YH, Lee GB, Huang FC, et al. Integrated polymerase chain reaction chips utilizing digital microfluidics. Biomed Microdevices 2006;8(3):215-25
   PubMed Web of Science ®Google Scholar
• Ottesen EA, Hong JW, Quake SR, Leadbetter JR. Microfluidic digital PCR enables multigene analysis of individual environmental bacteria. Science 2006;314(5804):1464-7
   PubMed Web of Science ®Google Scholar
• Beer NR, Hindson BJ, Wheeler EK, et al. On-chip, real-time, single-copy polymerase chain reaction in picoliter droplets. Anal Chem 2007;79(22):8471-5
   PubMed Web of Science ®Google Scholar
• Nakano M, Komatsu J, Matsuura S, et al. Single-molecule PCR using water-in-oil emulsion. J Biotechnol 2003;102(2):117-24
   PubMed Web of Science ®Google Scholar
• Chan KCA, Ding C, Gerovassili A, et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem 2006;52(12):2211-18
   PubMed Web of Science ®Google Scholar
• Lo YMD, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62(4):768-75
   PubMed Web of Science ®Google Scholar
• Lun FMF, Tsui NBY, Chan KCA, 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 USA 2008;105(50):19920-5
   PubMed Web of Science ®Google Scholar
• El Karoui N, Zhou W, Whittemore AS. Getting more from digital SNP data. Stat Med 2006;25(18):3124-33
   PubMed Web of Science ®Google Scholar
• Tsui NB, Kadir RA, Chan KC, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011;117(13):3684-91
   PubMed Web of Science ®Google Scholar
• Gu W, Koh W, Blumenfeld YJ, et al. Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet Med 2014;16(7):564-7
   PubMed Web of Science ®Google Scholar
• Lo YMD, Chan KCA, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010;2(61):61ra91
   PubMed Web of Science ®Google Scholar
• Lam KW, Jiang P, Liao GJ, et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin Chem 2012;58(10):1467-75
   PubMed Web of Science ®Google Scholar
• New MI, Tong YK, Yuen T, et al. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 2014;99(6):E1022-30
   PubMed Web of Science ®Google Scholar
• Ge H, Huang X, Li X, et al. Noninvasive prenatal detection for pathogenic CNVs: the application in alpha-thalassemia. PLoS One 2013;8(6):e67464
   PubMed Web of Science ®Google Scholar
• Ma D, Ge H, Li X, et al. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing. Gene 2014;544(2):252-8
   PubMed Web of Science ®Google Scholar
• Yoo SK, Lim BC, Byeun J, et al. Noninvasive prenatal diagnosis of Duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus. Clin Chem 2015;61(6):829-37
   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(1):92-101
   PubMed Web of Science ®Google Scholar
• Chim SSC, Jin S, Lee TY, et al. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin Chem 2008;54(3):500-11
   PubMed Web of Science ®Google Scholar
• Chim SSC, Tong YK, Chiu RWK, et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci USA 2005;102(41):14753-8
   PubMed Web of Science ®Google Scholar
• Chiu RWK, Chan KCA, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008;105(51):20458-63
   PubMed Web of Science ®Google Scholar
• Chiu RWK, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401
   PubMed Web of Science ®Google Scholar
• Chen EZ, Chiu RW, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011;6(7):e21791
   PubMed Web of Science ®Google Scholar
• Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14(3):296-305
   PubMed Web of Science ®Google Scholar
• Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13(11):913-20
   PubMed Web of Science ®Google Scholar
• Zhang H, Gao Y, Jiang F, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies. Ultrasound Obstet Gynecol 2015;45(5):530-8
   PubMed Web of Science ®Google Scholar
• Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207(5):374 e371-6
   Web of Science ®Google Scholar
• Liao GJ, Chan KC, Jiang P, et al. Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA. PLoS One 2012;7(5):e38154
   PubMed Web of Science ®Google Scholar
• Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32(13):1233-41
   PubMed Web of Science ®Google Scholar
• Yu SC, Jiang P, Choy KW, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One 2013;8(4):e60968
   PubMed Web of Science ®Google Scholar
• Zhao C, Tynan J, Ehrich M, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem 2015;61(4):608-16
   PubMed Web of Science ®Google Scholar
• Chen S, Ge H, Wang X, et al. Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing. Genome Med 2013;5(2):18
   PubMedGoogle Scholar
• Fan HC, Gu W, Wang J, et al. Non-invasive prenatal measurement of the fetal genome. Nature 2012;487(7407):320-4
   PubMed Web of Science ®Google Scholar
• Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012;4(137):137ra176
   Web of Science ®Google Scholar
• Pettit KE, Hull AD, Korty L, et al. The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience. J Perinatol 2014;34(10):750-3
   PubMed Web of Science ®Google Scholar
• Chan KCA, Jiang P, Zheng YW, et al. Cancer genome scanning in plasma: Detection of tumor-associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing. Clin Chem 2013;59:211-24
   PubMed Web of Science ®Google Scholar
• Chan KC, Jiang P, Chan CW, et al. Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing. Proc Natl Acad Sci USA 2013;110(47):18761-8
   PubMed Web of Science ®Google Scholar
• Jiang P, Chan CW, Chan KC, et al. Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients. Proc Natl Acad Sci USA 2015;112(11):E1317-25
   PubMed Web of Science ®Google Scholar
• Chan KCA. Scanning for cancer genomic changes in plasma: toward an era of personalized blood-based tumor markers. Clin Chem 2013;59(11):1553-5
   PubMed Web of Science ®Google Scholar
• Chan KCA, Jiang P, Chan CWM, et al. Noninvasive detection of cancer-associated genomewide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing. Proc Natl Acad Sci USA 2013;110(47):18761-8
   PubMed Web of Science ®Google Scholar
• Zheng YWL, Chan KCA, Sun H, et al. Nonhematopoietically derived DNA is shorter than hematopoietically derived DNA in plasma: a transplantation model. Clin Chem 2012;58(3):549-58
   PubMed Web of Science ®Google Scholar
• American College of O, Gynecologists Committee on G. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012;120(6):1532-4
   PubMed Web of Science ®Google Scholar
• Hudecova I, Sahota D, Heung MM, et al. Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies. PLoS One 2014;9(2):e88484
   PubMed Web of Science ®Google Scholar