Getting to know the fetal genome non-invasively: now a reality

Maulik M Dhandha()

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Protein Cell ›› 2012, Vol. 3 ›› Issue (10) : 723-725. DOI: 10.1007/s13238-012-2810-2
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NEWS AND VIEWS

Getting to know the fetal genome non-invasively: now a reality

  • Maulik M Dhandha()
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Maulik M Dhandha. Getting to know the fetal genome non-invasively: now a reality. Prot Cell, 2012, 3(10): 723‒725 https://doi.org/10.1007/s13238-012-2810-2

References

[1] Anker, P., Mulcahy, H., Chen, X.Q., and Stroun, M. (1999). Detection of circulating tumour DNA in the blood (plasma/serum) of cancer patients. Cancer Metastasis Rev 18, 65-73 .10.1023/A:1006260319913
[2] Chen, Z., Fadiel, A., Naftolin, F., Eichenbaum, K.D., and Xia, Y. (2005). Circulation DNA: biological implications for cancer metastasis and immunology. Med Hypotheses 65, 956-961 .10.1016/j.mehy.2005.04.042
[3] Evans, M.I., and Wapner, R.J. (2005). Invasive prenatal diagnostic procedures. Semin Pernatol 29, 215-218 . 10.1053/j.semperi.2005.06.004
[4] Fan, H.C., Gu, W., Wanf, J., Blumenfeld, Y.J., El-Sayed, Y.Y., and Quake, S.R. (2012). Non-invasive prenatal measurement of the fetal genome. Nature 487, 320-324 .
[5] Goebel, G., Zitt, M., Zitt, M., and Müller, H.M. (2005). Circulating nucleic acids in plasma or serum (CNAPS) as prognostic and predictive markers in patients with solid neoplasias. Dis Markers 21, 105-120 .
[6] Gormally, E., Caboux, E., Vineis, P., and Hainaut, P. (2007). Circulating free DNA in plasma or serum as biomarker of carcinogenesis: practical aspects and biological significance. Mutat Res 635, 105-117 .10.1016/j.mrrev.2006.11.002
[7] Hahn, S., Jackson, L.G., Kolla, V., Mahyuddin, A.P., and Choolani, M. (2009). Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies. Expert Rev Mol Diagn 9, 613-621 .10.1586/erm.09.43
[8] Hung, E.C., Chiu, R.W., and Lo, Y.M. (2009). Detection of circulating fetal nucleic acids: a review of methods and applications. J Clin Pathol 62, 308-313 .10.1136/jcp.2007.048470
[9] Lo, Y.M., Tein, M.S., Lau, T.K., Haines, C.J., Leung, T.N., Poon, P.M., Wainscoat, J.S., Johnson, P.J., Chang, A.M., and Hjelm, N.M. (1998). Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62, 768-775 10.1086/301800
[10] Lo, Y.M., Chan, K.C., Sun, H., Chen, E.Z., Jiang, P., Lun, F.M., Zheng, Y.W., Leung, T.Y., Lau, T.K., Cantor, C.R., . (2010). Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2, 1ra91.10.1126/scitranslmed.3001720
[11] Lo, Y.M., Corbetta, N., Chamberlain, P.F., Rai, V., Sargent, I.L., Redman, C.W.G., and Wainscoat, J.S. (1997). Presence of fetal DNA in maternal plasma and serum. Lancet 350, 485-487 . 10.1016/S0140-6736(97)02174-0
[12] Lo, Y.M., Zhang, J., Leung, T.N., Lau, T.K., Chang, A.M., and Hjelm, N.M. (1999). Rapid clearance of fetal DNA from maternal plasma. Am JHum Genet 64, 218-224 .10.1086/302205
[13] Lo, Y.M. (2012). Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA. Open Biol 2. (In Press)10.1098/rsob.120086
[14] Lun, F.M.F., Chiu, R.W.K., Chan, K.C.A., Leung, T.Y., Lau, T.K., and Lo, Y.M.D. (2008). Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 54, 1664-1672 . 10.1373/clinchem.2008.111385
[15] Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., . (2005) First-trimester or second trimester screening, or both, for Down’s syndrome. N Engl J Med 353, 2001-2011 . 10.1056/NEJMoa043693
[16] Mandel, P., and Metais, P. (1948). Les acides nucleiques du plasm sanguine chez I’homme . C.R. Acad Sci Paris 142, 241-243 .
[17] Palomaki, G.E., Deciu, C., Kloza, E.M., Lambert-Messerlian, G.M., Haddow, J.E., Neveux, L.M., Ehrich, M., van den Boom, D., Bombard, A.T., Grody, W.W., . (2012). DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Gene Med 14, 296-305 10.1038/gim.2011.73
[18] Rhodes, A., Wort, S.J., Thomas, H., Collinson, P., and Bennett, E.D. (2006). Plasma DNA concentration as a predictor of mortality and sepsis in critically ill patients. Crit Care 10, R60.10.1186/cc4894
[19] Stroun, M., Lyautey, J., Lederrey, C., Olson-Sand, A., and Anker, P.( 2001). About the possible origin and mechanism of circulating DNA apoptosis and active DNA release. Clin Chim Acta 313, 139-142 .10.1016/S0009-8981(01)00665-9
[20] Sykes, P.J., Neoh, S.H., Brisco, M.J., Hughes, E., Condon, J., and Morley, A.A. (1992). Quantitation of targets for PCR by use of limiting dilution. Biotechniques 13, 444-449 .
[21] Vogelstein, B., and Kinzler K.W. (1999). Digital PCR. Proc Natl Acad Sci U S A 96, 9236-9241 .10.1073/pnas.96.16.9236
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