Abstract
It has been a long-sought goal of human genetics to develop safe and reliable prenatal diagnostic procedures that constitute no risk to the fetus. At present, the safety of available methods is limited by the need to obtam fetal tissues through invasive means, such as chorlomc villus sampling (CVS) and amniocentesis, which constitute a risk to the fetus. One potential noninvasive approach for prenatal diagnosis is to use fetal cells that have entered into maternal circulation during pregnancy as a source of fetal material for analysis.
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References
Lo, Y. M. D. (1994) Nonmvasive prenatal diagnosis using fetal cells in maternal blood. J. Clin. Pathol. 47, 1060ā1065.
Simpson, J. L. and Elias, S. (1993) Isolating fetal cells from maternal blood: advances in prenatal diagnosis through molecular technology. JAMA 270, 2357ā2361.
Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., et al. (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239, 487ā491.
Lo, Y. M. D., Patel, P., Wainscoat, J. S., Sampietro, M., Gillmer, M. D. G., and Fleming, K. A. (1989) Prenatal sex determination by DNA amplification from maternal peripheral blood. Lancet 2, 1363ā1365.
Kao, S. M., Tang, G C., Hsieh, T. T., Young, K. C., Wang, H. C., and Pao, C. C. (1992) Analysis of peripheral blood of pregnant women for the presence of fetal Y chromosome-specific ZFY gene deoxyribonucleic acid sequences Am J. Obstet. Gynecol. 166, 1013ā1019.
Hamada, H., Arinami, T., Kubo, T., Hamaguchi, H., and Iwasaki, H. (1993) Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age. Hum. Genet. 91, 427ā432.
Lo, Y. M. D. (1994) Detection of minority nucleic acid populations by PCR-a review. J. Pathol. 174, 1ā6.
Camaschella, C., Alfarano, A., Gottardi, E., Travi, M., Primignani, P., Caligaris, C. F., and Saglio, G. (1990) Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood. Blood 75, 2102ā2106.
Lo, Y. in D., Bowell, P. J., Selinger, M., MacKenzie, I. Z., Chamberlain, P., Gillmer, et al. (1993) Prenatal determination of fetal RhD status by analysis of peripheral blood of rhesus negative mothers. Lancet 341, 1147,1148.
Lo, Y. M. D., Noakes, L., Bowell, P. J., Fleming, K. A., and Wamscoat, J. S. (1994) Detection of fetal RhD sequence from peripheral blood of sensitised RhDnegative pregnant women. Br. J. Haematol. 87, 658ā660.
Colin, Y., Cherif-Zahar, B., Le Van Kim, C., Raynal, V., van Huffel, V., and Cartron, J.-P. (1991) Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood 78, 2747ā2752.
Le Van Kim, C., Mouro, I., Cherif-Zahar, B., Raynal, V., Cherrier, C., Cartron, J.-P., and Cohn, Y. (1992) Molecular cloning and primary structure of the human blood group RhD polypeptide. Proc. Natl Acad. Sci. USA 89, 10,925ā10,929.
Newton, C. R., Graham, A., Heptinstall, L. E., Powell, S. J., Summers, C., Kalsheker, N., et al. (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 17, 2503ā2516.
Lo, Y. M. D., Patel, P., Newton, C. R., Markham, A. F., Fleming, K. A., and Wainscoat, J. S. (1991) Direct haplotype determination by double ARMS: specificity, sensitivity and genetic applications. Nucleic Acids Res. 19, 3561ā3567.
Lo, Y. M. D., Fleming, K. A., and Wainscoat, J. S. (1994) Strategies for the detection of autosomal fetal DNA sequence from maternal peripheral blood. Ann. NY Acad. Sci. 731, 204ā213.
Bianchr, D. W., Flint, A. F., Pizzimenti, M. F., Knoll, J. H., and Latt, S. A. (1990) Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc. Natl. Acad. Sci. USA 87, 3279ā3283.
Price, J. O., Elias, S., Wachtel, S. S., Klinger, K., Dockter, M., Tharapel, A., et al. (1991) Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry. Am J Obstet. Gynecol. 165, 1731ā1737.
Bianchi, D. W., Zickwolf, G. K., Yih, M. C., Flint, A. F., Geifman, O. H., Erikson, M. S., and Williams, J in (1993) Erythroid-specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood. Prenat Dzagn. 13, 293ā300.
Ganshnt-Ahlert, D., Borjesson-Stall, R., Burschyk, M., Dohr, A., Garritsen, H. S. P., Helmer, E., et al. (1993) Detection of fetal tnsomres 21 and 18 from maternal blood using triple gradient and magnetic cell sorting. AJRI 30, 193ā200.
Zheng, Y. L., Carter, N P., Price, C. M., Colman, S. M., Milton, P. J., Hackett, G. A., et al. (1993) Prenatal diagnosis from maternal blood: simultaneous mununophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting. J. Med Genet. 30, 1051ā1056.
Bianchi, D W., Mahr, A, Zmkwolf, G. K., Houseal, T W., Flint, A. F., and Klinger, K. W. (1992) Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood. Hum Genet. 90, 368ā370
Ebas, S., Price, J., Dockter, M., Wachtel, S., Tharapel, A., and Simpson, J L (1992) First trimester prenatal diagnosis of trrsomy 2 1 in fetal cells from maternal blood. Lancet 340, 1033.
Geifman-Holtzman, O., Holtzman, E. J., Vadnais, T J., Phillips, V. E., Capeless, E. L., and Bianchi, D. W. (1995) Detection of fetal HLA-DQ-alpha sequences in maternal blood-a gender-independent technique of fetal cell identification Prenat Dzagn. 15, 261ā268.
Chou, Q., Russell, M., Birch, D. E., Raymond, J., and Bloch, W. (1992) Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications. Nucleic Aczds Res 20, 1717ā1723
Arnemann, J., Epplen, J. T., Cooke, H. J., Sauermann, U., Engel, W., and Schmidtke, J. (1987) A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res 15, 8713ā8724
Mamatis, T., Fritsch, E. F., and Sambrook, J. (1982) Molecular Clonzng: A Laboratory Manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.
Lo, Y. M. D., Mehal, W. Z., and Fleming, K A. (1988) False-positive results and the polymerase chain reaction. Lancet 2, 679.
Kwok, S. and Higuchi, R. (1989) Avoiding false positives with PCR. Nature 339, 237,238.
Lo, Y M. D., Schmidtke, J., Wainscoat, J. S., and Fleming, K. A. (1994) An improved PCR-based system for prenatal sex determination from maternal peripheral blood. Ann. NYAcad Sci. 731, 214ā216.
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Ā© 1996 Humana Press Inc., Totowa, NJ
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Lo, Y.M.D. (1996). Noninvasive Prenatal Diagnosis Using Fetal Cells in Maternal Blood. In: Elles, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicineā¢, vol 5. Humana Press. https://doi.org/10.1385/0-89603-346-5:237
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DOI: https://doi.org/10.1385/0-89603-346-5:237
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