Skip to main content

Noninvasive Prenatal Diagnosis Using Fetal Cells in Maternal Blood

  • Protocol
Molecular Diagnosis of Genetic Diseases

Part of the book series: Methods in Molecular Medicineā„¢ ((MIMM,volume 5))

  • 451 Accesses

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Lo, Y. M. D. (1994) Nonmvasive prenatal diagnosis using fetal cells in maternal blood. J. Clin. Pathol. 47, 1060ā€“1065.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  2. Simpson, J. L. and Elias, S. (1993) Isolating fetal cells from maternal blood: advances in prenatal diagnosis through molecular technology. JAMA 270, 2357ā€“2361.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  3. 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, 487ā€“491.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  4. 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, 1363ā€“1365.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  5. 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, 1013ā€“1019.

    PubMedĀ  CASĀ  Google ScholarĀ 

  6. 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, 427ā€“432.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  7. Lo, Y. M. D. (1994) Detection of minority nucleic acid populations by PCR-a review. J. Pathol. 174, 1ā€“6.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  8. 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, 2102ā€“2106.

    PubMedĀ  CASĀ  Google ScholarĀ 

  9. 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.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  10. 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, 658ā€“660.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  11. 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, 2747ā€“2752.

    PubMedĀ  CASĀ  Google ScholarĀ 

  12. 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, 10,925ā€“10,929.

    ArticleĀ  Google ScholarĀ 

  13. 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, 2503ā€“2516.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  14. 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, 3561ā€“3567.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  15. 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, 204ā€“213.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  16. 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, 3279ā€“3283.

    ArticleĀ  Google ScholarĀ 

  17. 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, 1731ā€“1737.

    PubMedĀ  CASĀ  Google ScholarĀ 

  18. 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, 293ā€“300.

    ArticleĀ  CASĀ  Google ScholarĀ 

  19. 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, 193ā€“200.

    Google ScholarĀ 

  20. 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, 1051ā€“1056.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  21. 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, 368ā€“370

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  22. 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.

    ArticleĀ  Google ScholarĀ 

  23. 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, 261ā€“268.

    ArticleĀ  CASĀ  Google ScholarĀ 

  24. 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, 1717ā€“1723

    ArticleĀ  CASĀ  Google ScholarĀ 

  25. 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, 8713ā€“8724

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  26. Mamatis, T., Fritsch, E. F., and Sambrook, J. (1982) Molecular Clonzng: A Laboratory Manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.

    Google ScholarĀ 

  27. Lo, Y. M. D., Mehal, W. Z., and Fleming, K A. (1988) False-positive results and the polymerase chain reaction. Lancet 2, 679.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  28. Kwok, S. and Higuchi, R. (1989) Avoiding false positives with PCR. Nature 339, 237,238.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  29. 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, 214ā€“216.

    CASĀ  Google ScholarĀ 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

Ā© 1996 Humana Press Inc., Totowa, NJ

About this protocol

Cite this protocol

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

Download citation

  • DOI: https://doi.org/10.1385/0-89603-346-5:237

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-346-7

  • Online ISBN: 978-1-59259-589-1

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics