Seminars in Fetal & Neonatal Medicine
Volume 13, Issue 2 , Pages 57-62 , April 2008

Recent progress in non-invasive prenatal diagnosis

  • Sinuhe Hahn

      Affiliations

    • Corresponding Author InformationCorresponding author at: Laboratory for Prenatal Medicine and Gynecological Oncology, University Women's Hospital/Department of Research, Hebelstrasse 20, CH4031 Basel, Switzerland. Tel.: +416 1265 9224; fax: +416 1265 9399.
    • ,
  • Xiao Yan Zhong
    • ,
  • Wolfgang Holzgreve

References 

  1. Hahn S, Holzgreve W. Prenatal diagnosis using fetal cells and cell-free fetal DNA in maternal blood: what is currently feasible?. Clin Obstet Gynecol. 2002;45:649–656
  2. Bianchi DW, Avent ND, Costa JM, van der Schoot CE. Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time. Obstet Gynecol. 2005;106:841–844
  3. Chiu RW, Lo YM. The biology and diagnostic applications of fetal DNA and RNA in maternal plasma. Curr Top Dev Biol. 2004;61:81–111
  4. Bianchi DW, Simpson JL, Jackson LG, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002;22:609–615
  5. Hahn S, Sant R, Holzgreve W. Fetal cells in maternal blood: current and future perspectives. Mol Hum Reprod. 1998;4:515–521
  6. Troeger C, Zhong XY, Burgemeister R, et al. Approximately half of the erythroblasts in maternal blood are of fetal origin. Mol Hum Reprod. 1999;5:1162–1165
  7. Cheung MC, Goldberg JD, Kan YW. Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat Genet. 1996;14:264–268
  8. Di NE, Ghezzi F, Vitucci A, et al. Prenatal diagnosis of beta-thalassaemia using fetal erythroblasts enriched from maternal blood by a novel gradient. Mol Hum Reprod. 2000;6:571–574
  9. Garvin AM, Holzgreve W, Hahn S. Highly accurate analysis of heterozygous loci by single cell PCR. Nucleic Acids Res. 1998;26:3468–3472
  10. Babochkina T, Mergenthaler S, De NG, et al. Numerous erythroblasts in maternal blood are impervious to fluorescent in situ hybridization analysis, a feature related to a dense compact nucleus with apoptotic character. Haematologica. 2005;90:740–745
  11. Prieto B, Candenas M, Ladenson JH, Alvarez FV. Comparison of different CD71 monoclonal antibodies for enrichment of fetal cells from maternal blood. Clin Chem Lab Med. 2002;40:126–131
  12. Kolialexi A, Vrettou C, Traeger-Synodinos J, et al. Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment. Prenat Diagn. 2007;27:1228–1232
  13. Coata G, Tilesi F, Fizzotti M, et al. Prenatal diagnosis of genetic abnormalities using fetal CD34+ stem cells in maternal circulation and evidence they do not affect diagnosis in later pregnancies. Stem Cells. 2001;19:534–542
  14. Guetta E, Gutstein-Abo L, Barkai G. Trophoblasts isolated from the maternal circulation: in vitro expansion and potential application in non-invasive prenatal diagnosis. J Histochem Cytochem. 2005;53:337–339
  15. Lo YM, Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet. 2007;8:71–77
  16. Lo YM, Tsui NB, Chiu RW, et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med. 2007;13:218–223
  17. Lo YM, Lun FM, Chan KC, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A. 2007;104:13116–13121
  18. 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 U S A. 2005;102:14753–14758
  19. Tong YK, Ding C, Chiu RW, et al. Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations. Clin Chem. 2006;52:2194–2202
  20. Chan KC, 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;52:2211–2218
  21. Lo YM, 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;62:768–775
  22. Hahn S, Holzgreve W. Fetal cells and cell-free fetal DNA in maternal blood: new insights into pre-eclampsia. Hum Reprod Update. 2002;8:501–508
  23. Lo YM, Lau TK, Zhang J, et al. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem. 1999;45:1747–1751
  24. Zhong XY, Burk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S. Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses. Prenat Diagn. 2000;20:795–798
  25. Zimmermann B, El-Sheikhah A, Nicolaides K, Holzgreve W, Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Clin Chem. 2005;51:1598–1604

PII: S1744-165X(07)00138-2

doi: 10.1016/j.siny.2007.11.001

Seminars in Fetal & Neonatal Medicine
Volume 13, Issue 2 , Pages 57-62 , April 2008

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