List of Contents Methods in Molecular Biology: Prenatal Diagnosis: Preface Sinuhe Hahn Part I: Invasive approaches: 1. Spectral Karyotyping (SKY): Applications in prenatal diagnostics Susanne Mergenthaler-Gatfield, Wolfgang Holzgreve and Sinuhe Hahn 2. Characterization of prenatally assessed de novo small supernumerary marker chromosomes (sSMC) by molecular cytogenetics Thomas Liehr 3. Rapid prenatal aneuploidy screening by fluorescence in situ hybridization (FISH) Anja Weise and Thomas Liehr 4. Application of multi-PRINS to simultaneously identify chromosomes 18, X and Y in prenatal diagnosis Macoura Gadji, Kada Krabchi, Ju Yan, and Régen Drouin 5. Prenatal diagnosis using array CGH Catherine D. Kashork, Aaron Theisen and Lisa G. Shaffer 6. Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR Kathy Mann, Erwin Petek and Barbara Pertl 7. Real-time quantitative PCR for the detection of fetal aneuploidies Bernhard Zimmermann and Lech Dudarewicz 8. MLPA for prenatal diagnosis of common occurring aneuploidies Jan Schouten and Robert-Jan Galjaard 9. MALDI-TOF mass spectrometry for trisomy detection Dorothy Huang, Matthew R. Nelson and Wolfgang Holzgreve 10. Rapid detection of fetal mendelian disorders: Thalassemia and sickle cell syndromes Joanne Traeger-Synodinos, Christina Vrettou and Emmanuel Kanavakis 11. Rapid detection of of fetal mendelian disorders: Tay-Sachs disease Esther Guetta and Leah Peleg 12. Arrayed primer extension reaction for genotyping on oligonucleotide microarray Janne Pullat and Andres Metspalu 13. A fast microelectronic array for screening and prenataldiagnosis of beta-thalasemia Barbara Foglieni, Silvia Galbiati, Maurizio Ferrari, and Laura Cremonesi Part 2: Noninvasive approaches 14. RHD genotyping from maternal plasma: Guidelines and technical challenges Neil D. Avent 15. Isolation of cell-free DNA from maternal plasma using manual and automated systems Dorothy J. Huang, Susanne Mergenthaler-Gatfield, Sinuhe Hahn, Wolfgang Holzgreve and Xiao Yan Zhong 16. Fetal DNA - strategies for optimal recovery Tobias J. Legler, Klaus-Hinrich Heermann, Zhuir Liu, Aicha Ait Soussan, and Ellen C. van der Schoot 17. Quantification of circulatory fetal DNA in the plasma of pregnant women Bernhard G. Zimmermann, Deborah G Maddocks, and Neil Avent 18. Detection and quantification of fetal DNA in maternal plasma using LightCycler Technology Yuditiya Purwosunu, Akihiko Sekizawa, and Takashi Okai 19. Size fractionation of cell-free DNA in maternal plasma and its application in non-invasive detection of fetal single gene point mutations Ying Li, Wolfgang Holzgreve and Sinuhe Hahn 20. MALDI-TOF mass spectrometry for analyzing cell-free fetal DNA in maternal plasma Chunming Ding 21. Isolation of cell-free RNA from maternal plasma Xiao Yan Zhong, Wolfgang Holzgreve, and Dorothy J. Huang 22. A microarray approach for systematic identification of placental-derived RNA markers in maternal plasma Nancy B. Y. Tsui and Y. M. Dennis Lo 23. A novel method to identify syncytiotrophoblast-derived RNA products representative of trisomy 21 placental RNA in maternal plasma Attie T. J. J. Go, Allerdien Visser, Marie van Dijk, Monique A. M. Mulders, Paul Eijk, Bauke Ylstra, Marinus A. Blankenstein, John M. G. van Vugt, and Cees B. M. Oudejans 24.
In this thorough and state-of-the-art book, top experts provide cutting edge techniques which greatly expand the depth and scope of classical invasive prenatal diagnosis. The book features a totally unique focus on novel non-invasive approaches for prenatal diagnosis. Following the Methods in Molecular Biology(TM) series format, the chapters feature step-by-step laboratory protocols, lists of the necessary materials, and tips on troubleshooting and avoiding known pitfalls.
Contains cutting edge techniques which greatly expand the depth and scope of classical invasive prenatal diagnosis
Totally unique focus on novel non-invasive approaches for prenatal diagnosis
Also of use to cancer researchers since chromosomal rearrangments are important, as is the ability to examine small amounts of material (single cells) or cell-free nucleic acids