Prenatal Diagnosis (Methods in Molecular Biology, Vol. 444)

Description

• Contains cutting edge techniques which greatly expand the depth and scope of classical invasive prenatal diagnosis
• Features a totally unique focus on novel non-invasive approaches for prenatal diagnosis
• Will also be 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

With molecular biology now allowing greater accuracy in prenatal diagnosis given amounts of fetal material as small as single cells, a major current focus has grown in the development of rapid, cost-effective diagnoses. In Prenatal Diagnosis, top experts provide cutting edge applications for the rapid assessment of fetal aneuploidies and Mendelian disorders on fetal material gained by invasive approaches, as well as procedures being validated for routine, non-invasive clinical analysis of cell free fetal DNA. Following the Methods in Molecular Biology™ series format, the chapters feature step-by-step laboratory protocols, lists of the necessary materials, and tips on troubleshooting and avoiding known pitfalls.

Thorough and state-of-the-art, Prenatal Diagnosis is an ideal volume for researchers and molecular biologists invested in ever-growing field of prenatal medicine.

Reviews:

"This comprehensive book describes invasive and noninvasive techniques for diagnosing various chromosomal and genetic disorders prenatally. … the book was written for molecular biologists and those involved in research in the area of prenatal medicine. … has a consistent style to convey the information, making each chapter readable and relatable to the previous chapters. … as a compilation of techniques and a description of the situations in prenatal medicine in which each technique might be useful, this is an excellent and detailed resource."
(Gilad A. Gross, Doody’s Review Service, August, 2008)

Table of Contents

• 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 prenatal diagnosis 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. Method for the extraction of high quantity and quality cell-free DNA from amniotic fluid
  Olav Lapaire, Kirby L. Johnson, and Diana W. Bianchi
• 25. Detection of new screening markers for fetal aneuploidies in maternal plasma: A proteomic approach
  Chinnapapagari Satheesh Kumar Reddy, Wolfgang Holzgreve and Sinuhe Hahn