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Prenatal Diagnosis

  • Kartonierter Einband
  • 331 Seiten
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In this thorough and state-of-the-art book, top experts provide cutting edge techniques which greatly expand the depth and scope o... Weiterlesen
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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 series format, the chapters feature step-by-step laboratory protocols, lists of the necessary materials, and tips on troubleshooting and avoiding known pitfalls.

Molecular biology has transformed prenatal diagnosis because it permits an accurate diagnosis to be made from very small quantities of fetal material, even single cells. Although the latter permits the analysis of preimplantation embryos and, perhaps in the future, the analysis of fetal cells enriched from maternal blood, a major current focus is to facilitate rapid, cost-effective diagnoses. In this manner, the use of fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR)-based approaches on uncultured amniocytes or chorionic villi already permits a rapid assessment of the most common fetal aneuploidies (chromosomes 13, 18, 21, X, and Y) to be obtained within 24 h, thereby obviating the need for a 2-week culture period previously required for a traditional karyotype. Although the accuracy of karyotypic analysis is greatly enhanced by methodologies such as spectral karyotyping (SKY) or comp- ative genomic hybridization (CGH), the advent of high-density nucleotide arrays (chips) facilitates rapid assessment of the fetal genotype for a large number of mutations of frequent Mendelian disorders, e. g. , cystic fibrosis, the hemoglobinopathies, and Tay-Sachs syndrome. A further focus is the development of noninvasive, and hence, risk-free alternatives for prenatal diagnosis that no longer rely on invasive procedures such as amniocentesis or chorionic villus sampling. The most successful of these approaches is the analysis of placentally derived cell-free DNA in maternal blood.

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


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.

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.


Titel: Prenatal Diagnosis
EAN: 9781617377877
ISBN: 978-1-61737-787-7
Format: Kartonierter Einband
Herausgeber: Springer, Berlin
Genre: Medizin
Anzahl Seiten: 331
Größe: H235mm x B235mm x T155mm
Jahr: 2010
Untertitel: Englisch
Auflage: Softcover reprint of hardcover

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