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Prenatal Diagnosis

  • Book
  • © 2008

Overview

Editors:
  1. Sinuhe Hahn

    1. Laboratory for Prenatal Medicine and Gynecological Oncology, Department of Biomedicine, University Womens’s Hospital, Basel

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    You can also search for this editor in PubMed   Google Scholar

  2. Laird G. Jackson

    1. Department of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • 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

Part of the book series: Methods in Molecular Biology (MIMB, volume 444)

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Table of contents (25 protocols)

  1. Front Matter

    Pages i-xiv
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  2. Invasive Approaches

    1. Front Matter

      Pages 1-1
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    2. Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics

      • Susanne Mergenthaler-Gatfield, Wolfgang Holzgreve, Sinuhe Hahn
      Pages 3-26

    3. Characterization of Prenatally Assessed De Novo Small Supernumerary Marker Chromosomes by Molecular Cytogenetics

      • Thomas Liehr
      Pages 27-38

    4. Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH)

      • Anja Weise, Thomas Liehr
      Pages 39-48

    5. Application of Multi-PRINS to Simultaneously Identify Chromosomes 18, X, and Y in Prenatal Diagnosis

      • Macoura Gadji, Kada Krabchi, Ju Yan, Règen Drouin
      Pages 49-58

    6. Prenatal Diagnosis Using Array CGH

      • Catherine D. Kashork, Aaron Theisen, Lisa G. Shaffer
      Pages 59-70

    7. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR

      • Kathy Mann, Erwin Petek, Barbara Pertl
      Pages 71-94

    8. Real-Time Quantitative PCR for the Detection of Fetal Aneuploidies

      • Bernhard G. Zimmermann, Lech Dudarewicz
      Pages 95-109

    9. MLPA for Prenatal Diagnosis of Commonly Occurring Aneuploidies

      • Jan Schouten, Robert-Jan Galjaard
      Pages 111-122

    10. MALDI-TOF Mass Spectrometry for Trisomy Detection

      • Dorothy J. Huang, Matthew R. Nelson, Wolfgang Holzgreve
      Pages 123-132

    11. Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes

      • Joanne Traeger-Synodinos, Christina Vrettou, Emmanuel Kanavakis
      Pages 133-145

    12. Rapid Detection of Fetal Mendalian Disorders: Tay-Sachs Disease

      • Esther Guetta, Leah Peleg
      Pages 147-159

    13. Arrayed Primer Extension Reaction for Genotyping on Oligonucleotide Microarray

      • Janne Pullat, Andres Metspalu
      Pages 161-167

    14. A Fast Microelectronic Array for Screening and Prenatal Diagnosis of β-Thalassemia

      • Barbara Foglieni, Silvia Galbiati, Maurizio Ferrari, Laura Cremonesi
      Pages 169-182

  3. Noninvasive Approaches

    1. Front Matter

      Pages 184-184
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    2. RHD Genotyping from Maternal Plasma: Guidelines and Technical Challenges

      • Neil D. Avent
      Pages 185-201

    3. Isolation of Cell-Free DNA from Maternal Plasma Using Manual and Automated Systems

      • Dorothy J. Huang, Susanne Mergenthaler-Gatfield, Sinuhe Hahn, Wolfgang Holzgreve, Xiao Yan Zhong
      Pages 203-208

    4. Fetal DNA: Strategies for Optimal Recovery

      • Tobias J. Legler, Klaus-Hinrich Heermann, Zhong Liu, Aicha Ait Soussan, C. Ellen van der Schoot
      Pages 209-218

    5. Quantification of Circulatory Fetal DNA in the Plasma of Pregnant Women

      • Bernhard G. Zimmermann, Deborah G. Maddocks, Neil D. Avent
      Pages 219-229
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Keywords

About this book

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.

Reviews

From the 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)

Editors and Affiliations

  • Laboratory for Prenatal Medicine and Gynecological Oncology, Department of Biomedicine, University Womens’s Hospital, Basel

    Sinuhe Hahn

  • Department of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia

    Laird G. Jackson

Bibliographic Information

  • Book Title: Prenatal Diagnosis

  • Editors: Sinuhe Hahn, Laird G. Jackson

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-59745-066-9

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 2008

  • Hardcover ISBN: 978-1-58829-803-4Published: 05 May 2008

  • Softcover ISBN: 978-1-61737-787-7Published: 19 November 2010

  • eBook ISBN: 978-1-59745-066-9Published: 19 April 2008

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XIV, 331

  • Number of Illustrations: 37 b/w illustrations, 1 illustrations in colour

  • Topics: Pediatrics, Obstetrics/Perinatology/Midwifery, Human Genetics, Cell Biology, Molecular Medicine

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