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Prenatal Diagnosis

  • Book
  • © 2019

Overview

Editors:
  1. Brynn Levy

    1. Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, USA

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  • Includes cutting-edge methods and protocols
  • Provides step-by-step detail essential for reproducible results Contains key notes and implementation advice from the experts

Part of the book series: Methods in Molecular Biology (MIMB, volume 1885)

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Table of contents (23 protocols)

  1. Front Matter

    Pages i-xi
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  2. Historical Introduction

    1. Front Matter

      Pages 1-1
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    2. Traditional Prenatal Diagnosis: Past to Present

      • Brynn Levy, Melissa Stosic
      Pages 3-22

    3. Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

      • Joe Leigh Simpson, Anver Kuliev, Svetlana Rechitsky
      Pages 23-43

    4. Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions

      • Lisa Hui
      Pages 45-58

  3. Preimplantation Genetic Testing

    1. Front Matter

      Pages 59-59
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    2. Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders

      • Rebekah S. Zimmerman, Jennifer Eccles, Chaim Jalas, Nathan R. Treff, Richard T. Scott Jr.
      Pages 61-71

    3. Detection of Aneuploidy and Unbalanced Rearrangements Using Comparative Genomic Hybridization Microarrays

      • Lorena Rodrigo Vivó, Carmen Rubio Lluesa
      Pages 73-84

    4. Aneuploidy Screening using Next Generation Sequencing

      • Cengiz Cinnioglu, Refik Kayali, Tristan Darvin, Adedoyin Akinwole, Milena Jakubowska, Gary Harton
      Pages 85-102

  4. Traditional Prenatal Diagnosis

    1. Front Matter

      Pages 103-103
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    2. DNA Extraction from Various Types of Prenatal Specimens

      • Odelia Nahum, Amanda Thomas, Brynn Levy
      Pages 105-116

    3. Assessment of Maternal Cell Contamination in Prenatal Samples by Quantitative Fluorescent PCR (QF-PCR)

      • Christie M. Buchovecky, Odelia Nahum, Brynn Levy
      Pages 117-127

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

      • Anja Weise, Thomas Liehr
      Pages 129-137

    5. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR

      • Kathy Mann, Erwin Petek, Barbara Pertl
      Pages 139-160

    6. Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies

      • Jan Schouten, Paul van Vught, Robert-Jan Galjaard
      Pages 161-170

    7. Chromosomal Microarray Analysis Using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling

      • Ankita Patel
      Pages 171-186

    8. Prenatal Diagnosis Using Chromosomal SNP Microarrays

      • Mythily Ganapathi, Odelia Nahum, Brynn Levy
      Pages 187-205

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

      • Joanne Traeger-Synodinos, Christina Vrettou, Emmanuel Kanavakis
      Pages 207-219

    10. Prenatal Diagnosis of Cystic Fibrosis

      • Anastasia M. Fedick, Jinglan Zhang, Lisa Edelmann, Ruth Kornreich
      Pages 221-231

    11. Prenatal Diagnosis of Tay-Sachs Disease

      • Jinglan Zhang, Hongjie Chen, Ruth Kornreich, Chunli Yu
      Pages 233-250
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Keywords

About this book

This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.



Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.


Editors and Affiliations

  • Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, USA

    Brynn Levy

Bibliographic Information

  • Book Title: Prenatal Diagnosis

  • Editors: Brynn Levy

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-4939-8889-1

  • Publisher: Humana New York, NY

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media, LLC, part of Springer Nature 2019

  • Hardcover ISBN: 978-1-4939-8887-7Published: 01 December 2018

  • eBook ISBN: 978-1-4939-8889-1Published: 30 November 2018

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 2

  • Number of Pages: XI, 363

  • Number of Illustrations: 7 b/w illustrations, 28 illustrations in colour

  • Topics: Molecular Medicine

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