Prenatal Diagnosis

  • Brynn Levy

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

Table of contents

  1. Front Matter
    Pages i-xi
  2. Historical Introduction

  3. Preimplantation Genetic Testing

    1. Front Matter
      Pages 59-59
    2. Rebekah S. Zimmerman, Jennifer Eccles, Chaim Jalas, Nathan R. Treff, Richard T. Scott Jr.
      Pages 61-71
    3. 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
    2. Odelia Nahum, Amanda Thomas, Brynn Levy
      Pages 105-116
    3. Kathy Mann, Erwin Petek, Barbara Pertl
      Pages 139-160
    4. Mythily Ganapathi, Odelia Nahum, Brynn Levy
      Pages 187-205
    5. Joanne Traeger-Synodinos, Christina Vrettou, Emmanuel Kanavakis
      Pages 207-219
    6. Anastasia M. Fedick, Jinglan Zhang, Lisa Edelmann, Ruth Kornreich
      Pages 221-231
    7. Jinglan Zhang, Hongjie Chen, Ruth Kornreich, Chunli Yu
      Pages 233-250
    8. Benjamin B. Currall, Caroline W. Antolik, Ryan L. Collins, Michael E. Talkowski
      Pages 251-265
    9. Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra
      Pages 267-285
  5. Non-Invasive Prenatal Testing

    1. Front Matter
      Pages 295-295
    2. James Stray, Bernhard Zimmermann
      Pages 309-323
    3. Kirsten J. Curnow, Rebecca K. Sanderson, Sue Beruti
      Pages 325-345
    4. Frederik Banch Clausen, Klaus Rieneck, Grethe Risum Krog, Birgitte Suhr Bundgaard, Morten Hanefeld Dziegiel
      Pages 347-359
  6. Back Matter
    Pages 361-363

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.


cytogenomics chromosomal microarray analysis (CMA) nuchal translucency (NT) next generation sequencing (NGS) single nucleotide variations (SNVs) preimplantation genetic testing

Editors and affiliations

  • Brynn Levy
    • 1
  1. 1.Department of Pathology and Cell Biology, Vagelos College of Physicians and SurgeonsColumbia University Irving Medical CenterNew YorkUSA

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media, LLC, part of Springer Nature 2019
  • Publisher Name Humana Press, New York, NY
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-4939-8887-7
  • Online ISBN 978-1-4939-8889-1
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site
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