Prenatal Diagnosis

ISBN-13: 9781493988877 / Angielski / Twarda / 2018 / 363 str.

Brynn Levy

Opis

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.

Spis treści

Preface…

Table of Contents…

Contributing Authors….

Part I Historical Introduction

1. Traditional Prenatal Diagnosis: Past to Present

Brynn Levy and Melissa Stosic

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

Joe Leigh Simpson, Anver Kuliev, and Svetlana Rechitsky

3. Non-Invasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions

Lisa Hui

Part II Preimplantation Genetic Testing

4. Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders

Rebekah S. Zimmerman, Jennifer Eccles, Chaim Jalas, Nathan R. Treff, and Richard T. Scott, Jr.

5. Detection of Aneuploidy and Unbalanced Rearrangements using Comparative Genomic Hybridization Microarrays

Lorena Rodrigo and Carmen Rubio

6. Aneuploidy Screening using Next Generation Sequencing

Cengiz Cinnioglu, Refik Kayali, Tristan Darvin, Adedoyin Akinwole, Milena Jaukowska, and Gary Harton

Part III Traditional Prenatal Diagnosis

7. DNA Extraction from Various Types of Prenatal Specimens

Odelia Nahum, Amanda Thomas, and Brynn Levy

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

Christie Buchovecky, Odelia Nahum, and Brynn Levy

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

Anja Weise and Thomas Liehr

10. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR

Kathy Mann, Erwin Petek, and Barbara Pertl

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

Jan Schouten, Paul van Vught, and Robert-Jan Galjaard

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

Ankita Patel

13. Prenatal Diagnosis using Chromosomal SNP Microarrays

Mythily Ganapathi, Odelia Nahum, and Brynn Levy

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

Joanne Traeger-Synodinos, Christina Vrettou, and Emmanuel Kanavakis

15. Prenatal Diagnosis of Cystic Fibrosis

Anastasia M. Fedick, Jinglan Zhang, Lisa Edelmann, and Ruth Kornreich

16. Prenatal Diagnosis of Tay-Sachs Disease

Jinglan Zhang, Hongjie Chen, Ruth Kornreich, and Chunli Yu

17. Next-Generation Sequencing of Prenatal Structural Chormosomal Rearrangements using Large-Insert Libraries

Benjamin B. Currall, Caroline W. Antolik, Ryan L. Collins, and Michael E. Talkowski

18. Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities

Vanessa Felice, Avinash Abhayankar, and Vaidehi Jobanputra

Part IV Non-Invasive Prenatal Testing

19. Quad Screen Test, A Multiplexed Biomarker Assay for Prenatal Screening to Assess Birth Defects: The Columbia University Experience using the Beckman Access2 Immunoassay Analyzer and Benetech PRA

Awet Tecleab, Alex Lyashchenko, and Alex J. Rai

20. Isolation of Cell-Free DNA from Maternal Plasma

James Stray and Bernhard Zimmermann

21. Noninvasive Detection of Fetal Aneuploidy using Next-Generation Sequencing

Kirsten J. Curnow, Rebecca K. Sanderson, and Sue Beruti

22. Noninvasive Antenatal Screening for Fetal RHD in RhD Negative Women to Guide Targeted Anti-D Prophylaxis

Frederik Banch Clausen, Klaus Rieneck, Grethe Risum Krog, Birgitte Suhr Bundgaard, and Morten Hanefeld Dziegiel

Blurb

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.