Main description:

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.

Contents:

Preface...Table of Contents...Contributing Authors....
Part I Historical Introduction
1. Traditional Prenatal Diagnosis: Past to PresentBrynn Levy and Melissa Stosic
2. Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future DirectionJoe Leigh Simpson, Anver Kuliev, and Svetlana Rechitsky
3. Non-Invasive Approaches to Prenatal Diagnosis: Historical Perspective and Future DirectionsLisa Hui
Part II Preimplantation Genetic Testing
4. Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene DisordersRebekah 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 MicroarraysLorena Rodrigo and Carmen Rubio
6. Aneuploidy Screening using Next Generation SequencingCengiz 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 SpecimensOdelia 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 PCRKathy Mann, Erwin Petek, and Barbara Pertl
11. Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common AneuploidiesJan 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 SamplingAnkita Patel
13. Prenatal Diagnosis using Chromosomal SNP MicroarraysMythily Ganapathi, Odelia Nahum, and Brynn Levy
14. Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell SyndromesJoanne Traeger-Synodinos, Christina Vrettou, and Emmanuel Kanavakis
15. Prenatal Diagnosis of Cystic FibrosisAnastasia M. Fedick, Jinglan Zhang, Lisa Edelmann, and Ruth Kornreich
16. Prenatal Diagnosis of Tay-Sachs DiseaseJinglan Zhang, Hongjie Chen, Ruth Kornreich, and Chunli Yu
17. Next-Generation Sequencing of Prenatal Structural Chormosomal Rearrangements using Large-Insert LibrariesBenjamin B. Currall, Caroline W. Antolik, Ryan L. Collins, and Michael E. Talkowski
18. Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound AbnormalitiesVanessa 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 PRAAwet Tecleab, Alex Lyashchenko, and Alex J. Rai
20. Isolation of Cell-Free DNA from Maternal PlasmaJames Stray and Bernhard Zimmermann
21. Noninvasive Detection of Fetal Aneuploidy using Next-Generation SequencingKirsten J. Curnow, Rebecca K. Sanderson, and Sue Beruti
22. Noninvasive Antenatal Screening for Fetal RHD in RhD Negative Women to Guide Targeted Anti-D ProphylaxisFrederik Banch Clausen, Klaus Rieneck, Grethe Risum Krog, Birgitte Suhr Bundgaard, and Morten Hanefeld Dziegiel