Prenatal Diagnosis

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. Front Matter ....Pages i-xi Front Matter ....Pages 1-1 Traditional Prenatal Diagnosis: Past to Present (Brynn Levy, Melissa Stosic)....Pages 3-22 Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction (Joe Leigh Simpson, Anver Kuliev, Svetlana Rechitsky)....Pages 23-43 Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions (Lisa Hui)....Pages 45-58 Front Matter ....Pages 59-59 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 Detection of Aneuploidy and Unbalanced Rearrangements Using Comparative Genomic Hybridization Microarrays (Lorena Rodrigo Vivó, Carmen Rubio Lluesa)....Pages 73-84 Aneuploidy Screening using Next Generation Sequencing (Cengiz Cinnioglu, Refik Kayali, Tristan Darvin, Adedoyin Akinwole, Milena Jakubowska, Gary Harton)....Pages 85-102 Front Matter ....Pages 103-103 DNA Extraction from Various Types of Prenatal Specimens (Odelia Nahum, Amanda Thomas, Brynn Levy)....Pages 105-116 Assessment of Maternal Cell Contamination in Prenatal Samples by Quantitative Fluorescent PCR (QF-PCR) (Christie M. Buchovecky, Odelia Nahum, Brynn Levy)....Pages 117-127 Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH) (Anja Weise, Thomas Liehr)....Pages 129-137 Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR (Kathy Mann, Erwin Petek, Barbara Pertl)....Pages 139-160 Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies (Jan Schouten, Paul van Vught, Robert-Jan Galjaard)....Pages 161-170 Chromosomal Microarray Analysis Using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling (Ankita Patel)....Pages 171-186 Prenatal Diagnosis Using Chromosomal SNP Microarrays (Mythily Ganapathi, Odelia Nahum, Brynn Levy)....Pages 187-205 Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes (Joanne Traeger-Synodinos, Christina Vrettou, Emmanuel Kanavakis)....Pages 207-219 Prenatal Diagnosis of Cystic Fibrosis (Anastasia M. Fedick, Jinglan Zhang, Lisa Edelmann, Ruth Kornreich)....Pages 221-231 Prenatal Diagnosis of Tay-Sachs Disease (Jinglan Zhang, Hongjie Chen, Ruth Kornreich, Chunli Yu)....Pages 233-250 Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries (Benjamin B. Currall, Caroline W. Antolik, Ryan L. Collins, Michael E. Talkowski)....Pages 251-265 Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities (Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra)....Pages 267-285 Isolation and Characterization of Amniotic Fluid-Derived Extracellular Vesicles for Biomarker Discovery (Blake Ebert, Alex J. Rai)....Pages 287-294 Front Matter ....Pages 295-295 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 K. Lyashchenko, Alex J. Rai)....Pages 297-307 Isolation of Cell-Free DNA from Maternal Plasma (James Stray, Bernhard Zimmermann)....Pages 309-323 Noninvasive Detection of Fetal Aneuploidy Using Next Generation Sequencing (Kirsten J. Curnow, Rebecca K. Sanderson, Sue Beruti)....Pages 325-345 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, Morten Hanefeld Dziegiel)....Pages 347-359 Back Matter ....Pages 361-363