Prenatal Diagnosis

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