Prenatal Diagnosis

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.

Includes cutting-edge methods and protocols Provides step-by-step detail essential for reproducible results Contains key notes and implementation advice from the experts

Inhalt
Traditional Prenatal Diagnosis: Past to Present.- Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction.- Non-Invasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions.- Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders.- Detection of Aneuploidy and Unbalanced Rearrangements using Comparative Genomic Hybridization Microarrays.- Aneuploidy Screening using Next Generation Sequencing.- DNA Extraction from Various Types of Prenatal Specimens.- Assessment of Maternal Cell Contamination in Prenatal Samples by Quantitative Fluorescent PCR (QF-PCR).- Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH).- Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.- Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies.- Chromosomal Microarray Analysis using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling.- Prenatal Diagnosis using Chromosomal SNP Microarrays.- Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes.- Prenatal Diagnosis of Cystic Fibrosis.- Prenatal Diagnosis of Tay-Sachs Disease.- Next-Generation Sequencing of Prenatal Structural Chormosomal Rearrangements using Large-Insert Libraries.- Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.- 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.- Isolation of Cell-Free DNA from Maternal Plasma.- Noninvasive Detection of Fetal Aneuploidy using Next-Generation Sequencing.- Noninvasive Antenatal Screening for Fetal RHD in RhD Negative Women to Guide Targeted Anti-D Prophylaxis.