Table of contents
About this book
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.
cytogenomics chromosomal microarray analysis (CMA) nuchal translucency (NT) next generation sequencing (NGS) single nucleotide variations (SNVs) preimplantation genetic testing
Editors and affiliations
- DOI https://doi.org/10.1007/978-1-4939-8889-1
- Copyright Information Springer Science+Business Media, LLC, part of Springer Nature 2019
- Publisher Name Humana Press, New York, NY
- eBook Packages Springer Protocols
- Print ISBN 978-1-4939-8887-7
- Online ISBN 978-1-4939-8889-1
- Series Print ISSN 1064-3745
- Series Online ISSN 1940-6029
- Buy this book on publisher's site