| Description |
1 online resource (xii, 163 pages) : illustrations (chiefly color) |
| Contents |
Cover -- Half Title -- Title Page -- Copyright Page -- Contents -- Foreword -- Editors -- Contributors -- 1. Preimplantation Genetic Testing and Reproductive Genetics from a Physician's Perspective -- Introduction -- Cytogenetic Testing -- Multiple-Gene NGS Panels -- Description of Molecular Genetic Methods Used in the "PANDA" Panel Clinically at Repromeda, Brno, Czech Republic -- Cystic Fibrosis -- Spinal Muscular Atrophy -- Deafness (Mutation in Connexin 26) -- Fragile X Syndrome -- Diagnosis of Other Potential Fertility Disorders -- Genetic Testing of Gamete Donors |
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Therapeutic Procedures for Fertility Disorders and Genetic Defect Risks Using Genetic Methods -- PGT-A -- Mosaicism -- Genetic Methods to Detect the Window of Implantation -- Genetic Testing in the Surrogacy Program -- Genetic Methods in the Control of Therapeutic Results -- Summary -- References -- 2. Genetic Counseling for Preimplantation Genetic Testing -- Introduction -- Training, Certification, and Licensure -- Definition, Process, and Principles of Genetic Counseling -- Main Components of Genetic Counseling for PGT -- Genetic Counseling for Preimplantation Genetic Testing |
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PGT for Aneuploidy (PGT-A) -- PGT for Monogenic Disease (PGT-M) -- PGT for Structural Rearrangements (PGT-SR) -- Laboratory Genetic Counseling Services -- Additional Roles for Genetic Counselors in an ART Setting -- Means of Incorporating Genetic Counseling Services into an ART Clinic -- How Can I Find a Genetic Counselor? -- References -- 3. Preimplantation Genetic Testing for Aneuploidies: Where We Are and Where We're Going -- Introduction -- Brief History -- Looking Forward -- The Impact of Sampling Methods on PGT-A and the Advantages of Vitrification -- Polar Body Biopsy |
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Cleavage-Stage (Blastomere) Biopsy -- Blastocyst-Stage (Trophectoderm) Biopsy -- The Impact of Vitrification and "Freeze-All" Strategies -- Technical Issues with Chromosome Analysis -- Fluorescence In-Situ Hybridization -- The Need for Whole-Genome Amplification to Facilitate 24-Chromosome Screening -- Comparative Genomic Hybridization -- Array-CGH -- Next-Generation Sequencing -- Real-Time Quantitative PCR -- Single-Nucleotide Polymorphism Arrays -- Karyomapping and Haplarthymisis -- Aneuploidy and Mosaicism-What We Know -- Aneuploidy -- Segmental Aneuploidy -- Chromosomal Mosaicism in Embryos |
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Mosaicism Detection and Its Clinical Implications -- Mitochondrial DNA and Its Role in PGT-A -- The Prospects for Noninvasive PGT-A -- Blastocentesis -- Analysis of Spent Culture Medium -- How Sensitive Is niPGT-A Regarding Segmental Deletions/Duplications, and Mosaicism? -- Morphokinetics and Time-Lapse for Aneuploidy Detection -- Conclusions -- Declaration of Interests -- References -- 4. Preimplantation Genetic Testing for Structural Rearrangements -- Introduction -- The Origin and the Types of Balanced Rearrangements -- Reciprocal Translocations -- Robertsonian Translocations -- Inversions |
| Summary |
Preimplantation genetic testing (PGT) is now well established as a valuable treatment option for patients wishing to start or continue a family, for a range of indications from advanced maternal age to high risk of transmitting inherited disease. This text brings together contemporary thinking from international opinion leaders and will be an invaluable guide for practitioners in Reproductive Medicine wishing to keep pace with the latest developments and clinical data |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Darren K Griffin, PhD, DSc, FRSA, FRSB, FRCPath, is Professor of Genetics at the School of Biosciences, University of Kent, Canterbury, UK, President of the International Chromosome and Genome Society, and Director of the Centre for Interdisciplinary Studies of Reproduction. Gary Harton, PhD, is Chief Operating Office for US Operations at iGenomix USS, LLC: he has worked for over 20 years in both laboratory and clinical management in the IVF field and has served on a number of international committees including the ESHRE PGD Consortium and the UK Steering Committee for External Quality Assessment |
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Online resource; title from digital title page (viewed on June 25, 2020) |
| Subject |
Preimplantation genetic diagnosis.
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Fertilization in vitro, Human.
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Human reproductive technology.
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Reproductive technology.
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Preimplantation Diagnosis
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Fertilization in Vitro
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Reproductive Techniques
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Reproductive Techniques, Assisted
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MEDICAL -- General.
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MEDICAL -- Gynecology & Obstetrics.
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MEDICAL -- Perinatology & Neonatology.
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Reproductive technology.
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Fertilization in vitro, Human
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Human reproductive technology
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Preimplantation genetic diagnosis
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| Form |
Electronic book
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| Author |
Griffin, Darren K., editor
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Harton, Gary L., editor
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| ISBN |
9780429820311 |
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0429820313 |
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9780429445972 |
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0429445970 |
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9780429820304 |
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0429820305 |
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9780429820298 |
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0429820291 |
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