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Practical Preimplantation Genetic Diagnosis


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Table of Contents

Primary prevention of genetic disorders and place of preimplantation diagnosis.- Approaches to preimplantation diagnosis.- Obtaining Biopsy Material.- Polar Body Diagnosis.- Pre-embryonic Genetic Diagnosis (PEGD).- Preconception Testing for Paternally Derived Mutations by Sperm Duplication.- Development of artificial human gametes in vitro.- Embryo Biopsy.- Single cell genetic analysis.- DNA Analysis.- FISH Analysis.- Microarray analysis.- Preimplation diagnosis for single gene disorders.- Autosomal Recessive Diseases.- Autosomal Dominant Disorders.- X-linked disorders.- Homozygous or Double Heterozygous Recessive Conditions.- Conditions with No Available Direct Mutation Testing.- De Novo Mutations.- Late-onset disorders with genetic predisposition.- Inherited Predisposition to Cancer.- Alzheimer Disease.- Inherited Cardiac Diseases.- Blood Group Incompatibility.- Congenital Malformations.- Currarino Triad.- Dynamic Mutations.- Overall Experience of PGD for Mendelian Disorders.- PGD for HLA typing.- Fanconi Anemia.- World's First PGD for HLA Typing.- Thalassemia.- Immunodeficiencies.- Preimplantation HLA Matching without PGD.- Limitations and future prospect of PGD for HLA Typing.- Practical Implications of PGD for HLA Typing.- Preimplantation diagnosis for chromosomal disorders.- First Polar Body Morphological Grading as Possible Potential Means for Preselecting Viable Oocytes.- Aneuploidy in human oocytes.- Testing for both meiosis I and meiosis II errors required for PGD of aneuploidies.- Inconsistency between Aneuploidy Types Predicted by PB1 and Detected by Cleavage Stage Testing.- Complex Errors and Aneuloidy Rescue in Female Meiosis.- Chromosome Specific Meiotic Error Origin and Its Impact on Embryo Viability.- Mitotic Errors in Cleaving Embryos in Relation to Meiosis Errors.- PCR-based aneuploidy testing in cleaving embryos.- Practical Relevance of Autosomal Monosomy Detection.- Uniparental Disomies.- Impact of PB Testing in Detection and Avoidance of Aneuploid Embryos for Transfer.- Chromosomal rearrangements.- Polar Boby Approach.- Blastomere Nuclear Conversion by Fusion with Mouse Oocytes.- Chemical Conversion Method.- Clinical outcome of preimplantation genetic diagnosis.- Safety of PGD.- Diagnostic Accuracy of PGD.- Reproductive outcome of PGD.- Controversy in Assessing Clinical Outcome of Preimplantation Aneuploidy Testing.- Reproductive Outcome Before and after PGD in Same Couples.- Possible Impact of Aneuploidy Origin.- Possible Impact of 24 Chromosome Aneuploidy Testing.- Preimplantation diagnosis and establishment of disease and individual specific human embryonic stem cell lines.- Sources for Establishing Human Embryonic Stem Cell Lines.- Human Embryonic Stem Cell Lines with Genetic Disorders.- Human Embryonic Stem Cell Lines with Chromosomal Disorders.- Genetic Disease Specific Human Embryonic Stem Cell Lines.- Development of individual specific hESC lines.- Human Embryonic Stem Cell Lines Resistant to HIV.- Progress in Study of Disease specific hESC Lines.- Social, ethical and legal aspects.

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