Practical Preimplantation Genetic Diagnosis

Practical Preimplantation Genetic Diagnosis by Anver Kuliev.

Although treatment remains the major goal in the control of genetic disease, this is not yet a reality for most inherited conditions. In the absence of radical treatment, preimplantation genetic diagnosis (PGD) offers the answer to the control of these inherited conditions by predicting reproductive...

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Bibliographic Details
Main Author: Kuliev, Anver (Author)
Corporate Author: SpringerLink (Online service)
Format: eBook
Language:English
Published: London : Springer London : Imprint: Springer, 2013.
Edition:2nd ed. 2013.
Series:Springer eBook Collection.
Subjects:
Reproductive medicine.
Human genetics.
Obstetrics.
Gynecology .
Laboratory medicine.
Electronic resources (E-books)
Online Access:Click to view e-book
Holy Cross Note:Loaded electronically.
Electronic access restricted to members of the Holy Cross Community.
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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