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