Genetic Testing in Reproductive Medicine

• Autore: Singh Rajender
• Pubblicazione: Singapore : , : Springer, , 2024; ©2023
• Edizione: 1st ed.
• Descrizione fisica: 1 online resource (321 pages)
• Disciplina: 618.04075
• Altri autori: Singh
• Nota di contenuto: Intro -- Preface -- Acknowledgments -- Contents -- Editor and Contributors -- 1: Genetic Testing in Disorders of Sexual Development -- 1.1 Introduction -- 1.2 Genetics of Sexual Differentiation and Development -- 1.3 Disorders of Sexual Development -- 1.3.1 Sex Chromosome DSD -- 1.3.2 46,XY DSD -- 1.3.3 46,XX DSD -- 1.3.4 Other Forms of DSDs -- 1.4 Genetic Testing in DSDs -- 1.4.1 Cytogenetic Analysis -- 1.4.2 SNP Arrays, Comparative Genomic Hybridization, and Next-Generation Sequencing -- 1.4.3 Fertility Potential and Counseling/Treatment Options -- 1.5 Conclusions and Future Perspective -- References -- 2: Y-Chromosome Deletion Testing in Infertility -- 2.1 Introduction -- 2.2 Y-Chromosome Microdeletions -- 2.2.1 Classical Deletions -- 2.2.2 Partial Deletions -- 2.3 Why Screen for Y-Deletions? -- 2.3.1 The European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) Recommend Y-Deletion ... -- 2.3.2 Y-Deletion Screening Helps in Selecting the Method of Treatment -- 2.4 Methods for Screening Y-Deletions -- 2.5 Type of Sample for Y-Deletion Testing -- 2.6 Y-Deletion Testing Is Required for Offering Genetic Counselling -- 2.7 Conclusions and Future Perspective -- References -- 3: Genetic Testing in Male Infertility -- 3.1 Introduction -- 3.2 Various Types of Genetic Abnormalities -- 3.2.1 Numerical Chromosomal Abnormalities -- 3.2.2 Structural Chromosomal Abnormalities -- 3.2.3 Single-Nucleotide Polymorphisms -- 3.2.3.1 Androgen Receptor (AR) Gene -- 3.2.3.2 Follicle-Stimulating Hormone Receptor (FSHR) Gene -- 3.2.3.3 Glutathione S-Transferase (GST) Gene -- 3.2.3.4 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations Leading to CBAVD Risk -- 3.2.3.5 Methylenetetrahydrofolate Reductase (MTHFR) Gene -- 3.2.3.6 Deleted in Azoospermia-Like (DAZL) Gene -- 3.2.3.7 FAS/FASL Gene. ; 3.2.3.8 DNA Polymerase Subunit Gamma (POLG) Gene -- 3.2.3.9 Estrogen Receptor (ESR) and Male Infertility -- 3.3 Diagnostic Techniques -- 3.4 Conclusion and Future Perspectives -- References -- 4: Sperm DNA Fragmentation Testing in Infertility -- 4.1 Introduction -- 4.2 Significance of Sperm DNA Integrity in Male Fertility -- 4.3 Contemporary Sperm Chromatin Integrity Tests -- 4.3.1 Sperm Chromatin Maturation (CM) and Condensation Assessments -- 4.3.1.1 Staining with Toluidine Blue (TB) -- 4.3.1.2 Chromomycin A3 (CMA3) Assay -- 4.3.1.3 Aniline Blue Staining -- 4.3.2 Sperm DNA Fragmentation Index (DFI) Assessments -- 4.3.2.1 Terminal Deoxynucleotidyl Transferase dUTP Nick-End Labeling (TUNEL) Assay -- 4.3.2.2 Sperm Chromatin Dispersion (SCD) Test/Halosperm Assay -- 4.3.2.3 Sperm Chromatin Structure Assay (SCSA) -- 4.3.2.4 Comet Assay -- 4.3.2.5 Measurement of 8-Hydroxy-2-Deoxyguanosine (8-OHdG) -- 4.3.2.6 Acridine Orange Dye -- 4.4 Impediments in Sperm Chromatin Integrity Testing -- 4.4.1 Limiting Factors in Sperm Chromatin Integrity Testing -- 4.4.2 Disparity in Universal Predictive Value for Sperm DNA Fragmentation -- 4.5 Conclusions -- 4.6 Future Perspective -- References -- 5: Microbiome Testing in Male Infertility -- 5.1 Introduction -- 5.2 Testing of Semen Microbiota -- 5.3 Semen Microbiota, Infertility, and Assisted Reproduction -- 5.4 Therapeutic Approaches for Male Infertility -- 5.5 Conclusions and Future Perspective -- References -- 6: Genetic Testing in Polycystic Ovary Syndrome -- 6.1 Introduction -- 6.2 Inheritance of PCOS -- 6.3 Genetic Predisposition to PCOS -- 6.3.1 Candidate Gene Studies -- 6.3.1.1 CYP11A -- 6.3.1.2 CYP11B -- 6.3.1.3 CYP17 -- 6.3.1.4 CYP19 -- 6.3.1.5 CYP21 -- 6.3.1.6 AR -- 6.3.1.7 LHCGR -- 6.3.1.8 CAPN10 -- 6.3.1.9 IRS-1 -- 6.3.2 Genome-Wide Association Studies -- 6.3.2.1 GWAS 1 -- 6.3.2.2 GWAS 2 -- 6.3.2.3 GWAS 3. ; 6.3.2.4 GWAS 4 -- 6.3.2.5 GWAS 5 -- 6.3.2.6 GWAS 6 -- 6.3.2.7 GWAS 7 -- 6.3.2.8 GWAS 8 -- 6.4 Genetic Testing in PCOS in Clinical Settings -- 6.5 Conclusions and Future Perspective -- References -- 7: Genetic Testing in Premature Ovarian Failure -- 7.1 Introduction -- 7.2 Genetic Testing in POF -- 7.2.1 Karyotyping -- 7.2.2 Candidate Gene Sequencing -- 7.2.2.1 Oocyte-Specific Transcription Factors Genes -- 7.2.2.2 Folliculogenesis Growth Factor Genes -- 7.2.2.3 Ovarian Steroidogenesis Genes -- 7.2.3 Genome-Wide Association Studies (GWAS) -- 7.2.4 Next-Generation Sequencing (NGS) -- 7.2.5 Array Comparative Genomic Hybridization (Array CGH) -- 7.2.6 Microarray Analysis -- 7.3 Conclusions and Future Perspective -- References -- 8: Microbiome Testing in Female Infertility -- 8.1 Introduction -- 8.2 Female Genital Tract Microbiota -- 8.3 Dysbiosis: Milieu in Gynecological Diseases and Infertility -- 8.4 Gut Microbiome in Reproductive Health and Fertility -- 8.5 Classical Diagnostic Methods -- 8.6 PCR Techniques: Targeting Dysbiosis -- 8.7 Next-Generation Sequencing-Based Diagnosis -- 8.8 High-Throughput Metabolomics -- 8.9 Conclusions and Future Perspective -- References -- 9: Preimplantation Genetic Testing -- 9.1 Introduction -- 9.2 Indications for PGT -- 9.3 Embryo Sampling Techniques -- 9.3.1 Polar Body Biopsy -- 9.3.2 Cleavage Stage or Blastomere Biopsy -- 9.3.3 Blastocyst/Trophectoderm Biopsy -- 9.4 Factors Influencing PGT Results -- 9.5 Diagnostic Approaches to Evaluate Embryo Biopsies -- 9.6 Work Flow of PGT -- 9.7 Preimplantation Genetic Testing for Aneuploidies (PGT-A) -- 9.8 Incidence of Aneuploidy in Preimplantation Embryos -- 9.9 The Efficacy of PGT-A -- 9.10 Embryo Mosaicism -- 9.11 Transferring Mosaic Embryos in the Absence of Alternatives -- 9.12 Preimplantation Genetic Testing for Structural Rearrangements. ; 9.13 Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) -- 9.14 Preimplantation HLA Typing -- 9.15 Noninvasive Preimplantation Genetic Testing (NiPGT) -- 9.16 Conclusions and Future Perspective -- References -- 10: Mitochondrial DNA Testing in Assisted Reproduction -- 10.1 Introduction -- 10.2 Mitochondrial Functions in Oocytes and Preimplantation Embryos -- 10.3 The mtDNA Content -- 10.4 Evidence Against the Utility of mtDNA Testing -- 10.5 Mitochondrial DNA Content in Fresh and Frozen Embryos -- 10.6 Mitochondrial DNA Content and Its Relation to Recurrent Implantation Failure (RIF) -- 10.7 Mitochondrial DNA Content and Its Relation to Recurrent Pregnancy Loss -- 10.8 Mitochondrial DNA Content and Its Relation to Embryo Fragmentation -- 10.9 Mitochondrial DNA Content and Its Relation to Ploidy Status -- 10.10 Mitochondria Transfer as a Tool for Improvement of Embryo Quality and Infertility Treatment -- 10.11 Mitochondrial DNA Content as a Biomarker of Implantation Potential -- 10.12 mtDNA Testing in Clinics -- 10.13 Conclusions and Future Perspective -- References -- 11: Genetic Testing for Endometrial Receptivity -- 11.1 Introduction -- 11.2 Endometrial Receptivity: The Unsung Hero -- 11.3 Metabolic and Immunological Determinants of Endometrial Receptivity -- 11.4 Molecular Signaling in Endometrial Receptivity -- 11.5 Gene Expression Alterations in Endometrial Receptivity -- 11.6 miRNAs: Important Players in Endometrial Receptivity -- 11.7 Classical Methods of Evaluating Endometrial Receptivity -- 11.8 Gene Expression Profiling -- 11.9 Metagenomics as an Emerging Tool in Endometrial Receptivity -- 11.10 Conclusions and Future Perspective -- References -- 12: Prenatal Genetic Testing -- 12.1 Introduction -- 12.2 Prenatal Screening Tests -- 12.2.1 Noninvasive Prenatal Screening (NIPS). ; 12.2.2 Prenatal Diagnostic Testing: Invasive Prenatal Diagnosis -- 12.2.2.1 Indications for Invasive Prenatal Testing -- 12.2.2.2 Chorionic Villus Sampling -- 12.2.2.3 Amniocentesis -- 12.2.2.4 Diagnostic Approaches in Invasive Prenatal Testing -- 12.2.2.4.1 Rapid Aneuploidy Testing -- 12.2.2.4.2 Fluorescent In Situ Hybridization (FISH) -- 12.2.2.4.3 Quantitative Fluorescence-Polymerase Chain Reaction (QF-PCR) -- 12.2.2.4.4 Conventional Karyotyping -- 12.2.2.4.5 Chromosomal Microarray -- 12.2.2.4.5.1 Recommendations for the Use of CMA -- 12.3 Next-Generation Sequencing (NGS) -- 12.4 Conclusion and Future Perspective -- References -- 13: Genetic Testing in Recurrent Pregnancy Loss -- 13.1 Introduction -- 13.2 Genetic Analysis of the Product of Conception (POC) -- 13.2.1 Fluorescence In Situ Hybridization (FISH) -- 13.2.2 Array Comparative Genomic Hybridization (aCGH) -- 13.2.3 NGS Approach -- 13.2.4 Maternal Plasma Cell Free Fetal (Cff) DNA Testing -- 13.3 Parental Genetic Analysis -- 13.3.1 Peripheral Blood Karyotyping -- 13.3.2 Single Gene Defects -- 13.4 Genetic Testing as a Diagnostic Tool and Therapy in RPL -- 13.5 Conclusions and Future Perspective -- References -- 14: Genetic Testing in Pregnancy to Assess the Risk of Preterm Birth -- 14.1 Introduction -- 14.2 Familial and Obstetric Histories Suggest Genetic Risk Factors -- 14.3 Genetics of PTB Risk -- 14.3.1 Racial/Ethnic Divergence and Genetic Predisposition -- 14.3.2 Role of Genetic Variations in PTB Risk -- 14.3.3 Epigenetic Factors -- 14.3.4 Vaginal Microbiome and PTB Risk -- 14.4 Genetic Testing in Pregnancy for PTB Risk -- 14.5 Conclusions and Future Perspective -- References -- 15: Reproductive Carrier Screening -- 15.1 Introduction -- 15.2 Premarital/Preconception Screening -- 15.3 Hemoglobinopathies -- 15.4 Fragile X Syndrome (FXS) -- 15.5 Cystic Fibrosis. ; 15.6 Spinal Muscular Atrophy.
• Titolo autorizzato: Genetic Testing in Reproductive Medicine
• ISBN: 981-9970-28-8
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910842286703321
• Lo trovi qui: Univ. Federico II