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Investigating Infertility
Juan A Garcia-Velasco, Manish Banker, Rohit Gutgutia
CHAPTER 1:
Basics of Human Reproduction: As We Understand It Now
INTRODUCTION
HISTORY
MALE REPRODUCTIVE SYSTEM
Spermatogenesis (Flowchart 1.2)
Sperm Maturation and Transport
FEMALE REPRODUCTIVE SYSTEM
Oogenesis (Flowchart 1.3)
Physiology of Menstruation
Follicular Phase
Ovulation
Luteal Phase
FERTILIZATION
Sperm Capacitation
Zona Binding
Acrosomal Reaction
Zona Reaction (Cortical Reaction)
Completion of Meiosis and Zygote Formation
UTERUS, ENDOMETRIUM, AND IMPLANTATION
Layers of Endometrium
Endometrial Changes during an Ovulatory Menstrual Cycle
Menstrual Phase
Proliferative Phase
Secretory Phase
Fate of Endometrium after Secretory Phase (Flowchart 1.7)
Endometrial Preparation for Implantation
Implantation
NEUROENDOCRINOLOGY
Neurohormone/Gonadotropin-Releasing Hormone
Gonadotropin (FSH and LH)
Prolactin
Thyroid Hormone
GENETICS IN REPRODUCTION
Genetic Tests of Infertile Couple
Karyotyping
Y-Chromosome Microdeletion Test
Cystic Fibrosis Gene Mutation
Fragile X Mental Retardation 1 Gene Mutation
IMMUNOLOGY IN REPRODUCTION
CONCLUSION
CHAPTER 2:
Role of History Taking and Clinical Examination in an Infertile Couple
INTRODUCTION
BEFORE WE START HISTORY TAKING OF THE INFERTILE COUPLE
HISTORY TAKING AND CLINICAL EXAMINATION OF THE MALE
General Information
Fertility History
Family History
General History
Urogenital History
History of Sexually Transmitted Diseases (STD)
Surgical History Related to Infertility
Habits
Sexual History
Physical Examination
General Examination
Urogenital Examination
HISTORY TAKING AND CLINICAL EXAMINATION OF THE FEMALE
Present History
Menstrual History11
Obstetric History
Contraceptive History
Sexual History
Past History
Family History
General Examination11
CONCLUSION
CHAPTER 3:
Preconceptional Evaluation of a Couple
INTRODUCTION
EVIDENCE-BASED EFFECTIVENESS
PRECONCEPTION CARE: TIMING IS KEY
CHAPTER 4:
Assessing Ovulatory Function and Ovarian Reserve
INTRODUCTION
NORMAL PHYSIOLOGY
Menstrual Cycle Charting
Basal Body Temperature (BBT) Monitoring
Changes in Cervical Mucus and Its Testing
Changes in Endometrium and Endometrial Biopsy
Changes in Vagina and Vaginal Cytology
Hormonal Assays
Serum or Urinary LH
Urinary FSH
Estrogen Assays
Progesterone Assays
Other Assays
Transvaginal Ultrasound
OVARIAN RESERVE
Ovarian Reserve Tests
Age
Menstrual Age
Previous Failed Cycle
Follicle-Stimulating Hormone
Luteinizing Hormone
FSH:LH Ratio
Estradiol
Inhibin A and B
Endocrine Dynamic Tests
Clomiphene Citrate Challenge Test (CCCT)
Gonadotrophin Analogue Stimulating Test
Exogenous FSH Ovarian Reserve Test
ULTRASOUND
Antral Follicular Count
Ovarian Volume
Ovarian Blood Flow
Others
Previous Cancelled Cycles
Ovarian Biopsy
CHAPTER 5:
Tubal Evaluation: An Eternal Dilemma
INTRODUCTION
ANATOMY AND PHYSIOLOGY
TUBAL EVALUATION
Hysterosalpingogram
Sonosalpingography
Hysterosalpingo Contrast Sonography
Laparoscopy
CHAPTER 6:
Mechanical Issues in Fertility: How to Evaluate?
INTRODUCTION
EPIDEMIOLOGY
Mechanical Causes of Infertility
MECHANICAL CAUSES IN FEMALE INFERTILITY
Cervical Stenosis
Causes
Symptoms
Location
Impact on Infertility
Evaluation
Treatment
Vaginismus
Fibroid/Leiomyoma/Myoma
Introduction
Classification of Uterine Fibroids
Symptoms
Diagnosis
Asherman's Syndrome
Endometriosis
Pelvic Adhesions
MECHANICAL CAUSES IN MALE INFERTILITY (Table 6.2)
Obstructive Azoospermia (Obstructions in the Ductal System)
Causes
Ejaculatory Disorders
Coital and Deposition Problems
Evaluation of Mechanical Issues in Male Infertility
History
Semen Analysis
Postejaculatory Urine Analysis
Physical Examination
Endocrine Evaluation
Ultrasound
Testicular Biopsy
Genetic Evaluation
CONCLUSION
CHAPTER 7:
How to Assess the Receptivity of the Human Endometrium?
ENDOMETRIAL FACTOR AND ITS IMPORTANCE IN ASSISTED REPRODUCTIVE TECHNIQUES
DIAGNOSIS OF ENDOMETRIAL RECEPTIVITY
Histological Criteria and Their Use in Reproductive Medicine
Diagnosis of the Menstrual Cycle
Ultrasound
Luteinizing Hormone Surge
Morphological Markers: Pinopodes
Biochemical Markers
Proteins
Lipids
Immunological Studies
ENDOMETRIAL TRANSCRIPTOMICS
IMPROVING ENDOMETRIAL RECEPTIVITY ASSESSMENT THROUGH PERSONALIZED MEDICINE
CHAPTER 8:
Evaluating the Peritoneal/Pelvic Factors Affecting Fertility
INTRODUCTION
EVALUATION OF FEMALE INFERTILITY
Assessment of Tuboperitoneal Factor
Tubal Factor
OTHER DIAGNOSTIC PROCEDURES FOR EVALUATING TUBAL INFERTILITY AND ENDOMETRIOSIS
Medical History and Tuboperitoneal Infertility
Transvaginal Examination and Ultrasonography
Chlamydia Testing
Methods to Detect Tuberculosis (TB)
Hysterosalpingography and Hysterosalpingo- Contrast-Sonography (HyCoSy)
Tubal Cannulation with Advanced HSG and Tubal Assessment Categories
MANAGEMENT IMPLICATIONS OF CATEGORIZATION OF TUBES
TUBAL CANNULATION AND SELECTIVE SALPINGOGRAPHY
Hysterosalpingo-Contrast-Sonography
Saline Intraperitoneal Sonogram (SIPS)
Diagnostic Laparoscopy
Laparoscopy and Infective Pathology
Laparoscopy and Endometriosis
EVALUATION OF PERITONEAL FLUID IN WOMEN WITH ENDOMETRIOSIS
POSTSURGICAL ADHESIONS
SECOND LOOK OR REPEAT LAPAROSCOPY
REPEAT LAPAROSCOPY FOR RECURRENT ENDOMETRIOSIS
DISCUSSION
TAKE-HOME MESSAGE
CHAPTER 9:
Assessment of the Male
INTRODUCTION
HISTORY
Azoospermia
Isolated Asthenozoospermia
Oligoasthenoteratozoospermia
Sexual History
EXAMINATION
INVESTIGATIONS
Semen Analysis
Hormone Tests
Sonographic Evaluation
Antisperm Antibody Testing
Sperm DNA Integrity Testing
Genetic Tests
Other Specialized Tests
CONCLUSION
CHAPTER 10:
Role of Semen Analysis in Understanding Fertility Potential
HISTORY/BACKGROUND
SEMEN ANALYSIS
Diagnosis of Male Fertility by Semen Analysis
Routine Semen Analysis
Collection of the Sample
Liquefaction
Macroscopic Parameters7
Viscosity
Semen Volume
pH
Microscopic Parameters
Sperm Concentration
CUT-OFF REFERENCE VALUES AND CLASSIFICATION OF SEMEN SAMPLES
LIMITATION OF SEMEN ANALYSIS
CONTROVERSIES
IMPLICATION OF WHO CRITERIA
Global Decline in Male Infertility
Effect of Referral for Assessment of Male Partner Decreases
Application
WHAT ROUTINE SEMEN ANALYSIS CANNOT ASSESS?
SPERM Function TESTS
Sperm Vitality Test
Hypo-osmotic Swelling
Antisperm Antibody Assay
Tests for Antibodies on Spermatozoa (Direct Tests)
Tests for Antisperm Antibodies in Sperm-free Fluids (Indirect Test)
Sperm Chromatin Integrated Assay
Reactive Oxygen Species
FUTURE OF ANDROLOGY LABORATORY
CONCLUSION
SUMMARY
CHAPTER 11:
Genetics of Fertility
INTRODUCTION TO ROUTINE GENETIC TESTS IN FERTILITY
CYTOGENETIC ASPECTS OF INFERTILITY
Couples with Abnormal Karyotype
Numerical Chromosomal Abnormalities
Structural Chromosome Abnormalities
Risk Factors for Aneuploid Conceptions
Advanced Age
Infertility
Recurrent Pregnancy Loss
GENETIC ASPECTS OF INFERTILITY
Genetic Aspects of Infertility in Males
Y-chromosome Microdeletions and Male Infertility
Genetic Aspects of Infertility in Females
Factor V Leiden
Factor II/Prothrombin Mutation
Methylenetetrahydrofolate Reductase (MTHFR) Gene
Preimplantation Genetic Diagnosis
Preimplantation Genetic Screening
Advanced Maternal Age
Recurrent Pregnancy Loss
Repetitive Implantation Failure
Severe Male Factor
Preimplantation Genetic Diagnosis for Single-Gene Disorders
CHAPTER 12:
When to Stop Investigating and Start Treating?
INTRODUCTION
ROLE OF FURTHER INVESTIGATIONS
Male Factor Investigations
Female Factor Investigations
Assessment of Ovulation and Ovarian Reserve Tests
Assessment of Uterus and Tubes
TREATMENT OPTIONS
Expectant Management and Lifestyle Changes
Laparoscopy as a Treatment
Intrauterine Insemination as a Treatment
IVF or ICSI as a Treatment
CONCLUSION
INDEX
TOC
Index
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