BOOK
Reproductive Genetics, An Issue of Obstetrics and Gynecology Clinics, E-Book
(2018)
Additional Information
Book Details
Abstract
This issue provides a timely update for for the ob/gyn on genetics in reproductive medicine. Dr. Dugoff has created an issue with the goals of providing the most currently clinical information on genetic screening and prenatal genetics. Top authors have written reviews on the following topics: Genetic counseling overview for the ob/gyn; Cell-free DNA screening for aneuploidy; Cell-free DNA screening for single gene disorders; The use of microarray in prenatal diagnosis; Whole exome sequencing: Applications in prenatal diagnosis; Screening for aneuploidy in multiple gestations: The challenges and available options; Expanded carrier screening; Ethnicity-based carrier screening overview; Prenatal genetic diagnosis and prenatal genetic screening; Ethical issues in prenatal genetics; Ultrasound findings and associated genetic syndromes; Hereditary cancers in gynecology: and What physicians should know about genetic testing, screening and risk reduction. Readers will come away with the knowledge they need to diagnose, treat, and manage patients based on the most current evidence and data.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Reproductive Genetics | i | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| CONSULTING EDITOR | iii | ||
| EDITOR | iii | ||
| AUTHORS | iii | ||
| Contents | vii | ||
| Foreword: Update on Reproductive Genetics: What an Obstetrician-Gynecologist Needs to Know | vii | ||
| Preface: Reproductive Genetics | vii | ||
| Genetic Counseling Overview for the Obstetrician-Gynecologist | vii | ||
| Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes | vii | ||
| Cell-Free DNA: Screening for Single-Gene Disorders and Determination of Fetal Rhesus D Genotype | vii | ||
| Screening for Aneuploidy in Multiple Gestations: The Challenges and Options | viii | ||
| The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis | viii | ||
| Whole Exome Sequencing: Applications in Prenatal Genetics | viii | ||
| Ethnicity-Based Carrier Screening | viii | ||
| Expanded Carrier Screening | ix | ||
| Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis | ix | ||
| Key Ethical Issues in Prenatal Genetics: An Overview | ix | ||
| The Status of Genetic Screening in Recurrent Pregnancy Loss | ix | ||
| Hereditary Cancers in Gynecology: What Physicians Should Know About Genetic Testing, Screening, and Risk Reduction | x | ||
| OBSTETRICS AND GYNECOLOGY CLINICS\r | xi | ||
| FORTHCOMING ISSUES | xi | ||
| June 2018 | xi | ||
| September 2018 | xi | ||
| December 2018 | xi | ||
| RECENT ISSUES | xi | ||
| December 2017 | xi | ||
| September 2017 | xi | ||
| June 2017 | xi | ||
| Foreword: Update on Reproductive Genetics: What an Obstetrician-Gynecologist Needs to Know\r | xiii | ||
| Preface:\rReproductive Genetics | xv | ||
| Genetic Counseling Overview for the Obstetrician-Gynecologist | 1 | ||
| Key points | 1 | ||
| INTRODUCTION | 1 | ||
| DEFINITION OF GENETIC COUNSELING | 3 | ||
| Risk Assessment | 3 | ||
| Genetic Testing | 4 | ||
| Pretest Counseling | 5 | ||
| Posttest Counseling | 6 | ||
| Support | 7 | ||
| GENETIC COUNSELING IN CLINICAL PRACTICE | 8 | ||
| Genetic Counseling Models | 9 | ||
| Collaborative Care | 10 | ||
| SUMMARY | 10 | ||
| REFERENCES | 11 | ||
| Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes | 13 | ||
| Key points | 13 | ||
| INTRODUCTION | 13 | ||
| DNA AND HOW IS IT USED FOR SCREENING? | 14 | ||
| DNA SCREENING FOR COMMON AUTOSOMAL TRISOMIES | 15 | ||
| Trisomy 21 | 15 | ||
| Trisomies 13 and 18 | 16 | ||
| Monosomy X (Turner Syndrome) | 16 | ||
| Other Sex Chromosome Aneuploidies | 16 | ||
| CHROMOSOMAL MICRODELETIONS | 17 | ||
| DNA CONTRIBUTION, OR FETAL FRACTION | 17 | ||
| FALSE POSITIVES AND INCIDENTAL FINDINGS | 18 | ||
| PRETEST COUNSELING | 19 | ||
| INDICATIONS FOR CFDNA SCREENING | 21 | ||
| DNA TO TRADITIONAL SCREENING | 21 | ||
| CELL-FREE DNA IN THE OVERALL CONTEXT OF ALL CONGENITAL DISORDERS | 22 | ||
| SUMMARY | 23 | ||
| REFERENCES | 23 | ||
| Cell-Free DNA | 27 | ||
| Key points | 27 | ||
| INTRODUCTION | 27 | ||
| CELL-FREE DNA | 28 | ||
| Screening Technology and Reporting | 28 | ||
| Limitations of Cell-Free DNA | 29 | ||
| SINGLE-GENE DISORDERS | 29 | ||
| AUTOSOMAL DOMINANT DISORDERS | 31 | ||
| X-LINKED AND AUTOSOMAL RECESSIVE CONDITIONS | 32 | ||
| RELATIVE MUTATION DOSING AND EVOLVING TECHNOLOGIES | 32 | ||
| FETAL BLOOD GROUP SYSTEM | 33 | ||
| Rhesus D Genotyping | 33 | ||
| Additional Blood Group Systems | 34 | ||
| SUMMARY | 34 | ||
| REFERENCES | 34 | ||
| Screening for Aneuploidy in Multiple Gestations | 41 | ||
| Key points | 41 | ||
| INTRODUCTION | 41 | ||
| FACTORS ASSOCIATED WITH ANEUPLOIDY IN TWIN GESTATIONS | 42 | ||
| Zygosity | 42 | ||
| Monozygotic twins | 42 | ||
| Dizygotic twins | 42 | ||
| Maternal Age | 43 | ||
| SCREENING METHODS | 43 | ||
| Ultrasonography | 43 | ||
| Nuchal translucency | 43 | ||
| Nasal bone | 44 | ||
| Biochemical Screening | 44 | ||
| First-trimester biochemical screening | 44 | ||
| First-trimester biochemical screening and nuchal translucency | 44 | ||
| Second-trimester biochemical screening | 46 | ||
| First and second-trimester integrated screening | 47 | ||
| Biochemical Screening Summary | 47 | ||
| CELL-FREE DNA SCREENING | 47 | ||
| HIGHER-ORDER MULTIPLES | 49 | ||
| SUMMARY | 49 | ||
| REFERENCES | 50 | ||
| The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis | 55 | ||
| Key points | 55 | ||
| INTRODUCTION | 55 | ||
| CHROMOSOMAL MICROARRAY TECHNOLOGY | 56 | ||
| Oligonucleotide Array Comparative Genomic Hybridization Versus Single Nucleotide Polymorphism Microarray | 56 | ||
| Targeted Versus Whole Genome Arrays | 58 | ||
| CHROMOSOMAL MICROARRAY ANALYSIS REPORTING | 58 | ||
| THE ROLE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PRENATAL DIAGNOSIS | 61 | ||
| Chromosomal Microarray Analysis Versus Karyotype | 61 | ||
| Chromosomal Microarray Analysis as Routine Testing | 61 | ||
| Chromosomal Microarray Analysis in Fetuses with Ultrasound Anomalies | 63 | ||
| Comparison of Diagnostic Testing Versus Screening for Prenatal Surveillance | 63 | ||
| Cell-Free DNA Screening and Microdeletions | 64 | ||
| COUNSELING CONSIDERATION | 64 | ||
| Pretest Counseling | 65 | ||
| Posttest Counseling | 65 | ||
| SUMMARY | 66 | ||
| REFERENCES | 66 | ||
| Whole Exome Sequencing | 69 | ||
| Key points | 69 | ||
| BACKGROUND | 69 | ||
| PRENATAL | 70 | ||
| Therapy | 72 | ||
| CLINICAL INDICATIONS | 73 | ||
| American College of Medical Genetics and Genomics Reportable Variants | 73 | ||
| INTERPRETATION/COUNSELING | 74 | ||
| LIMITATIONS | 75 | ||
| RESEARCH IMPLICATIONS | 75 | ||
| ETHICS | 76 | ||
| COSTS | 76 | ||
| FUTURE ADVANCES | 77 | ||
| REFERENCES | 77 | ||
| Ethnicity-Based Carrier Screening | 83 | ||
| Key points | 83 | ||
| INTRODUCTION | 83 | ||
| DISORDERS | 86 | ||
| Hemoglobinopathies | 86 | ||
| Sickle Cell Disorders | 87 | ||
| α-Thalassemia | 88 | ||
| β-Thalassemia | 89 | ||
| Ashkenazi Jewish Genetic Disorders | 90 | ||
| Tay-Sachs Disease | 91 | ||
| Canavan Disease | 92 | ||
| Cystic Fibrosis | 92 | ||
| Familial Dysautonomia | 92 | ||
| Fanconi Anemia Group C | 92 | ||
| Niemann-Pick Disease Type A | 93 | ||
| Bloom Syndrome | 93 | ||
| Mucolipidosis Type IV | 93 | ||
| Gaucher Disease | 93 | ||
| Cystic Fibrosis | 94 | ||
| Spinal Muscular Atrophy | 94 | ||
| Fragile X Syndrome | 96 | ||
| DISCUSSION | 97 | ||
| REFERENCES | 98 | ||
| Expanded Carrier Screening | 103 | ||
| Key points | 103 | ||
| SCREENING | 103 | ||
| HISTORICAL PERSPECTIVE | 105 | ||
| PURPOSE | 106 | ||
| CARRIER FREQUENCY AND RESIDUAL RISK | 107 | ||
| VARIANTS AND CONDITIONS | 108 | ||
| IMPLEMENTING EXPANDED CARRIER SCREENING | 108 | ||
| Advantages and Disadvantages | 109 | ||
| Counseling | 109 | ||
| Pretest and Posttest Counseling | 110 | ||
| SUMMARY | 111 | ||
| REFERENCES | 111 | ||
| Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis | 113 | ||
| Key points | 113 | ||
| INTRODUCTION | 113 | ||
| BIOPSY TECHNIQUES | 115 | ||
| Polar Body Biopsy | 115 | ||
| Cleavage Stage (Blastomere) Biopsy | 115 | ||
| Trophectoderm Biopsy | 115 | ||
| PREIMPLANTATION GENETIC SCREENING | 116 | ||
| PREIMPLANTATION GENETIC SCREENING PLATFORMS | 116 | ||
| Array Comparative Genomic Hybridization Microarray | 116 | ||
| Single Nucleotide Polymorphism Microarray | 118 | ||
| Quantitative Polymerase Chain Reaction | 118 | ||
| Next-Generation Sequencing | 118 | ||
| PREGNANCY RATES AFTER PREIMPLANTATION GENETIC SCREENING | 119 | ||
| PREIMPLANTATION GENETIC DIAGNOSIS | 120 | ||
| Early Indications | 120 | ||
| Single Gene Disorders and Karyomapping | 120 | ||
| ETHICAL CONSIDERATIONS | 120 | ||
| SUMMARY | 122 | ||
| REFERENCES | 122 | ||
| Key Ethical Issues in Prenatal Genetics | 127 | ||
| Key points | 127 | ||
| INTRODUCTION | 127 | ||
| CHALLENGES INHERENT WITH GENETIC TESTING IN UTERO | 128 | ||
| TECHNOLOGICAL CONSIDERATIONS: IN THEORY AND IN REALITY | 129 | ||
| Actionability | 130 | ||
| Severity | 130 | ||
| Age of Onset | 131 | ||
| Parental Autonomy | 131 | ||
| Access and Regulatory Factors | 132 | ||
| CLINICAL CONSIDERATIONS: INFORMED DECISION MAKING AND CONSENT | 133 | ||
| ACCESS TO CARE | 134 | ||
| SUMMARY | 136 | ||
| REFERENCES | 136 | ||
| The Status of Genetic Screening in Recurrent Pregnancy Loss | 143 | ||
| Key points | 143 | ||
| INTRODUCTION | 143 | ||
| OVERVIEW OF THE GENETIC CAUSES OF RECURRENT PREGNANCY LOSS | 144 | ||
| Numerical Chromosomal Abnormalities | 145 | ||
| Structural Chromosomal Abnormalities | 146 | ||
| Translocations | 147 | ||
| Inversions | 149 | ||
| Other rearrangements | 149 | ||
| Single Nucleotide Polymorphisms and Copy Number Variants Associated with Recurrent Pregnancy Loss | 149 | ||
| EVALUATION OF PRODUCTS OF CONCEPTION | 150 | ||
| MANAGEMENT OPTIONS FOR GENETIC CAUSES OF RECURRENT PREGNANCY LOSS | 151 | ||
| SUMMARY | 152 | ||
| REFERENCES | 152 | ||
| Hereditary Cancers in Gynecology | 155 | ||
| Key points | 155 | ||
| INTRODUCTION | 155 | ||
| HEREDITARY CANCER SYNDROMES | 156 | ||
| Hereditary Breast and Ovarian Cancer | 156 | ||
| Hereditary Ovarian Cancer | 157 | ||
| Lynch Syndrome | 157 | ||
| Polymerase Proofreading Associated Polyposis | 157 | ||
| Cowden Syndrome | 160 | ||
| Peutz-Jeghers Syndrome | 160 | ||
| Li-Fraumeni Syndrome | 161 | ||
| IDENTIFICATION OF HIGH-RISK WOMEN | 161 | ||
| SCREENING STRATEGIES | 164 | ||
| Breast Cancer Screening | 164 | ||
| Ovarian Cancer Screening | 166 | ||
| Endometrial Cancer Screening | 167 | ||
| Cervical Cancer Screening | 167 | ||
| RISK-REDUCTION STRATEGIES | 167 | ||
| Hereditary Breast and Ovarian Cancer | 167 | ||
| Hereditary Ovarian Cancer | 168 | ||
| Lynch Syndrome | 169 | ||
| Polymerase Proofreading Associated Polyposis | 169 | ||
| Cowden Syndrome | 169 | ||
| Peutz-Jeghers Syndrome | 169 | ||
| Li-Fraumeni Syndrome | 169 | ||
| SUMMARY | 169 | ||
| REFERENCES | 170 |