BOOK
Genetic Screening and Counseling, An Issue of Obstetrics and Gynecology Clinics - E-Book
Anthony R. Gregg | Joe Leigh Simpson
(2010)
Additional Information
Book Details
Abstract
Genetic Screening and Counseling is reviewed in this issue of Obstetrics and Gynecology Clinics, guest edited by Drs. Anthony R. Gregg and Joe Leigh Simpson. Authorities in the field have come together to pen articles on Contemporary Genetics Counseling: New Frontiers and Challenges, Newborn Screening, SMA Carrier Screening, Fragile X, Ashkenazi Jewish Screening in the 21st Century, Thrombophilia in Obstetric Practice, Microarrays in the Practice of Obstetrics and Gynecology, Cancer Genetic Screening, and Cystic Fibrosis.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Contributors | v | ||
| Contents | vii | ||
| Foreword | xiii | ||
| Preface: Genetic Screening and Counseling | xv | ||
| Chapter 1. Contemporary Genetic Counseling | 1 | ||
| CONNECTING WITH GENETIC COUNSELING RESOURCES | 1 | ||
| OBSTETRICIAN GYNECOLOGISTS AS PRIMARY GENETIC COUNSELORS | 3 | ||
| REFERRAL TO GENETIC SERVICES | 3 | ||
| GENETIC COUNSELING IN OBSTETRICS AND GYNECOLOGY | 4 | ||
| FUTURE POTENTIAL WITHIN PERSONALIZED MEDICINE | 8 | ||
| SUMMARY: THE OBSTETRIC GENETIC CONNECTION | 8 | ||
| REFERENCES | 8 | ||
| Chapter 2. Newborn Screening for Treatable Genetic Conditions: Past, Present and Future | 11 | ||
| THE ROLE OF THE OBSTETRICIAN/GYNECOLOGIST | 11 | ||
| HISTORY OF NBS | 12 | ||
| NBS TODAY | 12 | ||
| ETHICAL, SOCIAL AND FINANCIAL ISSUES | 18 | ||
| FUTURE DIRECTIONS | 19 | ||
| SUMMARY | 20 | ||
| REFERENCES | 20 | ||
| Chapter 3. Spinal Muscular Atrophy: Newborn and Carrier Screening | 23 | ||
| CLINICAL FEATURES | 23 | ||
| GENETICS | 24 | ||
| NEWBORN SCREENING | 28 | ||
| CARRIER TESTING | 30 | ||
| SUMMARY | 33 | ||
| ACKNOWLEDGMENTS | 33 | ||
| REFERENCES | 33 | ||
| Chapter 4. Ashkenazi Jewish Screening in the Twenty-first Century | 37 | ||
| HISTORY OF JEWISH POPULATIONS AND GENETIC EFFECTS | 37 | ||
| HISTORY OF JEWISH GENETIC SCREENING AND TESTING | 38 | ||
| THE JEWISH GENETIC DISORDERS | 39 | ||
| CURRENT RECOMMENDATIONS | 43 | ||
| SUMMARY | 44 | ||
| REFERENCES | 44 | ||
| Chapter 5. Carrier Screening for Cystic Fibrosis | 47 | ||
| DISEASE MANIFESTATIONS | 47 | ||
| MOLECULAR GENETICS AND PATHOPHYSIOLOGY | 48 | ||
| TYPES OF CFTR MUTATIONS: ‘‘SEVERE’’ VERSUS ‘‘MILD’’ ALLELES | 49 | ||
| EPIDEMIOLOGY | 50 | ||
| CLINICAL ASPECTS OF CARRIER TESTING | 52 | ||
| EXPANDED MUTATION SCREENING/FULL GENE SEQUENCING | 54 | ||
| HISTORY OF PRENATAL CARRIER TESTING FOR CF | 55 | ||
| MALE INFERTILITY AND CFTR MUTATIONS | 56 | ||
| INVASIVE PRENATAL TESTING FOR AT-RISK PREGNANCIES | 56 | ||
| PATIENT ACCEPTANCE/UPTAKE OF CARRIER TESTING | 56 | ||
| IMPACT OF CARRIER TESTING ON BIRTH INCIDENCE OF CF | 57 | ||
| SUMMARY | 58 | ||
| REFERENCES | 58 | ||
| Chapter 6. Prenatal Carrier Testing for Fragile X: Counseling Issues and Challenges | 61 | ||
| FRAGILE X–ASSOCIATED DISORDERS | 61 | ||
| FRAGILE X GENETICS | 62 | ||
| EXPANSION OF THE FMR1 TRIPLET REPEAT | 62 | ||
| RNA-MEDIATED PATHOGENESIS OF FRAGILE X–ASSOCIATED DISORDERS | 63 | ||
| FRAGILE X CARRIER SCREENING | 64 | ||
| MOLECULAR TESTING: SCREENING VERSUS DIAGNOSTIC ASSAYS | 65 | ||
| COUNSELING ISSUES AND CHALLENGES | 65 | ||
| FUTURE CONSIDERATIONS | 68 | ||
| SUMMARY | 68 | ||
| REFERENCES | 68 | ||
| Chapter 7. Applications of Array Comparative Genomic Hybridization in Obstetrics | 71 | ||
| A BRIEF HISTORY OF CYTOGENETICS | 71 | ||
| PRINCIPLES OF ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION | 73 | ||
| THE BASIS OF SINGLE NUCLEOTIDE POLYMORPHISM ARRAYS | 75 | ||
| USE OF ACGH FOR DISCOVERY AND DELINEATION OF GENOMIC DISORDERS | 75 | ||
| CLINICAL DIAGNOSTIC USE AND GENERAL BENEFITS OF ACGH | 77 | ||
| GENERAL LIMITATIONS OF ACGH | 77 | ||
| THE PRENATAL EXPERIENCE: SUCCESSES AND LIMITATIONS | 78 | ||
| THE ROLE OF ACGH IN THE CYTOGENETIC ANALYSIS OF PREGNANCY LOSS | 80 | ||
| GENETIC COUNSELING | 81 | ||
| SUMMARY | 82 | ||
| KEY POINTS | 82 | ||
| REFERENCES | 83 | ||
| Chapter 8. Screening, Testing, or Personalized Medicine: Where do Inherited Thrombophilias Fit Best? | 87 | ||
| THE SCREENING PARADIGM | 87 | ||
| GENETIC PRINCIPLES | 89 | ||
| THROMBOPHILIA BIOLOGY | 91 | ||
| PHENOTYPES AND CASE-CONTROL STUDIES | 96 | ||
| PREGNANCY, THROMBOPHILIA, AND COHORT STUDIES | 96 | ||
| FAMILY HISTORY AS A HELPFUL TOOL | 97 | ||
| PERSONALIZED MEDICINE | 100 | ||
| THE POSITION OF PROFESSIONAL ORGANIZATIONS | 101 | ||
| PUBLIC HEALTH SCREENING CRITERIA AND INHERITED THROMBOPHILIA | 102 | ||
| SUMMARY | 102 | ||
| ACKNOWLEDGMENTS | 103 | ||
| REFERENCES | 103 | ||
| Chapter 9. Hereditary Breast and Ovarian Cancer (HBOC): Clinical Features and Counseling for BRCA1 and BRCA2, Lynch Syndrome, Cowden Syndrome, and Li-Fraumeni Syndrome | 109 | ||
| THE GENES AND BIOLOGY | 110 | ||
| CLINICAL FEATURES | 113 | ||
| ASSESSING CANCER RISK | 116 | ||
| OTHER HEREDITARY CANCER SYNDROMES INVOLVING BREAST AND GYNECOLOGIC MALIGNANCIES | 121 | ||
| COUNSELING | 123 | ||
| RISK PERCEPTION AND OTHER COUNSELING ISSUES | 128 | ||
| SUMMARY | 129 | ||
| REFERENCES | 130 | ||
| Chapter 10. Erratum | 135 | ||
| Index | 137 |