Description
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.
Chapter
OBSTETRICIAN GYNECOLOGISTS AS PRIMARY GENETIC COUNSELORS
REFERRAL TO GENETIC SERVICES
GENETIC COUNSELING IN OBSTETRICS AND GYNECOLOGY
FUTURE POTENTIAL WITHIN PERSONALIZED MEDICINE
SUMMARY: THE OBSTETRIC GENETIC CONNECTION
Chapter 2. Newborn Screening for Treatable Genetic Conditions: Past, Present and Future
THE ROLE OF THE OBSTETRICIAN/GYNECOLOGIST
ETHICAL, SOCIAL AND FINANCIAL ISSUES
Chapter 3. Spinal Muscular Atrophy: Newborn and Carrier Screening
Chapter 4. Ashkenazi Jewish Screening in the Twenty-first Century
HISTORY OF JEWISH POPULATIONS AND GENETIC EFFECTS
HISTORY OF JEWISH GENETIC SCREENING AND TESTING
THE JEWISH GENETIC DISORDERS
Chapter 5. Carrier Screening for Cystic Fibrosis
MOLECULAR GENETICS AND PATHOPHYSIOLOGY
TYPES OF CFTR MUTATIONS: ‘‘SEVERE’’ VERSUS ‘‘MILD’’ ALLELES
CLINICAL ASPECTS OF CARRIER TESTING
EXPANDED MUTATION SCREENING/FULL GENE SEQUENCING
HISTORY OF PRENATAL CARRIER TESTING FOR CF
MALE INFERTILITY AND CFTR MUTATIONS
INVASIVE PRENATAL TESTING FOR AT-RISK PREGNANCIES
PATIENT ACCEPTANCE/UPTAKE OF CARRIER TESTING
IMPACT OF CARRIER TESTING ON BIRTH INCIDENCE OF CF
Chapter 6. Prenatal Carrier Testing for Fragile X: Counseling Issues and Challenges
FRAGILE X–ASSOCIATED DISORDERS
EXPANSION OF THE FMR1 TRIPLET REPEAT
RNA-MEDIATED PATHOGENESIS OF FRAGILE X–ASSOCIATED DISORDERS
FRAGILE X CARRIER SCREENING
MOLECULAR TESTING: SCREENING VERSUS DIAGNOSTIC ASSAYS
COUNSELING ISSUES AND CHALLENGES
Chapter 7. Applications of Array Comparative Genomic Hybridization in Obstetrics
A BRIEF HISTORY OF CYTOGENETICS
PRINCIPLES OF ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION
THE BASIS OF SINGLE NUCLEOTIDE POLYMORPHISM ARRAYS
USE OF ACGH FOR DISCOVERY AND DELINEATION OF GENOMIC DISORDERS
CLINICAL DIAGNOSTIC USE AND GENERAL BENEFITS OF ACGH
GENERAL LIMITATIONS OF ACGH
THE PRENATAL EXPERIENCE: SUCCESSES AND LIMITATIONS
THE ROLE OF ACGH IN THE CYTOGENETIC ANALYSIS OF PREGNANCY LOSS
Chapter 8. Screening, Testing, or Personalized Medicine: Where do Inherited Thrombophilias Fit Best?
PHENOTYPES AND CASE-CONTROL STUDIES
PREGNANCY, THROMBOPHILIA, AND COHORT STUDIES
FAMILY HISTORY AS A HELPFUL TOOL
THE POSITION OF PROFESSIONAL ORGANIZATIONS
PUBLIC HEALTH SCREENING CRITERIA AND INHERITED THROMBOPHILIA
Chapter 9. Hereditary Breast and Ovarian Cancer (HBOC): Clinical Features and Counseling for BRCA1 and BRCA2, Lynch Syndrome, Cowden Syndrome, and Li-Fraumeni Syndrome
OTHER HEREDITARY CANCER SYNDROMES INVOLVING BREAST AND GYNECOLOGIC MALIGNANCIES
RISK PERCEPTION AND OTHER COUNSELING ISSUES
Genetic Screening and Counseling, An Issue of Obstetrics and Gynecology Clinics
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