Genetic Counseling

  1. Clinical Specialties in Genetic Counseling
    1. Prenatal Genetic Counseling
      1. Indications for Counseling
        1. Advanced Maternal Age
          1. Advanced Paternal Age
            1. Abnormal Screening Results
              1. Ultrasound Abnormalities
                1. Family History
                  1. Consanguinity
                    1. Teratogen Exposure
                      1. Previous Affected Pregnancy
                      2. Prenatal Screening
                        1. First Trimester Screening
                          1. Nuchal Translucency
                            1. Biochemical Markers
                              1. Combined Screening
                              2. Second Trimester Screening
                                1. Quad Screen
                                  1. AFP Screening
                                  2. Cell-Free DNA Screening
                                    1. Technology Overview
                                      1. Conditions Detected
                                        1. Limitations
                                      2. Diagnostic Testing
                                        1. Chorionic Villus Sampling
                                          1. Timing
                                            1. Procedure Types
                                              1. Risks and Benefits
                                              2. Amniocentesis
                                                1. Timing
                                                  1. Procedure
                                                    1. Risks and Benefits
                                                    2. Fetal Blood Sampling
                                                      1. Indications
                                                        1. Procedure
                                                      2. Preimplantation Genetic Testing
                                                        1. PGT for Monogenic Disorders
                                                          1. PGT for Chromosomal Abnormalities
                                                            1. PGT for HLA Matching
                                                              1. Ethical Considerations
                                                              2. Pregnancy Management
                                                                1. Abnormal Results
                                                                  1. Termination Counseling
                                                                    1. Continuing Pregnancy Support
                                                                      1. Delivery Planning
                                                                    2. Pediatric Genetic Counseling
                                                                      1. Common Indications
                                                                        1. Congenital Anomalies
                                                                          1. Developmental Delay
                                                                            1. Intellectual Disability
                                                                              1. Autism Spectrum Disorders
                                                                                1. Growth Abnormalities
                                                                                  1. Metabolic Disorders
                                                                                    1. Seizure Disorders
                                                                                    2. Newborn Screening Follow-Up
                                                                                      1. Screening Programs
                                                                                        1. Positive Results
                                                                                          1. Confirmatory Testing
                                                                                            1. Treatment Initiation
                                                                                            2. Dysmorphology Assessment
                                                                                              1. Physical Examination
                                                                                                1. Syndromic Features
                                                                                                  1. Pattern Recognition
                                                                                                    1. Diagnostic Approach
                                                                                                    2. Genetic Testing Approaches
                                                                                                      1. Chromosomal Analysis
                                                                                                        1. Single Gene Testing
                                                                                                          1. Panel Testing
                                                                                                            1. Exome Sequencing
                                                                                                            2. Family Dynamics
                                                                                                              1. Parental Adjustment
                                                                                                                1. Sibling Impact
                                                                                                                  1. Extended Family
                                                                                                                    1. School and Community
                                                                                                                  2. Cancer Genetic Counseling
                                                                                                                    1. Hereditary Cancer Syndromes
                                                                                                                      1. Hereditary Breast and Ovarian Cancer
                                                                                                                        1. BRCA1 and BRCA2
                                                                                                                          1. Other Genes
                                                                                                                            1. Management Guidelines
                                                                                                                            2. Lynch Syndrome
                                                                                                                              1. Mismatch Repair Genes
                                                                                                                                1. Screening Protocols
                                                                                                                                  1. Preventive Measures
                                                                                                                                  2. Li-Fraumeni Syndrome
                                                                                                                                    1. TP53 Gene
                                                                                                                                      1. Surveillance Recommendations
                                                                                                                                      2. Familial Adenomatous Polyposis
                                                                                                                                        1. APC Gene
                                                                                                                                          1. Screening and Management
                                                                                                                                          2. Other Hereditary Syndromes
                                                                                                                                            1. Cowden Syndrome
                                                                                                                                              1. Peutz-Jeghers Syndrome
                                                                                                                                                1. Von Hippel-Lindau
                                                                                                                                              2. Risk Assessment
                                                                                                                                                1. Family History Analysis
                                                                                                                                                  1. Risk Prediction Models
                                                                                                                                                    1. Testing Criteria
                                                                                                                                                    2. Genetic Testing
                                                                                                                                                      1. Single Gene Testing
                                                                                                                                                        1. Multi-Gene Panels
                                                                                                                                                          1. Tumor Testing
                                                                                                                                                            1. Germline vs. Somatic
                                                                                                                                                            2. High-Risk Management
                                                                                                                                                              1. Enhanced Surveillance
                                                                                                                                                                1. Imaging Protocols
                                                                                                                                                                  1. Screening Intervals
                                                                                                                                                                  2. Chemoprevention
                                                                                                                                                                    1. Medication Options
                                                                                                                                                                      1. Risk-Benefit Analysis
                                                                                                                                                                      2. Prophylactic Surgery
                                                                                                                                                                        1. Risk-Reducing Mastectomy
                                                                                                                                                                          1. Risk-Reducing Oophorectomy
                                                                                                                                                                            1. Colectomy
                                                                                                                                                                          2. Psychosocial Considerations
                                                                                                                                                                            1. Cancer Anxiety
                                                                                                                                                                              1. Survivor Guilt
                                                                                                                                                                                1. Family Communication
                                                                                                                                                                                  1. Quality of Life
                                                                                                                                                                                2. Adult and Cardiovascular Genetic Counseling
                                                                                                                                                                                  1. Neurogenetic Conditions
                                                                                                                                                                                    1. Huntington Disease
                                                                                                                                                                                      1. Predictive Testing
                                                                                                                                                                                        1. Reproductive Options
                                                                                                                                                                                        2. Muscular Dystrophies
                                                                                                                                                                                          1. Duchenne/Becker
                                                                                                                                                                                            1. Myotonic Dystrophy
                                                                                                                                                                                            2. Hereditary Ataxias
                                                                                                                                                                                              1. Spinocerebellar Ataxias
                                                                                                                                                                                                1. Friedreich Ataxia
                                                                                                                                                                                                2. Peripheral Neuropathies
                                                                                                                                                                                                  1. Charcot-Marie-Tooth Disease
                                                                                                                                                                                                    1. Hereditary Neuropathies
                                                                                                                                                                                                  2. Cardiovascular Genetics
                                                                                                                                                                                                    1. Cardiomyopathies
                                                                                                                                                                                                      1. Hypertrophic Cardiomyopathy
                                                                                                                                                                                                        1. Dilated Cardiomyopathy
                                                                                                                                                                                                          1. Arrhythmogenic Cardiomyopathy
                                                                                                                                                                                                          2. Arrhythmia Syndromes
                                                                                                                                                                                                            1. Long QT Syndrome
                                                                                                                                                                                                              1. Brugada Syndrome
                                                                                                                                                                                                                1. Catecholaminergic Polymorphic Ventricular Tachycardia
                                                                                                                                                                                                                2. Aortopathies
                                                                                                                                                                                                                  1. Marfan Syndrome
                                                                                                                                                                                                                    1. Loeys-Dietz Syndrome
                                                                                                                                                                                                                      1. Bicuspid Aortic Valve
                                                                                                                                                                                                                      2. Familial Hypercholesterolemia
                                                                                                                                                                                                                        1. LDLR Gene
                                                                                                                                                                                                                          1. Management Guidelines
                                                                                                                                                                                                                        2. Connective Tissue Disorders
                                                                                                                                                                                                                          1. Marfan Syndrome
                                                                                                                                                                                                                            1. Diagnostic Criteria
                                                                                                                                                                                                                              1. Management
                                                                                                                                                                                                                              2. Ehlers-Danlos Syndromes
                                                                                                                                                                                                                                1. Classification
                                                                                                                                                                                                                                  1. Management Approaches
                                                                                                                                                                                                                                  2. Osteogenesis Imperfecta
                                                                                                                                                                                                                                    1. Types and Features
                                                                                                                                                                                                                                      1. Treatment Options
                                                                                                                                                                                                                                    2. Late-Onset Conditions
                                                                                                                                                                                                                                      1. Predictive Testing Issues
                                                                                                                                                                                                                                        1. Presymptomatic Management
                                                                                                                                                                                                                                          1. Family Planning
                                                                                                                                                                                                                                        2. Emerging Specialty Areas
                                                                                                                                                                                                                                          1. Reproductive Genetics
                                                                                                                                                                                                                                            1. Infertility Evaluation
                                                                                                                                                                                                                                              1. Recurrent Pregnancy Loss
                                                                                                                                                                                                                                                1. Assisted Reproductive Technology
                                                                                                                                                                                                                                                  1. Gamete and Embryo Testing
                                                                                                                                                                                                                                                  2. Psychiatric Genetics
                                                                                                                                                                                                                                                    1. Heritability of Mental Illness
                                                                                                                                                                                                                                                      1. Genetic Testing Limitations
                                                                                                                                                                                                                                                        1. Counseling Approaches
                                                                                                                                                                                                                                                          1. Ethical Considerations
                                                                                                                                                                                                                                                          2. Pharmacogenomics
                                                                                                                                                                                                                                                            1. Drug Metabolism
                                                                                                                                                                                                                                                              1. Adverse Drug Reactions
                                                                                                                                                                                                                                                                1. Dosing Guidelines
                                                                                                                                                                                                                                                                  1. Implementation Challenges
                                                                                                                                                                                                                                                                  2. Specialty Organ Systems
                                                                                                                                                                                                                                                                    1. Ophthalmologic Genetics
                                                                                                                                                                                                                                                                      1. Renal Genetics
                                                                                                                                                                                                                                                                        1. Dermatologic Genetics
                                                                                                                                                                                                                                                                          1. Endocrine Genetics
                                                                                                                                                                                                                                                                          2. Laboratory Genetics
                                                                                                                                                                                                                                                                            1. Variant Interpretation
                                                                                                                                                                                                                                                                              1. Test Development
                                                                                                                                                                                                                                                                                1. Quality Assurance
                                                                                                                                                                                                                                                                                  1. Bioinformatics

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                                                                                                                                                                                                                                                                              3. The Genetic Counseling Process

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                                                                                                                                                                                                                                                                              5. Psychosocial Dimensions of Genetic Counseling