Medical Genetics

  1. Clinical Genetics Practice
    1. The Genetic Consultation
      1. Pre-test Counseling
        1. Risk Assessment
          1. Family History Analysis
            1. Prior Probability Calculation
              1. Risk Factor Identification
            2. Post-test Counseling
              1. Result Disclosure
                1. Positive Results
                  1. Negative Results
                    1. Uncertain Results
                    2. Psychosocial Support
                      1. Emotional Impact
                        1. Coping Strategies
                          1. Support Resources
                        2. Obtaining Family History
                          1. Three-Generation Pedigree
                            1. Systematic Information Gathering
                              1. Medical Records Review
                                1. Family Communication
                                2. Identifying Patterns of Inheritance
                                  1. Pattern Recognition
                                    1. Risk Assessment
                                      1. Testing Recommendations
                                    2. Physical Examination and Dysmorphology
                                      1. Recognizing Dysmorphic Features
                                        1. Facial Dysmorphism
                                          1. Limb Abnormalities
                                            1. Organ Malformations
                                            2. Growth Parameters
                                              1. Height and Weight
                                                1. Head Circumference
                                                  1. Growth Charts
                                                  2. Minor Anomalies
                                                    1. Significance Assessment
                                                      1. Syndrome Recognition
                                                        1. Developmental Markers
                                                    2. Genetic Testing in Clinical Practice
                                                      1. Diagnostic Testing
                                                        1. Indications and Limitations
                                                          1. Clinical Presentation
                                                            1. Test Selection
                                                              1. Result Interpretation
                                                            2. Predictive and Presymptomatic Testing
                                                              1. Indications and Counseling
                                                                1. At-Risk Individuals
                                                                  1. Psychological Preparation
                                                                    1. Medical Management
                                                                  2. Carrier Screening
                                                                    1. Population-Based Screening
                                                                      1. Ethnic-Specific Screening
                                                                        1. Pan-ethnic Screening
                                                                          1. Screening Programs
                                                                          2. Targeted Screening
                                                                            1. Family History Based
                                                                              1. High-Risk Populations
                                                                                1. Reproductive Planning
                                                                              2. Newborn Screening
                                                                                1. Principles and Disorders Screened
                                                                                  1. Early Detection
                                                                                    1. Treatable Conditions
                                                                                      1. Screening Methods
                                                                                      2. Follow-up and Confirmatory Testing
                                                                                        1. Positive Screen Management
                                                                                          1. Diagnostic Confirmation
                                                                                            1. Treatment Initiation
                                                                                          2. Pharmacogenetic Testing
                                                                                            1. Indications and Interpretation
                                                                                              1. Drug Selection
                                                                                                1. Dosing Optimization
                                                                                                  1. Adverse Reaction Prevention
                                                                                              2. Prenatal Genetics
                                                                                                1. Indications for Prenatal Diagnosis
                                                                                                  1. Advanced Maternal Age
                                                                                                    1. Counseling Considerations
                                                                                                    2. Abnormal Ultrasound Findings
                                                                                                      1. Structural Abnormalities
                                                                                                        1. Soft Markers
                                                                                                          1. Follow-up Testing
                                                                                                          2. Family History of Genetic Disease
                                                                                                            1. Recurrence Risk
                                                                                                              1. Specific Gene Testing
                                                                                                                1. Carrier Status
                                                                                                              2. Prenatal Screening
                                                                                                                1. Maternal Serum Screening
                                                                                                                  1. First Trimester Screening
                                                                                                                    1. PAPP-A and Free β-hCG
                                                                                                                      1. Nuchal Translucency
                                                                                                                        1. Risk Calculation
                                                                                                                        2. Second Trimester Screening
                                                                                                                          1. Quad Screen
                                                                                                                            1. AFP Levels
                                                                                                                              1. Neural Tube Defects
                                                                                                                            2. Non-Invasive Prenatal Testing
                                                                                                                              1. Cell-Free DNA Analysis
                                                                                                                                1. Fetal Fraction
                                                                                                                                  1. Screening Limitations
                                                                                                                                    1. Confirmatory Testing Need
                                                                                                                                  2. Prenatal Diagnostic Procedures
                                                                                                                                    1. Amniocentesis
                                                                                                                                      1. Timing and Risks
                                                                                                                                        1. Second Trimester Timing
                                                                                                                                          1. Miscarriage Risk
                                                                                                                                            1. Procedure Complications
                                                                                                                                          2. Chorionic Villus Sampling
                                                                                                                                            1. Timing and Risks
                                                                                                                                              1. First Trimester Timing
                                                                                                                                                1. Maternal Cell Contamination
                                                                                                                                                  1. Confined Placental Mosaicism
                                                                                                                                                2. Fetal Blood Sampling
                                                                                                                                                  1. Cordocentesis
                                                                                                                                                    1. Late Pregnancy Diagnosis
                                                                                                                                                      1. High-Risk Procedure
                                                                                                                                                    2. Preimplantation Genetic Testing
                                                                                                                                                      1. Indications and Methods
                                                                                                                                                        1. Single Gene Disorders
                                                                                                                                                          1. Chromosomal Abnormalities
                                                                                                                                                            1. HLA Matching
                                                                                                                                                            2. Ethical Considerations
                                                                                                                                                              1. Embryo Selection
                                                                                                                                                                1. Genetic Enhancement
                                                                                                                                                                  1. Access Issues

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                                                                                                                                                            4. Molecular Genetics and Diagnostics

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                                                                                                                                                            6. Specific Areas in Medical Genetics