Reproductive Genetics Course

Lesson 1 • Mendelian and Non-Mendelian Inheritance

Explains autosomal, X-linked, and complex inheritance patterns. Connects inheritance modes to recurrence risk calculations in families.

Lesson 2 • Epigenetics and Gene Regulation

Covers DNA methylation, histone modification, and imprinting. Explains how epigenetic dysregulation contributes to reproductive and developmental disorders.

Lesson 3 • Cell Division and Chromosomal Basis

Covers mitosis, meiosis, and chromosomal segregation errors. Provides the cellular foundation for understanding inherited reproductive disorders.

Lesson 4 • Types and Consequences of Mutations

Classifies point mutations, insertions, deletions, and structural variants. Links mutation types to pathogenic mechanisms in reproductive conditions.

Lesson 1 • Spermatogenesis and Sperm Genetics

Covers sperm production, maturation, and genetic integrity. Connects spermatogenic defects to male-factor infertility and de novo mutation rates.

Lesson 2 • Chromosomal Abnormalities in Gametes

Analyzes origins of aneuploidies and structural rearrangements in eggs and sperm. Provides the basis for interpreting preimplantation and prenatal test results.

Lesson 3 • Fertilization and Early Embryogenesis

Explains gamete fusion, zygote formation, and early cleavage genetics. Establishes the embryonic context for preimplantation genetic testing.

Lesson 1 • Endocrine Genetics and Ovarian Reserve

Explores genetic regulation of the hypothalamic-pituitary-gonadal axis. Links hormonal gene variants to diminished ovarian reserve and cycle disorders.

Lesson 2 • Chromosomal Causes of Infertility

Covers karyotypic abnormalities associated with gonadal failure and recurrent loss. Links chromosomal findings to reproductive prognosis and management.

Lesson 3 • Single-Gene Disorders Affecting Fertility

Examines monogenic conditions that impair gametogenesis or reproductive anatomy. Connects gene-level defects to clinical infertility phenotypes.

Lesson 4 • Recurrent Pregnancy Loss Genetics

Analyzes chromosomal and thrombophilic genetic factors in recurrent miscarriage. Connects findings to evidence-based evaluation and counseling protocols.

Lesson 1 • Couple-Based Screening Strategies

Compares sequential, concurrent, and couple-based screening approaches. Guides selection of the most efficient strategy for diverse clinical populations.

Lesson 2 • Bayesian Risk Calculation Methods

Teaches prior, conditional, and posterior probability calculations for genetic risk. Applies Bayesian logic to pedigree-based reproductive counseling scenarios.

Lesson 3 • Principles of Carrier Screening

Defines carrier status, residual risk, and screening sensitivity. Establishes the rationale for expanded versus targeted carrier screening programs.

Lesson 4 • Communicating Carrier Results

Develops skills for delivering carrier findings and explaining reproductive options. Addresses emotional responses and decision-making support for at-risk couples.

Lesson 1 • Chromosomal Microarray in Prenatal Diagnosis

Introduces microarray platforms and their advantages over conventional karyotyping. Addresses variants of uncertain significance and counseling challenges.

Lesson 2 • First-Trimester Screening Approaches

Covers nuchal translucency ultrasound and serum analyte screening. Connects combined screening performance to detection rates for common aneuploidies.

Lesson 3 • Invasive Diagnostic Procedures

Details chorionic villus sampling and amniocentesis techniques and genetic applications. Compares procedural risks, timing, and diagnostic yield for each method.

Lesson 4 • Cell-Free DNA Prenatal Screening

Explains cfDNA biology, sequencing methods, and clinical performance metrics. Addresses limitations including fetal fraction, confined placental mosaicism, and false positives.

Lesson 1 • PGT for Structural Rearrangements

Addresses testing strategies for translocation and inversion carriers undergoing IVF. Interprets unbalanced versus balanced embryo results and counseling implications.

Lesson 2 • PGT for Aneuploidies

Covers next-generation sequencing-based aneuploidy screening of trophectoderm biopsies. Addresses mosaicism detection, reporting thresholds, and transfer decision frameworks.

Lesson 3 • IVF Framework for Genetic Testing

Reviews IVF stimulation, retrieval, and embryo culture as the platform for PGT. Establishes how laboratory conditions affect embryo quality and biopsy outcomes.

Lesson 4 • PGT for Monogenic Disorders

Explains mutation-specific and linkage-based strategies for single-gene PGT. Covers allele dropout, amplification failure, and quality control measures.

Lesson 1 • Reproductive Genetic Counseling Framework

Defines the scope, goals, and ethical principles of reproductive genetic counseling. Positions the counselor role within the multidisciplinary reproductive medicine team.

Lesson 2 • Communicating Uncertainty and Risk

Develops skills for explaining probabilistic risk and variants of uncertain significance. Addresses health literacy barriers and numeracy challenges in diverse populations.

Lesson 3 • Psychosocial Assessment and Support

Covers psychological impact of genetic diagnoses on reproductive decision-making. Equips counselors with tools to assess distress and provide appropriate referrals.

Lesson 4 • Pedigree Construction and Analysis

Teaches standardized pedigree notation and three-generation family history collection. Applies pedigree analysis to identify inheritance patterns and at-risk relatives.

Lesson 1 • CRISPR and Genome Editing Concepts

Introduces CRISPR-Cas9 mechanisms and their theoretical reproductive applications. Addresses off-target effects, germline editing ethics, and regulatory landscape.

Lesson 2 • Artificial Intelligence in Reproductive Genomics

Surveys AI and machine learning applications in embryo selection and variant interpretation. Evaluates validation requirements and bias risks before clinical deployment.

Lesson 3 • RNA Sequencing and Transcriptomics

Introduces RNA-seq for detecting splicing variants and gene expression in reproductive tissues. Connects transcriptomic findings to functional validation of uncertain variants.

Lesson 4 • Whole Exome and Genome Sequencing

Covers WES and WGS workflows, variant interpretation, and reproductive applications. Addresses diagnostic yield, incidental findings, and reanalysis strategies.