Main Topics

Introduction to Genetics
Basic principles for the non-geneticist
Next generation sequencing:  strategies for genetic testing
Technical aspects of reproductive genetics (Methods of PGS, PGD, Prenatal)
Carrier screening of recessive disease: Universal screening
PGD and PGS: State-of-the-Art
Development and current best practice for translocations
Single gene diagnosis and aneuploidy detection using karyomapping
Clinically evaluating NGS and its extra information
PGS for advanced maternal age
The clinical value of Preimplantation Genetic Screening (PGS)
Management of PGS treatment embryo: timing, technology, success and cost effectiveness
Aneuploidy in embryos: variability between centers, between patients and between cycles of the same patients
Debate: Is it now unethical not to screen out an aneuploidy embryo in IVF?
Prediction of Gamete quality and viability
Cumulus cell genomics and its predictive value
Blastocoel analysis for PGS and the potential clinical value of mitochondrial screening assays
Ultra-sensitive mass spectrometry to look at the proteomic content of the blastocoel fluid with a view to embryo viability assessment
Update on polar body testing for detection of female meiotic errors
Non-Invasive Prenatal Testing (NIPT): Current state of the ART
Introduction of NIPT in clinical practice
Debate: How should NIPT be used:
- As primary screening to all patients
- As contingent screening in very high and intermediate risk patients
Non-Invasive Prenatal Testing (NIPT): Future Perspectives
Debate: NIPT for microdeletion syndromes
NIPT for Single-Gene Disorders
Future development in NIPT
Chromosomal microarrays (CMA) in Prenatal Diagnosis
Chromosomal microarrays - how does it work?
Can CMA replace standard karyotyping?
Counseling for Variants of Unclear Clinical Significance
Debate: Would it be ethical not to propose women to undergo invasive testing with CMA?
Genetics in infertility
Characterization of the molecular etiology of severe cases of infertility - a must to bring personalized medicine to the field of reproduction
Carrier screening of genes relevant in infertility, including mutations associated with miscarriage
Gene therapy in reproductive medicine
Social and legal aspects