Prenatal Diagnosis of Genetic Diseases Using Python

Learn how to apply Python programming to prenatal genetic disease diagnosis in this 27-minute conference talk from EuroPython 2025. Explore the critical role of preimplantation and prenatal diagnostic methods in managing pregnancies affected by genetic diseases, which impact 4% of newborns. Discover how Python can automate and streamline the complex analysis process of genetic sequencing data, using epidermolysis bullosa (butterfly skin disease) as a practical example to demonstrate mutation detection in embryonic or fetal DNA samples. Examine the essential regulatory frameworks and quality control measures required for clinical genetic diagnostic tools, while addressing the broader health applications and ethical responsibilities associated with these technologies to prevent misuse such as eugenic practices. Gain insights into how programming solutions can bridge the gap between advanced genetic sequencing technologies and practical clinical applications in reproductive medicine.