The ESHG 2017 conference celebrated its 50th anniversary, highlighting advancements in human genetics. Key topics included reproductive genetics, prenatal diagnostics, and the impact of genetic variations on fertility and pregnancy outcomes. Studies presented explored the role of CNVs in recurrent pregnancy loss, novel genetic screening methods for male infertility, and the identification of new disease genes for conditions like primary ovarian insufficiency. Non-invasive prenatal testing (NIPT) for detecting chromosomal abnormalities and the application of expanded carrier screening for recessive disorders were also discussed, emphasizing the importance of early intervention and genetic counseling.