Ovarian Hereditary Diseases: Progress in Prevention and Treatment and Research on Prenatal Diagnosis

Abstract

Ovarian hereditary diseases, due to their complex genetic backgrounds and diverse clinical manifestations, have a significant impact on patients' health and quality of life. In recent years, with the rapid advancement of genomics and prenatal diagnostic technologies, significant progress has been made in the prevention and treatment of ovarian hereditary diseases. This paper reviews the latest research on ovarian hereditary diseases, including the classification of major diseases, genetic mechanisms, clinical manifestations, and current prevention and treatment strategies. Particularly in the field of prenatal diagnosis, non-invasive prenatal testing (NIPT), chorionic villus sampling (CVS), and amniocentesis have provided new avenues for early screening and intervention. However, existing technologies still face challenges such as high false-positive/false-negative rates and high costs. Future advancements in genome editing technologies and more precise screening methods are expected to further improve diagnostic and therapeutic outcomes. This paper summarizes current research findings and explores future directions, providing valuable references for the clinical management and research of ovarian hereditary diseases.