Centro di genetica ostetrica e ginecologica

Obstetrics and Gynecology Genetics Center

The Obstetrics and Gynecology Genetics Center of the Obstetrics and Gynecology Hospital of Fudan University began formal planning and establishment in December 2020. The center comprises a Clinical Medicine Division, a Clinical Testing Division, and a Translational Medicine Division. The Clinical Medicine Division provides reproductive genetics, prenatal diagnosis, and cancer genetic counseling. The Clinical Testing Division consists of a cytogenetics laboratory and a molecular genetics laboratory. The Translational Medicine Division conducts clinical trials and translational research on innovative molecular diagnostic technologies, forming a platform for genome medicine research and applications spanning the entire life cycle, as well as for the storage and utilization of genomic big data. This meets diverse clinical screening and diagnostic needs for birth defects and provides support for the early screening, diagnosis, treatment, and monitoring of tumors.

Department Features

The department offers an Academician Clinic for Reproductive Genetics and has China’s first 5G-enabled gene cloud diagnosis and treatment platform for birth defects, enabling efficient remote consultations. The genetics laboratory has a comprehensive cytogenetic and molecular genetic diagnostic platform. Projects include peripheral blood chromosome testing, expanded carrier screening before pregnancy, prenatal cytogenetic and gene copy-number variant testing, prenatal diagnosis of single-gene diseases, noninvasive prenatal DNA testing, and genetic testing for hereditary hearing loss and hereditary tumors. In addition, the Translational Medicine Laboratory aims to achieve precision medicine in obstetrics and gynecology and develop new technologies for prevention and control at the source. It has led clinical translational research on a new-generation noninvasive prenatal DNA testing technology, achieving simultaneous detection of aneuploidy, microdeletions/microduplications, and multiple single-gene diseases, and filling an international gap in the noninvasive diagnosis of de novo mutations and recessive genetic diseases.