Obstetrics and Gynecology Genetics Center

Obstetrics and Gynecology Genetics Center

The Obstetrics and Gynecology Genetics Center of the Obstetrics and Gynecology Hospital of Fudan University was formally established in December 2020. The center has a Clinical Medicine Division, a Clinical Testing Division, and a Translational Medicine Division. The Clinical Medicine Division provides reproductive genetics, prenatal diagnosis, and tumor genetic counseling; the Clinical Testing Division comprises a Cytogenetics Laboratory and a Molecular Genetics Laboratory; and the Translational Medicine Division conducts clinical trials and translational research on innovative molecular diagnostic technologies, forming a platform for genomic medicine research and application across the full life cycle, as well as for the storage and utilization of genetic big data. This meets diverse clinical screening and diagnostic needs for birth defects and provides support for the early screening, diagnosis and treatment, and monitoring of tumors.

Department Features

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