Reproductive Genetics Department

The Department of Reproductive Genetics of Shanghai First Maternity and Infant Health Hospital (Obstetrics and Gynecology Hospital Affiliated to Tongji University) is one of the core subspecialties of the Reproductive Medicine Center. The department is distinguished by its focus on “preventing genetic diseases” and is committed to translating cutting-edge genomic medicine technologies into clinical strategies for preventing genetic diseases at their source, providing families preparing for pregnancy, families experiencing infertility, families at high risk of having children with genetic diseases, and individuals at high risk of developing genetic diseases with specialized reproductive genetic counseling and genetic disease prevention and control services covering the entire life cycle, and actively putting into practice the Healthy China strategy of “prevention first”.

The Department of Reproductive Genetics continuously explores and puts into practice new approaches to genetic disease prevention. It offers a reproductive genetics clinic, a specialist clinic, and a reproductive genetics multidisciplinary (MDT) clinic; carries out internationally leading genetic diagnostic and screening technologies, including whole-exome sequencing, whole-genome sequencing, comprehensive carrier screening, hereditary cancer predisposition gene testing, genetic testing for infertility, and preimplantation genetic testing (PGT); and, together with the genetics and rare-disease science-popularization public-interest platform “Wandou Sir”, jointly launched the “Good Pregnancy Without Genetic Disease” reproductive care initiative for families affected by genetic diseases. The department has established standardized clinical genetic testing and PGT laboratories and performs nearly 2000 PGT cycles annually. By the end of 2023, the world’s first IVF baby in whom a rare KIT gene-related pigmentation disorder and gastrointestinal stromal tumor had been successfully prevented through third-generation IVF technology was born.

The reproductive genetics expert team is led by senior experts Teng Xiaoming, Zhang Junyu, and Liang Shanshan, and comprises outstanding medical and technical professionals including Qin Ningxin, Wang Lu, Li Jinli, Zhou Zhou, and Tian Mengmeng. The team has built up a strong foundation in clinical practice and research in reproductive genetics, and the department serves as the chairing institution for the Reproductive Genetics Branch of the Genetics Society of China and the Reproductive Genetics and Embryology Branch of the Chinese Association of Eugenics Science. The team actively promotes the standardization of clinical practice in reproductive genetics, was the first to introduce the internationally authoritative ACMG/AMP guidelines for sequence variant classification into clinical practice, and led/participated in the development of 4 clinical/laboratory guidelines and 2 expert consensus statements, including «Expert Consensus on Key Issues in Comprehensive Carrier Screening (2024 Edition) », «Technical Specification for Intracytoplasmic Sperm Injection (ICSI) », and «Clinical Interpretation of Sequence Variants».