Prenatal Diagnosis Center and Fetal Medicine Department

Center for Prenatal Diagnosis and Department of Fetal Medicine

The Center for Prenatal Diagnosis and Department of Fetal Medicine of Shanghai First Maternity and Infant Health Hospital is a research-oriented and innovative team with a profound foundation, advanced technologies, and a leading role in disciplinary development. Through years of development, discipline building, and tiered talent development, it has become a first-class fetal medicine center in China aligned with international standards, with mature clinical diagnostic and treatment technologies and strong research capabilities.

The department currently has 14 full-time fetal-medicine subspecialty clinicians, 4 fetal-medicine subspecialty ultrasonographers, 4 specialist nurses, 15 laboratory technicians, and 2 research and administrative staff; 3 hold senior professional titles, 4 associate-senior titles, 10 doctorates, 14 master’s degrees, 2 doctoral supervisors, and 1 master’s supervisor.

Center for Prenatal Diagnosis

Established in 1998, the Center for Prenatal Diagnosis of Shanghai First Maternity and Infant Health Hospital was among the first nationally and the first in Shanghai to be approved and designated by the government as a municipal prenatal-diagnosis center. Its predecessor was the Cytogenetics Laboratory, established in 1978 under the guidance of Professor Xue Jinglun, a renowned geneticist at Fudan University, and one of the earliest laboratories in China to conduct cytogenetic analysis.

After its establishment, the center was the first in Shanghai to introduce systematic ultrasound screening for major fetal structural abnormalities in the second trimester, second-trimester Down syndrome screening, first-trimester NT screening, TORCH screening, and various prenatal-diagnosis technologies. Through the Shanghai Women’s Health Institute network, it trained, quality-controlled, and guided prenatal diagnosis throughout the city and provided consultation opinions on difficult cases. In 2000, with strong support from the Maternal and Child Health Division of the then Shanghai Municipal Health Bureau and hospital presidents and center directors Chen Rujun, Shao Jingyu, Wang Defen, and Duan Tao, the center invited Professors Wang Shixiong, Qiu Weiqin, and Ren Zhaorui, leading figures in Shanghai clinical genetics, to innovatively establish and institutionalize a multidisciplinary obstetrics-ultrasound-genetics consultation clinic for prenatal fetal genetic diseases. In 2004, Professors Sun Luming and Ling Meili, addressing prenatal counseling for fetal structural abnormalities, pioneered collaboration with Children’s Hospital of Fudan University to establish an obstetrics-ultrasound-pediatric surgery multidisciplinary consultation clinic and a multidisciplinary consultation system for fetal birth-defect management, laying the basic prototype of today’s fetal-disease multidisciplinary team (MDT) consultation.

In 2014, the center became one of the first national clinical pilot institutions for high-throughput gene-sequencing prenatal screening and diagnosis and standardized non-invasive DNA prenatal screening. To date, it has completed nearly 140,000 large-sample non-invasive DNA prenatal tests. In 2015, it integrated Shanghai’s advantageous resources to establish a rare-disease research and prenatal-diagnosis technology platform and, based on next-generation sequencing, conducted preconception carrier screening and prenatal diagnosis of various genetic diseases.

In 2020, under the Three-Year Action Plan for Promoting Clinical Skills and Clinical Innovation in Municipal Hospitals, the center, as the prenatal-diagnosis collaborating institution, received funding for the project “Construction and Application of a Cohort Database and Sharing Platform for Rare Diseases in Children.” Under Professors Duan Tao and Sun Luming, it has become one of the few centers in China able to independently analyze and interpret prenatal chromosomal-microarray and whole-exome-sequencing data. Since project implementation, it has completed chromosomal-microarray testing for 29,665 fetuses with ultrasound-indicated structural or developmental abnormalities and prenatal family diagnosis for 4,230 cases of monogenic genetic disease, covering more than 280 monogenic diseases. Since 2014, routine laboratory programs—traditional karyotyping, Down syndrome serologic screening, non-invasive screening, and chromosomal structural-variation testing by microarray—have participated in the interlaboratory quality assessment organized by the National Center for Clinical Laboratories of the National Health Commission and passed for eight consecutive years with full marks and satisfactory results. In 2021, it passed the national interlaboratory quality assessment for whole-exome sequencing in clinical and research laboratories. Over years of work, the center has trained a highly skilled preconception and prenatal genetic-counseling team; established birth-defect prevention and control, preconception/prenatal genetic-counseling, and complex genetic-disease consultation MDT clinics; created a full-process birth-defect prevention and control system; and serves the public. It is an authorized training institution for genetic counselors of the Genetic Counseling Branch of the Chinese Society of Genetics and is responsible for training prenatal genetic counselors.

Department of Fetal Medicine

Shanghai First Maternity and Infant Health Hospital was the first medical institution in China to propose and implement a fetal-medicine subspecialty development system and to standardize fetal-medicine diagnostic and treatment services. In November 2009, following the new concept that “the fetus is also a patient,” Professor Sun Luming, who had received three years of formal clinical training in maternal-fetal medicine abroad, led the establishment, on the basis of the Center for Prenatal Diagnosis, of China’s first “Fetal Medicine Clinic” dedicated to treating fetuses.

In February 2010, Professor Duan Tao first explicitly proposed dividing obstetrics into three subspecialties in the Ministry of Health standards for key obstetric clinical specialties. In May 2010, Professor Sun Luming led the team in formally establishing China’s first Department of Fetal Medicine, disseminating the new concept of fetal medicine, emphasizing “See patients, not just disease,” establishing a Prenatal Diagnosis Ethics Committee, and opening a fetal-medicine psychology clinic, thereby truly treating the fetus as a person.

Disease diagnosis and treatment in the department focuses on fetal-medicine conditions and systematically applies advanced imaging, molecular genetics, and intrauterine intervention therapies. It has innovatively built a platform for precise intrauterine diagnosis and treatment, providing affected fetuses with one-stop clinical-imaging-laboratory, preconception-to-prenatal-screening, prenatal-diagnosis, intrauterine-treatment, intrapartum, neonatal, and child-health care “under one roof” throughout the life cycle.

With multidisciplinary integration, the department collaborates with leading specialties and expert teams at Fudan University Children’s Hospital, Shanghai Children’s Medical Center affiliated with Shanghai Jiao Tong University, Xinhua Hospital, Ninth People’s Hospital, Eye, Ear, Nose and Throat Hospital, Huashan Hospital, Ruijin Hospital, and other renowned tertiary Grade-A hospitals. For fetal birth defects and complex genetic diseases, it provides precise counseling and develops comprehensive perinatal management plans. Its MDT model is led by fetal-medicine experts and oriented toward fetal-medicine conditions; it practices “Destination” medicine and provides patients with the highest-quality care. Based on an emerging “5G + artificial intelligence” platform, it has also pioneered extending fetal-disease counseling and intrauterine-treatment services to the “cloud,” reducing patients’ travel.

The fetal-medicine team has continuously explored new technologies, putting standardization and systems first. On the basis of precise prenatal diagnosis, it was among the first in China to standardize multiple intrauterine interventions for fetal conditions, including fetoscopic laser photocoagulation of placental anastomoses, various vessel-coagulation fetal reduction procedures, potassium-chloride fetal reduction, transhepatic-vein intrauterine transfusion, fetal thoracic-amniotic shunt drainage, fetal arrhythmia cardioversion, and interventional procedures for structural congenital heart disease. These are now mature clinical applications. The team has established an intrauterine-treatment group for critically ill fetuses and a green referral channel for critical fetal emergencies, providing on-call, standardized, timely, and efficient care around the clock, with outcomes reaching internationally advanced levels.

The team led the drafting of several national fetal-medicine clinical guidelines and expert consensuses, including those on twin pregnancy, non-immune fetal hydrops, and fetal growth restriction, and participated in international and national guidelines in prenatal diagnosis and fetal medicine. As the chief editorial institution for the 10th five-year edition and a contributing institution for the 4th eight-year edition of Obstetrics and Gynecology published by People’s Medical Publishing House, it pioneered inclusion of fetal-medicine concepts and standardized diagnosis and treatment of fetal diseases in textbooks. It has edited and translated numerous classic fetal-medicine monographs. The department is the lead institution for major Ministry of Science and Technology projects on “Research and Development of a New Plan for Intrauterine Diagnosis and Treatment of Major Fetal Diseases” and “Full-Chain Research to Establish China’s Fetal Growth Curves and an Intervention System for Fetal Growth Restriction”; it leads development of Shanghai prenatal-diagnosis standards and chairs the Fetal Medicine Group of the Perinatal Medicine Branch of the Chinese Medical Association.

The center and department are not only clinical centers for fetal diseases but also train fetal-medicine subspecialists. Since its founding, the department has established extensive cooperation and academic exchange with leading fetal-medicine centers in Canada, France, Belgium, the United States, the United Kingdom, the Netherlands, Hong Kong, China, and elsewhere. In 2008, it founded China’s first professional prenatal-diagnosis journal, Chinese Journal of Prenatal Diagnosis. In 2011, it held China’s first academic conference in fetal medicine, the China Fetal Medicine Conference, which has continued annually and become a benchmark meeting in the field. For many consecutive years, the center has offered international practical courses in basic fetal-medicine theory and skills, held multiple International Fetal Intrauterine Treatment Training Courses, and invited world-leading fetal-medicine experts to provide standardized simulation training. Its prenatal genetic-counseling courses, held in cooperation with the International Society for Prenatal Diagnosis (ISPD), have been well received. The department has an independent training system for visiting physicians, with complete subspecialty rotations and strict completion assessments; it has provided standardized training in fetal-disease diagnosis and treatment to more than 300 visiting physicians from 25 provinces and municipalities and more than 200 hospitals nationwide. Based on Ministry of Science and Technology projects and its training network, the center established China’s first intrauterine-treatment collaboration network and actively promotes multicenter fetal-medicine clinical research.

After more than 10 years of development, the Center for Prenatal Diagnosis and Department of Fetal Medicine of First Maternity and Infant have become a mature fetal-medicine center that is genuinely aligned with international standards and develops in a standardized manner, leading the development of fetal medicine in China.

November 2009: China’s first formally established “one-stop fetal medicine clinic.”