Prenatal Diagnosis Outpatient Clinic（清远院区）

Founded in 1981, it became a prenatal diagnosis center integrating a genetic counseling clinic and a genetics laboratory in 1994, and was expanded into a Medical Genetics Center in 2013. Through years of development and construction, our center has successively become one of the first batch of training bases for prenatal diagnosis technology and teaching staff of the Ministry of Health, one of the first batch of national standardized training bases for resident physicians in genetic counseling, a training base of the national birth defects prevention and treatment talent training program, a Guangdong Province birth defect prevention and control talent training base, a Guangdong Province special technical guidance center for prenatal diagnosis, a Guangdong Province birth defects prevention and management center, a Guangdong Province birth defects comprehensive intervention center, a Guangdong Province thalassemia diagnosis center, a Guangdong Province prenatal screening and diagnosis engineering technology research center, a Guangdong Province translational medicine innovation platform (genetic diseases), the Ministry of Health quality control center for prenatal screening and diagnosis, the prenatal diagnosis technical guidance center of the Guangdong Province Maternal and Child Health Project, a "genetic counseling training institution" of the Cross-Strait Medical and Health Exchange Association, a key specialty of the "Five Ones" program of Guangdong Province during the "Ninth Five-Year Plan" period, a key specialty of prenatal diagnosis of the Maternal and Child Health Center of the Chinese Center for Disease Control and Prevention, a doctoral degree training site in obstetrics and gynecology of Jinan University, and a master's degree training site in the prenatal diagnosis direction of obstetrics and gynecology of Guangzhou Medical University. At the same time, our center is also the PGS/PGD laboratory for assisted reproductive technology of the National Health and Family Planning Commission, the regional central laboratory for early diagnosis of HIV in infants in the four provinces of South China, the key laboratory of maternal and child metabolism and genetic diseases of the Provincial Health Department, and has established a joint laboratory with the Genetics Center of the Children's Hospital affiliated to Harvard Medical School; in recent years it has put into operation a non-invasive prenatal genetic testing laboratory and a high-throughput sequencing laboratory. The Medical Genetics Center has an excellent professional medical genetics team, currently with 112 members in total, including 1 doctoral supervisor, 3 master's supervisors, 7 with senior professional titles, 21 with associate senior professional titles, 60 with intermediate professional titles, 14 with doctorates and 51 with master's degrees; it has a group of interdisciplinary talents capable of undertaking clinical work, genetic testing and ultrasound examination, and is a young collective of the new era that is enterprising, united and cooperative, courageous in innovation, carries the glorious mission of warriors in white and has a sense of social responsibility. In 2017, our center was honored with the title of "National Youth Civilization Award". The clinic receives about 100,000 patient visits per year and has a genetic counseling clinic, an interventional prenatal diagnosis specialty clinic, a fetal ultrasound abnormality specialty clinic, a twin/multiple pregnancy specialty clinic, a fetal intrauterine treatment clinic, fetal medicine multidisciplinary diagnosis and treatment, a genetic disease specialty clinic, an intrauterine infection clinic, an adverse pregnancy and childbirth history clinic, etc. It has mastered interventional prenatal diagnosis, fetoscopy, selective radiofrequency ablation fetal reduction, KCl selective fetal reduction, intrauterine fetal blood transfusion, fetal body cavity-amniotic cavity shunting, amniotic fluid replacement (amniotic fluid reduction, amniotic fluid infusion) and many other techniques, and to date has performed tens of thousands of various interventional prenatal diagnosis procedures. The laboratory tests about 700,000 specimens per year and is divided into biochemical genetics, cytogenetics and molecular genetics professional laboratories, equipped with various advanced experimental devices, covering nucleic acid testing for the novel coronavirus, non-invasive prenatal genetic screening (NIPT), chromosome microarray analysis (CMA), prenatal WES, high-throughput sequencing (NGS), thalassemia (prenatal) genetic testing, preimplantation genetic diagnosis/screening (PGD/PGS), QF-PCR, chromosome karyotype analysis, Down syndrome serological screening, thalassemia screening, TORCH screening, G6PD screening, flow cytometry testing and more than 70 testing items. On the premise of completing clinical work with guaranteed quality and quantity, the department organizes the strength of the teaching and research office to invest a great deal of effort in scientific research and teaching; in the past 5 years the department has obtained 43 research projects, including 3 national-level, 6 provincial and ministerial-level and 29 bureau-level high-level projects; it has published a total of 283 papers in core journals at home and abroad, including 65 SCI-indexed papers with a total impact factor of 175.91, 5 academic articles in foreign journals with an impact factor >5, and 33 academic articles in Chinese Medical Association series journals; it has obtained 15 national patents, 3 provincial-level scientific and technological achievement recognitions and 6 national and provincial science and technology awards, participated in the compilation of several books, led the formulation of 4 industry standards, held more than 80 social positions in national and provincial medical associations, physicians' associations and professional committees, and received more than 30 national and provincial honors and awards. Undertaking the hospital's important public welfare service mission of "reaching the sky and standing on the ground", it has established a comprehensive province-wide thalassemia prevention and control and three-level birth defect prevention and control network, preventing the birth of nearly 10,000 children with severe thalassemia and severe fatal and disabling birth defects, and achieving significant social benefits. "Reaching the sky" means promoting appropriate technologies and measures throughout the province and, for the control of birth defects and healthy birth and child rearing, launching thalassemia gene screening and hereditary deafness gene screening, etc. In cooperation with relevant departments, it has successfully developed a gene screening and testing chip for thalassemia, established a joint screening laboratory for non-invasive prenatal diagnosis gene testing and a Guangdong Province birth defects branch of the National Gene Bank, and taken the lead in the province in prenatal genetic diagnosis of inherited metabolic diseases, providing a clinical testing basis for the detection of rare genetic diseases. "Standing on the ground" means, in accordance with the guidelines of maternal and child health work, facing the grassroots and the population, establishing and improving a prenatal screening and diagnosis network throughout the province covering more than 130 hospitals. Each year, more than 50,000 patient transfers and about 500,000 specimen transfers are made through the network. Among them, Down syndrome screening specimens reached a maximum of more than 260,000 cases in a single year, and each year screening prevents the birth of nearly 300 children with chromosomal abnormalities, reducing the social burden by about 300 million; thalassemia screening covers more than 50,000 cases each year, and in the past ten years nearly 2,000 cases of severe thalassemia have been diagnosed, reducing the economic burden on society by about 2 billion.