Big data research on precise diagnosis and treatment of birth defects

The large-scale advanced equipment/research team, including chip dryers, chip scanners, gene amplifiers, high-throughput gene sequencers, multifunctional flow cytometers, automatic scanning microscopes, and image analysis systems, consists of creative middle-aged and young people under the age of 48, who have been engaged in reproductive genetics clinical medicine and scientific research for many years, I have rich clinical experience and scientific research foundation in the clinical diagnosis and treatment of birth defects. Hebei Provincial People's Hospital has a funding support of 100000 yuan. Interpretation of the relationship between high-throughput sequencing, chromosome gene chip and other detection results and clinical expression Establish a birth defect precise diagnosis and treatment team, strengthen scientific research, improve diagnosis and treatment technology, strengthen discipline construction, cultivate professional talent team, establish a provincial birth defect collaboration network, strengthen cooperation with all counties and cities, improve the overall level of birth defect prevention and treatment in our province, and solve more difficult cases. As a team that places equal emphasis on clinical and scientific research, talent cultivation is aimed at familiarizing oneself with the diagnosis and treatment techniques of maternal and fetal medicine and genetics, understanding the latest developments, encouraging team members to apply for doctoral degrees, conduct postdoctoral research, and study abroad, and cultivating a team with a cooperative spirit and a high level of technology. We plan to cultivate 6 graduate students and 2 doctoral students. By the end of the second year of scientific research, the construction of the abnormal fetal ultrasound database and the clinical and prenatal diagnosis database of birth defects were completed, and 20 papers were successively published and applied for the Science and Technology Achievement Award. As a key discipline of fetal medicine in Hebei Province, our hospital led the establishment of the Hebei Birth Defects Alliance in 2019, playing a leading role in fetal medicine in Hebei Province. Diagnosis, treatment, and interpretation of difficult birth defects in Hebei Province and surrounding provinces and cities will be the future development direction of our department. 2. More than 30 scientific research papers related to the project have been published, including 4 SCI papers. In recent years, they have won the Provincial Science and Technology Progress Award, 3 Hebei Medical Science and Technology Awards, and more than 10 provincial and department level projects. Relevant research is ongoing. 3. Strengthen the medical skill training of the birth defect diagnosis and treatment team in clinical practice, improve the detection rate of birth defects, and conduct grassroots free clinics or study class training, establish a mature birth defect cooperation network, treat difficult cases of fetal medicine in the province, conduct prenatal diagnosis, fetal gene testing, and intrauterine treatment. 4. Talent cultivation: Familiarize oneself with the diagnosis and treatment techniques of maternal and fetal medicine and genetics, understand the latest developments, encourage team members to apply for doctoral degrees, conduct postdoctoral research, and study abroad, and cultivate a team with a cooperative spirit and a high level of technology. We plan to cultivate 6 graduate students and 2 doctoral students. 5. By the end of the second year of scientific research, the construction of abnormal fetal ultrasound database and clinical and prenatal diagnosis database for birth defects was completed, and 20 papers were successively published and applied for the Science and Technology Achievement Award. The incidence rate of birth defects in China is around 5.6%, with approximately 900000 new cases of birth defects added each year. Among them, there are about 250000 clinically visible birth defects at birth, and genetic diseases are the main component. There are many types of birth defects and their causes are complex. The national birth defect prevention and control network is not yet perfect, and there is a lack of specific prevention and intervention measures. The work of birth defect prevention and control still has a long way to go. In recent years, the technology of diagnosing chromosomal diseases based on the analysis of in vitro gene amplification products has become increasingly mature, such as fluorescence quantitative PCR related technology, multiple link probe amplification technology, Bacterial artificial chromosome labeling magnetic bead separation technology, etc. These technologies have the characteristics of rapid detection, high detection flux, and play an increasingly important role in prenatal diagnosis. The application of exon capture sequencing technology provides great convenience for rapid and accurate prenatal diagnosis of difficult cases and rare diseases. However, exon sequencing cannot detect mutations in intron regions, UTR regions, and inter gene regions. Whole genome sequencing is needed to further detect these types of mutations. However, at present, the development of molecular diagnostic technology does not match the ability of clinical genetic counseling. The sophisticated diagnostic and intervention technology does not match the demand for popularization of appropriate technology. There is a problem of high prevention and treatment costs, including discipline construction, career system, resident rotation, and medical continuing education. Our province has ten thousand cases of newborn birth defects every year, and there are 14 prenatal diagnosis institutions, 105 prenatal screening institutions, and 14 neonatal disease screening institutions in the province. However, most institutions only focus on primary prevention, and cannot accurately interpret the rapidly developing molecular diagnosis results, which cannot effectively reduce the birth defect rate,. Only by carrying out precise diagnosis and treatment of birth defects, utilizing advanced technology to timely and accurately diagnose difficult and rare diseases, detecting pathogenic genes, and obtaining big data research on birth defects can we truly achieve three-level prevention of birth defects. The Reproductive Genetics Department of Hebei Provincial People's Hospital is the prenatal diagnosis center of Hebei Province. Fetal medicine has been rated as the key discipline of Hebei Province. It is the earliest and best prenatal diagnosis center in Hebei Province. It receives difficult cases referred by municipal hospitals across the province. It integrates clinical and genetic laboratories. It has genetic counseling clinic, fetal ultrasound, prenatal diagnosis, fetal reduction and intrauterine treatment and other project laboratories to carry out cytogenetics, high-throughput sequencing FISH, chips, PCR, biochemical detection, and a series of high-precision cellular and molecular diagnostic technologies. At present, nearly 20000 cases of prenatal diagnosis of fetuses have been carried out, and hundreds of cases of intrauterine treatment of fetuses have been carried out. The province has taken the lead in carrying out umbilical cord blood puncture surgery, microwave radiofrequency ablation of single velvet twins and multiple fetuses to reduce fetuses, filling the gap in this field. It is at a leading level in our province and at an advanced level in the country. The project cooperates with relevant experts from Yale University School of Medicine in the United States, and uses their advanced technical guidance in molecular medicine to conduct comprehensive and systematic etiology research on birth defects, so as to obtain clinical big data of birth defects and provide effective support and basis for the prevention and treatment of birth defects.