China News Online, October 25th (Chen Jing, Chen Songchang, Shen Yan) Birth defects and chronic diseases seriously affect the quality of the population, but due to the unclear mechanism of developmental diseases, no clinical warnings, and the lack of precise prevention and control technology for hereditary birth defects, Moreover, there are few cures for children after birth, so clinical prevention and treatment are facing huge challenges.
The reporter was informed on the 25th that the Huang Hefeng team, an academician of the Chinese Academy of Engineering and the Obstetrics and Gynecology Hospital of Fudan University, took the lead in setting up a "one-stop prevention and control system for birth defects."
The platform integrates the functions of consultation, examination, genetic big data analysis, genetic interpretation, etc., breaking geographical barriers and realizing efficient remote consultation.
The "One-stop birth defect prevention and control system" of Huang Hefeng's team was unveiled in the "Healthy China" section of the National "Thirteenth Five-Year" Science and Technology Innovation Achievement Exhibition on the same day, attracting a lot of attention.
It is understood that Huang Hefeng’s team has conducted in-depth explorations on the current status of defects and created two major technical systems: early prevention and control of developmental diseases and clinical precision prevention and control of hereditary birth defects. After the integrated innovation of pregnancy-related technologies, the establishment Established the first large-scale clinical diagnosis and treatment platform based on genetic counseling-mutant gene identification-preimplantation genetic diagnosis (PGT)-fetal genetic diagnosis-newborn screening, and formed in technological innovation, clinical transformation and application promotion Series advantages.
In order to further block birth defects from the source, the hospital moved the screening threshold forward, and took the lead in proposing and actively implementing the pilot program of “pre-pregnancy check-ups” for community population and the classification scheme of pre-pregnancy risk groups; Huang Hefeng’s team actively carried out the prevention and control of pre-pregnancy genetic diseases, and currently identified new ones. 19 disease-causing genes, 13 new technologies such as "polar body-embryo-blastocyst sequential gene analysis" were created, and 602 pre-pregnancy single-gene diseases were successfully blocked.
At the same time, the team completed a large-scale cord blood chromosome screening to block the intergenerational transmission of birth defects caused by chromosomal structural mutations; it was the first to carry out neonatal hearing screening and high-risk infant deafness gene testing in Shanghai to actively eliminate dumbness caused by deafness.
The Obstetrics and Gynecology Hospital of Fudan University is also known as the "Red House Hospital".
It is reported that Huang Hefeng's team has led the establishment of the "Red House Birth Defects Alliance". Its members include 83 medical institutions, universities, and scientific research institutes with birth defect diagnosis and treatment related specialties, covering 26 provinces, municipalities and autonomous regions in China.
Relying on this alliance, Huang Hefeng’s team has established a big data platform for related birth defects, drawn a map of common recessive pathogenic genes in the Chinese population, a new map of perinatal structural abnormalities, and a map of chromosomal mutations in the newborn population, providing detailed information for the diagnosis and treatment of birth defects. data.
The team has also established a birth defect gene cloud diagnosis and treatment platform, which cooperates with remote ultrasound to achieve efficient remote consultation, establish a green channel for diagnosis and treatment, and create a new model for remote diagnosis and treatment of intractable diseases.
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