Experts break space barriers to realize a new model of off-site diagnosis and treatment of birth defects

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, In addition, there are few cures for children after birth, so clinical prevention and treatment are facing huge challenges
.

The reporter learned on the 25th that Huang Hefeng, an academician of the Chinese Academy of Engineering and the Fudan University Obstetrics and Gynecology Hospital, took the lead in setting up a "one-stop prevention and control system for birth defects
.

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 for 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 terms of technological innovation, clinical transformation and application promotion Series advantages
.

In order to further prevent birth defects from the source, the hospital moved the screening gate forward, and took the lead in proposing and actively implementing a pilot program for “pre-pregnancy check-ups” and pre-pregnancy risk population classification schemes for community populations; Huang Hefeng’s team is actively carrying out the prevention and control of pre-pregnancy genetic diseases, and is currently identifying new ones.
19 disease-causing genes, 13 new technologies including "polar body-embryo-blastocyst sequential gene analysis" were created, and 602 pre-pregnancy monogenic 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 variations; 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 called "Red House Hospital"
.