Recently, the kickoff meeting for the 14th Five-Year National Key Research and Development Program project "New Technology and Clinical Research on Non-invasive Prenatal Synchronous Screening for Various Types of Genetic Diseases" led by Academician Huang Hefeng's team from the Reproductive and Developmental Research Institute of Fudan University was successfully held in Shanghai.
Birth defects are a significant public health issue affecting population health, with autosomal dominant genetic diseases, mainly arising from new mutations, posing a challenge in prenatal screening as risks cannot be eliminated by testing parents. This represents a weak link in the field of birth defect prevention and control.
Dr. Xu Chenming, the project's chief scientist and a researcher at the Genetic Center of Obstetrics and Gynecology Hospital affiliated with Fudan University, revealed that the team has developed a novel non-invasive prenatal screening technology for single-gene diseases on a global scale for the first time. They have also achieved technology transfer. In the future, they will implement this technology in Fudan University-affiliated Obstetrics and Gynecology Hospital and several clinical centers nationwide to establish a screening strategy with demonstrable value for promotion. This aims to provide an effective pathway to reduce China's high birth defect rate.
It is understood that Academician Huang Hefeng, as an expert in the project's steering group, introduced the project's foundation and objectives. Since 2021, Academician Huang Hefeng has led a team of researchers and medical professionals to develop a new generation of NIPT (Non-Invasive Prenatal Testing) technology based on COATE-seq (Coordinated Allele Targeted Enrichment High-Throughput Sequencing). This technology achieves accurate synchronous screening for fetal chromosomal aneuploidy, microdeletions, and autosomal dominant genetic diseases for the first time internationally. Subsequently, a multicenter prospective clinical study involving 1,090 high-risk pregnant women was initiated under her leadership, revealing a 60.7% increase in the detection rate of fetal genetic variations with the new non-invasive prenatal screening technology. Compared to the previous generation NIPT, it detects approximately one-third more affected fetuses, offering higher screening efficiency and accuracy. It also identified 37 cases of single-gene genetic diseases such as Kabuki syndrome and Castro syndrome, filling a gap in prenatal screening technology. The research findings were published in Nature Medicine in January of this year.
Building upon these research achievements, this "14th Five-Year" national key special funding will further iterate and upgrade non-invasive prenatal screening technology. It aims to broaden the spectrum of diseases detectable by NIPT, addressing the shortcomings in the prevention and control of various genetic diseases and complex prenatal screening systems both domestically and internationally.
