On January 11, 2024, The National Medical Products Administration (NMPA) has approved the listing of the “Chromosomal Aneuploidy and Microdeletion Detection Kit (Reversible Terminator Sequencing Method)” (certificate NO: 20243400077), hereinafter referred to as “CNV-seq Detection Kit”, submitted by Annoroad Gene Technology (Beijing) Co., Ltd. This marks a milestone event in the application of high-throughput sequencing technology. Notably, this is the first CNV-seq product approved by the NMPA, capable of simultaneously detecting chromosomal aneuploidy and CNV variations in amniotic fluid samples. This approval not only establishes standards for similar products that approved by future regulatory agencies, but also boosts confidence in the application of high-throughput sequencing(Next-generation sequencing technology, NGS) in prenatal diagnosis within the industry. Furthermore, this signifies another crucial step in building China's birth defect prevention and control system using NGS technology.
Source: National Medical Products Administration (NMPA) Official Website
In recent years, NGS technology has flourished. Since the publication of the "Expert Consensus on the Application of Low-Depth Whole Genome Sequencing Technology in Prenatal Diagnosis" in April 2019, the clinical application value of CNV-seq in prenatal diagnosis and the clarification of genetic etiology has become increasingly important. From the publication of the expert consensus to the approval of the first amniotic CNV-seq kit, the field of prenatal diagnosis has finally achieved gratifying results. CNV-seq provides a better solution for clinical prenatal diagnosis and genetic etiology investigation of "miscarriage tissues" and will continue to support the construction of China's birth defect prevention and control system.
As a pilot unit for high-throughput sequencing clinical applications appointed by the National Health Commission in 2015, Annoroad has accumulated rich experience in clinical applications of NGS. The "Chromosomal Aneuploid