On November 28, the first domestic NIPT group standard in which Annoroad participated - Technical Standards for Non-invasive Prenatal Screening of Fetal Genomic Diseases Using High-throughput Sequencing of Free DNA Based on Peripheral Plasma in Pregnant Women was officially released.

Non-invasive Prenatal Screening (NIPS) is one of the most popular clinical applications based on high-throughput sequencing technology, and has been recognized by many doctors and pregnant women. In addition to the abnormal number of the three chromosomes 21/18/13, the technology also has the potential to screen for chromosomal microdeletion and microduplication syndrome (pathogenic Copy Number Variation, pCNV).

As NIPS becomes more widely used, clinicians are increasingly facing the questions such as: How consistent are the results of targeted diseases detected by NIPS on different platforms? How does the reporting scope of different platforms NIPS align? Are genetic counseling and data analysis procedures standardized? Is there any guidance on the key points of the whole process quality control? At present, no relevant technical specifications or guidance documents for NIPS screening for genomic diseases have been issued at home and abroad, so there is a lack of a unified answer to the above questions.

Based on that, the Technical Standards for Non-invasive Prenatal Screening of Fetal Genomic Diseases Using High-throughput Sequencing of Free DNA Based on Peripheral Plasma in Pregnant Women, drafted by Guangdong Precision Medicine Application Society, Guangdong Women's and Children's Hospital, together with Annoroad and other relevant units in the industry, was officially released in the "PMC2020 Precision Medicine Conference". This standard is dedicated to the construction of genetic counseling and reporting standards for NIPS screening of genomic diseases, in order to standardize and promote the clinical application of non-invasive prenatal screening for fetal genomic diseases in China.

Director Yin Aihua from Guangdong Women's and Children's Hospital delivered the opening speech. "Because NIPS clinical application has a variety of technology platforms, the sequencing principles of different technical platforms are inconsistent, and the amount of data generated is inconsistent". To this end, the Genetic Disease Branch of Guangdong Precision Medicine Application Society took the lead, and 36 provincial prenatal diagnosis centers nationwide with 50 industry experts participated and jointly drafted the Technical Standards for Non-invasive Prenatal Screening of Fetal Genomic Diseases Using High-throughput Sequencing of Free DNA Based on Peripheral Plasma in Pregnant Women.

The release of this group standard will help achieve a technical consensus on the full-process application details on clinical specification of the technology, better serve a wider group of pregnant women for non-invasive prenatal screening technology, and play a positive role in further reducing birth defects.

As one of the country's first non-invasive prenatal screening clinical application pilot units, Annoroad participated in the formulation of the group standard. As one of the main authors, Dr. Wang Juan, director of Annoroad Clinical Medical Center, was invited to participate in the special training of "Group standards" and delivered a special report entitled Quality Assurance and Standardized Laboratory Procedures for Non-invasive Prenatal Screening Based on NextSeq 550AR Platform.

Dr. Wang Juan introduced Annoroad's consistent persistence in the pursuit of testing quality on the main topics of this group standard. Relying on more than 8 years of laboratory construction and operation experience, Annoroad truly understands and ardently implements the NIPS quality control system, builds a fair, scientific, rigorous, accurate and timely laboratory quality monitoring system in accordance with the quality management policy, which covers the entire system and processes in an all-round way, and achieves strict recording and monitoring.

In addition, Annoroad is also actively exploring new quality assurance measures. Soft and hard combination of fetal free DNA enrichment technology can effectively improve fetal concentration, becomes the basis of high-quality detection results, and further improves the accuracy of detection.

The release of this group standard marks China's leading position in the formulation of advanced technical standards and makes the clinical application of NIPS more reasonable. Annoroad has made important contributions to the formulation of this standard in terms of testing scope, quality optimization, and innovative technology, which also strongly proves Annoroad's strong technical strength in non-invasive prenatal screening. In the future, Annoroad will continue to develop technology and quality control methods to bring better and more reliable clinical products.