Expert consensus on microbiome sequencing and analysis / 生物工程学报

In the past ten years, the research and application of microbiome has continued to increase. The microbiome has gradually become the research focus in the fields of life science, environmental science, and medicine. Meanwhile, many countries and organizations around the world are launching their own microbiome projects and conducting a multi-faceted layout, striving to gain a strategic position in this promising field. In addition, whether it is scientific research or industrial applications, there has been a climax of research and a wave of investment and financing, accordingly, products and services related to the microbiome are constantly emerging. However, due to the rapid development of microbiome sequencing and analysis related technologies and methods, the research and application from various countries have not yet unified on the standards of technology, programs, and data. Domestic industry participants also have insufficient understanding of the microbiome. New methods, technologies, and theories have not yet been fully accepted and used. In addition, some of the existing standards and guidelines are too general with poor practicality. This not only causes obstacles in the integration of scientific research data and waste of resources, but also gives related companies unfair competition opportunity. More importantly, China still lacks national standards related to the microbiome, and the national microbiome project is still in the process of preparation. In this context, the experts and practitioners of the microbiome worked together and developed the consensus of experts. It can not only guide domestic scientific research and industrial institutions to regulate the production, learning and research of the microbiome, the application can also provide reference technical basis for the relevant national functional departments, protect the scale and standardized corporate company's interests, strengthen industry self-discipline, avoid unregulated enterprises from disrupting the market, and ultimately promote the benign development of microbiome-related industries.

Value of high throughput sequencing in noninvasive prenatal screening / 实用医学杂志

Objective To assess the clinical value of high throughput seuencing (HTS) in noninvasive prenatal testing (NIPT). Methods The results of NIPT of 2 256 cases of women with singleton pregnancy were retrospectively reviewed. Free fetal DNA in maternal peripheral blood was sequenced using HTS, and bioinformatic analysis techniques. Prenatal diagnosis was performed through amniocentesis when NIPT indicated high risks. High risk results from non-invasive screening of fetal chromosomal and prenatal diagnosis were compared. Results All of the 2, 256 specimens were successfully analyzed and 35 cases were found with fetal chromosomal high risks, with an overall detection rate of 0.58％, including 13 cases with high risk for trisomy 21, 1 with trisomy 18, 1 with trisomy 13, 15 with sex chromosome abnormality and 5 with other chromosomal structures abnormality. All the 34 cases had further prenatal diagnosis except 1 case of pregnant woman with high-risk 13-trisomy who took abortion directly and refused further examination. Among 12 cases with high risk for 21-trisomy, 1 with 18-trisomy, 5 with sex chromosome abnormalities and 1 with the deletion of chromosome, 3 were confirmed by traditional karyotyping and/or single nucleotide polymorphism microarray (SNP-array) technology. The coincidence rate of abnormally high risk results of NIPT detection in fetal chromosomal and prenatal diagnosis were 92.85％, 100％, 33.33％ and 20％respectively. Conclusion There is a relatively high positive coincidence rate when compared HTS for screening of high risk for trisomy 21, 18, 13 aneuploidy and prenatal diagnosis and HTS is reliable. While when it comes to the screening of sex chromosome and other chromosomal structures abnormality, HTS still need to be improved and optimized.

Clinical application of high-throughput gene sequencing technology and STR in chromosome karyotype analysis of the villus tissues of spontaneous abortion of spontaneous abortion / 中国综合临床

Objective To analyze the clinical application of high?throughput gene sequencing technolo?gy and STR in chromosome karyotype analysis of the villus tissues of spontaneous abortion. Methods In 27 ca?ses of spontaneous abortion after pregnancy,classic cell of villus tissues culture and chromosomal karyotype anal?ysis,and high ?throughput gene sequencing technology and STR were performed,and then compared the analysis results of two methods. Results ( 1) The successful rate of cell of villus tissues culture and chromosomal karyo?type analysis was 85%( 23/27) ,of high?throughput gene sequencing technology and STR was 96%( 26/27) ,and the difference was not significant( P>0. 05) ( 2) In the 4 cases that failed in karyotype analysis,there were 3 ca?ses showed abnormal chromosomal number variation( CNV) in high?throughput gene sequencing technology and STR. ( 3) Of the 23 cases,chorionic villus was successfully cultured in 10 cases,abnormal karyotypes were iden?tified in 13 cases,the positive rate was 57%. Of the 26 cases,high?throughput gene sequencing technology and STR was successfully checked in 3 cases,abnormal CNV were identified in 23 cases,the positive rate was 85%, the difference was significant(χ2=6.387,P<0.05). (4)The rates of chromosomal number abnormality were 52%( 12/23) and 50% ( 13/26) of karyotype analysis and chromosome aberration detection,respectively. In 10 cases of normal cell culture karyotype,there were 7 cases in the presence of micro deletion / micro repetition de?tected by high?throughput gene sequencing technology and STR. Conclusion The method of massively parallel sequencing in chromosome analysis,compared with the method of cell of villus tissues culture and chromosome a?nalysis,can be accurate and quick,and has high successful rate in detecting the chromosome of non aneuploid and deletion/duplication abnormality,which can be a good complementary and alternative method of the classic cell of villus tissues culture and chromosome karyotype analysis.

Villi Chromosome High-throughput Gene Sequencing of 52 Cases of Missed Abortion / 现代医院

Objective To understand the relationship between embryonic chromosomal abnormalities and missed abortion by high-throughput gene sequencing, so as to provide a basis for guiding the next pregnancy.Meth-ods By chromosome detection on villi chromosome of 52 cases of missed abortion by high-throughput gene sequen-cing technique, the types of chromosome abnormalities and the proportion were investigated.Results Among villi samples from the 52 cases of missed abortion, chromosomal abnormalities were founded in 28 cases, including 24 ca-ses of number abnormality (17 cases of trisomy, 6 cases of triploid and a case of monomer) and 4 cases of structural abnormalities.Conclusion Embryonic chromosomal abnormality is the main cause of missed abortion in early preg-nancy.High-throughput gene sequencing technology used to detect the villi chromosome is comprehensive, fast and accurate, helping to clarify the cause of missed abortion and guide the next pregnancy reasonably.