OBJECTIVE: To assess the practical and health economical values of non-invasive prenatal test (NIPT) in Changsha Municipal Public Welfare Program. METHODS: A retrospective analysis was carried out on 149 165 women undergoing NIPT test from April 9, 2018 to December 31, 2019. For pregnant women with high risks, invasive prenatal diagnosis and follow-up of pregnancy outcome were conducted. The cost-benefit of NIPT for Down syndrome was analyzed. RESULTS: NIPT was carried out for 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for which outcome were available in 148 538 (99.86%). 90% of pregnant women from the region accepted the screening with NIPT. 415 (0.27%) were diagnosed as high risk. Among these, 381 (91.81%) accepted amniocentesis, which led to the diagnosis of 212 cases of trisomy 21 (PPV=85.14%), 41 cases with trisomy 18 (PPV=48.81%) and 10 cases with trisomy 13 (PPV=20.83%). The sensitivity and specificity of NIPT for trisomy 21, trisomy 18 and trisomy 13 were (97.70%, 99.98%), (97.62%, 9.97%) and (100%, 99.97%), respectively. In addition, 213 and 30 cases were diagnosed with sex chromosomal aneuploidies (PPV=46.2%) and other autosomal anomalies (PPV=16.57%), respectively. For Down syndrome screening, the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan, respectively. The cost-benefit ratio was 1: 8.75, and safety index was 0.0035. CONCLUSION NIPT is a highly accurate screening test for trisomy 21, which was followed by trisomy 18 and sex chromosomal aneuploidies, while it was less accurate for other autosomal aneuploidies. The application of NIPT screening has a high health economical value.
Aneuploidy ; Cost-Benefit Analysis ; Female ; Humans ; Noninvasive Prenatal Testing ; Pregnancy ; Retrospective Studies ; Trisomy 18 Syndrome/genetics*

Objective:To analyze the sequence characteristics，chromosomal location，gene structure，conserved motifs，phylogenetic evolution and differential gene expressions of the Cannabis sativa YABBY transcription factor family，in order to provide a molecular basis for in-depth study of YABBY gene function and theoretical support for the selection and breeding of superior hemp varieties. Method:The bio-informatics method was used to identify and analyze the CsYABBY gene family of the original hemp seed plant. PlantTFDB，ExPASy，MEME，CELLO，PLANTCARE and other online websites and TBtools，MEGA，DNAMAN and other software were used for prediction，visualization and analysis. Result:C. sativa contains 6 YABBY gene members distributed on 5 chromosomes，in which 5 members are localized in the nucleus and 1 in extracellular， they consist of 185-235 amino acids， and the isoelectric point is between 5.05 and 9.34， the molecular weight is between 20 582.45-26 282.7 Da. All of CsYABBY proteins contain two conserved domains， namely Zinc finger domain and YABBY domain. CsYABBY genes have multiple cis-acting elements，and their expressions differ in different tissues and cultivars. Conclusion:The expressions of CsYABBY may be affected by hormones and externally environmental factors. CsYABBY gene expressions are tissue-specific. In addition，YABBY transcription factor family may play an important role in regulating the development of C. sativa female flowers，and subfamilies YAB1 and YAB5 may be involved in the synthesis of cannabinoids.

LBD(lateral organ boundaries)transcription factors play an important role in the regulation of plant growth, development and secondary metabolism. In order to explore the function of LBD genes in cannabis, the Cannabis sativa genome and transcriptome were used to identify the C. sativa LBD gene family, and analyzed their expression patterns. Our results showed that the cannabis LBD contains 32 members, which were divided into two major categories, seven sub-families. Class Ⅰ was divided into 5 sub-families, named Class Ⅰ_a to Class Ⅰ_e, while Class Ⅱ was divided into 2 sub-families, including Class Ⅱ_a and Class Ⅱ_b. Analysis showed that the number of amino acids encoded LBDs was between 172 and 356, and the isoelectric point was between 4.92 and 9.43. The mole-cular weight of LBD was between 18 862.92 Da and 40 081.33 Da, and most members are located in the nucleus. Chromosome positioning of LBD showed that 32 members were unevenly distributed on 10 chromosomes of C. sativa LBD transcription factor domain, gene structure and motifs are relatively conservative, and the characteristics of different class members are similar. The upstream promoter region of the gene contains a variety of cis-acting elements related to plant hormones and environmental factors, C. sativa LBD genes have different expression patterns in the stems, leaves, and flowers of ZYS varieties(low tetrahydrocannabinol, high cannabidiol). The members of the LBD gene family are mainly expressed in the flowers and stems of ZYS varieties, while members expressed in the leaves very few; Class Ⅱ members CsLBD21 and CsLBD23 are expressed in flowers and stems, and CsLBD8 and CsLBD18 are expressed in flowers, stems and leaves. These genes may participate in the growth and development of cannabis and affect the biosynthesis of cannabinoids. This study laid the foundation for the subsequently functional research of the cannabis LBD gene family.
Cannabis/metabolism* ; Gene Expression Regulation, Plant ; Humans ; Medicine, Chinese Traditional ; Phylogeny ; Plant Proteins/metabolism* ; Seeds/metabolism*

Matrix-assisted laser desorption/ionization mass spectrometry imaging(MALDI-MSI) is a novel technique for in-situ distribution of various substances in tissue without labeling. This technique is increasingly applied to the study of medicinal plants owing to its high spatial resolution and its potential of in-situ analysis in small molecules. In this study, the structural information and their fragmentation patterns of the midazole alkaloids(1,3-dibenzyl-4,5-dimethylimidazolium chloride and 1,3-dibenzyl-2,4,5-trimethylimi-dazolium chloride) and benzylglucosinolate in the medicinal plant Maca(Lepdium meyeni) root were analyzed by ultra-high-performance liquid phase combined with LTQ-Orbitrap mass spectrometry(UHPLC-HR-MS). The localization of these active ingredients in the cross-sections of Maca root was performed by MALDI-MSI. These results demonstrated that the two types of imidazole alkaloids had a similar distributed pattern. They were located more in the cortex and the periderm than those in the medulla of a lateral root, while the localization of benzylglucosinolate was concentrated in the center of the root rather than in the cortex and the periderm. The precise spatial distribution of various secondary metabolites in tissue provides an important scientific basis for the accumulation of medicinal plant active ingredients in tissues. In addition, this imaging method is a promising technique for the rapid evaluation and identification of the active ingredients of traditional Chinese medicine in plant tissues, as well as assisting the research on the processing of medicinal plants.
Chromatography, High Pressure Liquid ; Lepidium/chemistry* ; Phytochemicals/analysis* ; Plant Roots/chemistry* ; Plants, Medicinal/chemistry* ; Secondary Metabolism ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Objective:The TIFY gene family will be identified and characterized from the whole genome level in Cannabis sativa，which will lay the foundation for gene function study on TIFY family genes and their regulation mechanism on the biosynthesis of cannabinoids and other secondary metabolites. Method:Using the existing genomic data of cannabis，the CsTIFY genes were identified through bioinformatics analysis tools such as NCBI，PlantTFDB，MEME and TBtools etc.，and physicochemical properties，phylogenetic trees，gene structures，chromosome locations and gene expression patterns were analyzed and visualized. Result:Fourteen TIFY family genes（CsTIFY1-CsTIFY14） were identified in Cannabis sativa，which belong to four subfamilies：TIFY，JAZ，ZML，and PPD. The CsTIFYs are composed of 365-1 369 bp nucleotides encoding 118-442 amino acid residues，and their isoelectric points are 4.64-9.96. The 14 CsTIFYs are unevenly distributed on 8 chromosomes，and their proteins are all located in the nucleus. The promoter of CsTIFYs contain multiple abiotic stress responsive cis-acting elements，which indicated that CsTIFYs might involved in the regulation of different abiotic stresses. Transcriptome profiling revealed that CsTIFYs expressed differently in female flowers of 10 differently cannabis varieties，or in flowers，bracts，stems，and leaves of the same variety. Conclusion:Fourteen TIFY family genes were characterized from the whole genome level in C. sativa，and their phylogenetic evolutions and gene expression patterns were analyzed，indicating that CsTIFYs may play important regulatory roles in JA signal transduction，abiotic stress and cannabinoid biosynthesis. This study will provide valuable reference for gene function study of the TIFY family genes in cannabis and cannabis breeding.