1.Clinical Efficacy and Mechanism of Bupi Qingfei Prescription in Treating Stable Bronchiectasis
Zi YANG ; Guangsen LI ; Bing WANG ; Bo XU ; Jianxin WANG ; Sheng CAO ; Xinyan CHEN ; Xia SHI ; Qing MIAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(2):162-169
ObjectiveTo explore the clinical efficacy and mechanism of Bupi Qingfei prescription (BPQF) in treating stable bronchiectasis in the patients with syndromes of lung-spleen Qi deficiency and phlegm-heat accumulation in the lungs. MethodsA randomized, double-blind, placebo-controlled trial was conducted. Patients were randomized into BPQF and placebo control (PC) groups. On the basis of conventional Western medicine treatment, the BPQF granules and placebo were respectively administered at 10 g each time, twice a day, for a course of 24 weeks. The TCM symptom scores, Quality of Life Questionnaire for Bronchiectasis (QOL-B) scores, lung function indicators, T lymphocyte subsets, level of inflammatory factors in the sputum, level of neutrophil elastase (NE) in the sputum, and occurrence of adverse reactions were observed before and after treatment in the two groups. ResultsA total of 64 patients completed the study, encompassing 32 in the BPQF group and 32 in the PC group. After treatment, the BPQF group showed decreased TCM symptom scores (P<0.01), increased QOL-B scores (P<0.01), and declined levels of tumor necrosis factor (TNF)-α and NE (P<0.05, P<0.01). The PC group showed decreased TCM symptom (except spleen deficiency) scores (P<0.01), increased the QOL-B health cognition and respiratory symptom domain scores (P<0.05, P<0.01), and a declined TNF-α level (P<0.01). Moreover, the BPQF group had lower TCM symptom (except chest tightness) scores (P<0.05, P<0.01), higher QOL-B (except treatment burden) scores (P<0.05, P<0.01), and lower levels of interleukin-6 and TNF-α (P<0.05) than the PC group. Neither group showed serious adverse reactions during the treatment process. ConclusionBPQF can ameliorate the clinical symptoms of stable bronchiectasis patients who have lung-spleen Qi deficiency or phlegm-heat accumulation in the lungs by regulating the immune balance and inhibiting airway inflammatory responses.
2.Expert consensus on precise intervention with repetitive transcranial magnetic stimulation for sleep disorders in the elderly
Yuan SHAO ; Jian WANG ; Wei LIANG ; Yingli ZHANG ; Gangqiang HOU ; Xia LI ; Yi XING ; Lu WANG ; Shi TANG ; Yongjun WANG
Sichuan Mental Health 2026;39(2):97-105
In recent years, repetitive transcranial magnetic stimulation (rTMS) has garnered significant attention as a therapeutic approach for sleep disorders in the elderly. However, the prevailing rTMS protocols are predominantly developed based on normative neurophysiological data derived from young adults and fail to incorporate individualized parameters tailored to the brain characteristics of the elderly. To address this gap, the consensus development group synthesized the latest evidence from 2010 to 2025 and established a standardized rTMS protocol specifically for elderly patients with sleep disorders. Adhering to the Appraisal of Guidelines for Research and Evaluation II (AGREE II) framework, systematically screened randomized controlled trials (RCTs) and systematic reviews regarding rTMS in the treatment of sleep disorders across various conditions. Meanwhile, the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system was employed to rigorously grade the quality of evidence and the strength of recommendations. This consensus guideline delineates precise rTMS protocols for the management of sleep disorders in the elderly, highlights the adjustment of stimulation intensity according to scalp-cortex distance recommends either MRI‑guided neuronavigation or the Beam F3/F4 heuristic approach for accurate target localization, thereby providing precise rTMS intervention protocol for sleep disorders in the elderly, aiming to enhance clinical efficacy while ensuring treatment safety. [Funded by National Key Research and Development Program (number, 2023YFC3603200); General Program of Shenzhen Science and Technology Innovation Commission (number, JCYJ20240813112859008, JCYJ20240813112900002); Youth Program of Shenzhen Kangning Hospital (number, KN2023A004); www.guidelines-registry.cn number, PREPARE-2026CN530]
3.Fluorescence Suppression Method of Raman Spectroscopy and Its Application in Skin and Cosmetics Analysis
Yun-Xia CHEN ; Jia-Rong WANG ; Jian-Yu ZHU ; Shi-Wen LIN ; Ya-Nan LIU ; Xiao-Yue MA ; Guang-Cheng XI ; Juan LIU
Progress in Biochemistry and Biophysics 2026;53(7):1914-1926
Owing to its inherent advantages—such as being non-destructive, rapid, highly molecule-specific, and minimally interfered with by moisture—Raman spectroscopy has been widely adopted in the fields of skin barrier function assessment, monitoring the transdermal penetration of active cosmetic ingredients, and the identification and quality control of cosmetic products. Despite these strengths, the practical application of this technique faces a significant bottleneck: the strong fluorescence background generated by endogenous skin components and exogenous cosmetic additives. Endogenous skin substances, such as structural proteins (e.g., collagen and elastin), metabolic coenzymes (e.g., nicotinamide adenine dinucleotide), and pigments (e.g., melanin), together with exogenous cosmetic constituents like organic colorants, chemical sunscreens, and fragrances, often possess strong absorption and emission characteristics. When excited by lasers, these components produce a fluorescence background that can be 106 to 108 times stronger than the Raman scattering signals, effectively masking the inherently weak vibrational fingerprint information. In recent years, driven by the rapid development of optoelectronic hardware and artificial intelligence algorithms, fluorescence suppression strategies have evolved from isolated, single-method approaches into comprehensive, multi-level synergistic systems. These systems are categorized into three distinct tiers: sample preparation, signal acquisition, and data processing. At the sample preparation level, techniques such as photobleaching and surface-enhanced Raman spectroscopy (SERS) are employed to eliminate or bypass the generation of fluorescence at the source. At the signal acquisition level, instrumental improvements—including the use of long-wavelength near-infrared excitation (typically 785 nm or 1 064 nm), confocal spatial filtering, and shifted excitation Raman difference spectroscopy (SERDS)— are utilized to physically isolate Raman signals from the fluorescence background. Furthermore, at the data processing level, numerical baseline correction methods such as polynomial fitting, penalized least squares (e.g., airPLS, arPLS), wavelet transform, and derivative algorithms are increasingly integrated into the analytical pipeline to extract Raman spectral features from mixed signals without increasing hardware costs or acquisition time. This review provides a systematic categorization and critical evaluation of these fluorescence suppression methods, detailing their underlying principles, technical advantages, and inherent limitations in diverse experimental setups. By focusing on critical application scenarios—including skin barrier assessment, percutaneous absorption monitoring, the routine quality control of cosmetics, and the emerging field of portable on-site detection—this paper explores the current state of technique selection and optimization. Finally, the article discusses future development trends, emphasizing the necessity of constructing adaptive, tiered suppression strategies, developing intelligent and automated data processing algorithms, and promoting the integration of portable, multi-modal diagnostic devices. The objective of this review is to provide a comprehensive technical reference to facilitate the transition of Raman spectroscopy from a specialized laboratory tool into a routine, robust analytical platform for advancements in skin science and cosmetic research.
4.Effect Analysis of Different Interventions to Improve Neuroinflammation in The Treatment of Alzheimer’s Disease
Jiang-Hui SHAN ; Chao-Yang CHU ; Shi-Yu CHEN ; Zhi-Cheng LIN ; Yu-Yu ZHOU ; Tian-Yuan FANG ; Chu-Xia ZHANG ; Biao XIAO ; Kai XIE ; Qing-Juan WANG ; Zhi-Tao LIU ; Li-Ping LI
Progress in Biochemistry and Biophysics 2025;52(2):310-333
Alzheimer’s disease (AD) is a central neurodegenerative disease characterized by progressive cognitive decline and memory impairment in clinical. Currently, there are no effective treatments for AD. In recent years, a variety of therapeutic approaches from different perspectives have been explored to treat AD. Although the drug therapies targeted at the clearance of amyloid β-protein (Aβ) had made a breakthrough in clinical trials, there were associated with adverse events. Neuroinflammation plays a crucial role in the onset and progression of AD. Continuous neuroinflammatory was considered to be the third major pathological feature of AD, which could promote the formation of extracellular amyloid plaques and intracellular neurofibrillary tangles. At the same time, these toxic substances could accelerate the development of neuroinflammation, form a vicious cycle, and exacerbate disease progression. Reducing neuroinflammation could break the feedback loop pattern between neuroinflammation, Aβ plaque deposition and Tau tangles, which might be an effective therapeutic strategy for treating AD. Traditional Chinese herbs such as Polygonum multiflorum and Curcuma were utilized in the treatment of AD due to their ability to mitigate neuroinflammation. Non-steroidal anti-inflammatory drugs such as ibuprofen and indomethacin had been shown to reduce the level of inflammasomes in the body, and taking these drugs was associated with a low incidence of AD. Biosynthetic nanomaterials loaded with oxytocin were demonstrated to have the capability to anti-inflammatory and penetrate the blood-brain barrier effectively, and they played an anti-inflammatory role via sustained-releasing oxytocin in the brain. Transplantation of mesenchymal stem cells could reduce neuroinflammation and inhibit the activation of microglia. The secretion of mesenchymal stem cells could not only improve neuroinflammation, but also exert a multi-target comprehensive therapeutic effect, making it potentially more suitable for the treatment of AD. Enhancing the level of TREM2 in microglial cells using gene editing technologies, or application of TREM2 antibodies such as Ab-T1, hT2AB could improve microglial cell function and reduce the level of neuroinflammation, which might be a potential treatment for AD. Probiotic therapy, fecal flora transplantation, antibiotic therapy, and dietary intervention could reshape the composition of the gut microbiota and alleviate neuroinflammation through the gut-brain axis. However, the drugs of sodium oligomannose remain controversial. Both exercise intervention and electromagnetic intervention had the potential to attenuate neuroinflammation, thereby delaying AD process. This article focuses on the role of drug therapy, gene therapy, stem cell therapy, gut microbiota therapy, exercise intervention, and brain stimulation in improving neuroinflammation in recent years, aiming to provide a novel insight for the treatment of AD by intervening neuroinflammation in the future.
5.Sufei Pingchuan Formula (肃肺平喘方) for the Treatment of Bronchiectasis Patients Combined with Airflow Limitation of Phlegm-Heat Obstructing the Lung and Lung-Spleen Qi Deficiency Syndrome: A Randomised Controlled Trial
Shasha YUAN ; Haiyan ZHANG ; Xia SHI ; Bing WANG ; Xiaodong CONG ; Qing MIAO
Journal of Traditional Chinese Medicine 2025;66(6):581-587
ObjectiveTo evaluate the effectiveness and safety of Sufei Pingchuan Formula (肃肺平喘方) in the treatment of bronchiectasis with airflow limitation, phlegm-heat obstructing the lung, and lung-spleen qi deficiency syndrome. MethodsA randomized, double-blind, placebo-controlled trial was conducted. A total of 72 patients with stable bronchiectasis with airflow limitation of phlegm-heat obstructing the lung and lung-spleen qi deficiency syndrome were randomly divided into treatment group and control group, with 36 cases in each group. On the basis of regular inhalation of tiotropium bromide inhalation spray, the treatment group was given Sufei Pingchuan Formula granules, and the control group was given Sufei Pingchuan Formula granule simulant. The course of treatment in both groups was 12 weeks. The pulmonary function of both groups before and after treatment was observed, specifically focusing on forced expiratory volume in one second (FEV1); the modified British Medical Research Council (mMRC) dyspnea scale, 24-hour sputum volume, COPD assessment test (CAT), and traditional Chinese medicine (TCM) syndrome scores were assessed before treatment and after 4, 8, and 12 weeks of treatment; acute exacerbations were recorded at weeks 4, 8, and 12; additionally, changes in routine blood tests, urinalysis, liver and kidney function, and adverse events were monitored before and after treatment. ResultsAfter treatment, 4 patients in the treatment group and 6 in the control group dropped out. After 12 weeks of treatment, FEV1 increased in both groups compared to pre-treatment levels (P<0.05), but the difference between groups was not statistically significant (P>0.05). Compared to before treatment, the treatment group showed a reduction in mMRC scores after 12 weeks (P<0.05) and a decrease in 24-hour sputum volume, CAT scores, and TCM syndrome scores at weeks 4, 8, and 12 (P<0.05). In the control group, 24-hour sputum volume decreased after 12 weeks (P<0.05), and TCM syndrome scores decreased at weeks 8 and 12 (P<0.05). Compared to the control group, the treatment group showed a greater reduction in mMRC scores at week 12 (P<0.05), a decrease in 24-hour sputum volume and TCM syndrome scores at weeks 4, 8, and 12 (P<0.05), and lower CAT scores at weeks 8 and 12 (P<0.05). The frequency and number of acute exacerbations in the treatment group were significantly lower than those in the control group at week 12 (P<0.05). No severe adverse events occurred in either group. ConclusionSufei Pingchuan Formula can improve the pulmonary function FEV1, the severity of dyspnea, reduce 24-hour sputum volume and frequent acute exacerbations, and improve the quality of life in patients with bronchiectasis and airflow limitation, with good safety.
6.Guideline for Adult Weight Management in China
Weiqing WANG ; Qin WAN ; Jianhua MA ; Guang WANG ; Yufan WANG ; Guixia WANG ; Yongquan SHI ; Tingjun YE ; Xiaoguang SHI ; Jian KUANG ; Bo FENG ; Xiuyan FENG ; Guang NING ; Yiming MU ; Hongyu KUANG ; Xiaoping XING ; Chunli PIAO ; Xingbo CHENG ; Zhifeng CHENG ; Yufang BI ; Yan BI ; Wenshan LYU ; Dalong ZHU ; Cuiyan ZHU ; Wei ZHU ; Fei HUA ; Fei XIANG ; Shuang YAN ; Zilin SUN ; Yadong SUN ; Liqin SUN ; Luying SUN ; Li YAN ; Yanbing LI ; Hong LI ; Shu LI ; Ling LI ; Yiming LI ; Chenzhong LI ; Hua YANG ; Jinkui YANG ; Ling YANG ; Ying YANG ; Tao YANG ; Xiao YANG ; Xinhua XIAO ; Dan WU ; Jinsong KUANG ; Lanjie HE ; Wei GU ; Jie SHEN ; Yongfeng SONG ; Qiao ZHANG ; Hong ZHANG ; Yuwei ZHANG ; Junqing ZHANG ; Xianfeng ZHANG ; Miao ZHANG ; Yifei ZHANG ; Yingli LU ; Hong CHEN ; Li CHEN ; Bing CHEN ; Shihong CHEN ; Guiyan CHEN ; Haibing CHEN ; Lei CHEN ; Yanyan CHEN ; Genben CHEN ; Yikun ZHOU ; Xianghai ZHOU ; Qiang ZHOU ; Jiaqiang ZHOU ; Hongting ZHENG ; Zhongyan SHAN ; Jiajun ZHAO ; Dong ZHAO ; Ji HU ; Jiang HU ; Xinguo HOU ; Bimin SHI ; Tianpei HONG ; Mingxia YUAN ; Weibo XIA ; Xuejiang GU ; Yong XU ; Shuguang PANG ; Tianshu GAO ; Zuhua GAO ; Xiaohui GUO ; Hongyi CAO ; Mingfeng CAO ; Xiaopei CAO ; Jing MA ; Bin LU ; Zhen LIANG ; Jun LIANG ; Min LONG ; Yongde PENG ; Jin LU ; Hongyun LU ; Yan LU ; Chunping ZENG ; Binhong WEN ; Xueyong LOU ; Qingbo GUAN ; Lin LIAO ; Xin LIAO ; Ping XIONG ; Yaoming XUE
Chinese Journal of Endocrinology and Metabolism 2025;41(11):891-907
Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.
7.Current status and influencing factors of fear of ulcer recurrence in patients with diabetic foot
Qian WANG ; Hongjuan ZHU ; Na SHI ; Zhenhua XIA ; Hongli YU ; Liwei WANG
Chinese Journal of Nursing 2025;60(20):2486-2492
Objective To explore the fear of ulcer recurrence in patients with diabetic foot and analyze its influencing factors,so as to provide strategies for medical staff to implement comprehensive and personalized nursing interventions.Methods From February 2024 to March 2025,convenience sampling was used to select inpatients and outpatients with diabetic foot ulcers from 6 tertiary hospitals in China as the survey subjects.The general information questionnaire,ADL,MNA,PSQI,Diabetic Foot Self-Management Behavior Scale and FOP-Q-SF were used to investigate and analyze the results.Results A total of 191 questionnaires were distributed and 186 valid questionnaires were returned,with an effective recovery rate of 97.38%.The total score of ulcer recurrence fear of diabetic foot patients was(31.78±7.41).Binary Logistic regression analysis showed that nutritional status,sleep quality,duration of diabetes,other chronic diseases,family per capita monthly income and medical insurance were the influencing factors of ulcer recurrence fear in patients with diabetic foot(P<0.05).Conclusion Patients with diabetic foot have a high level of fear of ulcer recurrence.Nutritional status,sleep quality,duration of diabetes,combined with other chronic diseases,family per capita monthly income,and medical insurance are its influencing factors.Nursing staff should take targeted nursing measures according to its influencing factors to reduce the occurrence of patients' fear of ulcer recurrence.
8.Impacts of retinal non-perfusion areas on neovascular glaucoma secondary to proliferative diabetic retinopathy
Deyu XIA ; Jinyan ZHANG ; Mingfang WANG ; Qingmin JIANG ; Dengrui XU ; Yawen SHI ; Xiuyun LI
Recent Advances in Ophthalmology 2025;45(5):375-381
Objective To compare the distribution characteristics of retinal capillary non-perfusion areas(NPAs)across different layers and regions in patients with neovascular glaucoma(NVG)secondary to proliferative diabetic retinop-athy(PDR)versus those with PDR alone through wide-field swept-source optical coherence tomography angiography(SS-OCTA)and to analyze the impacts of NPAs on the development of NVG.Methods This prospective cross-sectional study enrolled 33 patients with PDR(33 eyes,the PDR group)and 30 patients with NVG(30 eyes,the PDR+NVG group)diag-nosed at Affiliated Hospital of Shandong Second Medical University(formerly Weifang Medical University)from January 2022 to June 2023.The fundus examination was performed using SS-OCTA,and the NPA boundaries of the superficial capil-lary plexus(SCP)and deep capillary plexus(DCP)of the retina were manually delimited with the aid of ImageJ.The reti-na was divided based on two methods.Specifically,according to different concentric circles,the retina could be divided in-to the foveal area,parafoveal area,perifoveal area,annulus6-9,annulus9-12,annulus12-retinal boundary;besides,the ret-ina could also be divided into four quadrants(supratemporal,infratemporal,supranasal,and infranasal quadrants)based on the horizontal and vertical lines centered on the macular fovea.Based on that,the NPA area and ischemia index(ISI)in each layer and subdivision of the two groups of patients were counted.Additionally,the NPA and ISI in different concentric circles and different quadrants of the SCP and DCP were compared between the two groups.Moreover,the distribution characteristics of NPAs as well as the effect of NPAs on NVG were analyzed.Results(1)The NPA area and ISI in the DCP were larger than those in the SCP in both groups(all P<0.001);the NPA area and ISI in the SCP and DCP of patients in the PDR+NVG group were larger than those in the PDR group(all P<0.001).(2)In the supratemporal,infratemporal,supranasal,and infranasal quadrants,the NPA area and ISI in the SCP and DCP of patients in the PDR+NVG group were larger than those in the PDR group(all P<0.01).The NPA area in the inferotemporal quadrant was the largest in the SCP and DCP,respectively,within each group(all P<0.01).(3)The differences in the NPA area and ISI between the two groups were statistically significant in the annulus6-9,annulus9-12,and annulus12-retinal boundary in the SCP and DCP(all P<0.01).The differences in the NPA area and ISI were statistically significant between different annular subdivisions in the SCP and DCP within each group(all P<0.001).The multiple comparison results showed that the NPA area and ISI of the annulus12-retinal boundary in the SCP and DCP were larger than those in other annuli in both groups(all P<0.05).The NPA area and ISI of the annulus9-12 were larger than those of the parafoveal and perifoveal areas;the NPA area and ISI of the annulus6-9 were larger than those of the parafoveal area(all P<0.05).There was no statistically significant differ-ence in the NPA area and ISI in the remaining annuli(all P>0.05).(4)The multivariate logistic regression analysis showed that the NPA area and ISI in the subnasal quadrant of the SCP were negatively correlated with the risk of NVG sec-ondary to PDR(P=0.036 and 0.038).The increased NPA area and ISI in the subnasal quadrant of the DCP were risk fac-tors for NVG secondary to PDR,and they may increase the risk of NVG(P=0.029 and 0.028).Conclusion The in-creased NPA area and ISI in the subnasal quadrant of the DCP were risk factors for secondary NVG in patients in the PDR group.
9.Correlation between triglyceride-glucose index and hyperuricemia in males with normal fasting blood glucose levels
Jing XUE ; Xiaowei WEI ; Suying XIA ; Weibo ZHAO ; Lintao SHI ; Jinyi SHI ; Haiying JIA ; Yueying YANG ; Xiao YANG ; Aihong WANG
Chinese Journal of Diabetes 2025;33(3):205-209
Objective To explore the correlation between triglyceride-glucose(TyG)index and hyperuricemia in men with normal fasting blood glucose(FPG)levels.Methods A total of 309 men with normal FPG who participated in a health examination at the Ninth Medical Center of the People's Liberation Army General Hospital in April 2024 were enrolled in this study.All the subjects were divided into the normal uric acid(NUA,n=218)group and the hyperuricemia(HUA,n=91)group according to serum uric acid(SUA)levels.Results Scr,TG,weight,SBP,DBP,BMI,ALT,AST,γ-GGT,and TyG index were higher in the HUA group than in the NUA group(P<0.05).Pearson and Spearman correlation analysis showed that SUA were positively correlated with Scr,eGFR,TG,weight,SBP,DBP,BMI,ALT,AST,γ-GGT and TyG(P<0.05),and negatively correlated with HDL-C(P<0.05).Logistic regression analysis showed that after adjusting for confounding factors,TyG index remained an important influencing factor for HUA.ROC curve analysis showed that the area under the ROC curve of TyG index predicting hyperuricemia in men with normal FPG was 0.665,with an cutoff value of 8.45.Conclusions TyG index in men with normal FPG are influencing factors for hyperuricemia,indicating that hyperuricemia has a close association with insulin resistance,and is an important component of metabolic syndrome.
10.Indications for prenatal diagnosis using copy number variation-sequencing and detection of abnormalities: a retrospective analysis of 17 994 cases
Panlai SHI ; Yaqin HOU ; Conghui WANG ; Yanjie XIA ; Duo CHEN ; Yongchao LIU ; Junke XIA ; Li WANG ; Yin FENG ; Xiangdong KONG
Chinese Journal of Perinatal Medicine 2025;28(2):105-112
Objective:To investigate the indications for prenatal diagnosis using copy number variation-sequencing (CNV-seq) and the abnormalities detected by the method.Methods:This retrospective analysis involved 17 994 singleton pregnant women who underwent prenatal CNV-seq at the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2022. These cases were divided into five groups based on the following indications for CNV-seq: abnormal fetal ultrasound findings, high-risk results indicated by non-invasive prenatal testing (NIPT) or Down's syndrome serological screening (Down's screening), adverse pregnancy history, and advanced maternal age. The proportions of cases with the indications for prenatal CNV-seq, the detection rates of abnormalities (numerical abnormalities of chromosomes, pathogenic/likely pathogenic CNV in structural abnormalities) in the five groups, and the distribution of these abnormalities were analyzed. Statistical analysis was performed using Chi-square test. Results:Among the 17 994 pregnant women, the women with abnormal fetal ultrasound findings, high-risk NIPT results, high-risk Down's screening results, adverse pregnancy history, and advanced maternal age accounted for 32.65% (5 875/17 994), 11.90% (2 142/17 994), 31.62% (5 690/17 994), 11.70% (2 105/17 994), and 12.13% (2 182/17 994), respectively. The detection rates of abnormalities in the five groups were 10.60% (623/5 875), 34.64% (742/2 142), 4.69% (267/5 690), 2.99% (63/2 105), and 3.67% (80/2 182), respectively. The overall detection rate of abnormalities was 9.86% (1 775/17 994). The cases with numerical abnormalities of chromosomes accounted for 68.79% (1 221/1 775), trisomy 21 was predominant (49.30%, 602/1 221). Chromosomal structural abnormalities were detected in 31.21% (554/1 775) of the cases with abnormalities, with 57.76% (320/554) harboring pathogenic CNVs and 42.24% (234/554) harboring likely pathogenic CNVs. The detection rate of chromosomal numerical abnormalities was higher than that of structural abnormalities in the abnormal fetal ultrasound group, NIPT high-risk group, and advanced maternal age group [6.81% (400/5 875) vs. 3.80% (223/5 875), χ2=53.10; 27.96% (599/2 142) vs. 6.68% (143/2 142), χ2=338.40; 2.43% (53/2 182) vs. 1.24% (27/2 182), χ2=8.61; all P<0.01]. A total of 416 microdeletions and 255 microduplications were detected in the 554 cases. The top three regions with the highest frequencies in microdeletions were Xp22.31 (12.74%, 53/416), 22q11.21 (7.93%, 33/416), and 17q12 (5.77%, 24/416); in microduplications, they were 22q11.21 (14.90%, 38/255), 17q12 (3.53%, 9/255), and 7q11.23 (3.53%, 9/255). Conclusions:Abnormal fetal ultrasound findings accounted for the highest proportion of prenatal diagnostic indications. The overall detection rate of abnormalities by CNV-seq is relatively high, especially in those with high-risk NIPT results as an indication for prenatal diagnosis. Among the chromosomal structural abnormalities detected in this study, the frequencies of Xp22.31 microdeletion and 22q11.21 microduplication are higher.

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