1.Research Tackling Paradigm and Technological Layout Strategies Based on Erectile Dysfunction, A Clinical Dominant Disease of Traditional Chinese Medicine
Qi ZHAO ; Yun CHEN ; Baoxing LIU ; Xuejun SHANG ; Fei SUN ; Xiaozhi ZHAO ; Zhigang WU ; Chao SUN ; Peihai ZHANG ; Wanjun CHENG ; Xing ZHOU ; Zhan QIN ; Yufeng PAN ; Weiwei TAO ; Jianhuai CHEN ; Mei MO ; Xiaoxiao ZHANG ; Xing ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):291-299
To thoroughly implement the strategic deployment outlined in the Opinions of the Central Committee of the Communist Party of China and the State Council on Promoting the Inheritance and Innovative Development of Traditional Chinese Medicine regarding research on dominant diseases of traditional Chinese medicine and to uphold the development philosophy of equal emphasis on traditional Chinese medicine and western medicine,the China Association of Chinese Medicine has fully played a leading academic role by systematically organizing and conducting a series of academic youth salons on clinical dominant diseases of traditional Chinese medicine. On September 13,2024,the 36th Youth Salon on Clinical Dominant Diseases was successfully held in Nanjing,focusing on the advantages of traditional Chinese medicine and the integrative traditional Chinese medicine and western medicine in the diagnosis and treatment of erectile dysfunction (ED). The conference brought together leading experts from traditional Chinese medicine,western medicine,and interdisciplinary fields,facilitating in-depth multidisciplinary discussions that led to key consensus on optimizing traditional Chinese medicine treatment protocols for ED,researching and developing new drugs of traditional Chinese medicine,and advancing interdisciplinary development in traditional Chinese medicine. This salon systematically sorted out the clinical strengths and distinctive features of traditional Chinese medicine in the diagnosis and treatment of ED. Based on current research foundations and clinical needs,it identified key directions for future scientific layout and scientific research tackling: (1) Standardization of syndrome differentiation system of traditional Chinese medicine for ED. (2) Optimization and standardization of intervention methods of integrated traditional Chinese medicine and western medicine. (3) High-quality clinical research guided by evidence-based medicine. (4) In-depth analysis of the pharmacological mechanisms of traditional Chinese medicine in the treatment of ED. (5) Clinical translation and application promotion of new drugs of traditional Chinese medicine. (6) Interdisciplinary integration and innovation in traditional Chinese medicine. For each research direction,key focus areas,expected objectives,and clinical value were further refined,along with the establishment of a scientifically sound priority funding level evaluation system. Therefore,building on the series of salons on the ED-focused dominant diseases of traditional Chinese medicine,this paper provides standardized guidance for clinical practice of traditional Chinese medicine in ED management,effectively contributing to the high-quality development of traditional Chinese medicine. It serves as a valuable reference for national scientific and technological strategic layout, research and development decision-making in new drugs of traditional Chinese medicine,research topic planning,and clinical guideline formulation.
2.Drinking water disinfection by-products in Wuhan urban area for 2023-2024
Qin WANG ; Yixuan WANG ; Junling JUNLING ; Feng PAN
Journal of Public Health and Preventive Medicine 2026;37(2):128-131
Objective To monitor the concentrations of six disinfection byproducts including trichloromethane,dibromochloromethane,bromodichloromethane, tribromomethane, dichloroacetic acid and trichloroacetic acid in drinking water in the main urban area of Wuhan, and to assess the potential health risks. Methods A total of 373 samples were collected from the central urban area during 2023 to 2024. The concentrations of the substances were tested according to the national Standard Examination Methods for Drinking Water. The detection rates of the six disinfection byproducts were statistically analyzed, and the concentration differences of the six disinfection byproducts in different time periods and different types of water samples were compared. The health risk assessment model recommended by the United States Environmental Protection Agency was used for risk assessment. Results Trichloromethane was the most common substance found in drinking water, followed by dichlorobromomethane, chlorodibromomethane, trichloroacetic acid, tribromomethane, and finally dichloroacetic acid. The concentration of dichlorobromomethane in treated water was higher than that in tap water, while the concentration of dichloroacetic acid was lower than the tap water, both with significant differences. The concentrations of the six chlorination disinfection by-products in the dry season were all significantly higher than those in the wet season. The carcinogenic risks of the disinfection byproducts were trichloroacetic acid > dichloroacetic acid > dichlorobromomethane > chlorodibromomethane > tribromomethane, and the non-carcinogenic risks were trichloromethane > trichloroacetic acid > dichlorobromomethane > chlorodibromomethane > dichloroacetic acid > tribromomethane. Conclusion Trichloroacetic acid is the substance with the highest carcinogenic risk, while trichloromethane is the non-carcinogenic substance with the highest risk, which requires special attention.
3.Transverse dimensional changes following Twin-Block and slow maxillary expansion therapy in adolescents with Angle Class Ⅱ division 1 malocclusion: a cone-beam computed tomography study
PAN Yinti ; QIN Changtao ; ZHENG Yi ; GUO Anjie ; SUN Xin ; CHEN Zhixing ; MO Shuixue
Journal of Prevention and Treatment for Stomatological Diseases 2026;34(5):471-482
Objective:
To investigate the effects of a Twin-Block appliance combined with slow maxillary expansion (SME) on transverse dental and skeletal parameters in adolescent patients with Angle Class Ⅱ division 1 malocclusion, and to provide a reference for clinical orthodontic practice.
Methods:
This retrospective study was approved by the Institutional Ethics Committee. A total of 21 adolescents with Class Ⅱ division 1 malocclusion who underwent two-phase treatment with a Twin-Block appliance combined with SME at the Department of Orthodontics, College & Hospital of Stomatology, Guangxi Medical University, in 2021 to 2023 were consecutively enrolled. In the first phase, a functional appliance was used to coordinate the skeletal relationship between the maxilla and mandible by leveraging growth potential. In the second phase, a fixed appliance was employed for fine adjustments of the dental arches based on the specific condition. Cone-beam computed tomography (CBCT) scans were obtained before treatment (T0) and after the first phase of functional correction (T1). Transverse measurements at the first molar region, including molar buccolingual inclination, dental arch width, and basal bone width, were performed using Dolphin 3D Imaging software. Changes between T0 and T1 were statistically analyzed.
Results:
After the first phase of treatment, the left and right maxillary first molars showed a significant increase in buccal inclination by 5.47° ± 1.38° and 5.35° ± 1.61°, respectively (P<0.001). The arch width in the maxillary first molar region also increased by (2.68 ± 1.14) mm, and the basal bone width increased by (1.14 ± 1.24) mm (all P<0.001). The proportion of skeletal expansion accounted for an average of 42.86%, while dental expansion accounted for 57.14%. No statistically significant changes were observed in any mandibular transverse measurements (all P>0.05).
Conclusion
In adolescent patients with Angle Class Ⅱ division 1 malocclusion accompanied by maxillary transverse deficiency, Twin-Block appliance combined with SME can effectively expand maxillary dental arch and basal bone width while improving sagittal relationship, thereby correcting transverse discrepancy. The maxillary width changes were predominantly dental.
4.Engineered Bacteriophages for The Treatment of Multidrug-resistant Bacterial Infections
Yu-Ying CHEN ; Chun-Mei HUANG ; Jin-Zhi PAN ; De-Liang LIU ; Yang ZHOU ; Gui-Qin DAI ; Peng-Fei ZHAO ; Hong-Zhou LU ; Ming-Bin ZHENG
Progress in Biochemistry and Biophysics 2026;53(6):1581-1596
Multidrug-resistant (MDR) bacterial infections have emerged as a serious challenge of global public health crisis. The overuse and misuse of conventional antibiotics have dramatically accelerated the emergence, evolution and worldwide spread of drug-resistant bacterial strains, necessitating urgent exploration of novel antibacterial strategies. Bacteriophages serve as natural bacterial predators offering distinct advantages including high host specificity, autonomous self-replication capabilities and cost-effective large-scale production. However, wild-type phages present significant clinical limitations due to their narrow host ranges, susceptibility to rapid immune clearance and poor penetration of bacterial biofilms, which severely restrict their therapeutic applications. The convergence of synthetic biology, nanotechnology and advanced gene editing technologies has accelerated the development of engineered bacteriophage platforms, providing programmable, scalable and clinically translatable pathways to overcome these inherent biological constraints. Here, we systematically delineate four fundamental strategies for engineered bacteriophage development. Chemical modification utilizes reactive functional groups such as amino, carboxyl and thiol moieties on capsid proteins through esterification, amidation or click chemistry reactions to achieve precise drug conjugation and surface functionalization. In vivo editing encompasses ultraviolet or chemical mutagenesis for random mutation induction, homologous recombination for targeted genetic alterations, recombineering methodologies including electroporation-mediated bacteriophage recombination engineering, and CRISPR-Cas systems for precise genome editing to enable exact genetic reconstruction and host range reprogramming. In vitro synthesis leverages genome engineering platforms where intact phage genomes are transferred into yeast or host bacteria to facilitate highly efficient homologous recombination, enabling large DNA fragment assembly and cross-gene host range expansion without bacterial toxicity constraints. Directed evolution combines artificial selection through mutation library screening with rational design approaches involving chimeric receptor binding protein construction or site-specific mutagenesis, effectively balancing the discovery of unknown adaptive pathways with targeted host specificity modification. Moreover, we comprehensively discuss therapeutic applications across diverse clinical scenarios. Engineered bacteriophage effectively disrupt bacterial biofilms through sophisticated functionalized delivery platforms including nanozyme-conjugated phages, phage-liposome nanoconjugates and bio-responsive hydrogels, demonstrating significantly enhanced bactericidal efficiency compared to unmodified free phages. These bioengineered vectors attenuate bacterial virulence and resensitize pathogens to antibiotics by delivering CRISPR-Cas systems or base editors to disrupt critical virulence factors such as pili, capsule synthesis machineries and quorum sensing systems, or by inactivating antibiotic resistance determinants including beta-lactamase genes. As an intelligent nanomedicine delivery platform, engineered bacteriophage enable precise pathogen elimination an through photocatalytic reactive oxygen species generation, immunomodulatory interventions, or controlled release of antibacterial drugs. Furthermore, oral administration of engineered bacteriophage facilitates microbiota modulation, which selectively eliminate intestinal pathogens while preserve beneficial commensal microbiota, thereby restoring microbial community balance and preventing complications associated with dysbiosis. Finally, we critically analyze persistent challenges including host strain matching complexity, evolution of bacterial resistance mechanisms, pharmacokinetic optimization requirements, optimal administration route selection, large-scale production quality control standards and clinical dosing determination protocols. Through multidisciplinary integration of synthetic biology, infectious disease medicine and immunology, future translational medicine studies of bacteriophage should establish comprehensive technical platforms encompassing rapid phage screening, intelligent rational design, rigorous in vivo evaluation and standardized clinical validation processes, ultimately advancing engineered bacteriophage from laboratory innovations to clinically approved therapeutics for effectively combating MDR bacterial infections.
5.Long-chain Fatty Acids in Atherosclerosis: Focus on Metabolites and Mechanisms
Jin-Qian PAN ; Wang LIU ; Zhao-Bing LI ; Shi-Yang LIU ; Qin-Yi ZHOU
Progress in Biochemistry and Biophysics 2026;53(7):1826-1848
Atherosclerosis (AS) remains the core pathological basis underlying the high incidence and high rates of mortality and disability associated with cardiovascular disease (CVD) worldwide. Its essence is not merely lipid deposition, but rather an immune-mediated disease of the vascular wall characterized by an interplay of lipid metabolism disorders and chronic inflammation, with damage to vascular endothelial cells serving as the initiating event. As the disease progresses, it involves complex synergistic interactions among various cellular components, including endothelial cells, macrophages, and inflammatory cells, ultimately leading to plaque formation, instability, and even fatal thrombotic events. In recent years, the central driving role of lipid metabolic reprogramming in the progression of AS has garnered increasing attention from the scientific community. Among the vast array of lipid molecules, long-chain fatty acids (LCFAs) have become a primary focus of research due to their exceptional physiological functions. Traditional views have primarily emphasized the basic physiological functions of LCFAs: serving as highly efficient energy substrates through mitochondrial β-oxidation and acting as key structural components of cellular phospholipid membranes. However, emerging evidence clearly indicates that the functions of LCFAs extend far beyond those of mere metabolic fuel. They also act as potent bioactive signaling molecules, playing an indispensable multidimensional role in the pathogenesis of AS. Equally noteworthy and representing a paradigm shift in cardiovascular research is the emerging theory of the “gut-heart axis”. This theoretical framework views the human gut microbiota—comprising trillions of microorganisms—as a critical and metabolically active “bioreactor”. A wealth of clinical and multi-cohort epidemiological studies have conclusively demonstrated that imbalances in the composition and function of the gut microbiota are highly correlated with the clinical risk and severity of AS. Within this axis, the gut microbiota serves as the primary processing hub for dietary lipids. It actively participates in the digestion and biochemical remodeling of LCFAs, thereby altering their saturation and chemical structure and generating a wide variety of gut microbial metabolites. The effects of these gut-derived lipid metabolites extend far beyond the local intestinal microenvironment. Upon entering the bloodstream, these circulating microbiota metabolites act as endocrine signals. Given the extreme complexity of the underlying mechanisms, a comprehensive elucidation of the synergistic and bidirectional interactions between LCFAs and the gut microbiota in vascular pathology is particularly urgent. Therefore, this article aims to provide a systematic review of the multidimensional regulatory mechanisms of LCFAs and their associated gut microbiota metabolites in the onset, progression, and clinical manifestations of AS. By thoroughly exploring the interaction patterns within the “LCFAs-gut microbiota-AS” triad, this review seeks to fundamentally expand our understanding of the pathogenesis of CVDs. More importantly, translating these mechanistic insights into clinical practice holds tremendous promise. We hope to provide a solid theoretical foundation for the future development of novel AS prevention and treatment strategies based on non-traditional approaches. These include precision nutritional interventions (i.e., dietary lipid intake plans tailored to an individual’s unique microbiome profile) and targeted microbiome modulation therapies (such as next-generation probiotics, prebiotics, or specific metabolite supplements). Targeting the gut as a “reactor” to treat vascular wall lesions represents a promising direction for future cardiovascular medicine.
6.Construction and assessment of an intelligent hospital-wide bed management system under smart healthcare framework
Weijun CHEN ; Qin XU ; Ting HE ; You XIE ; Weibing PAN ; Haijing GUO
Modern Hospital 2025;25(11):1743-1747
Objective This study aims to evaluate the effectiveness of intelligent bed management model in integrating bed resources in a large comprehensive hospital.Methods Inpatient data from a tertiary hospital between January 2021 and De-cember 2024 were collected.An intelligent hospital-wide bed management platform was constructed to implement bed resource sharing mechanisms and establish a standardized bed reservation grading system.The implementation effect of the system was e-valuated from the perspective of bed occupancy rate,average length of stay,and patient satisfaction.Results After implementa-tion,bed occupancy rates in key monitored departments moved into a reasonable range:Rehabilitation Medicine Department fell from 113.18%to 101.48%(t=4.26,P<0.01),while Neurology Department increased from 88.18%to 96.20%(t=3.85,P<0.01).Annual inpatient admissions increased from 83,931 to 103,852(x2=156.82,P<0.001),and average length of stay shortened from 7.15 days to 6.21 days(t=4.73,P<0.01).The admission waiting time was cut by 72.7 hours(-43.1%),and satisfaction with bed allocation rationality improved by 11.2 points(t=5.94,P<0.001).Staff time spent on bed-assignment fell by 42 minutes per shift(t=8.92,P<0.001),and cross-department transfers increased by 378 episodes per month(x2=145.26,P<0.001).Conclusion The intelligent bed management model can effectively improve hospital bed utili-zation efficiency,enhance healthcare service quality,reduce staff workload,and merits wider application in similar hospitals.
7.Research on Resource Allocation Efficiency of Urban Public Hospitals in Guangdong Province Based on DEA-Malmquist Analysis
Guozhu CHEN ; Weifeng LIU ; Yuliang ZHANG ; Qin LI ; Hongwei PAN ; Liai ZOU
Chinese Health Economics 2025;44(6):62-68
Objective:To analyze the comprehensive efficiency of resource allocation in urban public hospitals in 21cities of Guangdong Province from 2019 to 2023,aiming at providing empirical evidence for future medical policy makers and hospital managers in resource allocation and management.Methods:Using Data Envelopment Analysis and Malmquist index to evaluate the efficiency of health resource allocation in public hospitals in Guangdong.Results:From 2019 to 2023,the comprehensive efficiency of urban public hospitals in Guangdong Province was mildly ineffective,only 7 cities showing relative effectiveness,and there were significant regional differences in efficiency.Malmquist index analysis showed that the total factor productivity of health resource allocation in urban public hospitals in the province decreased from 2019 to 2020 and kept increasing from 2020 to 2023,mainly due to the increasing of the technological progress index and the scale efficiency index.Horizontally,the total factor productivity of 9 cities in the province has increased,while the total factor productivity of 12 cities has decreased,with significant regional differences.The input-output redundancy analysis shows that only 6 cities have no input-output redundancy.Conclusion:The overall efficiency of resource allocation in urban public hospitals in Guangdong Province from 2019 to 2023 is relatively low,with significant regional differences.In the future,it is necessary to coordinate and plan resource allocation,focus on refined management,strengthen talent training and technological improvement,improve the operational efficiency of existing resources,and promote high-quality development of hospitals.
8.Clinical characteristics of obstructive sleep apnea in children with Prader-Willi syndrome
Kaiping WU ; Qinghua LU ; Ailiang LIU ; Yuejie ZHENG ; Zhe SU ; Rongfei ZHENG ; Hongguang PAN ; Qin YANG
Chinese Pediatric Emergency Medicine 2025;32(8):591-596
Objective:To analyze the characteristics of obstructive sleep apnea(OSA)in children with Prader-Willi syndrome (PWS),and to improve the understanding of OSA during rapid eye movement sleep.Methods:The clinical data of 13 children with PWS aged 2-14 years admitted to Shenzhen Children's Hospital from June 2017 to June 2024 were retrospectively collected as the PWS group,and 12 children with snoring caused by adenoids,tonsil hypertrophy and/or obesity were selected as the control group.The gender,age,body mass index (BMI),obstructive apnea index (OAI),oxygen desaturation index (ODI),obstructive sleep apnea hypopnea index (OAHI),rapid eye movement period OAHI(OAHIrem),non-rapid eye movement period OAHI(OAHInrem) and OAHIrem/total sleep period OAHI ratio were compared between the two groups.Multivariate linear regression was used to assess the association between PWS and OAHIrem.Results:Among the 13 children in PWS group,there were 7 males and 6 females,with an average age of (7.63±4.05) years and an average BMI of (23.06±6.12) kg/m2.Among the 12 children in control group,there were 10 males and 2 females,with an average age of (7.28±3.92) years and an average BMI of (22.41±5.68) kg/m2.There were no statistically significant differences in age,gender,and BMI between the two groups ( P>0.05).All 13 children (100%) with PWS had OSA,with 8 cases (61.53%) of mild OSA and 5 cases (38.46%) of moderate to severe OSA.OAI and ODI in PWS group were significantly higher than those in control group ( P<0.05).OAHI and OAHInrem in PWS group were higher than those in control group,but the difference was not statistically significant ( P>0.05).OAHIrem and OAHIrem/ total sleep OAHI ratio were significantly higher than those in the control group,with statistical significance ( P<0.05).Multivariate linear regression analysis showed that PWS was significantly correlated with OAHIrem/ total sleep OAH ratio (square root) ( P=0.008). Conclusion:Children with PWS have a high incidence of OSA,with a high proportion of moderate to severe OSA.They are prone to OSA with hypoxemia during rapid eye movement sleep.It is recommended that respiratory monitoring of children with PWS during rapid eye movement sleep should be strengthened,and individualized treatment plan should be formulated according to the type and severity of OSA.
9.Establishment of a LC-MS/MS method for detecting gamma-aminobutyric acid in plasma and its clinical application
Jia-qian QIN ; Lei CAO ; Ying-fei PENG ; Fang-jun CHEN ; Bai-shen PAN ; Bei-li WANG ; Wei GUO
Fudan University Journal of Medical Sciences 2025;52(5):708-716
Objective To establish a stable liquid chromatography-tandem mass spectrometry(LC-MS/MS)method for detecting gamma-aminobutyric acid(GABA)in plasma,and to evaluate the value of GABA detection in the diagnosis of sleep disorders.Methods GABA was detected using a UPLC Xevo TQs system.The method was pre-validated and its performance was verified to establish a reference range for healthy individuals.The difference in plasma GABA levels between apparently healthy individuals and patients with sleep disorders was compared.Results We employed deuterated compounds as isotopic internal standards and utilized an Amide chromatographic column for separation.The mobile phase was 0.050%formic acid in water and 90%acetonitrile in water containing 0.175%formic acid and 5 mmol/L ammonium acetate with gradient elution in the column temperature of 35℃.The linear range for the detection of GABA by LC-MS/MS was 0.05-10.00 μmol/L,with a lower limit of quantification of 0.02 μmol/L,the inter-day CV<3.00%and intra assay CV<4.00%,respectively,and the recovery rate was 101.06%-109.02%.The reference ranges for plasma GABA were established by analyzing 300 healthy controls stratified by age:18-34 years(0.08-0.15 μmol/L),35-49 years(0.10-0.20 μmol/L),and≥50 years(0.12-0.23 μmol/L).Then plasma GABA was used as a biomarker for auxiliary diagnosis of sleep disorders in analyzing 221 patients and 300 healthy controls,which revealed that AUC values were 0.510(P=0.850),0.686(P=0.002),and 0.890(P<0.001)in the groups of 18-34 years,35-49 years,and≥50 years,respectively,with optimal cut-off values of 0.09,0.10 and 0.11 μmol/L.Conclusion A reliable LC-MS/MS method for detecting GABA has been established,which can detect plasma GABA levels sensitively and accurately and can be used in assisting the clinical diagnosis of sleep disorders.
10.Genetic analysis of fetuses with abnormal nasal bone development in early pregnancy
Dongbing HUANG ; Linlin WANG ; Dahua MENG ; Shuyin TAN ; Guican QIN ; Wei LI ; Pingshan PAN
Chinese Journal of Perinatal Medicine 2025;28(2):119-125
Objective:To investigate the genetic causes of fetuses with abnormal nasal bone development in early pregnancy.Methods:A retrospective study was conducted which involved 422 cases of singleton pregnancies with nasal bone development abnormalities indicated by ultrasound screening at 11 to 13 weeks and 6 days of gestation, who underwent chorionic villus sampling for prenatal diagnosis at the Prenatal Diagnosis and Genetic Center, Maternity & Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to May 2023. All cases underwent chromosomal karyotype analysis and single nucleotide polymorphism array (SNP-array) analysis. Based on whether other abnormal ultrasound indicators were present, the cases were divided into isolated (175 cases) and non-isolated groups (247 cases). The results of invasive prenatal diagnosis, distribution of chromosomal abnormalities, detection of copy number variation (CNV) in fetuses with nasal bone development abnormalities, the relationship between maternal age, number of abnormal ultrasound indicators and chromosomal abnormalities, and pregnancy outcomes were analyzed. Statistical analysis was performed using the Chi-square test (continuity correction Chi-square test or Fisher's exact test). Results:(1) Among the 422 cases, 262 cases (62.1%) showed no abnormalities with both detection techniques; 160 cases had abnormalities, including 145 cases (34.4%) had consistent abnormal results and types of abnormalies with the two techniques; two cases (0.5%) had chromosomal translocations detected by karyotype analysis but not by SNP-array analysis; 13 cases (3.1%) had no abnormalities detected by karyotype analysis but had abnormal SNP-array results. This study's overall detection rate of chromosomal abnormalities was 37.9% (160/422), with an additional detection rate of 4.7% (13/275) using SNP-array technology. (2) Among the 160 cases of chromosomal abnormalities, there were 140 cases of aneuploidy, 18 cases of CNV, and two cases of chromosomal translocation. The overall detection rate of chromosomal abnormalities and the detection of aneuploidy, and pathogenic CNV in the non-isolated group was higher than that in the isolated group [74.3% (130/175) vs. 12.1% (30/247), χ2=168.02; 68.0% (119/175) vs. 8.5% (21/247), χ2=163.56; 5.7% (10/175) vs. 0.8% (2/247), χ2=4.74; all P<0.05]. Eighteen cases of CNV were detected using SNP-array technology, including eight cases in the isolated group and ten cases in the non-isolated group. (3) The age of the 422 pregnant women was (33.1±5.4) years. In both isolated and non-isolated groups, the detection rate of chromosomal abnormalities was higher in women of advanced age (expected delivery age ≥35 years) than those not [isolated group: 20.0% (17/85) vs. 8.6% (14/162), χ2=6.55; non-isolated group: 82.1% (69/84) vs. 65.9% (60/91), χ2=5.92; both P=0.010]; regardless of maternal age, the detection rate of chromosomal abnormalities in the non-isolated group was significantly higher than that in the isolated group ( χ2 were 65.28 and 92.42, respectively, both P<0.001). (4) In the non-isolated group, the detection rates of chromosomal abnormalities were 69.0% (78/113) and 83.9% (52/62) when nasal bone abnormalities were combined with one or more other abnormal ultrasound indicators, respectively. When combined with increased nuchal translucency, the detection rate of fetal chromosomal abnormalities was 73.2% (71/97), higher than the detection rate when combined with other single indicators (7/16) ( χ2=5.57, P=0.020). (5) Among the 262 cases with negative karyotype analysis and SNP-array results, 241 cases (92.0%) resulted in live births, with a gestational age at delivery of 39 weeks (32-41 weeks); 12 cases (4.6%) resulted in induced labor, five cases (1.9%) resulted in miscarriage, and four cases (1.5%) were lost to follow-up. The live birth rate in the isolated group was higher than that in the non-isolated group [86.9% (213/245) vs. 20.2% (35/173), χ2=187.00, P<0.001]. Conclusions:Fetuses with nasal bone developmental abnormalities in early pregnancy have a higher detection rate of chromosomal abnormalities and CNV. Invasive prenatal diagnosis is recommended for cases of nasal bone developmental abnormalities in early pregnancy, whether isolated or non-isolated. When combined with other abnormal indicators, the genetic etiology of the fetus is more complex, and detailed genetic counseling should be provided to the patient.


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