1.Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.
Yunyun LIU ; Jing WANG ; Ling WANG ; Lin CHEN ; Dan XIE ; Li WANG ; Sha LIU ; Jianlong LIU ; Ting BAI ; Xiaosha JING ; Cechuan DENG ; Tianyu XIA ; Jing CHENG ; Lingling XING ; Xiang WEI ; Yuan LUO ; Quanfang ZHOU ; Ling LIU ; Qian ZHU ; Hongqian LIU
Chinese Medical Journal 2025;138(4):499-501
2.Reduction in RNF125-mediated RIG-I ubiquitination and degradation promotes renal inflammation and fibrosis progression.
Lu-Xin LI ; Ting-Ting JI ; Li LU ; Xiao-Ying LI ; Li-Min LU ; Shou-Jun BAI
Acta Physiologica Sinica 2025;77(3):385-394
Persistent inflammation plays a pivotal role in the initiation and progression of renal fibrosis. Activation of the pattern recognition receptor retinoic acid-inducible gene-I (RIG-I) is implicated in the initiation of inflammation. This study aimed to investigate the upstream mechanisms that regulates the activation of RIG-I and its downstream signaling pathway. Eight-week-old male C57BL/6 mice were used to establish unilateral ureteral obstruction (UUO)-induced renal fibrosis model, and the renal tissue samples were collected 14 days later for analysis. Transforming growth factor-β (TGF-β)-treated mouse renal tubular epithelial cells were used in in vitro studies. The results demonstrated that, compared to the control group, UUO kidney exhibited significant fibrosis, which was accompanied by the increases of RIG-I, p-NF-κB p65 and inflammatory cytokines, such as TNF-α and IL-1β. Additionally, the protein level of the E3 ubiquitin ligase RNF125 was significantly downregulated and predominantly localized in the renal tubular epithelial cells. Similarly, the treatment of tubular cells with TGF-β induced the increases in RIG-I, p-NF-κB p65 and inflammatory cytokines while decreasing RNF125. Co-immunoprecipitation (Co-IP) assays confirmed that RNF125 was able to interact with RIG-I. Overexpression of RNF125 promoted the ubiquitination of RIG-I, and accelerated its degradation via the ubiquitin-proteasome pathway. Overexpression of RNF125 in UUO kidneys and in vitro tubular cells effectively mitigated the inflammatory response and renal fibrosis. In summary, our results demonstrated that the decrease in RNF125 under pathological conditions led to reduction in RIG-I ubiquitination and degradation, activation of the downstream NF-κB signaling pathway and increase in inflammatory cytokine production, which promoted the progression of renal fibrosis.
Animals
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Fibrosis
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Male
;
Ubiquitination
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Mice
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Mice, Inbred C57BL
;
DEAD Box Protein 58
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Ubiquitin-Protein Ligases/physiology*
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Inflammation/metabolism*
;
Ureteral Obstruction/complications*
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Kidney/pathology*
;
Signal Transduction
;
Transforming Growth Factor beta/pharmacology*
3.Scientific analysis and usage reassessment of suspected medicinal cinnabar unearthed from Mawangdui Tomb No.3 of the Han Dynasty.
Ning-Ning XU ; Ting-Yan REN ; Ming-Jie LI ; Pan XIAO ; Guo-Hui SHEN ; Ji-Qing BAI ; Qi LIU
China Journal of Chinese Materia Medica 2025;50(11):2915-2923
Cinnabar(HgS) was widely used in ancient times for medicinal purposes, religious rituals, and pigments. A group of bright red powdery clumps was excavated from Mawangdui Tomb No.3 of the Han Dynasty. Early studies considered the clumps as evidence of cinnabar's medicinal use during the Qin-Han period. This study employed a range of archaeometric techniques, including extended-depth-of-field stereo imaging, micro-CT, scanning electron microscopy-energy dispersive spectroscopy, Raman spectroscopy, and Fourier transform infrared spectrometry FTIR, to systematically analyze the material composition and structural characteristics of these remains. The results revealed that the cinnabar particles were granular, finely ground, and tightly bound to silk matrix, with no detectable excipients typically associated with medicinal formulations. Micro-CT imaging indicated a well-preserved textile structure, with clear signs of sedimentary accumulation and mechanical damage. Based on historical and archaeological studies, this study suggested that these remains were more likely degraded accumulations of cinnabar-colored silk textiles rather than medicinal cinnabar. By clarifying the diversity of ancient cinnabar applications and preservation states, this study provides new insights for the archaeological identification of mineral medicinal materials and contributes to the standardized study of Chinese medicinal materials and understanding of the historical use of cinnabar.
History, Ancient
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China
;
Humans
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Medicine, Chinese Traditional/history*
;
Archaeology
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Drugs, Chinese Herbal/history*
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Spectroscopy, Fourier Transform Infrared
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Spectrum Analysis, Raman
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Mercury Compounds
4.Characteristics of immune response induced by mucosal immunization with recombinant adenovirus of Mycobacterium tuberculosis phosphodiesterase.
Ting DAI ; Yanzhi LU ; Ruihua ZHAO ; Huanhuan NING ; Jian KANG ; Leran HAO ; Jialing LI ; Yuxiao CHANG ; Yinlan BAI
Chinese Journal of Cellular and Molecular Immunology 2025;41(1):1-8
Objective The prevalence of drug-resistant Mycobacterium tuberculosis (Mtb) strains is exacerbating the global burden of tuberculosis (TB), highlighting the urgent need for new treatment strategies for TB. Methods The recombinant adenovirus vaccine expressing cyclic di-adenosine monophosphate (c-di-AMP) phosphodiesterase B (CnpB) (rAd-CnpB), was administered to normal mice via mucosal immunization, either alone or in combination with drug therapy, to treat Mtb respiratory infections in mice.Enzyme-linked immunosorbent assay (ELISA) was used to detect the levels of antibodies in serum and bronchoalveolar lavage fluid (BALF). Real-time quantitative PCR was performed to assess the transcription levels of cytokines interferon γ(IFN-γ) and interleukin 10(IL-10) in mouse lungs. Flow cytometry was used to determine the proportions of CD4+ and CD8+ T cell subsets in the lungs and spleens. ELISA was employed to measure the levels of cytokines IFN-γ, IL-2, IL-10, inflammatory factors IL-6, and tumor necrosis factor α (TNF-α) secreted by spleen cells following antigen stimulation. The bacteria loads in the lungs and spleens of Mtb-infected mice were enumerated by plate counting methods. Resluts Intranasal immunization with rAd-CnpB induced high titers of IgG in mouse serum and the production of IgG and IgA in BALF, along with alterations in T lymphocyte subsets in the lungs and spleens. Administration of rAd-CnpB, either alone or in combination with drugs, to Mtb-infected mice significantly increased serum IgG levels as well as IgA and IgG levels in BALF. rAd-CnpB immunization promoted the secretion of CnpB-specific cytokines and inflammatory factors by splenocytes in Mtb-infected mice. However, rAd-CnpB immunotherapy, either alone or combined with drugs, did not significantly affect the bacterial loads in the lungs and spleens of mice with Mtb respiratory infections. Conclusion Mucosal immunization with rAd-CnpB induced significant mucosal, humoral and cellular immune responses in mice, and significantly enhanced CnpB-specific cellular immune responses in Mtb-infected mice.
Animals
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Adenoviridae/immunology*
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Mycobacterium tuberculosis/genetics*
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Mice
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Female
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Phosphoric Diester Hydrolases/genetics*
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Tuberculosis Vaccines/administration & dosage*
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Tuberculosis/prevention & control*
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Mice, Inbred BALB C
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Cytokines
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Lung/microbiology*
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Immunization
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Bronchoalveolar Lavage Fluid/immunology*
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Immunity, Mucosal
5.Research of injury mapping relationship of lumbar spine in reclined occupants between anthropomorphic test devices and human body model.
Yu LIU ; Jing FEI ; Xin-Ming WAN ; Pei-Feng WANG ; Zhen LI ; Xiao-Ting YANG ; Lin-Wei ZHANG ; Zhong-Hao BAI
Chinese Journal of Traumatology 2025;28(2):130-137
PURPOSE:
To judge the injury mode and injury severity of the real human body through the measured values of anthropomorphic test devices (ATD) injury indices, the mapping relationship of lumbar injury between ATD and human body model (HBM) was explored.
METHODS:
Through the ATD model and HBM simulation, the mapping relationship of lumbar injury between the 2 subjects was explored. The sled environment consisted of a semi-rigid seat with an adjustable seatback angle and a 3-point seat belt system with a seatback-mounted D-ring. Three seatback recline states of 25°, 45°, and 65° were designed, and the seat pan angle was maintained at 15°. A 23 g, 47 km/h pulse was used. The validity of the finite element model of the sled was verified by the comparison of ATD simulation and test results. ATD model was the test device for human occupant restraint for autonomous vehicles (THOR-AV) dummy model and HBM was the total human model for safety (THUMS) v6.1. The posture of the 2 models was adjusted to adapt to the 3 seat states. The lumbar response of THOR-AV and the mechanical and biomechanical data on L1 - L5 vertebrae of THUMS were output, and the response relationship between THOR-AV and THUMS was descriptive statistically analyzed.
RESULTS:
Both THOR-AV and THUMS were submarined in the 65° seatback angle case. With the change of seatback angle, the lumbar spine axial compression force (Fz) of THOR-AV and THUMS changed in the similar trend. The maximum Fz ratio of THOR-AV to THUMS at 25° and 45° seatback angle cases were 1.6 and 1.7. The flexion moment (My) and the time when the maximum My occurred in the 2 subjects were very different. In particular, the form of moment experienced by the L1 - L5 vertebrae of THUMS also changed. The changing trend of My measured by THOR-AV over time can reflect the changing trend of maximum stress of L1 and L2 of THUMS.
CONCLUSION
The Fz of ATD and HBM presents a certain proportional relationship, and there is a mapping relationship between the 2 subjects on Fz. The mapping function can be further clarified by applying more pulses and adopting more seatback angles. It is difficult to map My directly because they are very different in ATD and HBM. The My of ATD and stress of HBM lumbar showed a similar change trend over time, and there may be a hidden mapping relationship.
Humans
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Lumbar Vertebrae/injuries*
;
Finite Element Analysis
;
Biomechanical Phenomena
;
Manikins
;
Spinal Injuries/physiopathology*
6.Brief Discussion on the General Requirements of Quality Management System of In Vitro Diagnostic Reagents Developed by Medical Institutions.
Chinese Journal of Medical Instrumentation 2025;49(2):219-223
On March 19, 2021, the National Medical Products Administration(NMPA) issued the Regulations on the Supervision and Administration of Medical Devices (Order No. 739 of the State Council of the People's Republic of China), which clearly stipulated in Article 53 the basic definition and scope of use of in vitro diagnostic reagents developed by medical institutions. It also pointed out that the relevant administrative measures shall be formulated by the Drug Regulatory Department of the State Council in conjunction with the Health Department of the State Council. This initiative marks the re-incorporation of in vitro diagnostic reagents developed by medical institutions into China's regulatory system. This study reviewed the development of regulatory policies for self-developed in vitro diagnostic reagents at home and abroad, combined with the Key Points of On-site Verification of Self-developed In Vitro Diagnostic Reagents in Shanghai Medical Institutions issued by the Shanghai Municipal Drug Administration, in conjunction with the Shanghai Municipal Health Commission, and the specific verification work of pre-record evaluation, and sorted out the general requirements for the quality management system of self-developed in vitro diagnostic reagents. The purpose is to provide some references for the further development of this pilot work and its nationwide promotion.
China
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Quality Control
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Indicators and Reagents/standards*
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Reagent Kits, Diagnostic/standards*
7.Mechanism of Huangqi Guizhi Wuwutang in Treatment of Sarcopenia Associated with Rheumatoid Arthritis by Improving Skeletal Muscle Homeostasis Through Regulation of Autophagy
Yakun WAN ; Yuan LIU ; Yuan QU ; Jingyu GUO ; Ting LIU ; Zhihui BAI ; Di ZHANG ; Ping JIANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(16):12-23
ObjectiveThis study aims to explore the mechanism of action of Huangqi Guizhi Wuwutang in treating rheumatoid arthritis (RA)-associated sarcopenia by regulating autophagy and improving skeletal muscle homeostasis based on network pharmacology,bioinformatics,machine learning,and animal experiments. MethodsActive ingredients and targets of Huangqi Guizhi Wuwutang were screened using the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP),PubChem,and SwissTargetPrediction databases. RA-related datasets were retrieved from the GEO database,and differential genes were screened. Sarcopenia-related targets were searched through GeneCards and the Comparative Toxicology Database (CTD),and autophagy-related gene sets were downloaded from the Human Autophagy Database (HADb). Their intersection was analyzed to identify autophagy-related therapeutic targets,followed by enrichment analysis. A protein-protein interaction (PPI) network was constructed using the STRING database,and key targets were selected using multiple methods. Machine learning was applied to predict models based on the expression profiles of intersecting targets,and nomogram models were constructed based on key targets. Molecular docking of the top four active ingredients with key targets was performed using AutoDockVina. A collagen-induced arthritis (CIA) rat model was established using bovine type Ⅱ collagen,with SD rats divided into groups including a blank group,a model group,and low-,medium-,and high-dose groups of Huangqi Guizhi Wuwutang (2.44,4.88,and 9.76 g·kg-1) and administered for five consecutive weeks. Joint scores and gastrocnemius muscle mass were recorded and analyzed after modeling. Hematoxylin and eosin (HE) staining and Masson's staining were used to observe pathological changes in muscle tissue. Immunofluorescence staining was applied to observe the protein expression levels of myosin heavy chain (MYHC) and insulin-like growth factor-1 (IGF-1) in skeletal muscle. Western blot was used to detect the protein expression levels of autophagy-related proteins ATG5,Beclin1,LC3B,muscle-specific proteins (MuRF1),MaFbx,and MYHC. Real-time quantitative reverse transcription PCR (Real-time PCR) was performed to measure the mRNA expression levels of ATG5,Beclin1,LC3B,MuRF1,MaFbx,and MYHC in muscle tissue. ResultsNetwork pharmacology revealed that Huangqi Guizhi Wuwutang shared 25 common targets with autophagy genes related to RA-associated sarcopenia. The PPI network and machine learning identified six key targets,which were primarily involved in autophagy and inflammatory pathways. Animal experiments showed that compared to the blank group,the model group had significantly higher joint scores (P<0.01) and lower gastrocnemius muscle index (P<0.01). HE staining indicated a significant reduction in the cross-sectional area of gastrocnemius muscle fibers,with notable inflammatory cell infiltration and muscle atrophy in the model group. Masson's staining revealed obvious collagen fiber proliferation and deposition,with significant muscle fibrosis in the model group. The protein and mRNA expression levels of ATG5,Beclin1,LC3B,MuRF1,and MaFbx were significantly increased (P<0.01),while the protein expression of MYHC and IGF1 was significantly downregulated (P<0.01). Compared with the model group,the high-dose group of Huangqi Guizhi Wuwutang showed significantly reduced protein and mRNA expression levels of ATG5,Beclin1,LC3B,MuRF1,and MaFbx (P<0.01) and increased protein expression levels of MYHC and IGF1 (P<0.01). The cross-sectional area of muscle fibers increased,and the muscle cell morphology approached normal. Moreover,pathological abnormalities in the gastrocnemius muscle were significantly improved,with reduced collagen fiber proliferation (P<0.01). ConclusionHuangqi Guizhi Wuwutang can mediate autophagy by regulating the expression of ATG5,Beclin1,LC3B,and IGF1,thereby reducing skeletal muscle catabolism and improving skeletal muscle homeostasis,which contributes to the treatment of RA-associated sarcopenia. The findings provide insight into the mechanisms underlying the effects of Huangqi Guizhi Wuwutang in the treatment of RA-related sarcopenia and offer a reference for its enhanced clinical application.
8.Analysis of the burden and trends of oral disorders among the elderly in China from 1990 to 2021
LI Zhixiao ; LOU Ting ; BAI Xiaoling ; CHEN Su ; GUO Shihong ; YANG Zengzhen ; XIAO Changliang
Journal of Prevention and Treatment for Stomatological Diseases 2025;33(11):954-967
Objective:
To analyze the disease burden and trends of oral diseases among China’s elderly population (1990-2021) and provide evidence for developing targeted intervention strategies
Methods :
Using data from the Global Burden of Disease (GBD) 2021 study, we extracted prevalence, incidence, and disability-adjusted life years (DALYs) for oral conditions (permanent dental caries, edentulism, periodontal diseases, and other oral disorders) in individuals aged ≥60 years in China. Due to data limitations, other oral diseases only included DALYs and prevalence. Age-standardized rates (ASR)—including age-standardized prevalence rate (ASPR), age-standardized incidence rate (ASIR), and age-standardized DALYs rate (ASDR)--were calculated. Trends were assessed via Joinpoint regression using average annual percentage change (AAPC), stratified by sex and age groups (60-64, 65-69, 70-74, 75-79, 80-84, 85-89, 90-94, 95+ years).
Results:
From 1990 to 2021, China’s elderly population exhibited distinct trends in oral disease burden. Overall oral diseases showed declining ASDR and ASPR, yet ASIR slightly increased. Permanent dental caries demonstrated significant rises across ASDR, ASIR, and ASPR. Edentulism showed declining ASDR and ASPR alongside stable ASIR. 95+ age group saw rising rates. Periodontal diseases remained largely stable in ASDR and ASPR but experienced a slight ASIR decline. Other oral disorders showed mild ASDR decline and stable ASPR. Notably, sex and age disparities persisted. Women consistently bore higher burdens for overall oral diseases, caries, edentulism, and other oral diseases but lower periodontal disease rates compared to men. 85-89, 90-95, 95+ age group faced rising DALYs and prevalence for overall oral diseases, while all other age groups demonstrated declining trends in both DALYs and prevalence; for permanent caries, the 60-64 age group showed the largest increases in DALY rate, incidence, and prevalence; edentulism demonstrated the most pronounced and sustained rises in DALY rate and prevalence in the 95+ group, while declining most rapidly in the 60-64 age group; for periodontal disease, both DALY rates and prevalence declined in the 90-94 and 95+ age groups, but increased across all measures (DALY rate, incidence, and prevalence) in the 70-74 and 75-79 age group; other oral conditions exhibited relatively stable burden distributions or minor changes, with no significant age-specific shifting trends observed.
Conclusion
From 1990 to 2021, China’s elderly oral disease burden declined overall, but caries surged, edentulism improved, periodontal diseases stabilized, and other oral diseases slightly declined. Prioritizing older women and the adults aged 85+ is critical to addressing evolving oral health needs.
9.The Delphi method was applied to construct the task prompt card for critical care records
Ting LI ; Hongyun TENG ; Lili BAI
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2025;32(4):471-475
Objective To develop a task prompt card for critical care records,providing standardized guidance for nurses on record-keeping tasks,reducing record deficiencies caused by forgetfulness,and improving the quality of critical care records.Methods Relevant literature on critical care record was retrieved from the official website of the Chinese government,the official website of the National Health Commission,Wanfang Database,China National Knowledge Infrastructure(CNKI),VIP database,PubMed,Embase,Web of Science,Clinical Key for nursing,Cochrane Library database,and the International Guideline Network.The Joanna Briggs Institute(JBI)literature evaluation tool was used to evaluate the literature.Information related to the construction of critical care record task prompt cards in the literature was extracted to form the expert consultation letter for the Delphi method.According to the research topic and the requirements of the Delphi consultation letter,relevant experts were selected by purposive sampling.The consultation letters were sent to the experts,and after the letters were collected and statistically analyzed,the research team added,modified or deleted the items of the plan according to the experts'opinions and the results of data analysis.The Delphi method was conducted in multiple rounds until the experts'opinions were consistent.Results A total of 14 articles were ultimately included to form the expert consultation letter of the Delphi method.The first round of the Delphi method expert consultation letter contained 5 first-level indicators and 28 second-level indicators.The average score of the first-level indicators in the first round of expert consultation ranged from 4.78-5.00,with a coefficient of variation ranging from 0.00-0.09 and a full score ratio ranging from 77.8%-100.0%.The average score of the second-level indicators in the first round of expert consultation ranged from 3.44-4.89,with a coefficient of variation ranging from 0.00-0.44 and a full score ratio ranging from 33.3%-88.9%.According to the item retention criteria,4 second-level indicators were deleted,8 second-level indicators were modified and 1 second-level indicator was added.The average score of the first-level indicators in the second round of expert consultation ranged from 4.78-5.00,with a coefficient of variation ranging from 0.00-0.09 and a full score ratio ranging from 77.8%-100.0%.The average score of the second-level indicators in the second round of expert consultation ranged from 4.33-5.00,with a coefficient of variation ranging from 0.00-0.16 and a full score ratio ranging from 44.4%-100.0%.After two rounds of the Delphi method,the research team finalised a critical-care record task-reminder card that comprised 5 first-level and 25 second-level indicators.Conclusions The critical-care record task reminder card is an effective tool for preventing critical care nurses from forgetting due to interruption in record tasks,which can lead to errors or omissions in the record content.It can also improve the quality of nursing management.
10.Prenatal diagnosis and analysis of fetuses with false-positive NIPT results caused by sex chromosomal abnormalities in pregnant women
Tingting BAI ; Fengni FAN ; Xiangdong LIN ; Lihui YANG ; Rong QIANG ; Ting JIA ; Rui WANG
Chinese Journal of Medical Genetics 2025;42(5):525-531
Objective:To analyze the results of prenatal diagnosis for fetuses with a high risk for sex chromosome aneuploidies (SCAs) indicated by non-invasive prenatal testing (NIPT), and to assess the influence of maternal chromosomal factors on the results of NIPT.Methods:A retrospective analysis was conducted on the clinical data of 454 pregnant women with a high risk for SCAs indicated by NIPT undergoing invasive prenatal diagnosis at the Medical Genetics Center of Northwest Women′s and Children′s Hospital from January 2022 to September 2024. The data has included prenatal diagnosis indications, results, pregnancy outcomes, and chromosomal results of the pregnant women. This study has been approved by the Ethics Committe of Northwest Women′s and Children′s Hospital(Ethics No.2024-132)Results:Among the 454 women (including 10 with twin pregnancy) with a high risk for SCAs indicated by NIPT, 149 (including 4 twin cases) were diagnosed with SCAs through invasive prenatal diagnosis. These had included 47, XXX (37 cases), 47, XXY (56 cases), 47, XYY (29 cases), 45, X (1 case), 48, XXYY (1 case), mosaicism (20 cases), sex chromosome structural abnormalities (6 cases), and small-scale pathogenic copy number variations (3 cases). 383 pregnant women (including 7 with twin pregnancy) had accepted chromosomal karyotyping analysis. In total 49 cases(including 1 twih case) of SCAs were detected. Among them, 41 cases were pregnant women with SCAs but normal fetal chromosomes, which yielded a false positive rate for NIPT caused by maternal factors by 10.7%. In addition, 9 cases (including 1 twin case) had SCAs in both the pregnant woman and the fetus. Among the 383 pregnant women, 129 cases (including 3 twin cases) of fetal SCAs were diagnosed, which yielded an overall positive predictive value (PPV) of NIPT for SCAs by 33.7% (129/383). With the 41 false positive cases caused by maternal SCAs excluded, the PPV of NIPT for SCAs will be increased to 37.7% (129/342). Among the 454 pregnant women, twin pregnancies have accounted for 2.2% (10/454). Among the confirmed cases of SCAs, twin cases accounted for 2.7% (4/149). Among the 383 pregnant women undergoing chromosomal karyotyping, twin cases accounted for 1.8% (7/383). Among the detected cases of chromosomal abnormalities, twin cases accounted for 2.0% (1/49). Among singleton pregnancies, the positive predictive value (PPV) of NIPT for sex chromosome aneuploidies (SCAs) was 32.7% (145/444), in twin pregnancies, the PPV was 40.0% (4/10).Conclusion:NIPT can improve the screening efficiency for SCAs, but its PPV is limited. Therefore, pregnant women with a high risk for SCAs indicated by NIPT need to undergo invasive prenatal diagnosis for a definite diagnosis, while the PPV in twin pregnancies may be higher than in singletons, this observation is limited by the small sample size of twins in our study. The study confirmed that chromosomal abnormalitpies in pregnant women can significantly affect the accuracy of NIPT in detecting fetal SCAs. Therefore, when NIPT indicates SCAs, it is recommended to simultaneously conduct chromosomal karyotyping for the pregnant women. The combined application of chromosomal karyotyping analysis, fluorescence in situ hybridization, and copy number variation detection techniques can significantly improve the diagnostic accuracy for SCAs, especially for the detection of mosaicisms.


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