1.Current Status and Prospective of Research on Disease-Syndrome Integrated Animal Models of Spleen and Stomach Diseases in Traditional Chinese Medicine
Jiaqi ZHANG ; Lihui FANG ; Yongtian WEN ; Shan LIU ; Zhuo SHI ; Xintong WANG ; Xinyi DAI ; Meiling SHE ; Lanshuo HU ; Yangxi FU ; Zheng WANG ; Fengyun WANG ; Xudong TANG
Journal of Traditional Chinese Medicine 2026;67(5):510-516
Animal model research on spleen and stomach diseases in traditional Chinese medicine (TCM) is of great significance for elucidating the nature of diseases and syndromes and for revealing the mechanisms of action of Chinese herbal medicinals. At present, studies on classical TCM syndrome models of spleen and stomach diseases mainly focus on spleen deficiency syndrome, liver constraint syndrome, and damp-heat syndrome. Model construction is mostly based on the etiological and pathophysiological characteristics of syndrome, and model evaluation primarily involves macroscopic manifestations and physicochemical indicators. This paper summarizes the current research status of animal models integrating disease and syndrome for seven common spleen and stomach diseases, including chronic gastritis and gastric precancerous lesions, gastroesophageal reflux disease, functional dyspepsia, inflammatory bowel disease, irritable bowel syndrome, functional constipation, and functional diarrhea. The modeling methods and characteristics of disease-syndrome combined animal models for each disease are analyzed. It is proposed that future research on disease-syndrome integration in spleen and stomach diseases should move toward syste-matic, precise, and integrative development, and that interdisciplinary and cross-disciplinary research approaches should be adopted to enhance the predictive value and application efficiency of disease-syndrome combined animal models.
2.Clinical Experience of Professor CUI Yinglin in Treating Pediatric Mitochondrial Encephalomyopathy Based on the Original Qi Theory
Yingge DING ; Shilong CHEN ; Shurui WANG ; Lihui WANG ; Qian CHEN ;
Journal of Traditional Chinese Medicine 2026;67(14):1485-1490
This paper summarizes Professor CUI Yinglin's clinical experience in treating pediatric mitochondrial encephalomyopathy based on the original qi theory. It is proposed that original qi depletion is the core pathogenesis, and the fundamental therapeutic principle is consolidating the root and replenishing original qi. Clinically, the disease is classified into four syndrome types, including insufficiency of kidney essence, spleen qi depletion, liver-kidney yin deficiency, and original qi constraint and stagnation accompanied by phlegm-stasis obstructing the collaterals. Correspondingly, self-formulated Gujing Yiyuan Decoction (固精益元汤) can be used to tonify the kidney and replenish essence, reinforce and strengthen original qi. Modified Yiyuan Decoction (益元汤) is used to fortify the spleen and supplement qi, consolidate the root and replenish original qi. Modified Da Bu Yuan Decoction (大补元煎) is employed to nourish the liver and kidney, and replenish original qi. Self-formulated Huatan Quyu Formula (化痰祛瘀方) is used to supplement qi and activating blood, resolve phlegm and unblocking the collaterals. Medication is flexibly adjusted according to syndrome differentiation, with simultaneous attention to the functional balance of the zang-fu (脏腑) organs and the harmony of qi, blood, yin, and yang, which may provide useful guidance for the clinical treatment of pediatric mitochondrial encephalomyopathy.
3.Clinical Experience of Professor CUI Yinglin in Treating Pediatric Mitochondrial Encephalomyopathy Based on the Original Qi Theory
Yingge DING ; Shilong CHEN ; Shurui WANG ; Lihui WANG ; Qian CHEN ;
Journal of Traditional Chinese Medicine 2026;67(14):1485-1490
This paper summarizes Professor CUI Yinglin's clinical experience in treating pediatric mitochondrial encephalomyopathy based on the original qi theory. It is proposed that original qi depletion is the core pathogenesis, and the fundamental therapeutic principle is consolidating the root and replenishing original qi. Clinically, the disease is classified into four syndrome types, including insufficiency of kidney essence, spleen qi depletion, liver-kidney yin deficiency, and original qi constraint and stagnation accompanied by phlegm-stasis obstructing the collaterals. Correspondingly, self-formulated Gujing Yiyuan Decoction (固精益元汤) can be used to tonify the kidney and replenish essence, reinforce and strengthen original qi. Modified Yiyuan Decoction (益元汤) is used to fortify the spleen and supplement qi, consolidate the root and replenish original qi. Modified Da Bu Yuan Decoction (大补元煎) is employed to nourish the liver and kidney, and replenish original qi. Self-formulated Huatan Quyu Formula (化痰祛瘀方) is used to supplement qi and activating blood, resolve phlegm and unblocking the collaterals. Medication is flexibly adjusted according to syndrome differentiation, with simultaneous attention to the functional balance of the zang-fu (脏腑) organs and the harmony of qi, blood, yin, and yang, which may provide useful guidance for the clinical treatment of pediatric mitochondrial encephalomyopathy.
4.Practice in Validity Period Management of Disinfectants, Feed, and Bedding in Laboratory Animal Facilities under Good Laboratory Practice Management System
Wenjing MA ; Yanping LIU ; Yifan LI ; Huan GUO ; Lihui XIE ; Longji DU ; Jiali MA ; Hongping WANG ; Jiamin LI
Laboratory Animal and Comparative Medicine 2026;46(4):593-603
ObjectiveTo meet the requirements of Good Laboratory Practice (GLP), Sichuan Institute for Drug Control (Sichuan Testing Center of Medical Devices, Sichuan Institute of Musk Deer Breeding) Safety Evaluation Center (hereinafter referred to as the center) conducts a targeted validation study to address the lack of supporting data for the specified validity periods of disinfectants, feed, and bedding during their use in laboratory animal facilities. The study summarizes practical experience in material management and provides a scientific basis for the standardized management of materials in the facility. MethodsUnder the routine operating conditions of the laboratory animal facility at the center, the disinfection efficacy of four commonly used disinfectants was confirmed using the quantitative suspension kill test, with the disinfectants tested on day 0, day 7, and at 1, 2, and 3 months after preparation and after opening; for laboratory animal feed, nutritional components, chemical contaminants, and microbial indicators were tested 7 days after opening; microbial indicators of laboratory animal corncob bedding were tested after storage for 7 days following opening and sterilization. ResultsUnder the GLP management system of our center, the disinfection efficacy log reduction values of prepared 0.04% sodium hypochlorite solution, 0.1% didecyldimethylammonium bromide solution, and 0.2% benzalkonium bromide solution were all ≥5 on days 0 and 7. The log reduction values of opened 75% ethanol were ≥5 on days 0 and 7 and at 1, 2, and 3 months after opening. All disinfectants were therefore qualified and effective. Compared with the factory inspection data, the nutritional components, chemical contaminants, and microbial indicators of SPF-grade rat and mouse maintenance feed, SPF-grade guinea pig growth and reproduction feed, conventional-grade guinea pig growth and reproduction feed, rabbit maintenance feed, and dog maintenance feed showed a slight overall downward trend but no significant differences 7 days after opening. The microbial indicators of specialized corncob bedding for SPF-grade laboratory animals stored for 7 days after opening and conventional-grade corncob bedding stored for 7 days after sterilization showed no significant fluctuations. All indicators still met the relevant requirements of GB/T 14924.2—2001 Laboratory Animals—Hygienic Standard for Formula Feeds and GB 14924.3—2010 Laboratory Animals—Nutrients for Formula Feeds. ConclusionBased on practical experience in managing the center's GLP laboratory animal facility and validation of core quality indicators, the specified validity periods of disinfectants, feed, and bedding meet the quality requirements, providing a practical reference for the standardized management of laboratory animal facilities.
5.Endoscopic-assisted median nerve decompression combined with one-stage tendon transfer for reconstruction of thumb abduction in treatment of severe carpal tunnel syndrome.
Jiaxing SUI ; Yong YANG ; Zhenzhong WANG ; Xingjian HUANG ; Xuanyu JIANG ; Lihui ZHANG ; Haiyang LI
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(12):1510-1515
OBJECTIVE:
To investigate the effectiveness of endoscopic-assisted median nerve decompression with one-stage extensor indicis proprius (EIP) tendon transfer for reconstruction of thumb abduction in patients with severe carpal tunnel syndrome (CTS).
METHODS:
The clinical data of 12 patients with severe CTS who met the selection criteria between December 2019 and December 2024 were retrospectively analyzed. There were 2 males and 10 females with an average age of 55.4 years ranging from 35 to 67 years. The symptom duration of CTS was 12-120 months (mean, 48.7 months) and the thenar muscle atrophy duration was 6-48 months (mean, 13.4 months). The median nerve was released with the help of endoscope, and the EIP tendon was transferred to reconstruct the abduction function of the thumb. The operation time and complications were recorded. Two-point discrimination, palmar abduction angle of the thumb, radial abduction angle of the thumb, and pinch force of the thumb were measured and compared before operation and at last follow-up, and the effectiveness was evaluated by Kapandji score and Disabilities of the Arm, Shoulder and Hand (DASH) score. The satisfaction of the operation was evaluated at last follow-up.
RESULTS:
All surgeries were successfully completed with a mean operation time of 54 minutes (range, 45-68 minutes). All patients were followed up 6-50 months, with an average of 15.3 months. There was no complications such as wound infection, scar pain of wrist, or tendon rupture of transposition, and there were 3 cases of mild limitation of finger extension in the donor site of index finger. At last follow-up, two-point discrimination, palmar abduction angle of the thumb, radial abduction angle of the thumb, Kapandji score, and DASH score were significantly better than those before operation ( P<0.05), but there was no significant difference in thumb pinch force between pre- and post-operation ( P>0.05). The evaluation of surgical satisfaction showed that 7 cases were very satisfied and 5 cases were satisfied.
CONCLUSION
The combination of endoscopic-assisted median nerve decompression and one-stage EIP tendon transfer effectively improves hand function and quality of life in patients with severe CTS by restoring thumb abduction and alleviating neurological symptoms.
Humans
;
Tendon Transfer/methods*
;
Male
;
Middle Aged
;
Carpal Tunnel Syndrome/physiopathology*
;
Female
;
Decompression, Surgical/methods*
;
Aged
;
Adult
;
Thumb/physiopathology*
;
Endoscopy/methods*
;
Retrospective Studies
;
Median Nerve/surgery*
;
Treatment Outcome
;
Plastic Surgery Procedures/methods*
6.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.
7.Clinical Study on Treatment of Non-alcoholic Steatohepatitis Patients with Dyslipidemia by Dizhuo Huayu Prescription with Catgut Embedding Therapy
Xiaoyan LIU ; Dongfang SHANG ; Lihui ZHANG ; Chenlu ZHAO ; Siying WANG ; Huaxin CHEN ; Wenxia ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(20):152-159
ObjectiveTo observe the clinical efficacy and safety of Dizhuo Huayu prescription combined with catgut embedding therapy in patients with nonalcoholic steatohepatitis (NASH) and dyslipidemia and explore the effect of the combined therapy on inflammatory cytokines interleukin (IL)-18 and IL-1β. MethodsA total of 82 patients with NASH and dyslipidemia from the Gastroenterology Department of the First Affiliated Hospital of Henan University of Chinese Medicine were randomly divided into a control group and a treatment group, with 41 patients in each group. The control group received Polyene Polyenylphosphatidylcholine Capsules, while the treatment group received Dizhuo Huayu prescription granules combined with catgut embedding. The treatment duration was 24 weeks for both groups. At weeks 0, 12, and 24, the traditional Chinese medicine (TCM) syndrome score, body mass index (BMI), liver fat content assessed by Fibroscan (CAP value), the level of alanine transaminase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT), total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and free fatty acid (FFA), and the expression of inflammatory cytokines IL-18 and IL-1β in serum were observed. Adverse reactions in both groups were recorded. ResultsA comparison of the comprehensive therapeutic effects between the two groups after 24 weeks of treatment revealed that the total effective rate was 62.16% (23/37) in the control group and 85.71% (30/35) in the treatment group, with a statistically significant difference (χ2 = 5.14, P<0.05). At weeks 12 and 24 after treatment, the TCM syndrome score, BMI, CAP value, TC, TG, LDL-C, and FFA were all significantly lower in both groups compared to pre-treatment levels, while the HDL-C level significantly increased (P<0.05). The effect was better at week 24 (P<0.05) than at week 12 (P<0.05), and the treatment group showed better outcomes than the control group at weeks 12 and 24 after treatment (P<0.05). After 24 weeks of treatment, both groups exhibited significant reductions in IL-18 and IL-1β levels (P<0.05). The treatment group demonstrated superior efficacy compared to the control group after treatment (P<0.05). Both groups experienced decreases in ALT, AST, and GGT levels after treatment (P<0.05). However, there were no statistically significant differences between the 12-week and 24-week post-treatment values within each group, nor were there significant differences between the two groups. No significant adverse reactions were observed in both groups. ConclusionThe Dizhuo Huayu prescription combined with catgut embedding therapy is safe and effective in treating patients with NASH and dyslipidemia, exhibiting hepatoprotective, anti-inflammatory, lipid-regulating, and weight-reducing effects.
8.Clinical efficacy and safety of intravenous colistin sulfate monotherapy versus combination with nebulized inhalation for pulmonary infections caused by carbapenem-resistant gram-negative bacilli: a multicenter retrospective cohort study.
Danyang PENG ; Fan ZHANG ; Ying LIU ; Yanqiu GAO ; Lanjuan XU ; Xiaohui LI ; Suping GUO ; Lihui WANG ; Lin GUO ; Yonghai FENG ; Chao QIN ; Huaibin HAN ; Xisheng ZHENG ; Faming HE ; Xiaozhao LI ; Bingyu QIN ; Huanzhang SHAO
Chinese Critical Care Medicine 2025;37(9):829-834
OBJECTIVE:
To compare the efficacy and safety of intravenous colistin sulfate combined with nebulized inhalation versus intravenous monotherapy for pulmonary infections caused by carbapenem-resistant organism (CRO).
METHODS:
A multicenter retrospective cohort study was conducted. Clinical data were collected from patients admitted to the intensive care unit (ICU) of 10 tertiary class-A hospitals in Henan Province between July 2021 and May 2023, who received colistin sulfate for CRO pulmonary infections. Data included baseline characteristics, inflammatory markers [white blood cell count (WBC), neutrophil count (NEU), procalcitonin (PCT), C-reactive protein (CRP)], renal function indicators [serum creatinine (SCr), blood urea nitrogen (BUN)], life support measures, anti-infection regimens, clinical efficacy, microbiological clearance rate, and prognostic outcomes. Patients were divided into two groups: intravenous group (colistin sulfate monotherapy via intravenous infusion) and combination group ((intravenous infusion combined with nebulized inhalation of colistin sulfate). Changes in parameters before and after treatment were analyzed.
RESULTS:
A total of 137 patients with CRO pulmonary infections were enrolled, including 89 in the intravenous group and 48 in the combination group. Baseline characteristics, life support measures, daily colistin dose, and combination regimens (most commonly colistin sulfate plus carbapenems in both groups) showed no significant differences between two groups. The combination group exhibited higher clinical efficacy [77.1% (37/48) vs. 59.6% (52/89)] and microbiological clearance rate [60.4% (29/48) vs. 39.3% (35/89)], both P < 0.05. Pre-treatment inflammatory and renal parameters showed no significant differences between two groups. Post-treatment, the combination group showed significantly lower WBC and CRP [WBC (×109/L): 8.2±0.5 vs. 10.9±0.6, CRP (mg/L): 14.0 (5.7, 26.6) vs. 52.1 (24.4, 109.6), both P < 0.05], whereas NEU, PCT, SCr, and BUN levels showed no significant between two groups. ICU length of stay was shorter in the combination group [days: 16 (10, 25) vs. 21 (14, 29), P < 0.05], although mechanical ventilation duration and total hospitalization showed no significant differences between two groups.
CONCLUSIONS
Intravenous colistin sulfate combined with nebulized inhalation improved clinical efficacy and microbiological clearance in CRO pulmonary infections with an acceptable safety profile.
Humans
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Colistin/therapeutic use*
;
Retrospective Studies
;
Administration, Inhalation
;
Anti-Bacterial Agents/therapeutic use*
;
Carbapenems/pharmacology*
;
Male
;
Female
;
Middle Aged
;
Gram-Negative Bacteria/drug effects*
;
Aged
;
Treatment Outcome
;
Respiratory Tract Infections/drug therapy*
9.Screening and validation of chemoresistance marker in lung adenocarcinoma based on gene expression profile
Handong Wei ; Shuxing Chen ; Linting Liu ; Zihan Jing ; Yiting Yang ; Qiong Song ; Wenchu Wang ; Chunlin Zou ; Lihui Wang
Acta Universitatis Medicinalis Anhui 2025;60(10):1818-1827
Objective:
To discover molecular markers associated with lung adenocarcinoma diagnosis/prognosis and drug resistance through screening of differentially expressed genes based on published chip data in gene expression databases using bioinformatics methods.
Methods:
Comprehensive analysis was performed in available mRNA microarray datasets including lung adenocarcinoma tissues dataset GSE32863 and lung adenocarcinoma taxane-platin resistance dataset GSE77209 from the gene expression omnibus(GEO) database. Gene ontology enrichment analysis, gene pathway enrichment analysis and protein interaction network analysis were performed based on significantly correlated genes. The expression level of genes was validated in the cancer genome atlas(TCGA) dataset. Survival differences were assessed by the log-rank test in TCGA lung adenocarcinoma dataset. Based on the publications genomics of drug sensitivity in cancer(GDSC) database in CellMiner cross database(CellMiner CDB), Pearson correlation analysis was used to analyze the correlation between differentially expressed genes and the half-maximal inhibitory concentration(IC50) of anticancer drugs.
Results :
There were a total of 77 genes which had a different expression in resistance lung adenocarcinoma cells and lung adenocarcinoma cancer tissues. The functional enrichment analysis showed that these co-different expression genes were mainly enriched in microtubule, extracellular exosome, cell cycle and signaling by nuclear receptors. Protein-protein interactions(PPI) network screened 6 most connected genes as molecular complex(MCODE). Among the MCODE, overexpressed ubiquitin conjugating enzyme E2 T(UBE2T), kinesin family member 20A(KIF20A), PCNA clamp associated factor(KIAA0101), pituitary tumor-transforming gene 1(PTTG1) and NIMA related kinase 2(NEK2) were associated with poor outcomes. Survival analysis results showed that these five genes were upregulated in lung adenocarcinoma tissues and drug-resistant cells and were significantly associated with poor prognosis in lung adenocarcinoma patients. Drug sensitivity analysis results suggested that high expression of PTTG1 and UBE2T was significantly associated with sensitivity to multiple anticancer drugs, including paclitaxel and docetaxel. RT-PCR validation showed that PTTG1 andUBE2T were highly expressed in docetaxel-resistant cells A549-TXR and H358-TXR.
Conclusion
PTTG1 andUBE2T holds the potential to be chemoresistance markers in lung adenocarcinoma.
10.Prenatal diagnosis and analysis of fetuses with false-positive NIPT results caused by sex chromosomal abnormalities in pregnant women.
Tingting BAI ; Fengni FAN ; Lihui YANG ; Xiangdong LIN ; 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 the chromosomal results of pregnant women.
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 of SCAs abnormalities 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, 8 cases (including 1 twin case) had SCAs abnormalities 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 abnormalities 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 abnormalities, 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). By calculation, the proportion of singleton pregnant women with a high risk for SCAs indicated by NIPT was approximately 32.1%, and the proportion of twin pregnant women was approximately 38.6%, indicating that twin pregnancies could increase the positive rate of NIPT.
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, and twin pregnancies can increase the positive rate of NIPT. The study confirmed that chromosomal abnormalities in pregnant women can significantly affect the accuracy of NIPT in detecting fetal SCAs. Therefore, when NIPT indicates SCAs abnormalities, it is recommended to simultaneously conduct chromosomal testing on 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.
Humans
;
Female
;
Pregnancy
;
Sex Chromosome Aberrations
;
Adult
;
Retrospective Studies
;
False Positive Reactions
;
Prenatal Diagnosis/methods*
;
Noninvasive Prenatal Testing/methods*
;
Aneuploidy
;
Male
;
Sex Chromosome Disorders/genetics*


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