1.The relationship between TOMM40 gene polymorphism and inflammatory status and cognitive function in patients with vascular dementia
Yue MA ; Peng ZHANG ; Xiuyan ZHANG
Journal of Apoplexy and Nervous Diseases 2025;42(6):529-533
Objective To explore the relationship between translocase of outer mitochondrial membrane 40(TOMM40)gene polymorphism and inflammatory status and cognitive function in patients with vascular dementia(VaD). Methods From June 2020 to December 2022,48 patients with VaD and 40 age-matched control participants were enrolled. TOMM40_rs11556505 and IL-10-592 A/C_rs1800872 polymorphisms were measured. The cognitive function of the patients was evaluated by using the Repeatable Battery for the Assessment of Neuropsychological Status(RBANS). Results The main effects of VaD were significant in all the analyses of the sub-scores and total score of RBANS(all P<0.001,all FDR<0.001). TOMM40_rs11556505 polymorphism had a significant main effect on language score(F=4.524,P=0.034,Cohen f=0.08). TOMM40×VaD had significant interaction effects on immediate memory(F=4.682,P=0.031,Cohen f=0.08)and language score(F=4.465,P=0.035,Cohen f=0.08). The two-way multivariate analysis of covariance(IL-10×TOMM40)revealed significant interaction effects between their gene polymorphisms on visual space/structure(F=4.063,P=0.045,FDR=0.080,Cohen f=0.13),language(F=12.031,P<0.001,FDR=0.006,Cohen f=0.23),and delayed memory(F=5.118,P=0.025,FDR=0.075,Cohen f=0.23)in patients with VaD. Conclusion IL-10-592 A/C and TOMM40_rs11556505 gene polymorphisms have interaction effects on cognitive function,with their influence direction depending on each other's genotype.
Interleukin-10
2.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.
3.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.
4.Study on Application Law of Stimulation Parameters of Transcutaneous and Transcranial Electrical Stimulation for Post-Stroke Movement Disorders Based on Data Mining
Jingyun XIU ; Liangxiao MA ; Linghui MA ; Tianyi SUN ; Xu QIAN ; Qinyong ZHANG ; Xiuyan WANG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(3):42-47
Objective To explore the application low of stimulation parameters of transcutaneous electrical acupoint stimulation(TEAS)and transcranial direct current stimulation(tDCS)for post-stroke movement disorders based on data mining.Methods The relevant clinical research literature was retrieved from CNKI,Wanfang Data,VIP,CBM,PubMed and Web of Science from January 2000 to May 2023.A database was set up after quality assessment.Frequency analysis,association rules and complex network analysis were used to explore the application law of core acupoints and electrical stimulation parameters.Results A total of 79 articles were included and 128 groups of data were contained.For TEAS,the core acupoints included Waiguan(TE5),Shousanli(LI10),Zusanli(ST36),Hegu(LI4),Neiguan(PC6),Yanglingquan(GB34),etc.,while the most commonly used acupoint combinations of upper limb and lower limb were Shousanli(LI10)-Waiguan(TE5)and Yanglingquan(GB34)-Zusanli(ST36).Among the electrical stimulation parameters of TEAS,the frequencies used vary widely,and 100 Hz was most commonly used,while 2 Hz TEAS was also mainly used for stimulating acupoints located on upper limbs in the treatment of flaccid paralysis.The application of other electrical stimulation parameters was relatively consistent.The bidirectional symmetrical square-wave with 200-250 μs pulse-width was used in majority of studies.The stimulus intensity was mostly determined by patient tolerance.For tDCS,stimulation electrodes were often positioned on the projection of the primary M1,and the safe stimulus intensity was mostly set as 1 to 2 mA.Conclusion In the treatment of post-stroke movement disorders,appropriate acupoints and electrical stimulation parameters of TEAS should be determined on the muscle strength and muscle tension of stroke patients at different stages after stroke,particularly the selection of electric stimulating frequency.
5.Application of remote fundus image reading training in improving the diagnostic ability of ophthalmologists in Xinjiang Uygur Autonomous Region
Xufeng ZHAO ; Xiuyan MA ; Xuejing LI ; Li QIN ; Lina SUO ; Wenping MA ; Shihao LI ; Jiaxing CHEN ; Yaxin YANG ; Xinxia LI ; Tao XIE ; Juan LI ; Yuanshan XIONG ; Zhiyong WU ; Zhihuai CHANG ; Mowen FANG ; Ting WANG ; Hong LIU ; Pengju MA ; Pengpeng LIU ; Jing RAN ; Di YANG ; Changle XUE ; Zhen XIE ; Zhao FAN ; Yang WANG ; Peng LEI ; Qingjiang HUANG ; Bing LI ; Shi FENG ; Zhangwanyu WEI ; Yishuang MAO ; Weihong YU ; Linjun ZHANG
Chinese Journal of Ocular Fundus Diseases 2024;40(12):941-946
Objective:To explore the feasibility and effect of remote medical education model using online film reading training to improve the ability of ophthalmologists in the Xinjiang Uygur Autonomous Region (hereinafter referred to as "Xinjiang Region" ) in diagnosing fundus diseases.Methods:The three-level film reading training system of Xinjiang Production and Construction Corps system division hospital-Corps Hospital-Peking Union Medical College Hospital was established. From June 2022 to January 2023, 4 159 posterior color fundus images were continuously collected from Department of Ophthalmology of Xinjiang Corps Hospital and 4 divisional hospitals in the Corps medical system. Among them, hypertensive retinopathy, diabetic retinopathy, exudative age-related macular degeneration (AMD), atrophic AMD and retinal vein occlusion were 3 073, 651, 43, 186 and 206 cases, respectively. The images were divided into 3 rounds (first, second and last) according to the proportion of diseases. The doctors who participated in the training (hereinafter referred to as the "training") were 15 ophthalmologists from the Corps Hospital of Xinjiang Region and the division hospital of the Corps system. There were 7 male and 8 female. Age was (38.1±4.0) years. The titles of senior, deputy senior, intermediate and junior are 1, 6, 5 and 3 respectively; Bachelor's degree and master's degree are 13 and 2 respectively. The working time of fundus disease specialty was (9.6±3.3) years. The film reading system training was conducted before the first round of labeling, and after each round of film reading, the doctors of Peking Union Medical College Hospital gave feedback and explanation on the film reading results. The diagnostic consistency, sensitivity and specificity were compared by paired sample t test. Spearman or Pearson correlation analysis was conducted between the improvement of diagnostic level and professional title, education, age and working hours of ocular fundus disease. Results:All the participating doctors completed the first, second and last reading. After each round of film reading, the film reading summary was carried out for 2 hours. The average diagnostic agreement rates of participating physicians were 53.0%, 67.0% and 75.0%, respectively. The sensitivity and specificity were 0.38, 0.69, 054 and 0.66, 0.85, 0.96, respectively. There was significant difference between the first and last examination ( P<0.001). The sensitivity of the second reading was significantly higher than that of the first reading, and the sensitivity of the last reading was significantly lower than that of the second reading, with statistical significance ( P<0.05). The specificity of the second reading was significantly higher than that of the first reading, and the last reading was significantly higher than that of the second reading, with statistical significance ( P<0.05). There was no significant correlation ( P>0.05) between the improvement of diagnostic level of participating physicians and educational background ( Rho=0.07), professional title ( Rho=0.13), age ( r=0.20), and working time of ophthalmofundus disease specialty ( r=0.26). Conclusions:Relying on the three-level online telemedicine training, it can improve the ability of ophthalmologists in Xinjiang region to diagnose fundus diseases. The preliminary telemedicine education model has demonstrated potential for feasibility and effectiveness in remote areas with inadequate medical resources.
6.Application of remote fundus image reading training in improving the diagnostic ability of ophthalmologists in Xinjiang Uygur Autonomous Region
Xufeng ZHAO ; Xiuyan MA ; Xuejing LI ; Li QIN ; Lina SUO ; Wenping MA ; Shihao LI ; Jiaxing CHEN ; Yaxin YANG ; Xinxia LI ; Tao XIE ; Juan LI ; Yuanshan XIONG ; Zhiyong WU ; Zhihuai CHANG ; Mowen FANG ; Ting WANG ; Hong LIU ; Pengju MA ; Pengpeng LIU ; Jing RAN ; Di YANG ; Changle XUE ; Zhen XIE ; Zhao FAN ; Yang WANG ; Peng LEI ; Qingjiang HUANG ; Bing LI ; Shi FENG ; Zhangwanyu WEI ; Yishuang MAO ; Weihong YU ; Linjun ZHANG
Chinese Journal of Ocular Fundus Diseases 2024;40(12):941-946
Objective:To explore the feasibility and effect of remote medical education model using online film reading training to improve the ability of ophthalmologists in the Xinjiang Uygur Autonomous Region (hereinafter referred to as "Xinjiang Region" ) in diagnosing fundus diseases.Methods:The three-level film reading training system of Xinjiang Production and Construction Corps system division hospital-Corps Hospital-Peking Union Medical College Hospital was established. From June 2022 to January 2023, 4 159 posterior color fundus images were continuously collected from Department of Ophthalmology of Xinjiang Corps Hospital and 4 divisional hospitals in the Corps medical system. Among them, hypertensive retinopathy, diabetic retinopathy, exudative age-related macular degeneration (AMD), atrophic AMD and retinal vein occlusion were 3 073, 651, 43, 186 and 206 cases, respectively. The images were divided into 3 rounds (first, second and last) according to the proportion of diseases. The doctors who participated in the training (hereinafter referred to as the "training") were 15 ophthalmologists from the Corps Hospital of Xinjiang Region and the division hospital of the Corps system. There were 7 male and 8 female. Age was (38.1±4.0) years. The titles of senior, deputy senior, intermediate and junior are 1, 6, 5 and 3 respectively; Bachelor's degree and master's degree are 13 and 2 respectively. The working time of fundus disease specialty was (9.6±3.3) years. The film reading system training was conducted before the first round of labeling, and after each round of film reading, the doctors of Peking Union Medical College Hospital gave feedback and explanation on the film reading results. The diagnostic consistency, sensitivity and specificity were compared by paired sample t test. Spearman or Pearson correlation analysis was conducted between the improvement of diagnostic level and professional title, education, age and working hours of ocular fundus disease. Results:All the participating doctors completed the first, second and last reading. After each round of film reading, the film reading summary was carried out for 2 hours. The average diagnostic agreement rates of participating physicians were 53.0%, 67.0% and 75.0%, respectively. The sensitivity and specificity were 0.38, 0.69, 054 and 0.66, 0.85, 0.96, respectively. There was significant difference between the first and last examination ( P<0.001). The sensitivity of the second reading was significantly higher than that of the first reading, and the sensitivity of the last reading was significantly lower than that of the second reading, with statistical significance ( P<0.05). The specificity of the second reading was significantly higher than that of the first reading, and the last reading was significantly higher than that of the second reading, with statistical significance ( P<0.05). There was no significant correlation ( P>0.05) between the improvement of diagnostic level of participating physicians and educational background ( Rho=0.07), professional title ( Rho=0.13), age ( r=0.20), and working time of ophthalmofundus disease specialty ( r=0.26). Conclusions:Relying on the three-level online telemedicine training, it can improve the ability of ophthalmologists in Xinjiang region to diagnose fundus diseases. The preliminary telemedicine education model has demonstrated potential for feasibility and effectiveness in remote areas with inadequate medical resources.
7.A study on the suitability of HD-V2 film in ultra-high dose-rate electron beam dosimetry
Ronghu MAO ; Leijie MA ; Hongchang LEI ; Peng CHEN ; Bing LI ; Hui LUO ; Han LIU ; Xiuyan CHENG ; Wei GUO ; Hong GE
Chinese Journal of Radiation Oncology 2023;32(4):333-338
Objective:To evaluate the usability of Gafchromic HD-V2 film for dose dosimetry in the ultra-high dose-rate (UD) electron beam from a modified medical linac, and to investigate the response between the energy and dose-rate dependence to the film.Methods:The HD-V2 film was utilized to measure the average dose-rate of the UD electron beam. The measured result was compared with those by advanced Markus chamber and alanine pellets. And characteristics of the UD electron beam were also measured by HD-V2 film. Energy dependence of HD-V2 film at three beam energies (6 MV X-ray, 9 MeV and 16 MeV electron beam) was investigated by obtaining and comparing the calibration curves based on the clinical linear accelerator in the dose range of 10-300 Gy. The dose-rate dependence of HD-V2 film was also studied by varying the dose rate among 0.03 Gy/s, 0.06 Gy/s and 0.1 Gy/s, and range of 100-200 Gy/s.Results:The measured average maximum dose-rate of 9 MeV UD electron beam at source skin distance (SSD) 100 cm was approximately 121 Gy/s using HD-V2 film, consistent with the results by advanced Markus chamber and alanine pellets. The measured percentage depth dose (PDD) curve parameters of the UD electron beam were similar to the conventional 9 MeV beam. The off-axis dose distribution of the UD electron beam showed the highest central axis, and the dose was gradually decreased with the increase of off-axis distance. The energy dependence of HD-V2 film had no dependency of 6 MV and 9, 16 MeV while measuring the dose in the range from 20 to 300 Gy. The HD-V2 film had no significant dose-rate dependency at the dose rate of 0.03 Gy/s, 0.06 Gy/s and 0.1 Gy/s for the clinical linear accelerator. Likewise, there was also no dose-rate dependence in the range 100-200 Gy/s in the modified machine.Conclusion:HD-V2 film is suitable for measuring ultra-high dose rate electron beam, independent of energy and dose rate.
8.Clinical application and evaluation of health economics for non-invasive prenatal testing of fetuses in Tianjin.
Ruiyu MA ; Xiaozhou LI ; Song XU ; Yunfang SHI ; Duan JU ; Yan LI ; Fanrong MENG ; Xiuyan WANG ; Xinxin DU ; Naiwei XU ; Ying ZHANG
Chinese Journal of Medical Genetics 2023;40(2):135-142
OBJECTIVE:
To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies.
METHODS:
10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13.
RESULTS:
The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly.
CONCLUSION
The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.
Pregnancy
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Female
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Humans
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Trisomy/genetics*
;
Retrospective Studies
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Prenatal Diagnosis/methods*
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Down Syndrome/genetics*
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Aneuploidy
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Chromosome Aberrations
;
Trisomy 18 Syndrome/genetics*
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Sex Chromosome Aberrations
;
Fetus
9.Efficacy of noninvasive prenatal testing in fetal chromosome aneuploidy in cautious population
Na LI ; Duan JU ; Xiuyan WANG ; Chunya ZHAI ; Yingxia LONG ; Yanhong MA ; Qiuxia WANG ; Ying ZHANG ; Bibo YUAN ; Xiaozhou LI
Chinese Journal of Reproduction and Contraception 2023;43(7):697-702
Objective:To analyze the application value of noninvasive prenatal testing (NIPT) in screening fetal chromosome aneuploidy in cautious population.Methods:The data of 19 590 pregnant women who voluntarily received NIPT in the Department of Gynecology and Obstetrics, General Hospital of Tianjin Medical University from October 2016 to June 2020 were retrospectively analyzed. The patients were divided into groups according to age, type of pregnancy and number of fetuses. The screening efficiency of NIPT was compared among different groups. Meanwhile, the screening efficacy of second trimester serum screening (STSS), STSS combined with NIPT and direct NIPT screening was compared and analyzed.Results:The positive predictive values of NIPT for trisomy 21, trisomy 18 and trisomy 13 were 87.18%, 54.84% and 41.18%, respectively. In pregnant women with advanced age (≥35 years old), in vitro fertilization and embryo transfer (IVF-ET) and twin pregnancy, NIPT sensitivity was all 100%, specificity was 99.79%, 99.82% and 100%, positive predictive value was 85.25%, 50.00% and 100%, respectively. The positive predictive value of ≥35 years old patients was significantly higher than that of <35 years old patients (61.54%, P=0.003), and the other indicators were similar to those of the young (<35 years old), conceived naturally and singleton group (all P>0.05). Compared with STSS, combined screening and direct NIPT screening had higher positive predictive value (1.20%, 68.75%, 73.74%; all P<0.001) and lower false positive rate (27.83%, 0.19%, 0.17%; all P<0.001). Conclusion:NIPT has high sensitivity, specificity and positive predictive value for fetal chromosome aneuploidy screening in pregnant women with advanced age, STSS high risk, IVF-ET and twin pregnancy, which greatly relieves the pressure of prenatal diagnosis and reduces the birth rates of children with chromosome disease.
10.Efficacy of noninvasive prenatal testing in fetal chromosome aneuploidy in cautious population
Na LI ; Duan JU ; Xiuyan WANG ; Chunya ZHAI ; Yingxia LONG ; Yanhong MA ; Qiuxia WANG ; Ying ZHANG ; Bibo YUAN ; Xiaozhou LI
Chinese Journal of Reproduction and Contraception 2023;43(7):697-702
Objective:To analyze the application value of noninvasive prenatal testing (NIPT) in screening fetal chromosome aneuploidy in cautious population.Methods:The data of 19 590 pregnant women who voluntarily received NIPT in the Department of Gynecology and Obstetrics, General Hospital of Tianjin Medical University from October 2016 to June 2020 were retrospectively analyzed. The patients were divided into groups according to age, type of pregnancy and number of fetuses. The screening efficiency of NIPT was compared among different groups. Meanwhile, the screening efficacy of second trimester serum screening (STSS), STSS combined with NIPT and direct NIPT screening was compared and analyzed.Results:The positive predictive values of NIPT for trisomy 21, trisomy 18 and trisomy 13 were 87.18%, 54.84% and 41.18%, respectively. In pregnant women with advanced age (≥35 years old), in vitro fertilization and embryo transfer (IVF-ET) and twin pregnancy, NIPT sensitivity was all 100%, specificity was 99.79%, 99.82% and 100%, positive predictive value was 85.25%, 50.00% and 100%, respectively. The positive predictive value of ≥35 years old patients was significantly higher than that of <35 years old patients (61.54%, P=0.003), and the other indicators were similar to those of the young (<35 years old), conceived naturally and singleton group (all P>0.05). Compared with STSS, combined screening and direct NIPT screening had higher positive predictive value (1.20%, 68.75%, 73.74%; all P<0.001) and lower false positive rate (27.83%, 0.19%, 0.17%; all P<0.001). Conclusion:NIPT has high sensitivity, specificity and positive predictive value for fetal chromosome aneuploidy screening in pregnant women with advanced age, STSS high risk, IVF-ET and twin pregnancy, which greatly relieves the pressure of prenatal diagnosis and reduces the birth rates of children with chromosome disease.

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