1.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
2.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies.
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
OBJECTIVE:
To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.
METHODS:
A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).
RESULTS:
Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal.
CONCLUSION
The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans
;
Female
;
Pregnancy
;
Aneuploidy
;
Prenatal Diagnosis/methods*
;
Karyotyping
;
Retrospective Studies
;
Polymerase Chain Reaction/methods*
;
Chromosome Disorders/genetics*
;
Adult
;
Trisomy 13 Syndrome/diagnosis*
;
Trisomy 18 Syndrome/genetics*
;
Down Syndrome/genetics*
3.Analysis on the effect of occupational health management assistance to employers in small and micro enterprises in Suzhou City
Hongying PAN ; Xuejiao ZENG ; Hengdong ZHANG ; Yinling LI ; Xingqian XIE
Chinese Journal of Industrial Hygiene and Occupational Diseases 2025;43(3):228-231
Objective:To analyze the impact of occupational health management assistance for small and micro enterprises in Suzhou on employers, exploring the assistance model for occupational health management in small and micro enterprises.Methods:From 2020 to 2022, a total of 318 small and micro enterprises with serious occupational disease hazards, weak occupational health management, and strong subjective improvement were selected as assistance objects annually by means of territorial recommendation and active registration of employers. The basic information of the enterprise and the status of occupational health management were obtained by means of questionnaire survey, archives review, workplace field investigation and occupational disease hazard factors detection. Pearson χ2 test was used to analyze the changes of occupational health management before and after helping enterprises. Results:The small and micro enterprises receiving assistance were mainly private enterprises (51.26%, 163/318) and limited liability companies (27.99%, 89/318). The occupational health training rates for enterprise leaders, management personnel, and workers increased from 77.36% (246/318), 82.08% (261/318) and 72.44% (4554/6287) before assistance to 90.57% (288/318), 95.28% (303/318) and 94.40% (5905/6255), the differences were statistically significant ( χ2=20.60, 27.63, 1092.67, all P<0.001). After the assistance, the distribution and wearing of personal protective equipment for workers, the detection of occupational hazard factors in the workplace and occupational health examination by enterprises increased by 3.34%, 18.39%, 13.21% and 15.10%, respectively. In terms of occupational health management, the comprehensive establishment rate of occupational health management system increased from 21.70% (69/318) before assistance to 64.47% (205/318). Compared with before assistance, the comprehensive notification rate/setting rate of warning signs and notification cards, labor contracts for occupational disease hazard positions, occupational health bulletin boards, and occupational health examination results were significantly increased after assistance ( χ2=120.08, 77.40, 149.18, 86.76, all P<0.001) . Conclusion:Suzhou adopts a model led by the health administrative department and supported by technical support from service institutions to assist small and micro enterprises, resulting in a significant improvement in the occupational health management level of small and micro enterprises.
4.A test-negative study on the protective effectiveness of acellular pertussis vaccine in children aged 2 months to 6 years based on propensity score matching method
Yao ZHU ; Yang ZHOU ; Xiaohua QI ; Xuejiao PAN ; Linling DING ; Fuxing CHEN ; Kai GAO ; Yu HU ; Hanqing HE
Chinese Journal of Preventive Medicine 2025;59(11):1834-1839
Objective:To evaluate the protective effectiveness (VE) of the acellular pertussis vaccine (aPV) against pertussis in children aged 2 months to 6 years.Methods:A test-negative case-control study was conducted among children aged 2 months to 6 years who sought medical care for cough and underwent pertussis nucleic acid testing at sentinel surveillance hospitals in Zhejiang Province in 2024. Cases were defined as those with positive pertussis nucleic acid test results, while controls were test-negative individuals matched 1∶1 based on propensity scores using the caliper matching method. Conditional logistic regression models were used to calculate odds ratios ( ORs) and VEs. Results:Among the 658 participants, 31.76% (209 cases) tested positive for pertussis. After propensity score matching, 203 cases and 203 controls were included in the analysis. The VE of 1-2, 3, and 4 doses of aPV against pertussis was 52.46% (95% CI:-39.82%-83.84%), 65.22% (95% CI: 6.86%-87.02%), and 72.21% (95% CI: 34.33%-88.24%), respectively. For pertussis-related hospitalization, the VE of 1-3 and 4 doses was 80.95% (95% CI:31.38%-94.71%) and 86.79% (95% CI: 51.89%-96.37%). The VE for those who completed 4 doses of vaccination and had intervals of less than 2 years, 2 years, 3 years, and 4 years or more after vaccination were 91.15% (95% CI: 67.61%-97.58%), 84.70% (95% CI: 43.71%-95.84%),56.23% (95% CI:-47.58%-87.02%), and 49.92% (95% CI:-83.74%-86.35%), respectively. Conclusion:The VE of aPV against pertussis in children aged 2 months to 6 years increases with the number of doses administered, and it is more effective in preventing hospitalization due to pertussis. The VE declines rapidly over time after the last dose. It is recommended to follow the new pertussis immunization program for timely and full vaccination.
5.Interpretation in American Institute of Ultrasound in Medicine Practice Parameter for the Performance of An Ultrasound Examination of the Neonatal and Infant Spine(2021)
Qiaojian LIU ; Chen PAN ; Wei FAN ; Xuejiao LI ; Mei WANG
Chinese Journal of Medical Imaging 2025;33(8):801-804
The American Institute of Ultrasound in Medicine(AIUM)practice parameter for the performance of an ultrasound examination of the neonatal and infant spine was revised and published by the AIUM in collaboration with other academic organizations in the United States,to intend to provide the medical ultrasound community with recommendations for the performance of high-quality ultrasound examination of the neonatal and infant spine.The practice parameter propose indications and contraindications for the performance of an ultrasound examination of the neonatal and infant spine,elaborate on specifications of the spinal ultrasound examination,especially the methods for determining the vertebral body level of the end of the spinal cord and key points for evaluating the movement of nerve roots.Following this practice parameter will maximize the detection of abnormalities of the infant spine.This interpretation aims to help beginners and primary care practitioners more easily master the techniques of an ultrasound examination of the neonatal and infant spine,promote the standardized implementation and popularization of this examination,and enhance the diagnostic accuracy for intraspinal pathologies.
6.Analysis on the effect of occupational health management assistance to employers in small and micro enterprises in Suzhou City
Hongying PAN ; Xuejiao ZENG ; Hengdong ZHANG ; Yinling LI ; Xingqian XIE
Chinese Journal of Industrial Hygiene and Occupational Diseases 2025;43(3):228-231
Objective:To analyze the impact of occupational health management assistance for small and micro enterprises in Suzhou on employers, exploring the assistance model for occupational health management in small and micro enterprises.Methods:From 2020 to 2022, a total of 318 small and micro enterprises with serious occupational disease hazards, weak occupational health management, and strong subjective improvement were selected as assistance objects annually by means of territorial recommendation and active registration of employers. The basic information of the enterprise and the status of occupational health management were obtained by means of questionnaire survey, archives review, workplace field investigation and occupational disease hazard factors detection. Pearson χ2 test was used to analyze the changes of occupational health management before and after helping enterprises. Results:The small and micro enterprises receiving assistance were mainly private enterprises (51.26%, 163/318) and limited liability companies (27.99%, 89/318). The occupational health training rates for enterprise leaders, management personnel, and workers increased from 77.36% (246/318), 82.08% (261/318) and 72.44% (4554/6287) before assistance to 90.57% (288/318), 95.28% (303/318) and 94.40% (5905/6255), the differences were statistically significant ( χ2=20.60, 27.63, 1092.67, all P<0.001). After the assistance, the distribution and wearing of personal protective equipment for workers, the detection of occupational hazard factors in the workplace and occupational health examination by enterprises increased by 3.34%, 18.39%, 13.21% and 15.10%, respectively. In terms of occupational health management, the comprehensive establishment rate of occupational health management system increased from 21.70% (69/318) before assistance to 64.47% (205/318). Compared with before assistance, the comprehensive notification rate/setting rate of warning signs and notification cards, labor contracts for occupational disease hazard positions, occupational health bulletin boards, and occupational health examination results were significantly increased after assistance ( χ2=120.08, 77.40, 149.18, 86.76, all P<0.001) . Conclusion:Suzhou adopts a model led by the health administrative department and supported by technical support from service institutions to assist small and micro enterprises, resulting in a significant improvement in the occupational health management level of small and micro enterprises.
7.Interpretation in American Institute of Ultrasound in Medicine Practice Parameter for the Performance of An Ultrasound Examination of the Neonatal and Infant Spine(2021)
Qiaojian LIU ; Chen PAN ; Wei FAN ; Xuejiao LI ; Mei WANG
Chinese Journal of Medical Imaging 2025;33(8):801-804
The American Institute of Ultrasound in Medicine(AIUM)practice parameter for the performance of an ultrasound examination of the neonatal and infant spine was revised and published by the AIUM in collaboration with other academic organizations in the United States,to intend to provide the medical ultrasound community with recommendations for the performance of high-quality ultrasound examination of the neonatal and infant spine.The practice parameter propose indications and contraindications for the performance of an ultrasound examination of the neonatal and infant spine,elaborate on specifications of the spinal ultrasound examination,especially the methods for determining the vertebral body level of the end of the spinal cord and key points for evaluating the movement of nerve roots.Following this practice parameter will maximize the detection of abnormalities of the infant spine.This interpretation aims to help beginners and primary care practitioners more easily master the techniques of an ultrasound examination of the neonatal and infant spine,promote the standardized implementation and popularization of this examination,and enhance the diagnostic accuracy for intraspinal pathologies.
8.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
9.A test-negative study on the protective effectiveness of acellular pertussis vaccine in children aged 2 months to 6 years based on propensity score matching method
Yao ZHU ; Yang ZHOU ; Xiaohua QI ; Xuejiao PAN ; Linling DING ; Fuxing CHEN ; Kai GAO ; Yu HU ; Hanqing HE
Chinese Journal of Preventive Medicine 2025;59(11):1834-1839
Objective:To evaluate the protective effectiveness (VE) of the acellular pertussis vaccine (aPV) against pertussis in children aged 2 months to 6 years.Methods:A test-negative case-control study was conducted among children aged 2 months to 6 years who sought medical care for cough and underwent pertussis nucleic acid testing at sentinel surveillance hospitals in Zhejiang Province in 2024. Cases were defined as those with positive pertussis nucleic acid test results, while controls were test-negative individuals matched 1∶1 based on propensity scores using the caliper matching method. Conditional logistic regression models were used to calculate odds ratios ( ORs) and VEs. Results:Among the 658 participants, 31.76% (209 cases) tested positive for pertussis. After propensity score matching, 203 cases and 203 controls were included in the analysis. The VE of 1-2, 3, and 4 doses of aPV against pertussis was 52.46% (95% CI:-39.82%-83.84%), 65.22% (95% CI: 6.86%-87.02%), and 72.21% (95% CI: 34.33%-88.24%), respectively. For pertussis-related hospitalization, the VE of 1-3 and 4 doses was 80.95% (95% CI:31.38%-94.71%) and 86.79% (95% CI: 51.89%-96.37%). The VE for those who completed 4 doses of vaccination and had intervals of less than 2 years, 2 years, 3 years, and 4 years or more after vaccination were 91.15% (95% CI: 67.61%-97.58%), 84.70% (95% CI: 43.71%-95.84%),56.23% (95% CI:-47.58%-87.02%), and 49.92% (95% CI:-83.74%-86.35%), respectively. Conclusion:The VE of aPV against pertussis in children aged 2 months to 6 years increases with the number of doses administered, and it is more effective in preventing hospitalization due to pertussis. The VE declines rapidly over time after the last dose. It is recommended to follow the new pertussis immunization program for timely and full vaccination.
10.Analysis of predictive accuracy and its influential factors of three individualized administration tools for tacrolimus after kidney transplantation
Guohui WANG ; Xingde LI ; Ya PAN ; Panpan MAO ; Hanshu ZHANG ; Xuejiao MA ; Cangsang SONG
China Pharmacy 2024;35(24):3023-3028
OBJECTIVE To evaluate the accuracy of three individualized drug delivery tools,i.e.JPKD,SmartDose and NextDose,in predicting tacrolimus dose and blood concentration after kidney transplantation,and analyze the influential factors of prediction accuracy.METHODS The clinical data of adult hospitalized patients treated with tacrolimus after kidney transplantation from January 2021 to June 2023 were retrospectively collected.Three individualized dosing tools,i.e.JPKD,SmartDose and NextDose,were used to predict the dose and plasma concentration of tacrolimus.The absolute prediction error(APE)and prediction error(PE)between the measured value and the predicted value,and prediction success rate were calculated(APE<30%indicating a good forecast).Pearson assay or Spearman assay was used to analyze the correlation between the predicted dosage and actual dosage,as well as the predicted and measured blood concentration values using three software;univariate analysis was used to investigate the influential factors for prediction accuracy of JPKD,SmartDose and NextDose.RESULTS A total of 110 hospitalized patients were included in this study,and 193 tacrolimus doses and plasma concentrations were monitored.The predicted doses of JPKD,SmartDose and NextDose were(2.0±0.7),(2.7±1.9),(1.8±0.8)mg,their measured value was(1.9±0.6)mg,and the correlation coefficients between the predicted values and the measured value were 0.841,0.450,0.247(P<0.001);the median APEs were 6.00%,52.07%and 30.40%,and the median PEs were 5.00%,18.50%and-3.50%;the prediction success rates were 98.45%,30.05%and 49.22%.The predicted values of tacrolimus concentrations using JPKD,SmartDose,NextDose were(6.74±3.36),(6.93±5.02),9.00(5.80±12.60)ng/mL,the measured value was 8.64(7.11,9.77)ng/mL,and the correlation coefficients between the predicted values and the measured value were 0.997(P<0.001),-0.066(P=0.360),0.920(P<0.001).The median APEs were 5.54%,45.91%and 35.56%,and PEs were-4.94%(median),-17.050%(median)and 36.93%(average value);the prediction success rates were 97.93%,32.64%and 37.31%.Univariate analysis showed that the dosage,blood concentration,body weight,transplantation time and others were related to the prediction accuracy(P<0.05).CONCLUSIONS The good prediction rates of tacrolimus dose and blood concentration in kidney transplant patients using three personalized drug delivery tools,from high to low,are JPKD,NextDose,and SmartDose,suggesting that JPKD can be prioritized in clinical use.

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