Objective:To investigate the current status of preimplantation genetic testing for aneuploidies (PGT-A) in China in 2024 and to provide recommendations for ensuring the consistency of PGT-A results.Methods:This study was a nationwide external quality assessment research. The National Center for Clinical Laboratories of the National Health Commission conducted two surveys in June and December 2024, with participation from 31 laboratories across China. During each survey, quality control samples of varying concentrations were distributed: the first survey distributed 6 samples (Batch Nos. 202401-202406) and the second survey distributed 3 samples (Batch Nos. 202431-202433). Participating laboratories were required to submit information including detection platforms, single-cell amplification methods, library construction methods, sequencing instruments, and test results. Collected data were statistically analyzed using Microsoft Excel to evaluate laboratories' PGT-A testing capabilities and determine whether results met predefined quality control requirements.Results:All 31 laboratories submitted results for both surveys. In the first survey, 90.3% (28/31) met qualification criteria with a 9.7% failure rate (3/31). For individual batches, pass rates were 90.3% (28/31) for batches 202401-202403 and 100% (31/31) for batches 202404-202406. The second survey achieved 100% (31/31) compliance across all three batches (202431-202433), with each batch maintaining a 100% pass rate.Conclusion:The detection quality of PGT-A in China is generally good, but with differences, and factors such as sample concentration, transportation conditions and detection methods affect the consistency of the results. The study highlights the urgent need for nationwide external quality assessment of PGT-A in China. This will help identify issues in laboratories in a timely manner and ensure the consistency of PGT-A test results.

Objective:To investigate the current status of preimplantation genetic testing for aneuploidies (PGT-A) in China in 2024 and to provide recommendations for ensuring the consistency of PGT-A results.Methods:This study was a nationwide external quality assessment research. The National Center for Clinical Laboratories of the National Health Commission conducted two surveys in June and December 2024, with participation from 31 laboratories across China. During each survey, quality control samples of varying concentrations were distributed: the first survey distributed 6 samples (Batch Nos. 202401-202406) and the second survey distributed 3 samples (Batch Nos. 202431-202433). Participating laboratories were required to submit information including detection platforms, single-cell amplification methods, library construction methods, sequencing instruments, and test results. Collected data were statistically analyzed using Microsoft Excel to evaluate laboratories' PGT-A testing capabilities and determine whether results met predefined quality control requirements.Results:All 31 laboratories submitted results for both surveys. In the first survey, 90.3% (28/31) met qualification criteria with a 9.7% failure rate (3/31). For individual batches, pass rates were 90.3% (28/31) for batches 202401-202403 and 100% (31/31) for batches 202404-202406. The second survey achieved 100% (31/31) compliance across all three batches (202431-202433), with each batch maintaining a 100% pass rate.Conclusion:The detection quality of PGT-A in China is generally good, but with differences, and factors such as sample concentration, transportation conditions and detection methods affect the consistency of the results. The study highlights the urgent need for nationwide external quality assessment of PGT-A in China. This will help identify issues in laboratories in a timely manner and ensure the consistency of PGT-A test results.

Objective:To investigate risk factors for early mortality (EM) in patients with newly diagnosed multiple myeloma (NDMM) and to build an EM-predictive model.Methods:In a cohort of 275 patients with NDMM, risk factors for EM at 6, 12, and 24 months after diagnosis (EM6, EM12, and EM24, respectively) were determined to establish a model to predict EM.Results:The rates of EM6, EM12, and EM24 were 5.5% , 12.7% , and 30.2% , respectively. The most common cause for EM was disease progression/relapse, accounting for 60.0% , 77.1% , and 84.3% of EM6, EM12, and EM24, respectively. EM6 was associated with corrected serum calcium >2.75 mmol/L and platelet count <100×10 9/L, whereas risk factors for EM12 included age >75 years, ISS Ⅲ, R-ISS Ⅲ, corrected serum calcium >2.75 mmol/L, serum creatinine >177 μmol/L, platelet count <100×10 9/L, and bone marrow plasma cell ratio ≥ 60% . In addition to the risk factors for EM12, EM24 was also associated with male sex and 1q21 gain. By multivariate analysis, age >75 years, platelet count <100×10 9/L, and 1q21 gain were independent risk factors for EM24 but there were no independent risk factors significantly associated with EM6 and EM12. Using a scoring system including these three risk factors, a Cox model for EM24 was generated to distinguish patients with low (score<3) and high (score ≥ 3) risk. The sensitivity and specificity of the model were 20.7% and 99.2% , respectively. Further, an internal validation performed in a cohort of 183 patients with NDMM revealed that the probability of EM24 in high-risk patients was 26 times higher than that in low-risk patients. Moreover, this model was also able to predict overall survival. The median overall survival of patients with scores of 0, 1, 2, 3, 4, and 5 were 59, 41, 22, 17.5, and 16 months, respectively. Conclusion:In the study cohort, the EM6, EM12, and EM24 rates were 5.5% , 12.7% , and 30.2% , respectively, and disease progression or relapse were main causes of EM. An EM24-predictive model built on three independent risk factors for EM24 (age>75 years, platelet count<100×10 9/L, and 1q21 gain) might predict EM risk and overall survival.

Objective: To assess the association of single nucleotide polymorphisms (SNPs) in SLCO1B3 gene with prognosis of breast cancer (BC) patients treated with neoadjuvant chemotherapy of TA regimen (taxane and antharcycline drugs). Methods: 439 female BC patients were recruited and treated with neoadjuvant chemotherapy of TA regimen. A blood sample (2 ml) of peripheral blood was collected from each patient before chemotherapy. Tagging SNPs (tag-SNPs) were selected. We investigated the association of tag-SNPs with prognosis, by Sequenom Mass ARRAY system platform, characterizing tag-SNPs. The hazard ratio (HR) and 95% confidence interval (CI) for progression or death were calculated by multivariable-adjusted Cox regression model. Results: Seven tag-SNPs (rs11045689, rs200104106, rs3764006, rs3834935, rs4149117, rs7305323 and rs73241801) were selected for study. Compared with individuals carrying the rs11045689 GG genotype, individuals carrying rs11045689 AA genotype performed worse PFS and OS, with the HR (95% CI) for progression being 1.39 (1.11~1.75) and the HR (95% CI) for death being 1.38 (1.04~1.83). Compared with individuals carrying the rs73241801 CC genotype, individuals carrying rs73241801 TT genotype performed better OS (P=0.041), with the HR (95% CI) for death being 0.65 (0.44~0.94). The number of risk allele was significantly associated with PFS (P=0.012) and OS (P=0.017) of BC patients by accumulation analysis. Compared with individuals carrying one or less than one risk allele, individuals carrying four risk alleles performed worse PFS and OS, with the HR (95% CI) for progression being 1.37 (1.09~1.72) and the HR (95% CI) for death being 1.36 (1.02~1.81). Conclusion The variations of rs11045689 and rs73241801 in SLCO1B3 gene were significantly associated with prognosis of BC patients treated with neoadjuvant chemotherapy of TA regimen, which might serve as biomarkers for predicting prognosis of BC patients treated with neoadjuvant chemotherapy.

Objective To assess the association of single nucleotide polymorphisms ( SNPs) in SLCO1B3 gene with prognosis of breast cancer (BC) patients treated with neoadjuvant chemotherapy of TA regimen (taxane and antharcycline drugs). Methods 439 female BC patients were recruited and treated with neoadjuvant chemotherapy of TA regimen.A blood sample (2 ml) of peripheral blood was collected from each patient before chemotherapy. Tagging SNPs (tag?SNPs) were selected. We investigated the association of tag?SNPs with prognosis, by Sequenom Mass ARRAY system platform, characterizing tag?SNPs. The hazard ratio ( HR ) and 95% confidence interval ( CI ) for progression or death were calculated by multivariable?adjusted Cox regression model. Results Seven tag?SNPs ( rs11045689, rs200104106, rs3764006, rs3834935, rs4149117, rs7305323 and rs73241801) were selected for study. Compared with individuals carrying the rs11045689 GG genotype, individuals carrying rs11045689 AA genotype performed worse PFS and OS, with the HR (95% CI) for progression being 1.39 (1.11～1.75) and the HR (95% CI) for death being 1.38 ( 1.04～1.83). Compared with individuals carrying the rs73241801 CC genotype, individuals carrying rs73241801 TT genotype performed better OS (P＝0.041), with the HR (95% CI) for death being 0.65 (0.44～0.94). The number of risk allele was significantly associated with PFS (P＝0.012) and OS (P＝0.017) of BC patients by accumulation analysis. Compared with individuals carrying one or less than one risk allele, individuals carrying four risk alleles performed worse PFS and OS, with the HR (95%CI) for progression being 1.37 (1.09～1.72) and the HR ( 95% CI) for death being 1.36 (1.02～1.81). Conclusion The variations of rs11045689 and rs73241801 in SLCO1B3 gene were significantly associated with prognosis of BC patients treated with neoadjuvant chemotherapy of TA regimen, which might serve as biomarkers for predicting prognosis of BC patients treated with neoadjuvant chemotherapy.

Objective To assess the association of single nucleotide polymorphisms ( SNPs) in SLCO1B3 gene with prognosis of breast cancer (BC) patients treated with neoadjuvant chemotherapy of TA regimen (taxane and antharcycline drugs). Methods 439 female BC patients were recruited and treated with neoadjuvant chemotherapy of TA regimen.A blood sample (2 ml) of peripheral blood was collected from each patient before chemotherapy. Tagging SNPs (tag?SNPs) were selected. We investigated the association of tag?SNPs with prognosis, by Sequenom Mass ARRAY system platform, characterizing tag?SNPs. The hazard ratio ( HR ) and 95% confidence interval ( CI ) for progression or death were calculated by multivariable?adjusted Cox regression model. Results Seven tag?SNPs ( rs11045689, rs200104106, rs3764006, rs3834935, rs4149117, rs7305323 and rs73241801) were selected for study. Compared with individuals carrying the rs11045689 GG genotype, individuals carrying rs11045689 AA genotype performed worse PFS and OS, with the HR (95% CI) for progression being 1.39 (1.11～1.75) and the HR (95% CI) for death being 1.38 ( 1.04～1.83). Compared with individuals carrying the rs73241801 CC genotype, individuals carrying rs73241801 TT genotype performed better OS (P＝0.041), with the HR (95% CI) for death being 0.65 (0.44～0.94). The number of risk allele was significantly associated with PFS (P＝0.012) and OS (P＝0.017) of BC patients by accumulation analysis. Compared with individuals carrying one or less than one risk allele, individuals carrying four risk alleles performed worse PFS and OS, with the HR (95%CI) for progression being 1.37 (1.09～1.72) and the HR ( 95% CI) for death being 1.36 (1.02～1.81). Conclusion The variations of rs11045689 and rs73241801 in SLCO1B3 gene were significantly associated with prognosis of BC patients treated with neoadjuvant chemotherapy of TA regimen, which might serve as biomarkers for predicting prognosis of BC patients treated with neoadjuvant chemotherapy.

Objective To evaluate the diagnostic value of related contrast material(Rel.CM)of the dual-energy CT (DECT) virtual noncalcium (VNCa) for detecting acute traumatic bone marrow edema in knee joint.Methods A total of 17 patients(18 knees)with definite trauma history and knee joint disorders were prospectively enrolled. Conventional CT, VNCa and MRI images were obtained by MRI and DECT scan. Each knee was divided into 12 regions, respectively, to observe the performance of MRI and VNCa images. The diagnostic efficacy of different Rel. CM values (1.25, 1.45, 1.75) was analyzed for the knee traumatic bone marrow edema,select the best Rel.CM value.And the CT values of bone marrow and bone marrow damage were measured on VNCa of the optimal Rel. CM parameters. Using ROC to evaluate the efficacy of VNCa in different Rel.CM values for diagnosing traumatic bone marrow edema,the difference of CT value between bone marrow lesion and bone marrow in normal region of bone marrow was obtained by using rank sum test. Results DECT and MRI were performed in 17 patients (18 knees). Eighteen knees were divided into 216 areas.MRI showed 94 areas of bone marrow edema,including 35 in distal portion of femur, 59 in proximal tibia. Rel.CM values of 1.25, 1.45, 1.75 of the VNCa map were used to diagnose traumatic bone marrow edema in the knee with the area under the ROC curve of 0.643, 0.871, 0.656, respectively. Rel.CM with 1.45 VNCa diagram was the most accurate. The CT values of the bone marrow edema region and the normal region were -64.3(-20.6 to-90.8)HU,-93.4(-70.5 to-120.7)HU, respectively, on the VNCa graph with the optimal Rel.CM parameters (1.45) (Z=-8.270, P<0.05). Conclusions The VNCa image with a Rel.CM value of 1.45 has a better diagnostic performance for traumatic bone marrow edema in knee joint. CT value measurement in VNCa image can be used for quantitative analysis of traumatic bone marrow edema.

Objective: To explore the associations between genetic variations of glutathione synthetase gene (GSS) and response to platinum-based chemotherapy of small cell lung cancer(SCLC), and to analyze the influencing factors on survival. Methods: Four haplotype-tagging single nucleotide polymorphisms (htSNPs) of GSS were genotyped by Sequenom MassARRAY methods in 903 SCLC patients who received platinum-based chemotherapy, and had different response and survival time. The associations between genotypes and platinum-based chemotherapy response were measured by odds ratios (OR) and 95% confidence intervals (CI), adjusted for sex, age, smoking, KPS, staging and chemotherapy regiments, by unconditional logistic regression model. The hazard ratios (HR) were estimated by Cox proportional hazards regression model. Results: Among the 903 patients, 462(51.2%) cases received cis-platinum and etoposide treatment while others were treated with carboplatin and etoposide. 656 patients were chemotherapy responders in the study with a response rate of 72.6%. Patients were followed up to get their survival information. The median survival time (MST) of these patients was 25.0 months.We found that rs725521 located in the 3′ near gene region of GSS was significantly associated with chemotherapy response. Compared with the T allele, patients with C allele had a worse chemotherapy response and an increased risk of no-responders (P=0.027). Rs7265992 and rs725521 of GSS were associated with the overall survival (OS) of SCLC patients who received platinum-based chemotherapy (HR=1.16, 95% CI=1.02-1.33, P=0.027; HR=1.17, 95% CI=1.05-1.31, P=0.006, respectively). The patients carrying 1 or 2 risk alleles and the patients carrying 3 or 4 risk alleles had worse MST than the patients without the rs7265992A and rs725521C risk alleles (24.0 and 22.0 versus 30.0 months), with the HR for death being 1.26 (95% CI=1.04-1.54) and with the HR of 1.52 (95%CI=1.18-1.97, P=0.001). Rs2025096 and rs2273684 were not associated with the OS of SCLC patients who received platinum-based chemotherapy. Age ≤ 56, KPS> 80, limited-stage, chemotherapy response and radiation therapy had a remarkably prolonged OS (all P<0.05). Conclusions These results suggest that GSS genetic polymorphism rs725521 plays an important role in the response to platinum-based chemotherapy, while rs7265992 and rs725521 have important effect on the prognosis of SCLC patients, which may be potential genetic biomarkers for personalized treatment of SCLC.

Objective To analyze the characteristics of multi-b-value diffusion weighted imaging (DWI) of the normal cervical, cervical cancer and cervical intraepithelial neoplasia(CIN Ⅲ),and to assess the value of DWI in diagnosis and pathological staging for cervical cancer.Methods There were 54 patients with pathologically confirmed cervical cancer,including 36 squamous cell carcinoma,15 adenomatous carcinoma, and 3 neuroendocrine carcinoma.And other 9 patients with CIN Ⅲ were involved in the study.All patients underwent conventional MR scan with multi-b-value DWI sequence.The apparent diffusion coefficient (ADC) values of multi-b-value DWI were compared between normal cervical tissue and cervical cancer with its different pathology subtypes.Results The three normal structure of uterine cervix, including cervical endometrial, junctional zone and myometrium, can be clearly distinguished by different b-value DWI, with a statistical difference of ADC value (P<0.05).Further analysis showed that the average ADC values between normal cervix and cervical cancer had a statistical difference (P<0.05).The similar situation was presented among squamous cell carcinoma, adenomatous carcinoma, neuroendocrine carcinoma and CIN Ⅲ(P<0.05).Conclusion The ADC values of multi-b-value DWI could be helpful to diagnose cervical cancer and CIN Ⅲ,and it is correlated with the pathological type of cervical cancer.The application of multi-b-value DWI to cervical cancer and CIN Ⅲ could increase the accuracy of diagnosis.

Objective To evaluate the feasibility of T2 *mapping T2 *value combined with DWI ADC value in quantitative assessment of the activity of sacroiliitis.Methods 30 patients diagnosed with ankylosing spondylitis (AS)were divided into 2 groups as acute group (n=17)and chronic group (n=13)according to the BASDAI scores of the clinical severity of disease.And 20 healthy adults were recruited as control group.All groups were examined by MR with traditional sequence,T2 *mapping and DWI in the sacroiliac joint.The T2 *value and ADC value of the bone marrow edema region and normal region were measured.Furthermore,the imaging data and the clinical scores were statistical analysis and compared among three groups.Results T2 *values and ADC values in acute group of AS patients were higher than chronic group (P<0.05),as well as compared with healthy volunteers (P<0.05).There was no statistically significant difference between the chronic group of AS patients and control group (P>0.05).Positive correlation between ADC value and BASDAI was observed in patients group.Conclusion T2 *mapping combined with DWI imaging in AS is beneficial for early diagnosis and quantitative analysis of the activity of sacroiliitis.