Objective To discusse the application effects of the informatization of the review center and the homogeneity of pharmacists on the rationality of emergency department prescriptions.Methods Based on the system rules of the rational drug use management system and manually set custom rules,the changes in pharmacist's review quality,efficiency homogeneity,and prescription rationality were compared before(February 2023 to July 2023)and after(August 2023 to January 2024)the construction of the review center,according to the informatization and process standardization management.Results After the establishment of the review center,analysis of variance showed that the approval rate of pharmacist's review significantly increased compared to before the establishment of the review center(P＜0.05),while the average time consumption increased significantly(P＜0.01).The average review time,average approval time,and average review return time have been extended from(4.50±0.58),(4.50±0.58),and(4.75±0.96)s to(11.67±1.03),(8.50±0.55)and(13.17±0.98)s,respectively.The trend chi-square test showed that the irrationality rate of emergency department prescriptions decreased monthly from 6.27％in August 2023 to 0.93％in January 2024(P＜0.01).Correlation analysis between the number of intervention system rules since the establishment of the review center and the irrationality rate of emergency department prescriptions revealed a significant correlation(P=0.004 4).Conclusions By utilizing the platform of the review center,establishing dedicated review pharmacists and an information pharmacist team,and implementing informatization and standardized management processes,it can contribute to improving the quality and efficiency of prescription review,increasing the qualification rate of prescriptions,ensuring rational drug use,and enhancing the management level and medical quality of hospitals.

Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.

Background and purpose:Approximately 30%of patients with metastatic colorectal cancer(CRC)develops pulmonary metastasis,yet less than 10%are eligible for surgical resection.Radiofrequency ablation(RFA)serves as an alternative therapy for non-surgical candidates,but the relationship between its efficacy and tumor diameter remains controversial.This study aimed to investigate the impact of tumor size on survival outcomes and local progression risk in CRC patients with pulmonary metastasis after RFA,and to validate the clinical utility of a 3 cm threshold for prognosis.Methods:This retrospective study included CRC patients with pulmonary metastasis who underwent RFA at Fudan University Shanghai Cancer Center between January 2016 and December 2024.Patients were stratified into two groups based on maximum lesion diameter:≤3 cm(Small group)and 3-5 cm(Large group).Patient inclusion criteria:⑴ pathologically confirmed lung metastases originating from CRC,with metastases limited to the lungs or extra-pulmonary metastatic lesions having been radically treated;⑵ maximum lesion diameter<5 cm;⑶complete clinical data available;⑷ complete imaging data available,including computed tomography(CT)images during ablation and contrast-enhanced CT images during postoperative follow-up;⑸ follow-up time of at least＞6 months after RFA;⑹ technical complete ablation;⑺ fewer than 3 pulmonary metastatic lesions.Exclusion criteria:⑴ target lesions previously treated with local therapies such as RFA or radiotherapy;⑵ patients unable to tolerate RFA;⑶ patients with follow-up time＜6 months after RFA.Three senior interventional physicians performed percutaneous RFA under guidance of a 64-slice spiral CT scanner.Chest contrast-enhanced CT scans obtained 1 month after RFA were used as the baseline,followed by contrast-enhanced CT scans every 3 months for 1 year,then every 6 months for subsequent follow-up.This study was approved by the medical ethics committee of Fudan University Shanghai Cancer Center(ethical approval number:2108241-11).Primary endpoints included overall survival(OS),progression-free survival(PFS),and local tumor progression(LTP).Kaplan-Meier analysis and multivariate COX regression were employed to evaluate the independent prognostic value of tumor size.Results:A total of 134 patients who met the inclusion criteria were ultimately enrolled,including 77 in the Small group and 57 in the Large group.With a median follow-up of 35 months,the≤3 cm group demonstrated superior 1-,3-,and 5-year OS rates(100.0%,95.1%,74.2%)compared to the 3-5 cm group(94.7%,36.8%,27.0%,P＜0.0001),and the≤3 cm group demonstrated superior 1-,3-,and 5-year PFS rates(90.9%,34.4%,23.3%)compared to the 3-5 cm group(13.8%,0.0%,0.0%,P＜0.000 1).The≤3 cm group also exhibited significantly lower 1-,3-,and 5-year LTP rates(0.0%,19.7%,33.6%)compared to the 3-5 cm group(46.0%,75.5%,75.5%,P＜0.000 1).Multivariable analysis identified tumor diameter＞3 cm as an independent predictor of worse OS[hazard ratio(HR)=6.49,95%CI:3.18-13.24,P＜0.001],while elevated preoperative carcinoembryonic antigen(CEA)(≥5 ng/mL)correlated with shorter OS(HR=1.82,P=0.033).Conclusion:CRC patients with pulmonary metastasis and tumor diameters of 3-5 cm exhibited significantly inferior survival outcomes after RFA compared to the≤3 cm group.A tumor diameter of 3 cm can serve as a critical threshold for selecting RFA indications,and combining preoperative CEA levels can optimize patient stratification.

Background and purpose:Approximately 30%of patients with metastatic colorectal cancer(CRC)develops pulmonary metastasis,yet less than 10%are eligible for surgical resection.Radiofrequency ablation(RFA)serves as an alternative therapy for non-surgical candidates,but the relationship between its efficacy and tumor diameter remains controversial.This study aimed to investigate the impact of tumor size on survival outcomes and local progression risk in CRC patients with pulmonary metastasis after RFA,and to validate the clinical utility of a 3 cm threshold for prognosis.Methods:This retrospective study included CRC patients with pulmonary metastasis who underwent RFA at Fudan University Shanghai Cancer Center between January 2016 and December 2024.Patients were stratified into two groups based on maximum lesion diameter:≤3 cm(Small group)and 3-5 cm(Large group).Patient inclusion criteria:⑴ pathologically confirmed lung metastases originating from CRC,with metastases limited to the lungs or extra-pulmonary metastatic lesions having been radically treated;⑵ maximum lesion diameter<5 cm;⑶complete clinical data available;⑷ complete imaging data available,including computed tomography(CT)images during ablation and contrast-enhanced CT images during postoperative follow-up;⑸ follow-up time of at least＞6 months after RFA;⑹ technical complete ablation;⑺ fewer than 3 pulmonary metastatic lesions.Exclusion criteria:⑴ target lesions previously treated with local therapies such as RFA or radiotherapy;⑵ patients unable to tolerate RFA;⑶ patients with follow-up time＜6 months after RFA.Three senior interventional physicians performed percutaneous RFA under guidance of a 64-slice spiral CT scanner.Chest contrast-enhanced CT scans obtained 1 month after RFA were used as the baseline,followed by contrast-enhanced CT scans every 3 months for 1 year,then every 6 months for subsequent follow-up.This study was approved by the medical ethics committee of Fudan University Shanghai Cancer Center(ethical approval number:2108241-11).Primary endpoints included overall survival(OS),progression-free survival(PFS),and local tumor progression(LTP).Kaplan-Meier analysis and multivariate COX regression were employed to evaluate the independent prognostic value of tumor size.Results:A total of 134 patients who met the inclusion criteria were ultimately enrolled,including 77 in the Small group and 57 in the Large group.With a median follow-up of 35 months,the≤3 cm group demonstrated superior 1-,3-,and 5-year OS rates(100.0%,95.1%,74.2%)compared to the 3-5 cm group(94.7%,36.8%,27.0%,P＜0.0001),and the≤3 cm group demonstrated superior 1-,3-,and 5-year PFS rates(90.9%,34.4%,23.3%)compared to the 3-5 cm group(13.8%,0.0%,0.0%,P＜0.000 1).The≤3 cm group also exhibited significantly lower 1-,3-,and 5-year LTP rates(0.0%,19.7%,33.6%)compared to the 3-5 cm group(46.0%,75.5%,75.5%,P＜0.000 1).Multivariable analysis identified tumor diameter＞3 cm as an independent predictor of worse OS[hazard ratio(HR)=6.49,95%CI:3.18-13.24,P＜0.001],while elevated preoperative carcinoembryonic antigen(CEA)(≥5 ng/mL)correlated with shorter OS(HR=1.82,P=0.033).Conclusion:CRC patients with pulmonary metastasis and tumor diameters of 3-5 cm exhibited significantly inferior survival outcomes after RFA compared to the≤3 cm group.A tumor diameter of 3 cm can serve as a critical threshold for selecting RFA indications,and combining preoperative CEA levels can optimize patient stratification.

Objective To discusse the application effects of the informatization of the review center and the homogeneity of pharmacists on the rationality of emergency department prescriptions.Methods Based on the system rules of the rational drug use management system and manually set custom rules,the changes in pharmacist's review quality,efficiency homogeneity,and prescription rationality were compared before(February 2023 to July 2023)and after(August 2023 to January 2024)the construction of the review center,according to the informatization and process standardization management.Results After the establishment of the review center,analysis of variance showed that the approval rate of pharmacist's review significantly increased compared to before the establishment of the review center(P＜0.05),while the average time consumption increased significantly(P＜0.01).The average review time,average approval time,and average review return time have been extended from(4.50±0.58),(4.50±0.58),and(4.75±0.96)s to(11.67±1.03),(8.50±0.55)and(13.17±0.98)s,respectively.The trend chi-square test showed that the irrationality rate of emergency department prescriptions decreased monthly from 6.27％in August 2023 to 0.93％in January 2024(P＜0.01).Correlation analysis between the number of intervention system rules since the establishment of the review center and the irrationality rate of emergency department prescriptions revealed a significant correlation(P=0.004 4).Conclusions By utilizing the platform of the review center,establishing dedicated review pharmacists and an information pharmacist team,and implementing informatization and standardized management processes,it can contribute to improving the quality and efficiency of prescription review,increasing the qualification rate of prescriptions,ensuring rational drug use,and enhancing the management level and medical quality of hospitals.

Objective:To explore the changes of atlantoaxial joint spaces and pharyngeal airway after combined orthodontic-orthognathic treatment in skeletal class Ⅲ patients with mandibular deviation.Methods:A total of 34 adult skeletal class Ⅲ patients (10 males and 24 females) with mandibular deviation who received combined orthodontic-orthognathic treatment at the Department of Orthodontics and the Department of Orthognathic Surgery in the Stomatological Hospital of Chongqing Medical University from August 2014 to October 2021 were retrospectively selected. The patients were 22 (5) years old (18-33 years). Cone-beam CT data of patients taken before treatment (T0), after preoperative orthodontics (T1), and 6 to 12 months after orthognathic surgery (T2) were collected. The anterior atlanto-dental interval (ADI), variance of bilateral lateral atlanto-dental interval (VBLADI), the anterior posterior length (APL), maximum transverse width (LTW), aspect ratio (L/W), cross-sectional area (CSA) of each airway cross-section, the airway volumes, as well as the positions of the maxillofacial landmark points [subspinale (point A), supramental (point B), posterior nasal spine (point PNS), the most anterior and superior point of the hyoid bone (point H)] were measured at different time points. The correlations between airway changes, maxillofacial movements as well as the changes in the atlantoaxial joint spaces were also analyzed.Results:During the combined orthodontic-orthognathic treatment, no statistically significant differences were found in the ADI and VBLADI among different treatment time points (all P>0.05). After preoperative orthodontics, the volume of total airway increased from 20 868 (6 669) mm 3 to 21 302 (8 911) mm 3 ( P<0.05). After orthognathic surgery, there were no statistically significant differences in the APL, CSA of the PNS plane, the L/W of the uvula plane, and the nasopharyngeal airway volume compared with those after preoperative orthodontics (all P>0.05). The L/W of the PNS plane after surgery was significantly increased compared with that after preoperative orthodontics ( P<0.05), while other airway parameters were all significantly decreased compared with those after preoperative orthodontics (all P<0.05). Compared with before treatment, the nasopharyngeal airway volume after surgery [6 186 (1 707) mm3] increased significantly ( P<0.05) and the palatopharyngeal airway volume [8 145 (2 594) mm3] and the glossopharyngeal airway volume [5 605 (4 395) mm3] decreased significantly (all P<0.05). There was no statistically significant difference in the total airway volume between after surgery and before treatment ( P>0.05). Correlation analysis showed that after preoperative orthodontics, the amount of the sagittal movement of point B was moderately positively correlated with the total airway volume change ( r=0.40, P=0.022). Before and after orthognathic surgery, the amount of the sagittal movement of point PNS was moderately positively correlated with the changes in the palatopharyngeal airway volume and the total airway volume ( r=0.43, P=0.015; r=0.46, P=0.008). In addition, the change in VBLADI before and after orthognathic surgery was weakly positively correlated with the changes in the CSA of the PNS plane and the APL of the uvula plane ( r=0.35, P=0.029; r=0.38, P=0.016). Conclusions:During the combined orthodontic-orthognathic treatment, the anterior atlanto-dental interval in skeletal class Ⅲ patients with mandibular deviation remained stable among different treatment time points. The total airway volume increased after preoperative orthodontics. After orthognathic surgery, the backward movement of the mandible tended to reduce the size of the pharyngeal airway, and the morphology of the glossopharyngeal airway tended to become more flattened. The changes in the pharyngeal airway dimensions were correlated with the maxillomandibular movements and the atlantoaxial joint space changes.

Objective To explore the potential causal relationship between occupational pneumoconiosis (hereinafter referred to as "pneumoconiosis") and five mental disorders (depression, bipolar disorder, schizophrenia, insomnia and anxiety) using the two-sample Mendelian randomization (MR) method. Methods Single nucleotide polymorphisms (SNPs) loci associated with pneumoconiosis and five mental disorders were screened from Genome-Wide Association Studies. Inverse variance weighting (IVW), weighted median (WM) and MR-Egger regression methods were used to evaluate the significance of the causal relationship between pneumoconiosis and five mental disorders. Sensitivity analysis was used to evaluate the accuracy and reliability of the research results. Results After matching data of pneumoconiosis and the five mental disorders, 16 SNPs were ultimately included as instrumental variables in this study. The result of MR analysis revealed a positive causal relationship between pneumoconiosis and both depression [IVW: odds ratio (OR) and 95% confidence interval (CI) was 1.017 (1.000-1.035), P<0.05] and bipolar disorder [IVW: OR(95%CI)was 1.046(1.009-1.083), P<0.05; WM: OR (95%CI) was 1.055(1.007-1.105), P<0.05]. Result of sensitivity analysis indicated there was no heterogeneity and horizontal pleiotropy in the above results. There was no causal association observed between pneumoconiosis and schizophrenia, insomnia, or anxiety disorders (all P>0.05). Conclusion This study provides genetic evidence supporting a positive causal relationship between pneumoconiosis and both depression and bipolar disorder.

OBJECTIVE To investigate the ameliorative effect of ursolic acid on skin inflammation in rats with allergic contact dermatitis （ACD）， and explore its mechanism of action based on the Notch1/hairy and enhancer of split 1 （Hes1） signaling pathway. METHODS The ACD model was established by skin application of 2， 4-dinitrochlorobenzene. Forty successfully modeled rats were randomly divided into model control group （MC group）， ursolic acid low-dose group （UA-L group， 50 mg/kg）， ursolic acid high-dose group （UA-H group， 100 mg/kg）， and ursolic acid high-dose+Notch1 activator group （UA-H+Jagged1 group， 100 mg/kg ursolic acid+50 ng/kg Jagged1）， with 10 rats in each group. Another 10 rats with only hair shedding were selected as the normal control group. Rats in the administration groups were given the corresponding dose of ursolic acid intragastrically or/and Jagged1 by intraperitoneal injection once a day for 14 consecutive days. Twenty-four hours after the last treatment， the skin inflammation status and dermatitis scores of rats in each group were detected. The levels of interleukin-6 （IL-6）， IL-17 and IL-10 in serum and skin tissue were detected by enzyme-linked immunosorbent assay. Hematoxylin-eosin staining was used to detect the pathological morphology of the skin tissue. Immunohistochemical staining and immunoblotting assay were used to detect the protein expressions of Notch1 and Hes1 in skin tissues. RESULTS Compared with the MC group， both the UA-L group and UA-H group exhibited significantly lower dermatitis scores， along with varying degrees of reduction in histopathological skin damage such as inflammatory cell infiltration. Additionally， the levels of IL-6 and IL-17 in serum and skin tissues were markedly decreased， while the levels of IL-10 were significantly increased in both groups； protein expressions of Notch1 and Hes1 were decreased significantly （P＜0.05）， and the improvements in the aforementioned indicators were more significant in the UA-H group （P＜0.05）. Jagged1 could significantly weaken the improvement effects of UA-H on the above indicators （P＜0.05）. CONCLUSIONS Ursolic acid may attenuate the expression of pro-inflammatory cytokines and enhance the expression of anti-inflammatory factors by blocking Notch1/Hes1 signaling pathway， thereby improving dermatitis symptoms in ACD rats.

Objective:To explore the changes of atlantoaxial joint spaces and pharyngeal airway after combined orthodontic-orthognathic treatment in skeletal class Ⅲ patients with mandibular deviation.Methods:A total of 34 adult skeletal class Ⅲ patients (10 males and 24 females) with mandibular deviation who received combined orthodontic-orthognathic treatment at the Department of Orthodontics and the Department of Orthognathic Surgery in the Stomatological Hospital of Chongqing Medical University from August 2014 to October 2021 were retrospectively selected. The patients were 22 (5) years old (18-33 years). Cone-beam CT data of patients taken before treatment (T0), after preoperative orthodontics (T1), and 6 to 12 months after orthognathic surgery (T2) were collected. The anterior atlanto-dental interval (ADI), variance of bilateral lateral atlanto-dental interval (VBLADI), the anterior posterior length (APL), maximum transverse width (LTW), aspect ratio (L/W), cross-sectional area (CSA) of each airway cross-section, the airway volumes, as well as the positions of the maxillofacial landmark points [subspinale (point A), supramental (point B), posterior nasal spine (point PNS), the most anterior and superior point of the hyoid bone (point H)] were measured at different time points. The correlations between airway changes, maxillofacial movements as well as the changes in the atlantoaxial joint spaces were also analyzed.Results:During the combined orthodontic-orthognathic treatment, no statistically significant differences were found in the ADI and VBLADI among different treatment time points (all P>0.05). After preoperative orthodontics, the volume of total airway increased from 20 868 (6 669) mm 3 to 21 302 (8 911) mm 3 ( P<0.05). After orthognathic surgery, there were no statistically significant differences in the APL, CSA of the PNS plane, the L/W of the uvula plane, and the nasopharyngeal airway volume compared with those after preoperative orthodontics (all P>0.05). The L/W of the PNS plane after surgery was significantly increased compared with that after preoperative orthodontics ( P<0.05), while other airway parameters were all significantly decreased compared with those after preoperative orthodontics (all P<0.05). Compared with before treatment, the nasopharyngeal airway volume after surgery [6 186 (1 707) mm3] increased significantly ( P<0.05) and the palatopharyngeal airway volume [8 145 (2 594) mm3] and the glossopharyngeal airway volume [5 605 (4 395) mm3] decreased significantly (all P<0.05). There was no statistically significant difference in the total airway volume between after surgery and before treatment ( P>0.05). Correlation analysis showed that after preoperative orthodontics, the amount of the sagittal movement of point B was moderately positively correlated with the total airway volume change ( r=0.40, P=0.022). Before and after orthognathic surgery, the amount of the sagittal movement of point PNS was moderately positively correlated with the changes in the palatopharyngeal airway volume and the total airway volume ( r=0.43, P=0.015; r=0.46, P=0.008). In addition, the change in VBLADI before and after orthognathic surgery was weakly positively correlated with the changes in the CSA of the PNS plane and the APL of the uvula plane ( r=0.35, P=0.029; r=0.38, P=0.016). Conclusions:During the combined orthodontic-orthognathic treatment, the anterior atlanto-dental interval in skeletal class Ⅲ patients with mandibular deviation remained stable among different treatment time points. The total airway volume increased after preoperative orthodontics. After orthognathic surgery, the backward movement of the mandible tended to reduce the size of the pharyngeal airway, and the morphology of the glossopharyngeal airway tended to become more flattened. The changes in the pharyngeal airway dimensions were correlated with the maxillomandibular movements and the atlantoaxial joint space changes.

Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.