Objective To investigate the karyotypes and the correlation of chromosomal abnormalities in the fetuses with increased nu-chal translucency(NT),so as to provide a basis for prenatal genetic counseling.Methods The clinical data of 386 singleton pregnant women with NT≥2.5mm who underwent invasive prenatal diagnosis at the First Affiliated Hospital of Nanjing Medical University from January 2018 to April 2022 were retrospectively analyzed.The fetuses were grouped according to NT thickness(2.5-3.4,3.5-3.9,4.0-4.9,5.0-5.9,and ≥6.0 mm),fetal ultrasound abnormalities(isolated increased NT,non-isolated increased NT),and maternal age(advanced age ≥35 years,non-advanced age＜35 years).The chi-square test was used to compare the differences of the incidence of fetal chromosomal abnormalities among various groups.Results Among the 386 fetuses with increased NT,chromosomal abnormalities were detected in 87 cases with an overall detection rate of 22.5％(87/386),including chromosomal numerical abnormalities accounted for 82.8％(72/87)and copy number variations(CNVs)accounted for 17.2％(15/87).The detection rates of chromosomal abnormal-ities and numerical abnormalities increased with NT thickness(P＜0.05),while no statistically significant difference of CNV abnormali-ty rates was found(P=0.41).The detection rates of chromosomal abnormalities(36.5％)and CNV abnormalities(14.1％)in the non-isolated increased NT group were significantly higher than those in the isolated increased NT group(18.6％and 1.0％,respective-ly,both P＜0.05).The detection rates of chromosomal abnormalities(34.7％)and numerical abnormalities(31.6％)in the fetuses of advanced maternal age mothers with increased NT were significantly higher than those in the non-advanced age group(18.4％and 14.2％,respectively,both P＜0.05).However,the difference of CNV abnormality rates between the two groups was not statistically sig-nificant(P=0.62).Conclusion The detection rate of fetal chromosomal abnormalities elevated with increased NT thickness.Ad-vanced maternal age and the presence of other ultrasound abnormalities were the high-risk factors for fetal chromosomal abnormalities.The risks of CNV abnormalities may not be significantly correlated with NT thickness or maternal age but associated with the presence of other ultrasound abnormalities.

Objective To explore the application values of different detection methods in monitoring the decline pattern of syphilis-spe-cific antibody in the non-congenital syphilis children.Methods A total of 80 non-congenital syphilis children were included in the study.The serum specimens were collected after birth,and the syphilis-specific antibodies were detected using electrochemilumines-cence immunoassay(ECLIA),western blotting(WB),treponema pallidum particle agglutination assay(TPPA),enzyme-linked im-munosorbent assay(ELISA),and toluidine red unheated serum test(TRUST).Follow-up was conducted every three months until the positive results of ELISA and TRUST turned to negative.Results The results of ECLIA showed that the syphilis-specific antibody lev-els in the non-congenital syphilis children declined to 25％of the level at birth within 2 to 3 months,and the rate of decline was inde-pendent of the initial concentration.WB analysis indicated that the specific IgG bands in non-congenital syphilis children at birth were consistent with those of their mother,and the sequence of specific antibodies decline was as follows:TPN47,TPN15,TPN45,and TPN17.Due to methodological limitations,the absorbance values of ELISA showed no significant change during the first three months after birth when high concentrations of antibodies were present in the samples,but it showed high sensitivity in the detection for the samples with low-concentration of syphilis antibodies.The detection rates of ECLIA,TPPA,and WB were compared by using ELISA as the reference method.At birth,the detection rates of syphilis antibodies were 100％,100％,and 90％,respectively.In 3 months after birth,the detection rates were 100％,100％,and 75％.In 6 months after birth,,they were 100％,46％,and 15％.In 9 months after birth,they were 83％,33％,and 0％.The positive rate of TRUST was 17.5％at birth.and turned to negative in 3 month of follow-up.Conclusion Syphilis specific IgG antibodies may fully transferred to the fetus and decline in a predictable pattern after birth.The comprehensive analysis for the results of the four methods suggested that dynamic detection using ECLIA method could be used to pre-dict the risk of non-congenital syphilis or terminate the follow-up at 3 months,while the seroconversion detected by WB was earlier than that by TPPA,while ELISA required the longest follow-up period.

Objective To explore the diagnostic value of the phenomenon of protein-cell separation in cerebrospinal fluid(CSF),as well as the single and combined detections of CSF immunoglobulin G(CSF-IgG),CSF albumin(CSF-ALB)and serum immunoglobu-lin G(S-IgG)for Guillain-Barre syndrome(GBS).Methods A retrospective analysis was conducted on the clinical data of 65 GBS patients(GBS group)and 65 patients with other neurological diseases(non-GBS group).CSF and serum samples were collected from both the groups to analyze the diagnostic efficacy of protein-cell separation phenomenon in CSF,as well as the single and combined de-tections of CSF-IgG,CSF-ALB,and serum-IgG(S-IgG)in GBS.Results CSF protein-cell separation phenomenon was observed in 60.00％(39/65)of GBS patients.Prodromal events were presented in 67.69％(44/65)of GBS patients,which mainly were upper re-spiratory tract infection(43.08％,28/65),digestive tract infection(9.23％,6/65),and herpetic virus infection(7.69％,5/65).The levels of CSF-IgG,CSF-ALB,and S-IgG in the GBS group were significantly higher than those in non-GBS group(P＜0.05).The areas under the ROC curves(AUCROC)for single CSF-IgG,CSF-ALB,S-IgG,protein-cell separation phenomenon IN CSF,and the combination of all the four parameters in diagnosis of GBS were 0.754,0.705,0.682,0.708,and 0.840,respectively.The diagnostic specificities were 87.7％,75.4％,87.7％,81.5％,and 96.9％,respectively.Conclusion Most of the GBS patients were found to have CSF protein-cell separation phenomenon and history of prodromal infection.CSF-IgG,CSF-ALB,S-IgG,and CSF protein-cell separation phenomenon exhibited independent diagnostic value for GBS.The combined detection of the four indicators could improve the diagnostic efficacy for GBS.

Objective To explore the application of the Laboratory Information System(LIS)in managing internal quality control(IQC)data of qualitative and semi-quantitative items in each professional group of the laboratories,providing front-end operation and back-end data support to achieve real-time effectiveness,easy operation,perfect functionality,and compliance with the quality control data management in various inspection standards.Methods Referring to the requirements for internal quality control(IQC)data man-agement of qualitative and semi-quantitative items in the health industry standard WS/T 806-2022"Basic technical standard for clini-cal hematology and body fluid analysis"and CNAS-CL02:2023"Accreditation criteria for the quality and competence of medical labora-tories",we developed the functions of IQC data management for qualitative and semi-quantitative items in LIS using PowerBuilder 12.5 development tools and tried to applied these functions in our laboratory.Results The management module for IQC data of qualitative and semi-quantitative items developed in LIS consisted of three parts:"IQC Parameter Setting","IQC and Comparison Data",and"IQC Monthly Summary".In accordance with the routine laboratory operation process,the developed management modules implemented the following functions,such as IQC parameters setting,IQC data in-control ranges setting,automatic judgment of out-of-control data,online filling of out-of-control reports,IQC monthly summary reports template setting,and generating IQC monthly summary reports.The developed module has been applied to qualitative and semi-quantitative items in various professional groups of clinical laboratories in multiple districts of the hospital,such as urinalysis for dry chemical parameters,blood type testing,fecal occult blood test,etc.The module has operated stably and achieves homogeneous management of IQC for multiple districts and multiple test items.Conclusion The developed IQC data management function for qualitative and semi-quantitative items in LIS exhibited a user-friendly interface and performance of easy operation.The generated quality control charts and monthly summary reports have been completed in content and complied with industry standards and ISO 15189 accreditation requirements.It can well meet the management needs of various profes-sional groups for IQC of qualitative and semi-quantitative items in the daily work of medical laboratories setting a good foundation for continuous improvement of intelligent management of clinical laboratory information.The design ideas and application models presented certain reference value.

Objective To understand and evaluate the overall status of nucleic acid detection efficacy for influenza A virus in the na-tionwide clinical laboratories of China,and discover and identify the potential issues to further improve the detection quality.Methods During 2024,the National Center for Clinical Laboratories distributed five samples to nationwide 1 367 participating laboratories.The detection efficacy of each participating laboratory was evaluated by calculating the overall percent agreement(OPA)of the test results using different detection reagents.Results The results of OPA,positive percent agreement(PPA)and negative percent agreement(NPA)of the five samples were 99.87％(6 826/6 835),99.89％(5 462/5 468),and 99.78％(1 364/1 367),respectively.No statistical difference of PPAs was observed between the H3N2 samples with different concentrations,between H1N1(2009)and H3N2 samples with equivalent concentration(1.0×104 copies/mL),and between seasonal H1N1 and H3N2 samples with equivalent concen-tration(1.0×105 copies/mL)(P＞0.05).Conclusion The results indicated the clinical laboratories in China exhibited robust efficacy in the molecular detection for two prevalent influenza A virus subtypes,i.e.,H1N1(2009)and H3N2.However,false-negative and false-positive results were encountered in a few laboratories.

Objective To identify the key differentially expressed genes in the patients with lupus nephritis(LN)using bioinformatics methods and discover potential diagnostic biomarkers of LN for exploring the pathogenic mechanisms of LN.Methods The GSE99339 dataset related to chronic kidney disease was obtained from the Gene Expression Omnibus(GEO)database.Weighted gene co-expres-sion network analysis(WGCNA)was performed to identify the core modules highly correlated with LN.The differentially expressed genes(DEGs)between the two groups(32 LN patients and 14 healthy controls)from GSE32591 dataset were identified using Limma package.The intersection of DEGs and the LN-related module genes was obtained.The Gene Ontology(GO)function annotation and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analyses of intersection genes were conducted using DAVID online tool to construct protein-protein interaction(PPI)network,and the key genes were screened using Cytoscape software.Boxplots and receiver operating characteristic(ROC)curves were generated to evaluate the diagnostic efficiency of the key genes based on the the gene expression data of GSE112943 validation dataset.Results The greenyellow module(102 genes)was strongly correlated with LN(r=0.85,P＜0.01).A total of 361 DEGs were identified from GSE32591 dataset,among which 53 genes were found to intersect with the green-yellow module genes.The LN-related genes were mainly enriched in the biological processes and pathways which related to antiviral response,innate immunity,hepatitis C,and influenza A virus.The top five key genes in the PPI network were IFIT3,MX1,OAS1,RSAD2,and OAS3.The expression levels of 1FIT3,MX1,OAS1 and RSAD2 in LN were significantly different from con-trol groups(P＜0.05).ROC curve analysis showed that the AUC values for the four genes in predicting LN were all greater than 0.8,indicating high diagnostic efficiency.Conclusion IFIT3,MX1,OAS1 and RSAD2 may be the key differentially expressed genes in LN and may be potential diagnostic biomarkers and therapeutic targets for LN.

Objective To establish the preliminary reference intervals for the percentage and fluorescence intensity ratio(FIR)for 12 platelet-leukocyte aggregates(PLAs)in peripheral blood circulation.Methods A total of 124 healthy individuals(61 males and 63 females)aged 18-90 years were selected from Beijing Jishuitan Hospital.Venous blood samples were collected in EDTA-K2 tubes for anticoagulation,and flow cytometry was used to measure the percentage and FIR of 12 types of PLAs.All the participants were grouped by gender for comparative analysis.Reference intervals for each parameter were calculated according to the WS/T 402-2024 standard.Results The percentages of platelet-T lymphocyte aggregates,platelet-CD4+T lymphocyte aggregates,and platelet-CD8+T lymphocyte aggregates in males were significantly lower than those in females(all P＜0.05).The FIRs of platelet-T lymphocyte aggregates,platelet CD8+T lymphocyte aggregates,platelet-B lymphocyte aggregates,and platelet-NK cell aggregates in males were significantly higher than those in females(all P＜0.05).Conclusion The preliminary reference intervals for the percentage and FIR of 12 types of PLAs in healthy adults have been established.Different gender may influence the detection results of platelet-leukocyte aggregates,especially platelet-lymphocyte aggregates,and the corresponding FIR values in healthy adults.Further large-scale studies should be necessary to confirm these findings.

Objective To perform the identification at the subspecies-level of Mycobacterium abscessus(M.abscessus)and analyze its characteristics based on matrix-assisted laser desorption ionization time-of-flight mass spectrometry(MALDI-TOF MS).Methods Bi-otyper software was used to construct the predicted peak spectrum of M.abscessus subsp.abscessus and M.abscessus subsp.massiliense.The predicted peak spectrum was constructed with expected maximum peak value number of 70 and peak frequency of 100％in the ex-perimental group and control group,respectively.A blind test was performed on 31 strains of M.abscessus that were not used to con-struct predictive peak spectra to evaluate the identification efficiency of predictive peak spectra.FlexAnalysis software was used to sum-marize and analyze the list of mass spectral peak value of M.abscessus,and screen the specific peaks in mass spectra of different sub-species of M.abscessus.The principal component analysis(PCA)algorithm was used to perform the cluster analysis for the data from mass spectrometry of M.abscessus,and explore the feasibility of PCA clustering in distinguishing the subspecies of M.abscessus.Results In the experimental group,96.8％(30/31)of the strains were correctly identified,and one strain of M.abscessus subsp.massiliense with rough colony form was mistakenly identified as M.abscessus subsp.abscessus.In control group,77.4％(24/31)of the strains were correctly identified,but 7 strains of M.abscessus subsp.massiliense were incorrectly identified or unable to be identified.The identification efficiency in the experimental group was significantly better than that in the control group with statistical difference(X2=5.167,P=0.026).M.abscessus subsp.abscessus exhibited three specific peaks(m/z 4 001.67,4 386.81 and 4 963.17),and M.abscessus subsp.massiliense also exhibited three specific peaks(m/z 4 950.48,4 381.78 and 5 214.90).In the PCA 3D scatter plot,the data points of M.abscessus subsp.abscessus and M.abscessus subsp.massiliense were relatively dispersed without obvious clus-tering.The PC A dendrograph could be divided into six branches in which only four branches were composed of a single subspecies.The minimum level value of distance between M.abscessus subsp.abscessus and M.abscessus subsp.massiliense was about 0.1.Conclusion The predicted peak spectrum based on MALDI-TOF MS with the expected maximum peak number of 70 could accurately identify M.abscessus at the subspecies level.The specific peak of mass spectrometry method in this study should be feasible to distinguish the subspecies of M.abscessus subsp.abscessus and the subspecies of M.abscessus subsp.Massiliense,but PCA cluster analysis cannot be used as a means to distinguish M.abscessus subsp.abscessus from M.abscessus subsp.massiliense.

Objective To analyse phenotype and genetic variation of two congenital hypodysfibrinogenemia(Fg)caused by compound heterozygous variants and preliminary investigate their molecular pathogenic mechanisms.Metheds The proband A and B and their family members(a total of 19 members in 3 generations)who visited the First Hospital of Wenzhou Medical University on 4 May 2023 and 20 May 2023 for"parkinson's disease"and"pre-bilateral eyelid excision"were enrolled for the study.Prothrombin time(TT)and fibrinogen(Fg)activity were measured by coagulation assay and Fg antigen(Fg∶Ag)was measured by immunoturbidimetric assay for the two family members,and Fg aggregation assay was catalysed using human thrombin.FGG gene was amplified by PCR and se-quenced directly.The variant sites were analysed using Chromas software.Multiple sequence comparison was performed by ClustalX-2.1-win software.Pathogenicity analysis of the variant sites was performed using bioinformatics software.The analysis for FGG protein model was performed using PyMOL software.Results Phenotypic results showed TT of proband A and B extended to 27.5 s and 26.1 s,and plasma Fg activity reduced to 0.6 g/L and＜0.5 g/L,respectively.Genetic sequencing identified heterozygous c.1129+62_65delAATA on intron 8 of FGG gene in the both probands,resulting in the formation of aberrant amino acids at p.γGly377-Gly388 and an early ter-mination codon at p.γTyr389 site.A heterozygous missense variant c.103C＞A(p.AαArg35Ser)was found in exon 2 of the FGA gene of proband A,and a heterozygous missense variant c.569A＞G(p.BβAsn190Ser)was found in exon 4 of the FGB gene of proband B.Compared to the control group,the both probands showed significant decreases in peak and rate of Fg aggregation.Multiple sequence comparison analyses showed that all the three variant sites were conserved.Three bioinformatics software predicted both the missense variants were pathogenic.Protein modelling analysis showed that the number of hydrogen bonds in p.γGly377-Gly388 variant region was altered,resulting in steric hinderance.Conclusion All the two types of compound heterozygous variants,i.e.,c.1129+62_65delAATA and p.AαArg35Ser,c.1129+62_65delAATA and p.BβAsn190Ser,have been reported for the first time in Chi-na and worldwide to date,and the three variants may be related to the reduced Fg level and function in the two pedigree.

Objective To understand the status of medical laboratories participating in external quality assessment(EQA)program in China.Methods The test covered by an EQA control rate and acceptable performance rate of theinformation collection and data analy-sis systems in the EQA program developed by National Center for Clinical Laboratories in medical laboratories of nationwide various re-gions were evaluated descriptively and analyzed statistically.Forty analytes in various disciplines were selected to analyze statistically the implementation of the testing items and participation retes of EQA program.Results The number of medical laboratories participat-ing in EQA program increased yearly from 592 in 2019 to 1 169 in 2023.The nationwide median test covered by an EQA control rate and acceptable performance rate of EQA program reached over 91％and 98％,respectively.In 2023,the median test covered by an EQA control rate of EQA program in the medical laboratories of nationwide regions showed that the median test covered by an EQA con-trol rate reached 100％in Gansu and Hainan regions,and the medians of acceptable performance rate reached 100％in Beijing,Guangdong,Hubei,Jiangsu,Shandong,Shanxi,Shanghai,Tianjin,Xinjiang,and Zhejiang regions.Among the 40 analytes,the test covered by an EQA control rate of only 6 EQA items were greater than 80％in nationwide medical laboratories,i.e.,rheumatoid factor,neonatal deafness gene detection,high throughput sequencing of peripheral fetal chromosome aneuploidy(T21,T18 and T13)by high throughput sequencing,thalassemia gene typing,hepatitis C virus RNA quantification,and EGFR gene mutation,and the acceptable performance rates of only 3 EQA items were 100％,i.e.,HbA2,urine microalbumin,and non-invasive prenatal testing(NIPT).Thir-ty-six analytes exhibited acceptable performance rate above of 80％,while that of troponin I was below 80％.Conclusion The medical laboratories in China should further increase their test covered by an EQA control rate and acceptable performance rate of EQA pro-gram,and consistantly improve testing quality by utilizing EQA programs adequately.