1.Assessment of the left ventricular systolic synchronization and global systolic function in patients with implantation of DDD mode cardiac pacemakers by real-time three-dimensional echocardiography
Lianzhong ZHANG ; Lin LIU ; Na ZHANG ; Shanling WANG ; Han ZHOU ; Minyan FAN ; Xiaolin BIAN
Chinese Journal of Ultrasonography 2009;18(4):291-293
Objective To assess the left ventricular synchronization and global systolic function in patients with implanted dual-chamber (DDD) mode cardiac pacemakers by real-time three-dimensional echocardiography(RT-3DE). Methods Left ventricular systolic synchronization and global function were evaluated in 20 patients with implanted DDD mode cardiac pacemakers and 20 normal people by RT-3DE. The left ventricular end-diastolic volume (LEDV), end-systolic volume ( LESV), stroke volume (SV), left ventricular ejection fraction (LVEF), the mean value of time from the start of electrocardiographic QRS wave to the point of minimal systolic volume (Tmean) of the 17 segments and those standard deviation(T-SD),the maximal difference of time among all 17 segments(Tmax) were obtained by RT-3DE. Results Compared with control group, LESV was significantly increased,SV, LVEF were significantly decreased and T-SD,Tmax were significantly prolonged (P <0.01 ). There were no differences in LEDV and Tmean between the two groups (P>0.05). In patients group,LVEF correlated closely with T-SD (r =-0.674, P<0.05) and Tmax (r = - 0. 634, P < 0. 05). Conclusions There were left ventrieular systolic asychronization and global systolic dysfunction in patients with implanted dual-chamber (DDD) mode cardiac pacemakers,which could be assessed by RT-3DE.
2.Analysis of pathogens distribution and drug resistances in neonatal blood cultures
Xingyan BIAN ; Hui ZHAO ; Zhenhong JIANG ; Xiaolin ZHANG ; Jinghui LIU ; Xiaoyan YANG
International Journal of Laboratory Medicine 2016;37(15):2096-2098,2101
Objective To investigate the pathogens distribution in neonatal blood culture and their drug resistance to antibacteri‐al drugs in Dalian City .Methods The routine blood culture ,identification and drug sensitivity test were carried out in the hospital‐ized neonates from August 2014 to August 2015 .And the obtained data were analyzed .Results A total of 186 strains of pathogenic bacteria were detected from 1 570 cases of neonatal blood culture and the positive rate was 11 .8% .Gram positive bacteria accounted for 74 .2% (138/186) and were dominated by Staphylococcus epidermidis .Gram negative bacteria accounted for 25 .3% (47/186) , which were mainly onion burkholderia bacterium .One strain was fungus ,accounting for 0 .5% .The drug sensitivity test results showed that Gram positive bacteria had the higher resistance rate to penicillin and erythromycin (80 .0% -90 .0% ) ,100 .0% sensi‐tivity to vancomycin ,linezolid and teicoplanin ;E .coli and K .pneumoniae had the highest resistance rate to ampicillin (88 .2% -100 .0% ) ,100 .0% sensitivity to imipenem ,amikacin ,low resistance rate to piperacillin/tazobactam ,cefoperazone/sulbactam ,amoxi‐cillin/clavulanic acid ,cefepime and ceftazidime (0% -10 .0% ) .The resistance rate of onion burkholderia bacterium to ticarcillin/clavulanate and meropenem was higher than 80 .0% ,which had 100 .0% sensitivity to cefoperazone /sulbactam ,levofloxacin ,mino‐cycline and compound sulfamethoxazole .Conclusion The neonatal blood culture pathogen in Dalian City is dominated by Gram pos‐itive bacteria ,coagulase negative staphylococcus is the main pathogen .Due to the different regional environmental ,pathogens and drug resistance should be regularly monitored and analyzed to provide objective and accurate basis for clinical rational use of anti‐bacterial drugs .
3.Comparative study on fetal ultrasonic diagnosis and pathological results of complex congenital heart diseases
Xiaohang ZHANG ; Xiaodong GE ; Rui LI ; Ping ZHANG ; Lingmin DUAN ; Yanli GUO ; Yafang XUE ; Xiaolin LI ; Shuhong GAO ; Xiuwu BIAN
Chinese Journal of Ultrasonography 2010;19(6):517-520
Objective To probe the diagnostic efficacy of fetal eehocardiography for characterizing complex congenital heart diseases.Methods Fetal echocardiography was performed on 49 cases of fetal complex congenital heart disease, the ultrasonic diagnosis was compared retrospectively with pathological results after autopsy.Results Antenatal sonographic diagnosis was in agreement with the pathological results in 42 cases (85.71 %), 7 cases were disagreed with pathological diagnosis (antenatal sonographic diagnosis was discrepancy in 3 cases, 4 cases were partially mis-classified).Twenty-four cases were combined with extra-cardiac malformations.Nine cases had chromosomal abnormality.Conclusions Fetal echocardiography is highly accurate for antenatal diagnosis of complex congenital heart disease, but it is hard to detect some type of cardiac anomalies.
4.Assessment of left ventricular systolic function using pressure-strain loop in patients with light-chain amyloidosis
Chunli LIU ; Yidan LI ; Xiaolin BIAN ; Yuanpeng ZHAI ; Yanke ZHOU ; Qian ZHANG ; Zhiwei WANG ; Rui LIU ; Qian LI
Chinese Journal of Ultrasonography 2021;30(7):598-603
Objective:To discuss the quantitative evaluation of left ventricular systolic function in patients with light-chain amyloidosis (AL) by pressure-strain loop (PSL).Methods:Forty-six patients with clinically diagnosed as AL in the Affiliated Tumor Hospital of Zhengzhou University from January 2018 to December 2020 were selected as case group, and they were divided into 2 groups according to whether the thickness of interventricular septum and posterior wall at end-diastole was >12 mm; ①cardiac amyloidosis (CA) group (21 cases, the thickness>12mm); ②non cardiac amyloidosis (NCA) group (25 cases, the thickness≤12 mm). Twenty five healthy volunteers were selected as control group at the same time. Routine echocardiography was performed in all subjects.Two-dimensional dynamic images of the left ventricular apical two-chamber, three-chamber, and four-chamber views were collected for three consecutive cardiac cycles using two-dimensional speckle-tracking. A tracing analysis was conducted and blood pressure was entered on the off-line Echo PAC 203 software, and the left ventricular global longitudinal strain (GLS), peak strain time dispersion(PSD), global myocardial work index (GWI), global constructive work (GCW), global wasted work (GWW) and global work efficiency (GWE) were obtained. The differences of GLS, PSD and myocardial work (GWI, GCW, GWW, GWE) parameters were compared between groups, and Pearson correlation was used to analyze the correlations.Results:①Routine echocardiography: Compared with the control group and NCA group, inter-ventricular septum thickness (IVST), left ventricle posterior wall thickness (LVPWT), left ventricular mass index (LVMI), left atrial diameter (LAD), and E/e′ in CA group were increased, while left ventricular ejection fraction (LVEF) was decreased; ②Compared with the control group, GLS, GWI, and GCW in NCA group were decreased, while there were no statistically differences in GWE, PSD, and GWW between the two groups (all P>0.05); Compared with the control group and NCA group, GLS, GWI, GCW, and GWE were obviously decreased, while PSD and GWW were obviously increased in CA group.③ Correlation analysis showed that: the absolute value of GLS was positively correlated with GWI, GCW and GWE ( r=0.654, 0.695, 0.788; all P<0.001), and negatively correlated with GWW, and PSD ( r=-0.710, -0.625; all P<0.001). Besides, PSD had negative correlation with GWI, GCW and GWE ( r=-0.754, -0.653, -0.702; all P<0.001), and positive correlation with GWW ( r=0.676, P<0.001). Conclusions:PSL can quantitatively evaluate the left ventricular systolic function of AL patients, while the myocardial work parameters are conducive to evaluate the degree of cardiac involvement in the course of AL patients.
5.The predictive value of cognitive impairment at 3 months after ischemic stroke
Yongming ZOU ; Rui SHU ; Na WANG ; Ji BIAN ; Xiaolin XU
Chinese Journal of Physical Medicine and Rehabilitation 2023;45(1):18-23
Objective:To explore the risk factors for cognitive impairment 3 months after an ischemic stroke and their predictive value.Methods:A retrospective case-control study considered the records of 856 elderly patients who had survived an ischemic stroke. All had been evaluated using the Montreal Cognitive Assessment scale (MoCA). They were divided according to their MoCA scores into a group without cognitive impairment (the PSNCI group) and an impaired (PSCI) group. The subjects′ demographic and clinical laboratory data were compiled. All had been assessed using the National Institutes of Health stroke scale (NIHSS), the Barthel Index (BI), and the Hamilton depression scale (HAMD). Univariate and multivariate logistic regressions were evaluated and a receiver operator characteristics (ROC) curve was computed.Results:There were significant differences between the two groups in terms of gender distribution, age, hypertension and heart disease history, family history of dementia and education level. Moreover, significant differences were observed in the groups′ average total cholesterol (TC), triglyceride (TG), high density lipoprotein (HDL), urinary neurofilament protein (AD7c-NTP), NIHSS scores, BIs and ADL scores. Logistic regression showed that a history of heart disease, urinary AD7C-NTP level and HAMD score were significant independent predictors of cognitive impairment 3 months after a stroke. A high BI was an independent protective factor. The area under the ROC curve for urinary AD7C-NTP was the largest (0.875) and had significant predictive value with a cut-off value of 2.43, sensitivity of 0.94 and specificity of 0.75.Conclusion:Age, sex, education, smoking, drinking, body mass index, a history of heart disease or stroke, a family history of dementia and elevated AD7C-NTP, TC or TG are risk factors for cognitive impairment after a stroke. A high BI suggests a better prognosis. Urinary AD7c-NTP is a useful predictor of PSCI 3 months after a stroke.
6.Ultrasensitive quantification of trace amines based on N-phosphorylation labeling chip 2D LC-QQQ/MS
Xiqing BIAN ; Yida ZHANG ; Na LI ; Menglin SHI ; Xiaolin CHEN ; Hui-Lu ZHANG ; Jie LIU ; Jian-Lin WU
Journal of Pharmaceutical Analysis 2023;13(3):315-322
Trace amines(TAs)are metabolically related to catecholamine and associated with cancer and neuro-logical disorders.Comprehensive measurement of TAs is essential for understanding pathological pro-cesses and providing proper drug intervention.However,the trace amounts and chemical instability of TAs challenge quantification.Here,diisopropyl phosphite coupled with chip two-dimensional(2D)liquid chromatography tandem triple-quadrupole mass spectrometry(LC-QQQ/MS)was developed to simul-taneously determine TAs and associated metabolites.The results showed that the sensitivities of TAs increased up to 5520 times compared with those using nonderivatized LC-QQQ/MS.This sensitive method was utilized to investigate their alterations in hepatoma cells after treatment with sorafenib.The significantly altered TAs and associated metabolites suggested that phenylalanine and tyrosine metabolic pathways were related to sorafenib treatment in Hep3B cells.This sensitive method has great potential to elucidate the mechanism and diagnose diseases considering that an increasing number of physiological functions of TAs have been discovered in recent decades.
7.Factors associated with depression after mild acute ischaemic stroke in the elderly and their predictive value
Yongming ZOU ; Rui SHU ; Na WANG ; Ji BIAN ; Lingya QIAO ; Xiaolin XU
Chinese Journal of Geriatrics 2024;43(3):291-296
Objective:To examine the risk factors and predictive value of depression following mild acute ischemic stroke in elderly individuals.The aim is to enhance early identification and intervention, ultimately leading to improved prognosis.Methods:A case-control study was conducted on 988 elderly patients with mild acute ischemic stroke.The study collected general population and social data, as well as clinical laboratory data such as blood glucose, blood lipids, and AD7C-NTP in urine.Additionally, the patients underwent assessments using the Montreal Cognitive Assessment Scale(MoCA), National Institutes of Health Stroke Scale(NHISS), Barthel index(BI), Hamilton Anxiety Scale(HAMA), and Hamilton Depression Scale(HAMD).Based on the HAMD depression scale score, the patients were divided into a nopost-stooke depression(NPSD)group and a post-stooke depression(PSD)group.The study then analyzed the related risk factors and predictive value of PSD.Results:A total of 988 patients were eligible for inclusion, with 132 being excluded and 856 being included.The NPSD and PSD groups showed significant differences in age, hypertension, smoking history, education level, and stroke history(all P<0.05).Regarding clinical data, there were statistically significant differences between the two groups in total cholesterol(TC), triacylglycerol(TG), HDL, urinary AD7C-NTP, MoCA, and HAMA scores(all P<0.05).The results of the multi-factor logistic regression analysis revealed that gender( OR=1.975, 95% CI: 1.223-3.190, P=0.005), stroke history( OR=1.352, 95% CI: 0.877-2.086, P=0.042), and HAMA score( OR=1.216, 95% CI: 0.932-1.526, P=0.043)were identified as independent risk factors for post-stroke depression in the elderly.Conversely, MoCA score( OR=0.873, 95% CI: 0.814-0.937, P<0.001)was found to be an independent protective factor.Furthermore, the ROC curve analysis demonstrated that the HAMA score(AUC=0.892, sensitivity: 0.721, specificity: 0.854, cut-off value: 9.5)exhibited significant predictive value, while the other indexes had limited predictive value. Conclusions:Gender, stroke history, and HAMA score have been identified as potential independent risk factors for post-stroke depression(PSD)in the elderly, while MoCA score may serve as an independent protective factor.Notably, HAMA score demonstrates a strong predictive ability for PSD.Early identification of these factors and timely intervention could significantly contribute to improving prognosis.
8.Influence of pH value on tube formation of human dermal microvascular endothelial cells and its molecular mechanism
Xiaolin WANG ; Jing LI ; Yongqian BIAN ; Jinqing LI ; Xueyong LI
Chinese Journal of Burns 2023;39(7):662-670
Objective:To explore the influence of pH value on tube formation of human dermal microvascular endothelial cells (HDMECs) and study its molecular mechanism, so as to provide theoretical basis for the study of promoting angiogenesis in the process of wound healing.Methods:The experimental study methods were applied. HDMECs of 4 or 5 passages in the logarithmic growth phase were collected for experiments. Culture mediums with pH values of 6.4, 6.6, 6.8, 7.0, 7.2, 7.4, 7.6, and 7.8 were prepared, and the cells were adaptively cultured (the same culture method below) for 24 h before further experiments being carried out. After another 36 h of culture, the relative fluorescence value of cytoplasmic pH value was measured by flow cytometry, and the correlation analysis between the relative fluorescence value of cytoplasmic pH value and the medium pH value was carried out. After another 1.5, 2.5, 3.5, 4.5, and 5.5 days of culture, the cell proliferation activity was detected with cell counting kit 8. Oris TM cell migration detection kit was used to detect the remaining area of cell migration at 0 (immediately), 24, and 48 h after removing the cell seeding stopper. Three-dimensional stromal gel cell tube formation experiment was carried out to detect the lumen diameter of tube formed by cells after another 48 h of culture. The protein expressions of phosphorylation sites 473 and 308 of protein kinase B (Akt) were detected by Western blotting after another 48 h of culture. The sample number was 3. Data were statistically analyzed with Pearson correlation analysis, one-way analysis of variance, analysis of variance for factorial design, analysis of variance for repeated measurement, and Bonferroni correction. Results:After another 36 h of culture, the relative fluorescence values of cytoplasmic pH value of cells cultured in pH 6.8-7.8 mediums were significantly higher than the level in pH 6.4 medium ( P<0.05); compared with those in pH 6.6-7.0 mediums, the relative fluorescence values of cytoplasmic pH value of cells cultured in pH 7.4-7.8 mediums were significantly increased ( P<0.05), and the relative fluorescence value of cytoplasmic pH value of cells cultured in pH 6.6 medium was significantly lower than that in pH 7.0 or 7.2 mediun (with P values all <0.05); the relative fluorescence values of cytoplasmic pH value of cells cultured in pH 7.6 and 7.8 mediums were significantly higher than those in pH 7.2 and 7.4 mediums ( P<0.05). The relative fluorescence value of cytoplasmic pH value was significantly positively correlated with the medium pH value ( r=0.99, P<0.05). The proliferation activity was similar among cells cultured in 8 mediums of different pH values for another 1.5 days ( P>0.05). After another 2.5 days of culture, the proliferation activity of cells cultured in pH 6.4-6.8 mediums was significantly decreased compared with that in pH 7.6 medium ( P<0.05). After another 3.5 days of culture, the proliferation activity of cells cultured in pH 7.0-7.8 mediums was significantly higher than that in pH 6.4-6.8 mediums ( P<0.05); compared with that in pH 7.6 medium, the proliferation activity of cells cultured in pH 7.0-7.4 and 7.8 mediums was significantly decreased ( P<0.05). After another 4.5 or 5.5 days of culture, the proliferation activity of cells cultured in pH 6.8-7.8 mediums was significantly higher than that in pH 6.4 medium ( P<0.05); compared with that in pH 6.6 and 6.8 mediums, the proliferation activity of cells cultured in pH 7.0-7.8 mediums was significantly increased ( P<0.05). After another 4.5 days of culture, the proliferation activity of cells cultured in pH 7.6 medium was significantly higher than that in pH 7.0 medium ( P<0.05). After another 5.5 days of culture, the proliferation activity of cells cultured in pH 7.2-7.6 mediums was significantly increased compared with that in pH 7.0 medium ( P<0.05); the proliferation activity of cells cultured in pH 7.2 and 7.4 mediums was significantly lower than that in pH 7.6 medium (with P values all <0.05) but significantly higher than that in pH 7.6 medium (with P values all <0.05). Immediately after removing the cell seeding stopper, the remaining migration areas were similar among cells cultured in 8 mediums of different pH values ( P>0.05). At 24 h after removing the cell seeding stopper, the remaining migration areas of cells cultured in pH 6.6-7.8 mediums were significantly smaller than the area in pH 6.4 medium ( P<0.05); compared with those in pH 6.6 and 6.8 mediums, the remaining migration areas of cells cultured in pH 7.0 to 7.6 mediums were significantly reduced ( P<0.05). At 48 h after removing the cell seeding stopper, compared with those in pH 6.4 and 6.6 mediums, the remaining migration areas of cells cultured in pH 7.0-7.8 mediums were significantly reduced ( P<0.05); the remaining migration areas of cells cultured in pH 7.2 and 7.4 mediums were significantly smaller than those in pH 6.8, 7.0, and 7.8 mediums ( P<0.05) but significantly larger than the area in pH 7.6 medium ( P<0.05); the remaining migration area of cells cultured in pH 7.6 medium was significantly smaller than that in pH 6.8 or 7.8 medium (with P values all <0.05). After another 48 h of culture, the lumen diameters of tubes formed by cells cultured in pH 7.0, 7.2, 7.4, 7.6, and 7.8 mediums were (5.0±0.5), (7.6±0.9), (8.5±0.7), (11.0±0.8), and (5.3±0.8) μm, respectively, which were significantly longer than (2.8±0.8) μm in pH 6.4 medium ( P<0.05); the lumen diameters of tubes formed by cells cultured in pH 6.6 ((4.2±0.3) μm), 6.8 ((4.5±0.6) μm), 7.0, and 7.8 mediums were significantly shorter than the diameter in pH 7.6 medium ( P<0.05). After another 48 h of culture, compared with those in pH 6.4 and 6.6 mediums, the protein expressions of Akt phosphorylation sites 473 and 308 of cells cultured in pH 6.8 to 7.8 mediums were significantly increased ( P<0.05). Moreover, the protein expression of Akt phosphorylation site 308 of cells cultured in pH 6.6 medium was significantly higher than that in pH 6.4 medium ( P<0.05); compared with the expression in pH 6.8 medium, the protein expressions of Akt phosphorylation site 473 of cells cultured in pH 7.0 and 7.4-7.8 mediums were significantly increased ( P<0.05); compared with the expression in pH 7.6 medium, the protein expressions of Akt phosphorylation site 473 of cells cultured in pH 7.0-7.4 and 7.8 mediums were significantly decreased ( P<0.05); compared with the expression in pH 7.8 medium, the protein expressions of Akt phosphorylation site 308 of cells cultured in pH 7.0 to 7.6 mediums were significantly increased ( P<0.05). Conclusions:pH value can regulate the lumen diameter of HDMEC-formed capillaries, which is closely related to the activation of Akt. 7.2-7.6 is the appropriate pH value for constructing tissue engineered capillaries.
9.Carrier screening for 223 monogenic diseases in Chinese population:a multi-center study in 33 104 individuals
Wei HOU ; Xiaolin FU ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Manli ZHANG ; Rui XIAO ; Yanping LU
Journal of Southern Medical University 2024;44(6):1015-1023
Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.
10.Carrier screening for 223 monogenic diseases in Chinese population:a multi-center study in 33 104 individuals
Wei HOU ; Xiaolin FU ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Manli ZHANG ; Rui XIAO ; Yanping LU
Journal of Southern Medical University 2024;44(6):1015-1023
Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.