1.Role of CD28+/CTLA-4:B7costimulators in immune pathophysiology of severe pneumonia
Mingyan JIANG ; Ziwen ZHAO ; Zhuxiang ZHAO ; Yangli XU ; Shuquan WEI ; Yeqing ZHENG
Journal of Chinese Physician 2008;10(8):1009-1012
Objective To explore the possible role of CD28 +/CD152 +:B7 eostimulators in immune pathophysiology of severe pneumonia.Methods 22 severe pneumonia peripheral blood sample were used to analyze the expression of CD3+ T cell CD28+,CD152+,CD14++ on mononuelear cell CD86+,and HLA - DR + by FACS expression.The relationship between CD28+,CTLA4,CD86+ and the HLA-DR +,and the relationship between APACHE Ⅱ Grading,CD28+,CD152+,CD86+ and HLA-DR + were analyzed.Results Compared with the control group,the expression of CD3 + T cell,CD86+ and HLA - DR + were remarkably reduced while the expression of CD28+ and CD152+ were markedly increased in patients with severe pneumonia who were hospitalized in 24 h(P<0.05).However,T cells with positive CD8+ CD3+ and CD4+ CD3+ had no significant change between two groups(P>0.05).For patients with severe pneumonia who survived,the APACHE Ⅱ scores were significantly reduced while the expression of CD28+,CD152+,CD86+,HLA-DR + and CD3+ + cells were significantly increased after 10 days from admission(P<0.05).By contrast,T cells with positive CD8+ CD3+ and CD4+CD3+ had no significant change between two groups(P>0.05).There were no relation between costimulators CD28+ and HLA - DR + (r=-0.12,P=0.54)and APACHE Ⅱ scores(r=-0.30,P=0.19) in control group.CD86+ and HLA - DR + showed positive correlation(r=0.65,P=0.00).CD86+ and APACHE Ⅱ scores had no correlation(r=-0.38,P=0.09).Conclusion The costimulators expressed abnormally in circumference blood of patients with severe pneumonia,CD86+ decreased,but CD28+,CD152+ increased.T cell of circumference blood was at the condition of "anergy".The increase of CD28+,CD86+,CD86+ and HLA - DR + during convalescence stages in patient with severe pneumonia showed that spocific immunity was advantageous for restoration in these patients.The relationship among CD86+,CTLA4 and HLA - DR + indicated that CD28+/CD152+:B7 play an role in the occurrence and development of severe pneumonia.
2.MRI Features of Mucinous Breast Carcinoma and the Correlation with Biological Prognostic Factors
Yuan GUO ; Qingcong KONG ; Yeqing ZHU ; Chunling LIU ; Hui HE ; Jine ZHANG ; Ruimeng YANG ; Xinqing JIANG
Journal of Sun Yat-sen University(Medical Sciences) 2017;38(2):285-290,295
[Objective]To explore the MRI features of the mucinous breast carcinoma and the correlation with biological prognos?tic factors.[Methods]MRI features of 35 pure and 15 mixed mucinous carcinomas were retrospectively analyzed. MR images were reviewed for shape,margin,the signal intensity,enhancement patterns of tumors and DWI features. All the patients were detected by immunohistochemical staining with expression of ER,PR,CerbB-2,Ki-67 and Her-2. Correlations between the pure and mixed mucinous breast carcinoma and prognostic factors were analyzed.[Results]16 oval masses(16/35,45.7%)and 10 circular masses (10/35,28.6%)were found in 35 pure mucinous breast carcinomas with clear boundary(26/35,74.3%)and lobulated shape(31/35,88.6%);9 irregular masses(9/15,60%)were found in mixed mucinous breast carcinomas with unclear boundary(13/15, 86.7%). Very high signal intensity on T2-weighted images was found in 33 pure mucinous carcinomas(33/35,94.3%)and 11 mixed mucinous carcinomas showed mixed signal intensity(11/15,73.3%). Early enhancement rate was(114.7 ± 9.1)% for pure muci?nous carcinomas and(165.6 ± 14.3)%for mixed mucinous carcinomas. 28 pure mucinous tumors demonstrated persistent enhancing pattern on time-signal intensity curve ,7 pure mucinous tumors demonstrated plateau pattern and 7 mixed mucinous carcinomas showed plateau pattern and washout pattern respectively. Mean ADC value was(1.91 ± 0.06)×10-3 mm2/s for pure mucinous carcino?mas and(1.13±0.08)×10-3mm2/s for mixed mucinous carcinomas. There was significant difference with morphology,boundary,T2WI signal,early enhancement rate,time-signal intensity curve,ADC value between pure and mixed mucinous breast carcinoma(P <0.05). There was significant difference between pure and mixed mucinous breast carcinoma with Her-2 and Ki-67 expression(P <0.05).[Conclusion]MRI could identify PMBC and MMBC from the shape,the signal intensity,dynamic enhancement and ADC val?ue,and PMBC had distinctive MRI features. The prognosis of MMBC is worse than that of PMBC form correlation between biological prognostic factors and mucinous breast carcinoma.
3. Intensive care unit-acquired weakness of mechanically ventilated patients: prevalence and risk factors
Yeqing LI ; Xiuming XI ; Li JIANG ; Bo ZHU
Chinese Critical Care Medicine 2019;31(11):1351-1356
Objective:
To observe the incidence of intensive care unit-acquired weakness (ICU-AW) of mechanically ventilated patients, and to identify the relevant risk factors.
Methods:
A prospective cohort study was conducted. The patients admitted to intensive care unit (ICU) of Fuxing Hospital, Capital Medical University, aged 18 years old or older, with the duration of mechanical ventilation ≥ 24 hours and expected to stay in ICU for ≥ 7 days from May 2015 to January 2016 were enrolled. From the 7th day after ICU admission, the patients were evaluated for consciousness every day. If the patient was awake and could cooperate with muscle strength measurement, the day was recorded as T1, and the patient's muscle strength was measured using the Medical Research Council scale (MRC) and recorded, then all patients were divided into two groups according to MRC score, ICU-AW group (MRC score < 48) and non-ICU-AW group (MRC score ≥ 48). The death, transfer or the 28th day of ICU admission were regarded as the end of observation. The data from the first day of ICU admission to T1 (before T1), including metabolic factors (the lowest value of blood sodium, blood potassium, blood calcium, albumin, and the highest value of blood glucose), mechanical ventilation factors (mode and duration of mechanical ventilation), organ dysfunction factors [occurrence and duration of sepsis, multiple organ dysfunction syndrome (MODS)], and drug factors (whether the patients used aminoglycoside, sedative, muscle relaxant or glucocorticoids, etc., the time of these drugs usage and the cumulative dose) of the patients were observed, recorded and analyzed, as well as the data from T1 to the end of the observation period, including the duration of mechanical ventilation, incidence of ventilator associated pneumonia (VAP), 28-day mortality, the length of ICU stay, and the cost of ICU and hospitalization. The relevant factors with statistical significance in univariate analysis were enrolled in multivariate analysis, and Logistic regression equation was established to screen the independent risk factors that might lead to ICU-AW.
Results:
486 patients with mechanical ventilation were enrolled in this study, and 37 patients were enrolled according to the inclusion and exclusion criteria, including 15 patients with ICU-AW (with ICU-AW incidence of 40.5%) and 22 patients without ICU-AW. In the univariate analysis, ICU-AW group patients showed statistical differences in following factors as compared with the non-ICU-AW group: age, and the duration of invasive ventilation and the total duration of mechanical ventilation, braking time, sepsis, MODS and duration of them, the usage days and dosage of sedative and glucocorticoid before T1. The total duration of mechanical ventilation from T1 to the end of the observation period, total duration of mechanical ventilation during the observation period, and length of ICU stay of the ICU-AW group were significantly longer than those of the non-ICU-AW group [hours: 190 (110, 274) vs. 4 (0, 57), hours: 337 (237, 477) vs. 78 (43, 170), days: 20±7 vs. 14±7, all
4.Increased Wall Enhancement Extent Representing Higher Rupture Risk of Unruptured Intracranial Aneurysms
Yeqing JIANG ; Feng XU ; Lei HUANG ; Gang LU ; Liang GE ; Hailin WAN ; Daoying GENG ; Xiaolong ZHANG
Journal of Korean Neurosurgical Society 2021;64(2):189-197
Objective:
: This study aims to investigate the relationship between aneurysm wall enhancement and clinical rupture risks based on the magnetic resonance vessel wall imaging (MR-VWI) quantitative methods.
Methods:
: One hundred and eight patients with 127 unruptured aneurysms were prospectively enrolled from Feburary 2016 to October 2017. Aneurysms were divided into high risk (≥10) and intermediate-low risk group (<10) according to the PHASES (Population, Hypertension, Age, Size of aneurysm, Earlier SAH history from another aneurysm, Site of aneurysm) scores. Clinical risk factors, aneurysm morphology, and wall enhancement index (WEI) calculated using 3D MR-VWI were analyzed and compared.
Results:
: In comparison of high-risk and intermediated-low risk groups, univariate analysis showed that neck width (4.5±3.3 mm vs. 3.4±1.7 mm, p=0.002), the presence of wall enhancement (100.0% vs. 62.9%, p<0.001), and WEI (1.6±0.6 vs. 0.8±0.8, p<0.001) were significantly associated with high rupture risk. Multivariate regression analysis revealed that WEI was the most important factor in predicting high rupture risk (odds ratio, 2.6; 95% confidence interval, 1.4–4.9; p=0.002). The receiver operating characteristic (ROC) curve analysis can efficiently differentiate higher risk aneurysms (area under the curve, 0.780; p<0.001) which have a reliable WEI cutoff value (1.04; sensitivity, 0.833; specificity, 0.67) predictive of high rupture risk.
Conclusion
: Aneurysms with higher rupture risk based on PHASES score demonstrate increased neck width, wall enhancement, and the enhancement intensity. Higher WEI in unruptured aneurysms has a predictive value for increased rupture risk.
5.Long-Term Outcomes of Stenting on Non-Acute Phase Extracranial Supra-Aortic Dissections
Yeqing JIANG ; Ruoyu DI ; Gang LU ; Lei HUANG ; Hailin WAN ; Liang GE ; Xiaolong ZHANG
Journal of Korean Neurosurgical Society 2022;65(3):422-429
Objective:
: Extracranial supra-aortic dissections (ESADs) with severe stenosis, occlusion and/or pseudoaneurysm presents potential risk of stroke. Endovascular stenting to reconstruct non acute phase ESADs (NAP-ESADs) is an alternative to anticoagulant or antiplatelet therapy. However, its feasibility, safety and efficacy of stenting in NAP-ESADs is unclear. This study aims to investigate the long-term outcomes of the feasibility, safety and efficacy of stenting in NAP-ESADs.
Methods:
: Seventy-four patients with 91 NAP-ESAD vessels with severe stenosis, occlusion and/or pseudoaneurysm presents potential risk of stroke who underwent stent remodeling were enrolled into this respective study from December 2008 to March 2020. Technical success rate, complications, clinical and angiographic results were harvested and analyzed.
Results:
: Success rate of stent deployment was 99% (90/91) with no procedural mortality or morbidity. Transient ischemic attack occurred in three patients during operation (4.1%, 3/74). Asymptomatic embolisms of distal intracranial vessels were found in two patients (2.7%, 2/74). One hundred and forty-two stents deployed at 85 carotid (135 stents) and six vertebral (seven stents) vessels. Six stent types (Wingspan, 28/135, 20.7%; Solitaire, 10/135, 7.4%; Neuroform, 8/135, 5.9%; LVIS, 2/135, 1.5%; Precise, 75/135, 55.6%; Acculink, 12/135, 8.9%) were deployed at carotid arterial dissection while two types (Wingspan, 5/7, 71.4%; Solitaire 2/7, 28.6%) at vertebral arterial dissection. Digital subtracted angiography (56%, 51/91), computational tomography angiography (41.8%, 38/91) and high resolution magnetic resonance imaging (2.2%, 2/91) were adopted for follow up, with a mean time of 17.2±15.4 months (5–77). All patient modified Rankin Scale scores showed no increase at discharge or follow-up. Angiographically, dissections in 86 vessels in 69 patients (94.5%, 86/91) were completely reconstructed with only minor remnant dissections in four vessels in four patients (4.4%, 4/91). Severe re-stenosis in the stented segment required re-stenting in one patient (1.1%, 1/91).
Conclusion
: Stent remodeling technique provides feasible, safe and efficacious treatment of ESADs patients with severe stenosis, occlusion and/or pseudoaneurysm.
6.Intensive care unit-acquired weakness of mechanically ventilated patients: prevalence and risk factors.
Yeqing LI ; Xiuming XI ; Li JIANG ; Bo ZHU
Chinese Critical Care Medicine 2019;31(11):1351-1356
OBJECTIVE:
To observe the incidence of intensive care unit-acquired weakness (ICU-AW) of mechanically ventilated patients, and to identify the relevant risk factors.
METHODS:
A prospective cohort study was conducted. The patients admitted to intensive care unit (ICU) of Fuxing Hospital, Capital Medical University, aged 18 years old or older, with the duration of mechanical ventilation ≥ 24 hours and expected to stay in ICU for ≥ 7 days from May 2015 to January 2016 were enrolled. From the 7th day after ICU admission, the patients were evaluated for consciousness every day. If the patient was awake and could cooperate with muscle strength measurement, the day was recorded as T1, and the patient's muscle strength was measured using the Medical Research Council scale (MRC) and recorded, then all patients were divided into two groups according to MRC score, ICU-AW group (MRC score < 48) and non-ICU-AW group (MRC score ≥ 48). The death, transfer or the 28th day of ICU admission were regarded as the end of observation. The data from the first day of ICU admission to T1 (before T1), including metabolic factors (the lowest value of blood sodium, blood potassium, blood calcium, albumin, and the highest value of blood glucose), mechanical ventilation factors (mode and duration of mechanical ventilation), organ dysfunction factors [occurrence and duration of sepsis, multiple organ dysfunction syndrome (MODS)], and drug factors (whether the patients used aminoglycoside, sedative, muscle relaxant or glucocorticoids, etc., the time of these drugs usage and the cumulative dose) of the patients were observed, recorded and analyzed, as well as the data from T1 to the end of the observation period, including the duration of mechanical ventilation, incidence of ventilator associated pneumonia (VAP), 28-day mortality, the length of ICU stay, and the cost of ICU and hospitalization. The relevant factors with statistical significance in univariate analysis were enrolled in multivariate analysis, and Logistic regression equation was established to screen the independent risk factors that might lead to ICU-AW.
RESULTS:
486 patients with mechanical ventilation were enrolled in this study, and 37 patients were enrolled according to the inclusion and exclusion criteria, including 15 patients with ICU-AW (with ICU-AW incidence of 40.5%) and 22 patients without ICU-AW. In the univariate analysis, ICU-AW group patients showed statistical differences in following factors as compared with the non-ICU-AW group: age, and the duration of invasive ventilation and the total duration of mechanical ventilation, braking time, sepsis, MODS and duration of them, the usage days and dosage of sedative and glucocorticoid before T1. The total duration of mechanical ventilation from T1 to the end of the observation period, total duration of mechanical ventilation during the observation period, and length of ICU stay of the ICU-AW group were significantly longer than those of the non-ICU-AW group [hours: 190 (110, 274) vs. 4 (0, 57), hours: 337 (237, 477) vs. 78 (43, 170), days: 20±7 vs. 14±7, all P < 0.05], the incidence of VAP, 28-day mortality and total hospitalization expenses were significantly higher than those of the non-ICU-AW group [26.7% (4/15) vs. 0% (0/22), 53.3% (8/15) vs. 9.1% (2/22), 10 thousands Yuan: 18.7±7.7 vs. 12.1±10.8, all P < 0.05]. Multivariate Logistic regression analysis showed that the total duration of mechanical ventilation between the patient awake and ICU admission [odds ratio (OR) = 1.03, 95% confidence interval (95%CI) was 1.01-1.05, P = 0.011] and the duration of MODS (OR = 1.79, 95%CI was 1.17-2.72, P = 0.007) were the independent risk factors for ICU-AW in mechanically ventilated patients.
CONCLUSIONS
ICU-AW is quite common in patients with mechanical ventilation and has a higher incidence. The risk factors associated with ICU-AW were the total duration of mechanical ventilation and duration of MODS.
Adult
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Humans
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Intensive Care Units
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Muscle Weakness/epidemiology*
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Prevalence
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Prospective Studies
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Respiration, Artificial
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Risk Factors
7.Clinical efficacy of stent-assisted coil embolization for recurrent intracranial bifurcation aneurysms
Hailin WAN ; Gang LU ; Lei HUANG ; Liang GE ; Yeqing JIANG ; Ruoyu DI ; Xiaolong ZHANG
Chinese Journal of Surgery 2021;59(3):196-202
Objective:To evaluate the safety and efficacy of stent-assisted coil embolization in patients with recurrent intracranial bifurcation aneurysms,after initial simple coiling or microsurgical clipping.Methods:Clinical data of 20 patients with recurrent intracranial bifurcation aneurysms who initially underwent simple coiling or surgical clipping and subsequently re-treated by stent-assisted coiling embolization at the Radiology Intervention Department of Huashan Hospital between March 2009 and November 2019 were collected and analyzed retrospectively.There were 9 males and 11 females,with a median age of 55.5 years (range:33 to 71 years),including 17 aneurysms initially treated with simple coiling and 3 treated with surgical clipping.All cases were re-treated with stent-assisted coiling,15 using a single stent and 5 employing two stents in a Y-configuration.Peri-and post-operative complications and outcomes were evaluated.Mann-Whitney U tests were performed to compare the follow-up duration between initial treatment and re-treatment.Student′s t tests were used to compare the parent artery angles before re-treatment, after re-treatment and at the last follow-up. The parent artery angle was defined using the proximal main trunk and the stented branch. Results:Immediate complete occlusion (Raymond Ⅰ) was achieved in 18 aneurysms (90.0%) while 2 aneurysms (10.0%) had a residual neck (Raymond Ⅱ).The median follow-up time( M( Q R)) was 8.5(16.3)months,which had no significantly different from the initial treatment follow-up duration (15.5(27.0)months)( U=157.7, P=0.25). During the follow-up period,2 aneurysms (10.0%) with immediate post-operative residual necks recanalized again,including 1 aneurysm re-treated with the Y-configuration stent.Symptomatic thromboembolic complications occurred in 6 patients,including 4 re-treated with the Y-configuration stent.No peri-operative hemorrhagic complications occurred,along with no operation-related permanent disability or death. The parent artery angle increased significantly from pre-operative(90.1±21.1)°to post-operative and the last follow-up ((115.4±28.9)° and (132.6±26.8)°); t=5.14, P<0.01; t=7.78, P<0.01). Conclusion:For recurrent intracranial bifurcation aneurysms after initial surgical clipping or simple coiling,stent assisted coil embolization is proved to be safe and can decrease recurrence rate.
8.Clinical efficacy of stent-assisted coil embolization for recurrent intracranial bifurcation aneurysms
Hailin WAN ; Gang LU ; Lei HUANG ; Liang GE ; Yeqing JIANG ; Ruoyu DI ; Xiaolong ZHANG
Chinese Journal of Surgery 2021;59(3):196-202
Objective:To evaluate the safety and efficacy of stent-assisted coil embolization in patients with recurrent intracranial bifurcation aneurysms,after initial simple coiling or microsurgical clipping.Methods:Clinical data of 20 patients with recurrent intracranial bifurcation aneurysms who initially underwent simple coiling or surgical clipping and subsequently re-treated by stent-assisted coiling embolization at the Radiology Intervention Department of Huashan Hospital between March 2009 and November 2019 were collected and analyzed retrospectively.There were 9 males and 11 females,with a median age of 55.5 years (range:33 to 71 years),including 17 aneurysms initially treated with simple coiling and 3 treated with surgical clipping.All cases were re-treated with stent-assisted coiling,15 using a single stent and 5 employing two stents in a Y-configuration.Peri-and post-operative complications and outcomes were evaluated.Mann-Whitney U tests were performed to compare the follow-up duration between initial treatment and re-treatment.Student′s t tests were used to compare the parent artery angles before re-treatment, after re-treatment and at the last follow-up. The parent artery angle was defined using the proximal main trunk and the stented branch. Results:Immediate complete occlusion (Raymond Ⅰ) was achieved in 18 aneurysms (90.0%) while 2 aneurysms (10.0%) had a residual neck (Raymond Ⅱ).The median follow-up time( M( Q R)) was 8.5(16.3)months,which had no significantly different from the initial treatment follow-up duration (15.5(27.0)months)( U=157.7, P=0.25). During the follow-up period,2 aneurysms (10.0%) with immediate post-operative residual necks recanalized again,including 1 aneurysm re-treated with the Y-configuration stent.Symptomatic thromboembolic complications occurred in 6 patients,including 4 re-treated with the Y-configuration stent.No peri-operative hemorrhagic complications occurred,along with no operation-related permanent disability or death. The parent artery angle increased significantly from pre-operative(90.1±21.1)°to post-operative and the last follow-up ((115.4±28.9)° and (132.6±26.8)°); t=5.14, P<0.01; t=7.78, P<0.01). Conclusion:For recurrent intracranial bifurcation aneurysms after initial surgical clipping or simple coiling,stent assisted coil embolization is proved to be safe and can decrease recurrence rate.
9.Clinicanl efficacy of intense pulsed light combined with fruit acid in treatment of facial erythema postacnes and postinflammatory hyperpigmentation
Yujian CHEN ; Jian XIE ; Huaizhong CHEN ; Wei LI ; Yeqing LIAO ; Chunmei WEN ; Linchang TAO ; Dongna JIANG
Chinese Journal of Medical Aesthetics and Cosmetology 2024;30(3):262-266
Objective:To evaluate the clinical efficacy and safety of intense pulsed light combined with fruit acid in the treatment of erythema and pigmentation after facial acne.Methods:From January 2019 to December 2022, 108 patients were selected from Dermatology Hospital of Guangxi Zhuang Autonomous Region, including 30 males and 78 females, aged 20-44 (28.2±5.1) years. The patients were divided into three groups: intense pulsed light group (40 cases), fruit acid group (38 cases) and intense pulsed light combined with fruit acid group (30 cases). The clinical efficacy of the three groups was compared. The facial biological characteristics data of patients were collected with VISIA skin analyzer and the changes compared before and after treatment in each group.Results:The total effective rates of the intense pulsed light group, the fruit acid group and the combination group were 57.5% (23/40 cases), 50.0% (19/38 cases), and 80.0% (24/30 cases), respectively. Comparison of total effective rates among three groups, there were statistically significant differences (χ 2=6.70, P=0.04). Comparison of effective rates among different groups showed that there was no difference between the intense pulsed light group and the fruit acid group (χ 2=0.44, P=0.51); there were significant difference between the intense pulse light group and the combination group (χ 2=3.93, 6.49; P<0.05), and between the fruit acid group and the combination group (χ 2=6.49, P=0.01). After treatment, the VISIA scores of erythema, spots, pores, and purple in three groups of patients significantly decreased compared to before treatment ( P<0.05). The VISIA scores of each observation value showed a decreasing trend with the increase of treatment frequency ( P<0.01). During the treatment, no obvious adverse reactions were observed. Conclusions:Intense pulsed light combined with fruit acid in the treatment of facial erythema postacnes and postinflammatory hyperpigmentation can improve the efficacy and less adverse reactions.
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.