1.Expert recommendations on vision friendly built environments for myopia prevention and control in children and adolescents
Chinese Journal of School Health 2026;47(1):1-5
Abstract
The prevention and control of myopia in Chinese children and adolescents has become a major public health issue. While maintaining increased outdoor activity as a cornerstone intervention, there is an urgent need to explore new complementary approaches that can be effectively implemented in both indoor and outdoor settings. In recent years, environmental spatial frequency has gained increasing attention as one of the key environmental factors influencing the development and progression of myopia. Both animal studies and human research have confirmed that indoor environments lacking mid to high spatial frequency components, often characterized as "visually impoverished", can promote axial elongation and myopia through mechanisms such as disruption of retinal neural signaling, impaired accommodative function, and altered expression of related molecules. Based on the scientific consensus, it is recommended that "enriching of environmental spatial frequency" should be integrated into the myopia prevention and control framework. Following the principles of schoolled organization, family cooperation, community involvement, and student participation, specific measures are put forward in three areas:optimizing school visual settings, improving home spatial environments, and promoting healthy visual behavior. The aim is to create "visually friendly" indoor environments as an important supplement to outdoor activity, thereby providing a novel perspective and strategy for comprehensively advancing myopia prevention and control among children and adolescents.
2.Association of physical activity and screen time with emotional and behavioral problems among first year middle school students in one district of Shanghai
YIN Cancan, LUO Chunyan, YAN Qiong, QI Yue, YUE Guizhen
Chinese Journal of School Health 2025;46(3):386-390
Objective:
To investigate the association of moderate to vigorous intensity physical activity (MVPA) and screen time (ST) with emotional and behavioral problems in middle school students, so as to provide a basis for improving the mental health level of adolescents.
Methods:
Four public junior high schools in Jinshan District, Shanghai were selected by random cluster method from September 19 to October 18, 2023, with 779 first grade students included. Strengths and Difficulties Questionnaire (SDQ), as well as physical activity and screen time were collected. Binary Logistic regression analysis was used to investigate the association between MVPA, ST and different dimensions of emotional and behavioral problems.
Results:
Students with MVPA<60 min/d accounted for 82.4%, and with ST>2 h/d accounted for 29.5%. The abnormal rate of SDQ dimensions among students ranged from 6.8 % to 19.3%, with the highest abnormal rate observed in behavioral problems. The results of binary Logistic regression analysis showed that, compared with high level of MVPA, students with low level of MVPA had a significantly increased risk of developing problems in prosocial behavior [ OR (95% CI )=2.16(1.37-3.41), P <0.05]. Compared with low level ST, students with high level had an increased risk of experiencing emotional symptoms, behavioral problems and peer interaction problems [ OR (95% CI )=2.00(1.25-3.22), 2.00(1.41-2.84), and 1.69(1.22-2.33), P <0.05]. Compared with high MVPA and low ST, students with low MVPA and high ST had an increased risk of developing problems in the dimensions of conduct problems, prosocial behavior, and overall difficulty score [ OR (95% CI )=1.92(1.13-3.23), 2.73(1.56-4.77), and 2.07(1.19-3.60), P <0.05].
Conclusions
Physical activity and screen time are related to emotional and behavioral problems in middle school students. Insufficient physical activity time and excessive screen time might increase the risk of emotional and behavioral problems. Interventions can be administered on physical activity and screen time among adolescents to promote their mental health.
3.Disrupting calcium homeostasis and glycometabolism in engineered lipid-based pharmaceuticals propel cancer immunogenic death.
Qiuxia PENG ; Xiaolong LI ; Chao FANG ; Chunyan ZHU ; Taixia WANG ; Binxu YIN ; Xiulin DONG ; Huaijuan GUO ; Yang LIU ; Kun ZHANG
Acta Pharmaceutica Sinica B 2025;15(3):1255-1267
Homeostasis and energy and substance metabolism reprogramming shape various tumor microenvironment to sustain cancer stemness, self-plasticity and treatment resistance. Aiming at them, a lipid-based pharmaceutical loaded with CaO2 and glucose oxidase (GOx) (LipoCaO2/GOx, LCG) has been obtained to disrupt calcium homeostasis and interfere with glycometabolism. The loaded GOx can decompose glucose into H2O2 and gluconic acid, thus competing with anaerobic glycolysis to hamper lactic acid (LA) secretion. The obtained gluconic acid further deprives CaO2 to produce H2O2 and release Ca2+, disrupting Ca2+ homeostasis, which synergizes with GOx-mediated glycometabolism interference to deplete glutathione (GSH) and yield reactive oxygen species (ROS). Systematical experiments reveal that these sequential multifaceted events unlocked by Ca2+ homeostasis disruption and glycometabolism interference, ROS production and LA inhibition, successfully enhance cancer immunogenic deaths of breast cancer cells, hamper regulatory T cells (Tregs) infiltration and promote CD8+ T recruitment, which receives a considerably-inhibited outcome against breast cancer progression. Collectively, this calcium homeostasis disruption glycometabolism interference strategy effectively combines ion interference therapy with starvation therapy to eventually evoke an effective anti-tumor immune environment, which represents in the field of biomedical research.
4.Association between dietary habits and sleep duration among middle school students in Shanghai
YIN Xiaoya, ZHAI Yani, YUAN Linlin, YAN Qiong, ZHOU Xinyi, LUO Chunyan, SUN Lijing
Chinese Journal of School Health 2024;45(8):1140-1143
Objective:
To explore the association between dietary behaviors and sleep duration among middle school students in Shanghai, so as to provide reference for interventions targeting insufficient sleep.
Methods:
From May to June 2021, a stratified cluster random sampling method was employed to select a sample of 10-17yearold middle school students for monitoring their healthrisk behaviors. A total of 5 538 valid questionnaires were collected. The survey included items such as daily sleep duration, weekly consumption of sugary beverages, freshly squeezed fruit juice, fresh fruits, fresh vegetables, fried foods, milk and yogurt, breakfast habits, and frequency of eating outside. Statistical analysis was conducted using Chisquare test, Wilcoxon ranksum test, and multivariable Logistic regression model.
Results:
About 73.7% of middle school students reported insufficient sleep in Shanghai. There was a positive correlation between the average daily consumption of fresh fruits and breakfast consumption with sleep duration. In other words, a higher frequency of consuming fresh fruits (OR=1.29) and eating breakfast (OR=1.07) were associated with a higher likelihood of sufficient sleep. Conversely, there was a negative correlation between the frequency of consuming desserts (OR=0.78) and fried foods (OR=0.88) and sleep duration (P<0.05).
Conclusions
Increasing the consumption of fresh fruits and maintaining regular breakfast habits while reducing the intake of fried foods can contribute to achieving sufficient sleep among middle school students. When implementing interventions to improve sleep among middle school students, promoting healthy and balanced diets can be considered as one of the intervention strategies.
5.Risk factors for unplanned readmission after transjugular intrahepatic portosystemic shunt in cirrhotic patients with esophagogastric variceal bleeding and construction of a nomogram model
Qin YIN ; Zhaorong WU ; Feng ZHANG ; Chunyan JIN ; Yanping CAO ; Jiangqiang XIAO ; Yuzheng ZHUGE ; Qian WANG
Journal of Clinical Hepatology 2024;40(9):1796-1801
Objective To investigate the risk factors for unplanned readmission within 30 days after discharge in cirrhotic patients with esophagogastric variceal bleeding undergoing transjugular intrahepatic portosystemic shunt(TIPS),and to construct a nomogram predictive model.Methods A total of 241 cirrhotic patients who underwent TIPS due to esophagogastric variceal bleeding in Affiliated Drum Tower Hospital of Nanjing University Medical School from January 2020 to June 2023 were enrolled as subjects,and unplanned readmission within 30 days was analyzed.According to the presence or absence of unplanned readmission,they were divided into readmission group with 36 patients and non-readmission group with 198 patients,and related clinical data were collected from all patients.The independent-samples t test was used for comparison of normally distributed continuous data between two groups,and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups;the chi-square test was used for comparison of categorical data between two groups.A logistic regression analysis was used to identify independent risk factors for unplanned readmission.A nomogram prediction model was constructed,and the receiver operating characteristic(ROC)curve was plotted to assess its discriminatory ability for unplanned readmission;the calibration curve was plotted to evaluate the consistency of the nomogram model in predicting unplanned readmission;the ResourceSelection package of R language was used for the Hosmer-Lemeshow goodness-of-fit test to evaluate the degree of fitting of the mode;the decision curve analysis was used to investigate the practicality of the model.Results Age(odds ratio[OR]=2.664,95%confidence interval[CI]:1.139-6.233,P<0.05),CTP score(OR=1.655,95%CI:1.098-2.495,P<0.05),and blood ammonia(OR=1.032,95%CI:1.016-1.048,P<0.05)were independent risk factors for unplanned readmission within 30 days after discharge in the patients undergoing TIPS.The multivariate analysis showed that for the nomogram predictive model constructed in this study,repeated sampling for 1 000 times using the Bootstrap method was performed for internal validation,and the area under the ROC curve was 0.773,which was significantly higher than that of age(0.582),CTP score(0.675),and blood ammonia(0.641).The calibration curve showed good consistency between the probability of unplanned readmission predicted by the nomogram model and the actual probability,and the Hosmer-Lemeshow goodness-of-fit test showed good degree of fitting(c2=5.647 3,P=0.686 7).Conclusion Age,CTP score,and blood ammonia are independent risk factors for unplanned readmission within 30 days after TIPS,and the nomogram prediction model constructed based on these factors can help to predict the risk of unplanned readmission in TIPS patients and provide an accurate decision-making basis for early prevention.
6.Clinical analysis of dual enhanced antiplatelet therapy after cerebrovascular intervention for reducing the risk of cerebral infarction recurrence
Yang LIU ; Yanying YIN ; Qiaoli LU ; Chen LI ; Chunyan ZHANG
Chinese Journal of Preventive Medicine 2024;58(7):1062-1068
To investigate the clinical assessment of dual-enhanced antiplatelet therapy after cerebrovascular intervention to reduce the risk of cerebral infarction recurrence, and to provide a reference for the prevention and treatment of cerebral infarction recurrence risk. 202 patients with cerebral infarction who underwent cerebrovascular intervention in Tianjin Fifth Central Hospital from January 2018 to October 2022 were selected as study subjects. The patients were divided into a treatment group ( n=104) based on randomized controlled single-blind method with 61 males and 43 females with a mean age of (62.33±2.57) years old and a control group ( n=98) with 56 males and 42 females with a mean age of (62.49±2.36) years old. The control group was given aspirin mono-antiplatelet therapy, and the treatment group was given clopidogrel doublet augmented antiplatelet therapy on the basis of the control group, and both groups continued the treatment for 2 months. Platelet counts, coagulation indexes and inflammatory factors were compared between the two groups before and after treatment, and the America National Institutes of Health Stroke Scale (NIHSS) score was used to assess the neurological functions of the two groups before and after treatment, and the recurrence of cerebral infarction in the two groups was counted within 6 months after treatment. In addition, the patients in the treatment group were divided into the cerebral infarction recurrence group and the cerebral infarction non-recurrence group according to whether they had cerebral infarction recurrence within 6 months after treatment, and the clinical data of the patients in the treatment group were collected to analyze the influencing factors of the dual-enhancement antiplatelet therapy for the recurrence of cerebral infarction in patients with cerebral infarction after cerebral vascular intervention by multifactorial logistic regression. The results showed that after treatment, patients in the treatment group had an international normalized ratio (INR) of (1.76±0.38), a platelet activation rate of (39.52±4.79)%, a platelet aggregation rate of (48.54±5.21)%, a tumor necrosis factor-alpha (TNF-alpha) of (28.37±4.47)ng/L, an interleukin 6 (IL-6) of (24.77±3.52)ng/L, a high-sensitivity C-reactive protein (hs-CRP) of (7.39±1.53)mg/L and an NIHSS score of (6.11±1.39) were lower than those of the control group (2.32±0.41), (44.81±6.37)%, (51.39±5.58)%, (39.66±4.51) ng/L, (29.25±4.04) ng/L, (9.03±1.78) mg/L and (9.93±1.46) points (all P<0.05). At 6-month follow-up of all patients, cerebral infarction recurred in 16 (15.38%) patients in the treatment group and in 33 (33.67%) patients in the control group ( χ2=9.185, P<0.05). Kaplan-Meier results showed a statistically significant difference in the rate of recurrence without cerebral infarction in the treatment group compared with the control group(LogRank χ2=4.595, P<0.05). Logistic regression analysis showed that smoking history, cervical vascular plaque, post-treatment NIHSS score, post-treatment stenosis score, post-treatment INR, post-treatment hs-CRP and CYP2C19 gene polymorphism were independent influences on the recurrence of cerebral infarction in cerebral infarction patients with cerebral vascular interventions followed by doublet augmentation of antiplatelet therapy (all P<0.05). In conclusion, dual-enhanced antiplatelet therapy may be an effective measure to reduce the risk of cerebral infarction recurrence after cerebrovascular intervention in patients with cerebral infarction, but it is still influenced by more factors.
7.Correlation Analysis Between Anti-cerebral Ischemia Oxidative Damage and Contents of Active Components in Characteristic Processed Products with Porcine Cardiac Blood and Other Processed Products of Salviae Miltiorrhizae Radix et Rhizoma from Menghe Medical School
Zhen ZENG ; Yuanpei LIAN ; Jiali CAI ; Chunyan YIN ; Dijun WANG ; Li ZHU ; Chanming LIU ; Wei HUANG ; Xiaojing YAN
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(15):162-171
ObjectiveTo analyze the correlation between 11 small molecule active components and 1 protein component of characteristic processed products with porcine cardiac blood and other products of Salviae Miltiorrhizae Radix et Rhizoma(SMRR) from Menghe medical school and anti-cerebral ischemic oxidative damage, and to identify its key component markers of characteristic processed products with porcine cardiac blood for anti-cerebral ischemic oxidative damage. MethodHigh performance liquid chromatography(HPLC) was established to simultaneously determine the contents of 11 active ingredients in SMRR and its processed products[processed with porcine cardiac blood, porcine blood, wine and transferrin(Tf) in porcine cardiac blood], and the content of Tf in different processed products of SMRR was detected by enzyme-linked immunosorbent assay(ELISA). Furthermore, A zebrafish ischemic stroke model was constructed to evaluate the effects of different processed products of SMRR on the behavioral trajectory of cerebral ischemic zebrafish, the neuronal damage of transgenic zebrafish Tg(elavl3:eGFP) brain, as well as the levels of malondialdehyde(MDA) and superoxide dismutase(SOD) in the brain tissues. The hippocampal neurons oxygen-glucose deprivation/reoxygenation(OGD/R)-induced ischemia-hypoxia model was constructed to evaluate the effects of different processed products of SMRR on oxidative damage of neuronal cells by taking lactate dehydrogenase(LDH), reactive oxygen species(ROS), MDA and SOD as indexes. Finally, principal component analysis(PCA), partial least squares-discriminant analysis(PLS-DA) and Spearman correlation analysis were used to analyze the 11 small molecule active components and 1 protein component with efficacy indicators, in order to screen the key components of the characteristic processed products with porcine cardiac blood for cerebral ischemic oxidative damage. ResultCompared with the raw products, the contents of water-soluble and fat-soluble components in processed products of SMRR increased to different degrees, while the content of salvianolic acid A decreased. Compared with the wine-processed products, the contents of salvianolic acid B, danshensu, rosmarinic acid and other components in the porcine cardiac blood-processed products, porcine blood-processed products, Tf-processed products were increased, while the content of salvianolic acid A was decreased. ELISA results showed that there was no significant difference in Tf content between the porcine cardiac blood-processed products, porcine blood-processed products, Tf-processed products. Pharmacological results showed that different processed products of SMRR could improve the behavioral deficits, brain neuronal injury and oxidative stress after ischemic stroke in zebrafish, and the effect of the porcine cardiac blood-processed products was most pronounced. PCA results showed that salvianolic acid B, salvianolic acid A, rosmarinic acid, lithospermic acid, danshensu, tanshinone ⅡA, caffeic acid, cryptotanshinone and tanshinone Ⅰ were the main contributing components of SMRR and its processed products. And the results of correlation analysis showed that the contents of cryptotanshinone, rosmarinic acid, caffeic acid, dihydrotanshinone Ⅰ, salvianolic acid B, tanshinone ⅡA and tanshinone Ⅰ were negatively correlated with MDA level in zebrafish brain tissue, while the contents of lithospermic acid, protocatechuic aldehyde, rosmarinic acid, dihydrotanshinone Ⅰ, salvianolic acid B and Tf were positively correlated with SOD level, and the contents of rosmarinic acid, caffeic acid, dihydrotanshinone Ⅰ, salvianolic acid B, tanshinone ⅡA, tanshinone Ⅰ, danshensu, Tf were positively correlated with neuronal fluorescence intensity in the zebrafish brain. And the contents of lithospermic acid, protocatechuic aldehyde, rosmarinic acid, dihydrotanshinone Ⅰ, salvianolic acid B, tanshinone ⅡA and Tf were negatively correlated with LDH, ROS and MDA levels and positively correlated with SOD level. ConclusionThere are differences in the anti-ischemic oxidative damage effects of SMRR and its different processed products, among which the porcine cardiac blood-processed products has the strongest effect on improving oxidative damage, which may be related to the content changes of salvianolic acid B, danshensu, rosmarinic acid and other components. This study can provide a basis for clarifying the quality markers of SMRR processed with porcine cardiac blood for cerebral ischemia and elucidating its processing mechanism.
8.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.
9.Clinical analysis of dual enhanced antiplatelet therapy after cerebrovascular intervention for reducing the risk of cerebral infarction recurrence
Yang LIU ; Yanying YIN ; Qiaoli LU ; Chen LI ; Chunyan ZHANG
Chinese Journal of Preventive Medicine 2024;58(7):1062-1068
To investigate the clinical assessment of dual-enhanced antiplatelet therapy after cerebrovascular intervention to reduce the risk of cerebral infarction recurrence, and to provide a reference for the prevention and treatment of cerebral infarction recurrence risk. 202 patients with cerebral infarction who underwent cerebrovascular intervention in Tianjin Fifth Central Hospital from January 2018 to October 2022 were selected as study subjects. The patients were divided into a treatment group ( n=104) based on randomized controlled single-blind method with 61 males and 43 females with a mean age of (62.33±2.57) years old and a control group ( n=98) with 56 males and 42 females with a mean age of (62.49±2.36) years old. The control group was given aspirin mono-antiplatelet therapy, and the treatment group was given clopidogrel doublet augmented antiplatelet therapy on the basis of the control group, and both groups continued the treatment for 2 months. Platelet counts, coagulation indexes and inflammatory factors were compared between the two groups before and after treatment, and the America National Institutes of Health Stroke Scale (NIHSS) score was used to assess the neurological functions of the two groups before and after treatment, and the recurrence of cerebral infarction in the two groups was counted within 6 months after treatment. In addition, the patients in the treatment group were divided into the cerebral infarction recurrence group and the cerebral infarction non-recurrence group according to whether they had cerebral infarction recurrence within 6 months after treatment, and the clinical data of the patients in the treatment group were collected to analyze the influencing factors of the dual-enhancement antiplatelet therapy for the recurrence of cerebral infarction in patients with cerebral infarction after cerebral vascular intervention by multifactorial logistic regression. The results showed that after treatment, patients in the treatment group had an international normalized ratio (INR) of (1.76±0.38), a platelet activation rate of (39.52±4.79)%, a platelet aggregation rate of (48.54±5.21)%, a tumor necrosis factor-alpha (TNF-alpha) of (28.37±4.47)ng/L, an interleukin 6 (IL-6) of (24.77±3.52)ng/L, a high-sensitivity C-reactive protein (hs-CRP) of (7.39±1.53)mg/L and an NIHSS score of (6.11±1.39) were lower than those of the control group (2.32±0.41), (44.81±6.37)%, (51.39±5.58)%, (39.66±4.51) ng/L, (29.25±4.04) ng/L, (9.03±1.78) mg/L and (9.93±1.46) points (all P<0.05). At 6-month follow-up of all patients, cerebral infarction recurred in 16 (15.38%) patients in the treatment group and in 33 (33.67%) patients in the control group ( χ2=9.185, P<0.05). Kaplan-Meier results showed a statistically significant difference in the rate of recurrence without cerebral infarction in the treatment group compared with the control group(LogRank χ2=4.595, P<0.05). Logistic regression analysis showed that smoking history, cervical vascular plaque, post-treatment NIHSS score, post-treatment stenosis score, post-treatment INR, post-treatment hs-CRP and CYP2C19 gene polymorphism were independent influences on the recurrence of cerebral infarction in cerebral infarction patients with cerebral vascular interventions followed by doublet augmentation of antiplatelet therapy (all P<0.05). In conclusion, dual-enhanced antiplatelet therapy may be an effective measure to reduce the risk of cerebral infarction recurrence after cerebrovascular intervention in patients with cerebral infarction, but it is still influenced by more factors.
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.


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