1.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
2.Mechanism of X-ray radiation-induced rat myocardial cell apoptosis based on miRNA-134-5p/BDNF/Akt signaling pathway
Jing GU ; Liwen FU ; Xiaofei HAN ; Dan FANG ; Ge JIN ; Xiaoli DONG ; Yahui XIE ; Min HOU
Academic Journal of Naval Medical University 2024;45(11):1352-1361
Objective To investigate the effect of radiation on cardiomyocyte apoptosis and its related mechanism.Methods Rat H9C2 cardiomyocytes were divided into blank control group,X-ray irradiation group(X-ray group),X-ray irradiation+microRNA(miRNA)-134-5p inhibitor group(X-inhibitor group)and X-ray irradiation+miRNA-134-5p inhibitor negative control group(X-NC group).H9C2 cardiomyocytes were irradiated with 6 Gy X-ray,and the changes of various indexes were detected 48 h after irradiation.Cell viability was detected by cell counting kit 8 assay.The apoptosis rate was detected by flow cytometry and Hoechst 33342 staining.The level of reactive oxygen species(ROS)in cells was detected by DCFH-DA fluorescence probe.The mitochondrial membrane potential was detected by JC-1 method.The activity of superoxide dismutase(SOD)and the level of malondialdehyde(MDA)in cells were measured by kits.The expression of miRNA-134-5p was detected by quantitative polymerase chain reaction.The protein expression of brain-derived neurotrophic factor(BDNF),protein kinase B(Akt),phosphorylated Akt(p-Akt),Bcl2 and Bax was detected by Western blotting.Results Compared with the blank control group,in the X-ray group the levels of ROS and MDA were significantly increased,the activity of SOD was significantly decreased,the decreased percentage in mitochondrial membrane potential was significantly increased,the number of micronuclei of DNA damage was significantly increased,and the apoptosis rate was significantly increased(all P<0.01).Compared with the X-ray group,all the indexes of the X-inhibitor group were reversed(P<0.05 or P<0.01),while there was no significant difference in the above parameters in the X-NC group(all P>0.05).Compared with the blank control group,the X-ray group had a significant increase in the miRNA-134-5p level and significant reductions in the protein level of BDNF,Bcl2/Bax ratio,and p-Akt/Akt ratio(all P<0.01).Compared with the X-ray group,the X-inhibitor group had a significant reduction in the level of miRNA-134-5p and significant increases in the protein level of BDNF,Bcl2/Bax ratio,and p-Akt/Akt ratio(all P<0.01),and there was no significant difference in all parameters in the X-NC group(all P>0.05).Conclusion X-ray irradiation can induce oxidative stress,mitochondrial damage,and DNA damage,eventually leading to apoptosis in rat cardiomyocytes,and the mechanism may involve miRNA-134-5p/BDNF/Akt signaling pathway.
3.Clinical trial of edaravone and dexborneol combined with rosuvastatin calcium in the treatment of patients with acute posterior circulation cerebral infarction
Tong XU ; Han-Dan SHI ; Lin-Lin SHAO ; Liang-Fu CHEN
The Chinese Journal of Clinical Pharmacology 2024;40(7):949-953
Objective To observe the clinical effect and safety of edaravone and dexborneol concentrated solution for injection combined with rosuvastatin calcium capsules in the treatment of patients with acute posterior circulation cerebral infarction.Methods Patients with acute posterior circulation cerebral infarction were divided into control group and treatment group according to cohort method.The control group was treated with rosuvastatin calcium 5 mg,while the treatment group was treated with intravenous drip of edaravone and dexborneol concentrated solution for injection 15 mL on the basis of control group.The clinical effect,neurological function,biochemical indicators,oxidative stress response indicators,the levels of Toll like receptor 4/nuclear factor κB(TLR4/NF-κB)signaling pathway molecules,prognosis,and adverse drug reactions were compared between the two groups.Results There were 49 cases in control group and 51 cases in treatment group.After treatment,the total effective rates in treatment group and control group were 92.16%(47 cases/51 cases)and 77.55%(38 cases/49 cases),with statistically significant difference(P<0.05).After treatment,the levels of neuron specific enolase in treatment group and control group were(11.67±1.35)and(16.77±1.94)μg·L-1;the levels of central nervous system-specific protein were(1.01±0.12)and(1.54±0.16)μg·L-1;the levels of low density lipoprotein cholesterol were(2.03±0.24)and(3.74±0.38)mmol·L-1;the levels of triglyceride were(1.28±0.14)and(2.12±0.23)mmol·L-1;the levels of total cholesterol were(3.11±0.32)and(4.15±0.42)mmol·L-1;the levels of creatine kinase isozyme were(8.76±1.02)and(10.12±1.06)U·L-1;the levels of high-sensitivity C-reactive protein were(11.01±1.25)and(15.32±1.64)mg·L-1;the levels of serum reactive oxygen species were(387.68±39.24)and(473.11±48.23)μmol·L-1;the levels of malondialdehyde were(3.02±0.39)and(4.14±0.45)nmol·mL-1;the levels of superoxide dismutase were(59.24±6.05)and(41.67±4.97)U·mL-1;the relative expression levels of TLR4 mRNA were 0.26±0.03 and 0.43±0.04;the relative expression levels of NF-KB mRNA were 0.17±0.02 and 0.25±0.03;the modified Rankin scale scores were 2.02±0.29 and 2.94±0.30;the activity of daily living scores were 56.34±5.74 and 45.64±4.69.The above indexes were significantly different between control group and treatment group(all P<0.05).The total incidence of adverse drug reactions in treatment group and control group were 31.37%and 26.53%,with no statistically significant difference between the two groups(P>0.05).Conclusion Edaravone and dexborneol concentrated solution for injection combined with rosuvastatin calcium capsules is effective in the treatment of patients with acute posterior circulation cerebral infarction,and can effectively regulate the patients'neurological function,oxidative stress response,blood lipid levels and TLR4/NF-κB signaling pathway molecules,and significantly improve the prognosis.
4.Identification of differentially expressed proteins in hippocampal injury induced by liver ischemia-reperfusion in rats
Wenhui HAN ; Lili JIA ; Yutang FU ; Junpeng LIU ; Ying SUN ; Mingwei SHENG ; Dan LYU ; Tao ZHANG ; Wenli YU
Chinese Journal of Anesthesiology 2024;44(11):1369-1374
Objective:To identify the differentially expressed proteins that caused hippocampal damage after liver ischemia-reperfusion (I/R) in rats.Methods:Eighteen clean-grade healthy juvenile male Sprague-Dawley rats, aged 2 weeks, weighing 20-30 g, were divided into 2 groups ( n=9 each) using a random number table method: sham operation group (S group) and liver I/R group (IR group). A rat model of liver I/R injury was prepared by restoring perfusion after 1 h of liver ischemia. The rats were sacrificed after being anesthetized at day 3 of reperfusion, and the hippocampal tissue was isolated and analyzed to obtain gene expression profiles. Differentially expressed genes were identified using the R software, and further protein interaction networks were constructed through Cytoscape and Kyoto Encyclopedia Genes and Genomes pathway analysis to determine the differentially expressed proteins. Quantitative real-time polymerase chain reaction and Western blot were used for validation. Results:A total of 45 differentially expressed proteins were identified by the proteomic analysis of hippocampal tissues, including 36 significantly up-regulated proteins and 9 significantly down-regulated proteins. The proteins with significant expression related to injury were identified from the PPI network complex using the CytoHubBA plug-in cystscape: Ras-related C3 botulinum toxin substrate (RAC2), HRAS, phosphatidylinositol-3-kinase inhibitor phosphatase and tensin homologue (PTEN), and N-methyl-D-aspartate ionotropic glutamate receptor 2b (GRIN2b). The results of quantitative real-time polymerase chain reaction and Western blot showed that the expression of RAC2, HRAS, PTEN, and GRIN2b in the hippocampal tissue was significantly up-regulated in IR group compared with S group ( P<0.05). The results of Kyoto Encyclopedia of Genes and Genomes pathway analysis showed that differentially expressed proteins were significantly enriched in the expression of PD-L1 and its checkpoint pathway, long-term potentiation, and regulation of the Wnt signaling pathway in cancer. Conclusions:The mechanism by which liver I/R induces hippocampal injury may be related to the up-regulation of the expression of RAC2, HRAS, PTEN and GRIN2b in rats.
5.Impact of probiotics on the lung development of Bama minipig after premature birth.
Liang XIE ; Sen YANG ; Dan ZHOU ; Ting Ting CHEN ; Ying ZHANG ; Jing LU ; Qiu WANG ; Fang SHI ; Yang LIU ; Hong Ling FU ; Han Min LIU
Chinese Journal of Pediatrics 2022;60(4):297-301
Objectives: To examine the impact of probiotics on the lung development of preterm birth of Bama pig. Methods: From April 2020 to October 2021, this animal experimental research was performed by setting up preterm (birth at gestation 104 d), full-term (birth at gestation 113 d), preterm with probiotics (birth at gestation 104 d treated with probiotics given at 3 d after birth), and full-term with probiotics (birth at gestation 113 d treated with probiotics given at 3 d after birth) groups and using the preterm Bama minipig model, the body weights were recorded and lung, ileum, and intestinal content samples were collected at birth, 4 days, 9 days, and 21 days after births of the piglets in preterm and full-term groups, the same samples were collected on 9 days after births of the piglets in preterm with probiotics and full-term with probiotics groups. The body weight and radial alveolar counts (RAC) were compared to evaluate the lung development of the piglets. The lengths of ileal villus were compared to evaluate the development of ileum. The composition structures of bacteria in ileum were analyzed by 16 S rRNA sequencing. The statistical analyses between different groups were performed by t test. Results: There were totally 30 piglets (16 female piglets and 14 male piglets) involving 12 piglets in preterm and full-term groups respectively and 3 piglets in preterm with probiotics and full-term with probiotics groups respectively. The body weights of the piglets in preterm group were lower than those in full-term group at 4, 9 and 21 d after birth ((507±27) vs. (694±56) g, (620±35) vs. (1 092±154) g, (1 660±210) vs. (2 960±418) g,t=2.96, 2.99, 2.78, all P<0.05). The alveolarization of the preterm piglets at 9 days after birth was significantly lower than that of the full-term piglets at the equivalent time point (4.00±0.29 vs. 6.11±0.35, t=4.64, P<0.01). The bacteria genus with the highest abundance in ileum were all different between the preterm and the full-term groups at 4, 9 and 21 d after birth (4 d Escherichia-Shigella (26.63%) and Enterococcus (30.48%) respectively;9 d Turicibacter (35.94%) and Lactobacillus (27.33%) respectively;21 d Escherichia-Shigella (28.02%) and Lactobacillus (46.29%) respectively). The heights of ileal villus of the preterm piglets at 9 d after birth were significantly lower than those of the full-term minipigs at the equivalent time point ((297±21) vs. (411±32) μm, t=3.01, P=0.007).There were both no differences in the body weight and alveolarization ((692±36) vs. (767±67) g, 5.44±0.34 vs. 5.89±0.26, t=0.74, 1.04, both P>0.05) between the piglets in preterm with probiotics group and those in full-term with probiotics group. Turicibacter was the dominant genus in the piglets of both preterm with probiotics and the full-term with probiotics groups. The heights of ileal villus of the piglets in preterm with probiotics group were significantly longer that those of the piglets in preterm group ((371±13) vs. (297±21) μm, t=3.04, P=0.006), and were both not significantly different from those of the piglets in full-term with probiotics group and full-term group ((371±13) vs. (338±12) and (411±32) μm, t=1.90, 1.15, both P>0.05). Conclusions: Premature birth could impact the lung alveolarization of piglets. The probiotics could improve the lung alveolarization of preterm minipigs by promoting the development of ileum.
Animals
;
Body Weight
;
Female
;
Humans
;
Lung
;
Male
;
Pregnancy
;
Premature Birth
;
Probiotics/therapeutic use*
;
Swine
;
Swine, Miniature
6.Logistic regression analysis of risk factors related to severe imported falciparum malaria
Shuang WU ; Dan-ning WEN ; Shu-kun YU ; Shu PAN ; Dan XIE ; Ke-jiao LONG ; Chong FU ; Han-dan ZHENG ; Dan LUO ; Hua-dong LI
Journal of Public Health and Preventive Medicine 2022;33(6):72-75
Objective To explore and analyze the risk factors of severe falciparum malaria cases,and to provide evidence for early clinical prevention and intervention measures. Methods A total of 114 imported cases of falciparum malaria in Wuhan from March 2012 to November 2019 were selected,divided into mild group(n=87)and severe group(n=27),and logistic regression analysis was performed on the risk factors of severe disease. Results There were significant differences in length of stay, erythrocyte, hemoglobin, platelet, urea, creatinine, albumin, creatine kinase isoenzyme, lactate dehydrogenase, urine occulting blood and urine protein between mild group and severe group (P<0.05).Multivariate Logistic regression analysis showed that alanine aminotransferase (OR=0.167, 95%CI: 0.042-0.668), albumin (OR=24.843, 95% CI: 5.170-119.383), urea (OR=0.240,95%CI: 0.074-0.779) and occulted blood in urine (OR=0.204, 95%CI: 0.062-0.672) were independent influencing factors for the occurrence of severe falciparum malaria. Conclusion Patients with liver function damage and alanine aminotransferase increased by more than 2 times(≥80U/L),albumin decreased(<30g/L),renal function damage,increased urea nitrogen,hematuria and other abnormal results, the possibility of severe falsiparum malaria development should be highly suspected.
7.A study on personalized nutritional intervention based on nutritional assessment in long-term continuous nursing for elderly postoperative colorectal cancer patients
Chen FU ; Xin CUI ; Wei LIU ; Dan HAN ; Yingjie LU ; Wen XIAO ; Hongwei ZHU ; Haiyan XIE ; Kang YU
Chinese Journal of Clinical Nutrition 2022;30(5):287-293
Object:To explore the role of personalized nutritional intervention based on nutritional assessment in long-term continuous nursing of elderly postoperative colorectal cancer patients.Methods:Elderly patients with colorectal cancer who received radical surgery in a tertiary hospital in Beijing were screened from January 2021 to January 2022 and a total of 100 patients at nutritional risk (defined as with a Nutritional Risk Screening 2002 [NRS 2002] score ≥ 3) were included in the study. Patients were stratified by age and then divided into control and intervention groups with 50 cases in each. The control group received regular health guidance and follow-up visits at postoperative outpatient clinics while the intervention group received personalized nutritional intervention based on nutritional assessment additionally. The intervention period was 12 months. Nutritional indicators including body mass index (BMI), upper arm circumference, grip strength and hemoglobin, as well as albumin and quality of life (QoL), are compared between the two groups.Results:Compared with the control group, the intervention group showed significantly better results of BMI [(18.46±0.53) vs (16.9±0.77)], upper arm circumference [(25.09±1.41)cm vs (23.49±1.45)cm], grip strength [(28.34±8.00)kg vs (23.97±7.19)kg], HGB [(135.10±9.27)g/L vs (106.40±8.73)g/L] and ALB [(41.62±3.41)g/L vs (28.62±2.38)g/L, all P < 0.01]. The intervention group also had significantly higher scores in physical [(20.96±2.03) vs (15.66±0.82)], emotional [(21.48±1.64) vs (15.76±1.00)], social [(23.44±1.67) vs (15.96±0.99)], and functional [(20.74±1.74) vs (5.46±0.97)] domains of QoL (all P<0.01). Conclusion:In elderly patients with colorectal cancer after radical resection, personalized nutritional intervention based on nutritional assessment can effectively control nutritional indicators, help reduce the incidence of malnutrition, improve postoperative quality of life, and inform the establishment of standardized process in nutrition management.
8.Genetic Polymorphism of Antigens in Twelve Rare Blood Group Systems of Li Nationality in Hainan Province.
Xiao-Ling FU ; Xing-Quan CAI ; Shi-Ping YANG ; Bin WU ; Li-Ni WU ; Xing-Dan ZHAO ; Ai-Han WENG ; Lan XIA
Journal of Experimental Hematology 2021;29(3):917-923
OBJECTIVE:
To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province.
METHODS:
Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP).
RESULTS:
The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fy
CONCLUSION
The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.
Blood Group Antigens/genetics*
;
Ethnic Groups
;
Gene Frequency
;
Genotype
;
Humans
;
Kidd Blood-Group System
;
Polymorphism, Genetic
9.Application of whole exome sequencing technology in fetuses with congenital structural abnormalities.
Lushan LI ; Fang FU ; Ru LI ; Qiuxia YU ; Dan WANG ; Tingying LEI ; Qiong DENG ; Wenwen ZHANG ; Kun DU ; Xin YANG ; Jin HAN ; Li ZHEN ; Min PAN ; Li'na ZHANG ; Fucheng LI ; Yongling ZHANG ; Xiangyi JING ; Dongzhi LI ; Can LIAO
Chinese Journal of Medical Genetics 2021;38(9):900-906
OBJECTIVE:
To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities.
METHODS:
The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups.
RESULTS:
A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history.
CONCLUSION
For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.
Female
;
Fetal Diseases
;
Fetus/diagnostic imaging*
;
Humans
;
Pregnancy
;
Prenatal Diagnosis
;
Technology
;
Ultrasonography, Prenatal
;
Whole Exome Sequencing
10.Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing
Fang FU ; Lushan LI ; Kun DU ; Ru LI ; Qiuxia YU ; Dan WANG ; Tingying LEI ; Qiong DENG ; Zhiqiang NIE ; Wenwen ZHANG ; Xin YANG ; Jin HAN ; Li ZHEN ; Min PAN ; Lina ZHANG ; Fucheng LI ; Yongling ZHANG ; Xiangyi JING ; Dongzhi LI ; Can LIAO
Chinese Journal of Obstetrics and Gynecology 2021;56(7):458-466
Objective:To evaluate the value of whole exome sequencing (WES) in prenatal clinical application.Methods:A total of 1 152 cases of congenital abnormal [including structural malformation, nuchal translucency (NT) thickening and intrauterine growth restriction] with traditional prenatal diagnosis [including G-band karyotype analysis and chromosome microarray analysis (CMA)] negative were analyzed. The congenital abnormal fetuses were divided into retrospective group and prospective group according to the time of WES detection, that is whether the pregnancy termination or not. According to the specific location of fetal malformation and their family history, the cohort was divided into subgroups. The clinical prognosis of all fetuses were followed up, and the effect of WES test results on pregnancy decision-making and clinical intervention were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in the third trimester or after birth were re-analyzed.Results:Among 1 152 families who received WES, 5 families were excluded because of nonbiological parents. Among the remaining 1 147 families, 152 fetuses obtained positive diagnosis (13.3%,152/1 147), including 74 fetuses in the retrospective group (16.1%,74/460) and 78 fetuses in the prospective group (11.4%,78/687). In fetuses with negative CMA and G-band karyotype analysis results but new phenotypes in the third trimester or after birth, the positive rate by WES data re-analysis was 4.9% (8/163). A total of 34 (21.3%, 34/160) fetuses were directly affected by the corresponding positive molecular diagnosis. Among 68 cases of live births with diagnostic variation grade 4, 29 cases (42.7%, 29/68) received appropriate medical intervention through rapid review of WES results.Conclusions:WES could increase the detection rate of abnormal fetuses with negative G-banding karyotype analysis and CMA by 13.3%. Prenatal WES could guide pregnancy decision-making and early clinical intervention. It might be an effective strategy to pay attention to the special follow-up of the third trimester and postnatal fetus and to re-analyze the WES data.


Result Analysis
Print
Save
E-mail