1.Effects of Guilu Erxian Glue on gut microbiota in rats with knee osteoarthritis:machine learning and 16S rDNA analysis
Fucheng GU ; Meixin YANG ; Weixin WU ; Weijun CAI ; Yangyi QIN ; Mingyi SUN ; Jian SUN ; Qiudong GENG ; Nan LI
Chinese Journal of Tissue Engineering Research 2026;30(4):1058-1072
BACKGROUND:The Guilu Erxian Glue consists of Testudinis Plastrum,Cornu Cervi,Lycii Fructus,and Ginseng Radix.In earlier clinical observations,it is discovered that using Guilu Erxian Glue to treat patients with liver-kidney deficiency type knee osteoarthritis effectively alleviated knee pain,increased the range of motion,and improved walking ability.However,the exact mechanism by which oral administration of Guilu Erxian Glue can produce local therapeutic effects on the knee joint is still unclear.OBJECTIVE:To investigate the effects of Guilu Erxian Glue on gut microbiota in rats with knee osteoarthritis and to evaluate its mechanism using 16S rDNA sequencing and machine learning analysis.METHODS:Totally 18 female SD rats were randomly divided into three groups:blank group,model group,and Guilu Erxian Glue group,with 6 rats in each group.A knee osteoarthritis model was prepared using the destabilization of the medial meniscus surgical method.After successful modeling,the Guilu Erxian Glue group was given a decoction of Guilu Erxian Glue by gavage,while the blank and model groups were given an equal amount of distilled water.After 28 days of continuous intervention,high performance liquid chromatography was used to detect the active ingredients of Guilu Erxian Glue.MRI imaging was used to observe the condition of rat knee articular cartilage.Fecal samples were collected;DNA was extracted using a kit,amplified and purified by PCR,and an Illumina sequencing library was constructed.The Illumina MiSeq platform was used for high-throughput sequencing to generate raw sequence data.After obtaining the raw data,QIIME2 software was used to process the data.Linear Discriminant Analysis Effect Size analysis and random forest algorithm were used to screen for differential species in microbial data.KEGG and MetaCyc functional pathway analyses were used to explore the association between key microbial communities and experimental groups.Linear discriminant analysis effect values and random forest algorithm were used to screen for differential species.Association networks were used to analyze the interactions between microbial communities,and machine learning methods were used to analyze the composition and changes of gut microbiota.RESULTS AND CONCLUSION:(1)LC-MS component identification was conducted on the traditional Chinese medicine formula of Guilu Erxian Glue,and a total of 7 effective ingredients were identified.(2)MRI imaging showed that synovitis scope of high-density shadows in rats of the Guilu Erxian Glue group was reduced,and the degeneration of medial femoral condyle cartilage was less than that in the model group.(3)16S rDNA sequencing showed that the model group rats exhibited significant microbial imbalance,with a significant decrease in the abundance of Firmicutes and Bacteroidetes at the phylum level,while the proportion of Proteobacteria increased significantly(P<0.05).The gut microbiota structure of rats in the Guilu Erxian Glue group was significantly improved,and the proportion of Firmicutes and Bacteroidetes increased,restoring a more diverse microbiota composition,approaching that of the blank group(P<0.05).(4)KEGG and MetaCyc functional pathway analysis showed that the Guilu Erxian Glue group significantly activated multiple metabolic pathways,including amino acid metabolism,lipid metabolism,and biotin synthesis pathways(P<0.05).(5)The results indicate that Guilu Erxian Glue contains seven active ingredients,and the changes in gut microbiota of knee osteoarthritis rats were analyzed using 16S rDNA sequencing.Guilu Erxian Glue can significantly improve the imbalance of gut microbiota,restore the abundance of beneficial bacteria,and have a significant impact on the composition of gut microbiota,providing scientific basis for the efficacy and mechanism of Guilu Erxian Glue.
2.Effects of Guilu Erxian Glue on gut microbiota in rats with knee osteoarthritis:machine learning and 16S rDNA analysis
Fucheng GU ; Meixin YANG ; Weixin WU ; Weijun CAI ; Yangyi QIN ; Mingyi SUN ; Jian SUN ; Qiudong GENG ; Nan LI
Chinese Journal of Tissue Engineering Research 2026;30(4):1058-1072
BACKGROUND:The Guilu Erxian Glue consists of Testudinis Plastrum,Cornu Cervi,Lycii Fructus,and Ginseng Radix.In earlier clinical observations,it is discovered that using Guilu Erxian Glue to treat patients with liver-kidney deficiency type knee osteoarthritis effectively alleviated knee pain,increased the range of motion,and improved walking ability.However,the exact mechanism by which oral administration of Guilu Erxian Glue can produce local therapeutic effects on the knee joint is still unclear.OBJECTIVE:To investigate the effects of Guilu Erxian Glue on gut microbiota in rats with knee osteoarthritis and to evaluate its mechanism using 16S rDNA sequencing and machine learning analysis.METHODS:Totally 18 female SD rats were randomly divided into three groups:blank group,model group,and Guilu Erxian Glue group,with 6 rats in each group.A knee osteoarthritis model was prepared using the destabilization of the medial meniscus surgical method.After successful modeling,the Guilu Erxian Glue group was given a decoction of Guilu Erxian Glue by gavage,while the blank and model groups were given an equal amount of distilled water.After 28 days of continuous intervention,high performance liquid chromatography was used to detect the active ingredients of Guilu Erxian Glue.MRI imaging was used to observe the condition of rat knee articular cartilage.Fecal samples were collected;DNA was extracted using a kit,amplified and purified by PCR,and an Illumina sequencing library was constructed.The Illumina MiSeq platform was used for high-throughput sequencing to generate raw sequence data.After obtaining the raw data,QIIME2 software was used to process the data.Linear Discriminant Analysis Effect Size analysis and random forest algorithm were used to screen for differential species in microbial data.KEGG and MetaCyc functional pathway analyses were used to explore the association between key microbial communities and experimental groups.Linear discriminant analysis effect values and random forest algorithm were used to screen for differential species.Association networks were used to analyze the interactions between microbial communities,and machine learning methods were used to analyze the composition and changes of gut microbiota.RESULTS AND CONCLUSION:(1)LC-MS component identification was conducted on the traditional Chinese medicine formula of Guilu Erxian Glue,and a total of 7 effective ingredients were identified.(2)MRI imaging showed that synovitis scope of high-density shadows in rats of the Guilu Erxian Glue group was reduced,and the degeneration of medial femoral condyle cartilage was less than that in the model group.(3)16S rDNA sequencing showed that the model group rats exhibited significant microbial imbalance,with a significant decrease in the abundance of Firmicutes and Bacteroidetes at the phylum level,while the proportion of Proteobacteria increased significantly(P<0.05).The gut microbiota structure of rats in the Guilu Erxian Glue group was significantly improved,and the proportion of Firmicutes and Bacteroidetes increased,restoring a more diverse microbiota composition,approaching that of the blank group(P<0.05).(4)KEGG and MetaCyc functional pathway analysis showed that the Guilu Erxian Glue group significantly activated multiple metabolic pathways,including amino acid metabolism,lipid metabolism,and biotin synthesis pathways(P<0.05).(5)The results indicate that Guilu Erxian Glue contains seven active ingredients,and the changes in gut microbiota of knee osteoarthritis rats were analyzed using 16S rDNA sequencing.Guilu Erxian Glue can significantly improve the imbalance of gut microbiota,restore the abundance of beneficial bacteria,and have a significant impact on the composition of gut microbiota,providing scientific basis for the efficacy and mechanism of Guilu Erxian Glue.
3.Clinical Analysis of Mifepristone Pretreatment Combined with Delayed Hystero-scopic Surgery for Retained Products of Conception Complicated with En-hanced Myometrial Vascularity
Fucheng YANG ; Rui SHI ; Shuxian FENG
Journal of Practical Obstetrics and Gynecology 2025;41(11):950-954
Objective:To investigate the clinical efficacy of mifepristone pretreatment combined with delayed hysteroscopic surgery for retained products of conception(RPOC)complicated with enhanced myometrial vascu-larity(EMV),aiming to reduce intraoperative bleeding risk and improve patient outcomes.Methods:A retrospec-tive analysis was conducted on clinical data from 65 RPOC patients with EMV treated between June 2014 and June 2024.Patients were divided into an observation group(mifepristone pretreatment+hysteroscopic surgery,n=34)and a control group(hysteroscopic surgery alone,n=31)based on treatment approach.Patients in the observation group received oral mifepristone(25 mg/d)preoperatively until beta-human chorionic gonadotropin(β-hCG)decreased by≥50%or treatment reached 30 days,with surgery performed when β-hCG fell to<200 U/L or EMV area shrank by>50%.Intraoperative blood loss,operation time,reduction in β-hCG levels,degree of EMV regression,and surgical complication rates were compared between the two groups.Results:Intraoperative blood loss was significantly lower in the observation group than in the control group(20.0 ml vs.40.0 ml,P<0.05),op-eration time was shorter(27.38±8.00 min vs.35.45±8.50 min,P<0.05),and transfusion rate was lower(2.94%vs.19.35%,P<0.05).At 2 weeks postoperatively,both the reduction in β-hCG levels(1395.17 U/L vs.276.56 U/L,P<0.05)and the degree of EMV regression(11.6 cm2 vs.5.0 cm2,P<0.05)were significantly bet-ter in the observation group,with effect sizes quantified as large(Cohen's d=1.85)and very large(Cohen's d=3.47),respectively.The incidence of severe complications(Grade Ⅱ+Ⅲ)was significantly lower in the observa-tion group(2.94%vs.22.58%,P<0.05),but the reintervention rate showed no statistical difference(2.94%vs.12.90%,P=0.299).Conclusions:Mifepristone pretreatment creates safer conditions for hysteroscopic surgery by reducing β-hCG levels and shrinking the EMV area.It significantly reduces intraoperative bleeding,shortens op-eration time,and lowers the incidence of severe complications,making it an effective treatment strategy for RPOC patients complicated with EMV.
4.Clinical Analysis of Mifepristone Pretreatment Combined with Delayed Hystero-scopic Surgery for Retained Products of Conception Complicated with En-hanced Myometrial Vascularity
Fucheng YANG ; Rui SHI ; Shuxian FENG
Journal of Practical Obstetrics and Gynecology 2025;41(11):950-954
Objective:To investigate the clinical efficacy of mifepristone pretreatment combined with delayed hysteroscopic surgery for retained products of conception(RPOC)complicated with enhanced myometrial vascu-larity(EMV),aiming to reduce intraoperative bleeding risk and improve patient outcomes.Methods:A retrospec-tive analysis was conducted on clinical data from 65 RPOC patients with EMV treated between June 2014 and June 2024.Patients were divided into an observation group(mifepristone pretreatment+hysteroscopic surgery,n=34)and a control group(hysteroscopic surgery alone,n=31)based on treatment approach.Patients in the observation group received oral mifepristone(25 mg/d)preoperatively until beta-human chorionic gonadotropin(β-hCG)decreased by≥50%or treatment reached 30 days,with surgery performed when β-hCG fell to<200 U/L or EMV area shrank by>50%.Intraoperative blood loss,operation time,reduction in β-hCG levels,degree of EMV regression,and surgical complication rates were compared between the two groups.Results:Intraoperative blood loss was significantly lower in the observation group than in the control group(20.0 ml vs.40.0 ml,P<0.05),op-eration time was shorter(27.38±8.00 min vs.35.45±8.50 min,P<0.05),and transfusion rate was lower(2.94%vs.19.35%,P<0.05).At 2 weeks postoperatively,both the reduction in β-hCG levels(1395.17 U/L vs.276.56 U/L,P<0.05)and the degree of EMV regression(11.6 cm2 vs.5.0 cm2,P<0.05)were significantly bet-ter in the observation group,with effect sizes quantified as large(Cohen's d=1.85)and very large(Cohen's d=3.47),respectively.The incidence of severe complications(Grade Ⅱ+Ⅲ)was significantly lower in the observa-tion group(2.94%vs.22.58%,P<0.05),but the reintervention rate showed no statistical difference(2.94%vs.12.90%,P=0.299).Conclusions:Mifepristone pretreatment creates safer conditions for hysteroscopic surgery by reducing β-hCG levels and shrinking the EMV area.It significantly reduces intraoperative bleeding,shortens op-eration time,and lowers the incidence of severe complications,making it an effective treatment strategy for RPOC patients complicated with EMV.
5.Three-dimensional finite element analysis of effects of partial anterior cruciate ligament rupture on knee joint stress
Junliang YANG ; Tan LU ; Biao XU ; Yaqiong JIANG ; Fucheng WANG
Chinese Journal of Tissue Engineering Research 2024;28(9):1347-1353
BACKGROUND:Anterior cruciate ligament injury tends to lead to secondary meniscus injury and osteoarthritis.At present,there are few studies on the mechanics of meniscus and articular cartilage injury caused by anterior cruciate ligament injury. OBJECTIVE:To study the effect of partial rupture of the anterior cruciate ligament on the stress of medial and lateral meniscus and articular cartilage of knee joint by finite element analysis. METHODS:The CT and MRI images of the knee joint of a healthy volunteer were selected,and the scan data were imported into Mimics,Geomagic and SolidWorks software.After registration and fusion,four kinds of three-dimensional knee joint models were established:models of intact anterior cruciate ligament,rupture of the posterior external tract of anterior cruciate ligament,rupture of the anterior internal tract of anterior cruciate ligament,and absence of anterior cruciate ligament.Finally,data were imported into Ansys software to apply four different modes of loads to the knee joint:Longitudinal loads of 750 N were applied to the top of the femur;longitudinal load of 750 N to the top of the femur and forward thrust of 134 N behind tibia;a longitudinal load of 750 N and a varus moment of 10 Nm were applied to the top of the femur to simulate genu varus;750 N longitudinal load and 4 Nm internal rotation moment were applied to the proximal end of the femur to simulate knee internal rotation.The finite element analysis of biomechanical stress changes of the meniscus and articular cartilage of the knee joint was carried out. RESULTS AND CONCLUSION:(1)In the straight position of the knee joint,when the anterior medial tract of the anterior cruciate ligament was broken and the anterior cruciate ligament was missing under longitudinal loads of 750 N at the top of the femur,the total stress and peak value of meniscus increased significantly,but the stress distribution of the meniscus and the stress of articular cartilage did not change significantly.In longitudinal load of 750 N to the top of the femur and forward thrust of 134 N behind tibia,the fracture of the anterior internal tract of the anterior cruciate ligament increased the tibia forward,the compressive stress of posterior angle of the meniscus increased,and the stress of the articular cartilage did not change significantly.During simulating genu varus,the posterior angular stress of the lateral meniscus decreased,the stress of the medial meniscus increased,and the stress of articular cartilage slightly decreased when anterior cruciate ligament injuries were complete.When the anterior internal tract of the anterior cruciate ligament was broken or absent under knee internal rotation,the equivalent stress peak value of femoral cartilage and tibia cartilage shifted from medial cartilage to lateral cartilage,and the stress peak value of meniscus increased significantly.At this time,the anterior internal tract of the anterior cruciate ligament played a leading role in the rotational stability of the knee joint.(2)These results indicate that the risk of secondary meniscus injury in patients with anterior and medial anterior cruciate ligament band rupture was much higher than that in patients with posterior and external anterior cruciate ligament band rupture when the knee was in the upright standing position,varus and pronation,and there was no significant difference in the impact on articular cartilage.
6.Association between temperature and mortality: a multi-city time series study in Sichuan Basin, southwest China.
Yizhang XIA ; Chunli SHI ; Yang LI ; Shijuan RUAN ; Xianyan JIANG ; Wei HUANG ; Yu CHEN ; Xufang GAO ; Rong XUE ; Mingjiang LI ; Hongying SUN ; Xiaojuan PENG ; Renqiang XIANG ; Jianyu CHEN ; Li ZHANG
Environmental Health and Preventive Medicine 2024;29():1-1
BACKGROUND:
There are few multi-city studies on the association between temperature and mortality in basin climates. This study was based on the Sichuan Basin in southwest China to assess the association of basin temperature with non-accidental mortality in the population and with the temperature-related mortality burden.
METHODS:
Daily mortality data, meteorological and air pollution data were collected for four cities in the Sichuan Basin of southwest China. We used a two-stage time-series analysis to quantify the association between temperature and non-accidental mortality in each city, and a multivariate meta-analysis was performed to obtain the overall cumulative risk. The attributable fractions (AFs) were calculated to access the mortality burden attributable to non-optimal temperature. Additionally, we performed a stratified analyses by gender, age group, education level, and marital status.
RESULTS:
A total of 751,930 non-accidental deaths were collected in our study. Overall, 10.16% of non-accidental deaths could be attributed to non-optimal temperatures. A majority of temperature-related non-accidental deaths were caused by low temperature, accounting for 9.10% (95% eCI: 5.50%, 12.19%), and heat effects accounted for only 1.06% (95% eCI: 0.76%, 1.33%). The mortality burden attributable to non-optimal temperatures was higher among those under 65 years old, females, those with a low education level, and those with an alternative marriage status.
CONCLUSIONS
Our study suggested that a significant association between non-optimal temperature and non-accidental mortality. Those under 65 years old, females, and those with a low educational level or alternative marriage status had the highest attributable burden.
Female
;
Humans
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China/epidemiology*
;
Cities
;
Cold Temperature
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Hot Temperature
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Mortality
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Temperature
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Time Factors
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Middle Aged
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Male
7.Combined medial plantar flap and groin flap for reconstruction of heel soft tissue defects
Dengwen GAO ; Yaojun WANG ; Zhongliang REN ; Jiajie XUE ; Lei GUO ; Qingye HAO ; Fucheng GAO ; Jie YANG
Chinese Journal of Plastic Surgery 2022;38(1):69-73
Objective:To investigate the clinical effect of medial plantar flap combined with free groin flap in the reconstruction of heel defect.Methods:The patients with heel skin and soft tissue defects admitted to the Department of Burns & Plastic and Hand & Foot Surgery of Yulin No.2 Hospital from October 2015 to December 2020 were retrospectively analyzed. After emergency debridement, a plantar medial island flap was used to repair the foot heel defect, a free groin flap was used to repair the medial plantar donor site, and the groin donor site was closed primarily. Postoperatively routine anti-infection, spasmolysis, anticoagulation, expanding treatment were performed after the procedure. The blood supply, survival of the flap, and the healing of the donor area of the flap were observed. The shape and function of the heel were observed in follow-up.Results:Eight patients were enrolled, including 7 males and 1 female, aged from 20 to 71 years, with an average of 32.2 years. There were 5 cases of heel trauma, 1 case of heel squamous cell carcinoma, 1 case of heel frostbite, and 1 case of heel ulcer. The wound area of the heel was 4 cm×3 cm-7 cm×6 cm. The surgical procedure was smooth, and the incision range of the heel island flap and groin flap was 0.5-1.0 cm larger than that of the heel wound. All 8 patients had primary healing after the operation. Follow-up for 3-12 months showed that all patients were satisfied with heel shape, sensory function and walking function. There was no depression, scar hyperplasia, and contracture in the medial plantar donor area, and no local skin ulcer. There is only a linear scar in the groin donor area.Conclusions:Medial plantar island flap combined with a free groin flap can repair the defect of the heel, and the affected foot has good healing, certain sensory function, and satisfactory curative effect.
8.Combined medial plantar flap and groin flap for reconstruction of heel soft tissue defects
Dengwen GAO ; Yaojun WANG ; Zhongliang REN ; Jiajie XUE ; Lei GUO ; Qingye HAO ; Fucheng GAO ; Jie YANG
Chinese Journal of Plastic Surgery 2022;38(1):69-73
Objective:To investigate the clinical effect of medial plantar flap combined with free groin flap in the reconstruction of heel defect.Methods:The patients with heel skin and soft tissue defects admitted to the Department of Burns & Plastic and Hand & Foot Surgery of Yulin No.2 Hospital from October 2015 to December 2020 were retrospectively analyzed. After emergency debridement, a plantar medial island flap was used to repair the foot heel defect, a free groin flap was used to repair the medial plantar donor site, and the groin donor site was closed primarily. Postoperatively routine anti-infection, spasmolysis, anticoagulation, expanding treatment were performed after the procedure. The blood supply, survival of the flap, and the healing of the donor area of the flap were observed. The shape and function of the heel were observed in follow-up.Results:Eight patients were enrolled, including 7 males and 1 female, aged from 20 to 71 years, with an average of 32.2 years. There were 5 cases of heel trauma, 1 case of heel squamous cell carcinoma, 1 case of heel frostbite, and 1 case of heel ulcer. The wound area of the heel was 4 cm×3 cm-7 cm×6 cm. The surgical procedure was smooth, and the incision range of the heel island flap and groin flap was 0.5-1.0 cm larger than that of the heel wound. All 8 patients had primary healing after the operation. Follow-up for 3-12 months showed that all patients were satisfied with heel shape, sensory function and walking function. There was no depression, scar hyperplasia, and contracture in the medial plantar donor area, and no local skin ulcer. There is only a linear scar in the groin donor area.Conclusions:Medial plantar island flap combined with a free groin flap can repair the defect of the heel, and the affected foot has good healing, certain sensory function, and satisfactory curative effect.
9.Parental origin of prenatally diagnosed pathogenic copy number variation in 56 pedigrees
Xin YANG ; Ru LI ; Fucheng LI ; Xiangyi JING ; Ruibin HUANG ; Dongzhi LI ; Can LIAO
Chinese Journal of Perinatal Medicine 2022;25(5):360-365
Objective:To investigate the prenatal management for pathogenic copy number variation (CNV) by analyzing the parental origin of CNV and pregnancy outcomes in 56 pedigrees.Methods:This study retrospectively analyzed the information of patients who received interventional prenatal diagnosis and chromosomal microarray analysis (CMA) at Guangzhou Women and Children's Medical Center from January 2015 to December 2020. The cases with pathogenic CNV indicated by CMA and receiving parental CMA for further verification were finally enrolled. Clinical data including prenatal diagnostic indications, chromosomal distribution of the pathogenic fragments and fragment sizes were collected and analyzed using t test. All cases were followed up by telephone and record review. Results:Fifty-six cases were included in this study. Pathogenic CNV in 13 (23.2%, 13/56) fetuses were inherited from one parent (eight from mothers and five from fathers), and mainly located in chromosomes 22 (3/13), 17 (3/11), 16 (2/7), 1 (2/4), and X (3/6) with fragment sizes all less than 3 Mb. The fragment size of inherited pathogenic CNV was significantly smaller than that of de novo CNV [1.69 (1.36-2.22) vs 7.54 (2.11-12.30) Mb, t=3.47, P=0.001]. Among the 43 cases with de novo pathogenic CNV, seven (16.3%) were lost to follow up and 35 (97.2%) terminated the pregnancy. The other one with a 0.58 Mb microruplication at 16p11.2 indicated at 37 gestational weeks gave birth to a baby weighting 2 900 g at 39 gestational weeks and no abnormalities were reported during an eight-month telephone follow-up. Two out of the 13 cases with inherited pathogenic CNV were lost to follow up and six pregnancies were terminated. The other five pregnancies were continued and babies were delivered with no abnormalities during a median follow-up period of 13 (4-15) months. Conclusion:Pathogenic CNV alone should not be the indication for pregnancy termination.
10.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
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Fetal Diseases
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Fetus/diagnostic imaging*
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Humans
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Pregnancy
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Prenatal Diagnosis
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Technology
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Ultrasonography, Prenatal
;
Whole Exome Sequencing

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