Objective:To explore the diagnostic value of fetal echocardiography (ECHO) for ventricular septal defect (VSD) and the causes of missed diagnosis and misdiagnosis by analyzing the standard of ECHO sections and image quality.Methods:A retrospective analysis was conducted on 94 VSD fetuses diagnosed by ECHO at Xiangtan Maternal and Child Health Care Hospital from January 2022 to June 2024. Clinical data including the anatomic subtypes, associated anomalies, chromosomal karyotype results, pregnancy outcomes, and neonatal ECHO results were collected and analyzed. Besides, by reviewing the ultrasound images from the institution's ultrasound workstation, a descriptive analysis was conducted on the ECHO section criteria and image quality in the missed and misdiagnosed cases.Results:Among 10 984 fetuses undergoing ECHO, a total of 94 cases of fetal VSD were detected (0.7%), including 45 (48%) isolated VSD and 49 (52%) non-isolated VSD cases. Anatomic distribution revealed perimembranous type predominance (67, 71%), followed by muscular (24, 26%), subarterial types (2, 2%), and perimembranous+muscular type (1, 1%). Among 29 missed diagnosis cases (fetal ECHO-negative but neonatal ECHO-confirmed VSDs), all were isolated VSD, muscular types accounted for 19 (66%), perimembranous types for 8 (27%), and subarterial types for 2 (7%). The causes of missed diagnosis include: technical limitation in 14 cases (48%), restricted cardiac acoustic window in 11 cases (38%), and operator-dependent factors in four cases (14%). All 18 misdiagnosed cases occurred in isolated VSD, with 15 cases of perimembranous and three cases of muscular types. The causes of misdiagnosis include: nine cases due to non-perpendicular beam alignment to perimembranous septum, six cases due to excessively high color flow gain,and three cases due to the misinterpretation of the right ventricular outflow tract flow above the aortic valve as VSD septal perforation blood flow. The sensitivity and specificity of fetal ECHO for diagnosing VSD were 76.42% and 99.83%. Among the 94 cases of fetal VSD, 38 cases (40%) underwent chromosomal karyotype analysis and chromosomal microarray analysis, which identified chromosomal karyotype abnormalities or pathogenic gene variants in 4/16 non-isolated VSDs (all perimembranous), while no anomalies were detected in 22 isolated VSDs. Pregnancy outcomes showed 31 terminations due to associated structural or chromosomal abnormalities versus 63 live births. In the live births, who underwent echocardiography in the neonatal period, 19 cases (30%) showed no VSD and were considered to have undergone spontaneous in utero closure, and persistent defects were found in 44 (70%).Conclusions:Fetal ECHO demonstrates high sensitivity and specificity in the diagnosis of fetal VSD. Critical quality control measures include individualized parameter adjustment and systematic multiplanar continuous scanning to minimize diagnostic errors. Isolated small and medium-sized muscular and perimembranous VSD usually have a good prognosis.

OBJECTIVES: The diagnostic value of ultrasonographic quantitative indicators of umbilical cord coiling, such as the umbilical coiling index (UCI) and pitch value, in identifying hypercoiling and predicting adverse pregnancy outcomes remains controversial. This study aims to evaluate the predictive value of UCI, pitch value, and the cerebroplacental ratio in pregnancies complicated by umbilical cord hypercoiling. METHODS: Pregnant women with densely coiled umbilical cords identified by routine obstetric ultrasound at Changsha Maternal and Child Health Hospital between November 2022 and November 2024 were enrolled. Complete clinical data, including UCI, pitch value, and cerebroplacental ratio (CPR), were collected. Pregnancy outcome scores were calculated, and newborns were categorized into the normal outcome group (n=177) and adverse outcome group (n=85), with the latter further subdivided into mild (n=51), moderate (n=19), and severe (n=15) subgroups. Differences in baseline data, UCI, pitch value, and incidence of CRP<1 were compared between groups and among subgroups. Correlations between UCI, pitch value, and adverse pregnancy outcomes were analyzed. Receiver operating characteristic (ROC) curve were used to assess the predictive performance of UCI, pitch value, CPR<1, and their combinations. RESULTS: Compared with the normal outcome group, the adverse outcome group had higher age, parity, parity, incidence of CPR<1, and UCI, while gestational age at delivery and pitch values were lower (all P<0.05). The incidence of obesity, gestational diabetes mellitus, and hypertensive disorders of pregnancy did not differ significantly between the 2 groups (all P>0.05). The normal outcome group showed lower UCI and higher pitch values than all 3 adverse outcome subgroups (all P<0.05), while differences among the 3 adverse subgroups were not significant (all P>0.05). UCI was positively correlated with adverse pregnancy outcomes (r_s=0.350, P<0.05), whereas pitch value was negatively correlated (r_s=-0.286, P<0.05). ROC curve analysis showed that the area under the curve (AUC) values for predicting adverse outcomes were 0.837 for UCI, 0.886 for pitch value, and 0.610 for CPR<1, with sensitivities of 77.6%, 82.4%, and 27.1% and specificities of 78.5%, 83.6%, and 94.9%, respectively. The combined UCI+CPR<1 and pitch value+CPR<1 models yielded AUCs of 0.841 and 0.886, with sensitivities of 78.8% and 81.2% and specificities of 78.5% and 84.2%, respectively. No significant differences were found between the AUCs of UCI and pitch value (P>0.05), but both outperformed CPR<1 alone (both P<0.001). The combined models showed no significant improvement over UCI or pitch value alone (both P>0.05), though both were superior to CPR<1 alone (both P<0.001). CONCLUSIONS Most umbilical cord hypercoiling cases had favorable outcomes, with UCI, pitch value, CPR<1 and their combinations demonstrating significant predictive value for adverse pregnancy outcomes.
Humans ; Female ; Pregnancy ; Pregnancy Outcome ; Adult ; Ultrasonography, Prenatal/methods* ; Umbilical Cord/diagnostic imaging* ; Hemodynamics ; Predictive Value of Tests ; Infant, Newborn ; ROC Curve

Objective:To explore the diagnostic value of fetal echocardiography (ECHO) for ventricular septal defect (VSD) and the causes of missed diagnosis and misdiagnosis by analyzing the standard of ECHO sections and image quality.Methods:A retrospective analysis was conducted on 94 VSD fetuses diagnosed by ECHO at Xiangtan Maternal and Child Health Care Hospital from January 2022 to June 2024. Clinical data including the anatomic subtypes, associated anomalies, chromosomal karyotype results, pregnancy outcomes, and neonatal ECHO results were collected and analyzed. Besides, by reviewing the ultrasound images from the institution's ultrasound workstation, a descriptive analysis was conducted on the ECHO section criteria and image quality in the missed and misdiagnosed cases.Results:Among 10 984 fetuses undergoing ECHO, a total of 94 cases of fetal VSD were detected (0.7%), including 45 (48%) isolated VSD and 49 (52%) non-isolated VSD cases. Anatomic distribution revealed perimembranous type predominance (67, 71%), followed by muscular (24, 26%), subarterial types (2, 2%), and perimembranous+muscular type (1, 1%). Among 29 missed diagnosis cases (fetal ECHO-negative but neonatal ECHO-confirmed VSDs), all were isolated VSD, muscular types accounted for 19 (66%), perimembranous types for 8 (27%), and subarterial types for 2 (7%). The causes of missed diagnosis include: technical limitation in 14 cases (48%), restricted cardiac acoustic window in 11 cases (38%), and operator-dependent factors in four cases (14%). All 18 misdiagnosed cases occurred in isolated VSD, with 15 cases of perimembranous and three cases of muscular types. The causes of misdiagnosis include: nine cases due to non-perpendicular beam alignment to perimembranous septum, six cases due to excessively high color flow gain,and three cases due to the misinterpretation of the right ventricular outflow tract flow above the aortic valve as VSD septal perforation blood flow. The sensitivity and specificity of fetal ECHO for diagnosing VSD were 76.42% and 99.83%. Among the 94 cases of fetal VSD, 38 cases (40%) underwent chromosomal karyotype analysis and chromosomal microarray analysis, which identified chromosomal karyotype abnormalities or pathogenic gene variants in 4/16 non-isolated VSDs (all perimembranous), while no anomalies were detected in 22 isolated VSDs. Pregnancy outcomes showed 31 terminations due to associated structural or chromosomal abnormalities versus 63 live births. In the live births, who underwent echocardiography in the neonatal period, 19 cases (30%) showed no VSD and were considered to have undergone spontaneous in utero closure, and persistent defects were found in 44 (70%).Conclusions:Fetal ECHO demonstrates high sensitivity and specificity in the diagnosis of fetal VSD. Critical quality control measures include individualized parameter adjustment and systematic multiplanar continuous scanning to minimize diagnostic errors. Isolated small and medium-sized muscular and perimembranous VSD usually have a good prognosis.

Objective To investigate the role and prognostic value of matrix metalloproteinase-7(MMP7)in the migration and immune cell infiltration of hepatocellular carcinoma.Methods MMP7_siRNA for downregulating the target gene MMP7 and pMMP7 for upregulating MMP7 were constructed and were used to transfect hepatocellular carcinoma cell line(MHCC97H).RT-qPCR and Western Blot were used to measure the mRNA and protein expression levels of the target gene in cells.Scanning electron microscopy and Transwell assay were used to observe the changes in cell pseudopodia and migration ability,and bioinformatics methods were used to investigate the correlation of MMP7 with immune cells and immune infiltration score in TCGA and TIMER databases in patients with hepatocellular carcinoma,as well as the association between MMP7 and the prognosis of patients with hepatocellular carcinoma.The Spearman method was used for correlation analysis.Sanger Box online tool was used to assess the value of MMP7 in the overall survival curve and disease-specific survival of hepatocellular carcinoma.The Kaplan-Meier method was used to plot survival curves,and the Log-rank test was used for comparison of prognosis between different samples.Results After MHCC97H cells were transfected with MMP7_siRNA or pMMP7,there was a significant reduction or increase in the expression of the target gene MMP7;after downregulation of MMP7,there were significant reductions in the number and length of the pseudopodia,while after MMP7 overexpression,there were significant increases in the number and length of filopodia with radial arrangement.The Transwell chamber assay showed that MMP7_siRNA2 significantly reduced the migration ability of cells(P<0.05),and there was a significant increase in migration ability after pMMP7 transfection.The expression of MMP7 was significantly correlated with B lymphocytes(r=0.37,P<0.05),CD4+T lymphocytes(r=0.40,P<0.05),neutrophils(r=0.49,P<0.05),macrophages(r=0.49,P<0.05),and dendritic cells(r=0.47,P<0.05).In the TCGA database,the patients with hepatocellular carcinoma were divided into MMP7 high expression group with 267 patients and MMP7 low expression group with 146 patients based on overall survival,and the results showed that the MMP7 high expression group had a significantly shorter overall survival time than the MMP7 low expression group(P<0.05);based on the disease-specific survival time,the patients were divided into MMP7 high expression group with 257 patients and MMP7 low expression group with 145 patients,and the analysis showed that the MMP7 high expression group also had a significantly shorter disease-specific survival time than the MMP7 low expression group(P<0.05).Conclusion MMP7 promotes the migration of hepatocellular carcinoma cells and plays a major role in immune cell infiltration,and the expression of MMP7 is also significantly associated with the prognosis of hepatocellular carcinoma.

Objective:Interruption of aortic arch(IAA)is a rare congenital heart disease.This study aims to investigate echocardiographic features and pathological ultrastructural characteristics of fetal IAA and to further analyze its pathological evolution. Methods:A retrospective analysis was conducted on prenatal echocardiographic,post-surgical,or autopsy findings of fetuses prenatally diagnosed with IAA.Prenatal echocardiographic tracking was used to observe the internal diameters and Z-scores of different segments of the aortic arch and the changes in the narrowed section.These observations were combined with autopsy and pathological findings to explore the potential intrauterine evolution of IAA and its cytological basis. Results:The study included 34 fetuses with IAA,with 3,3,and 28 fetuses prenatally diagnosed with aortic arch dysplasia(AAD),coarctation of aorta(CoA),and IAA,respectively.The 3 AAD and 3 CoA fetuses chose termination of pregnancy 1 to 2 weeks after prenatal ultrasound diagnosis,and autopsy confirmed IAA.Among the 28 fetuses prenatally diagnosed with IAA,6 cases of CoA progressively worsened,eventually evolving into type A IAA as observed through echocardiographic follow-up.The remaining 22 cases were diagnosed as IAA on the first prenatal ultrasound.Postnatal surgery corrected 3 cases,while 27 cases opted for pregnancy termination,and 4 cases resulted in intrauterine death.Echocardiographic features of the fetal IAA included a significantly smaller left ventricle compared with the right or negligible difference on the four-chamber view,a significantly smaller aorta than the pulmonary artery on the three-vessel view,and a lack of connection between the aorta and the descending aorta on the three-vessel-trachea and aortic arch views.The aortic arch appears less curved and more rigid,losing the normal"V"shape between the aorta,ductus arteriosus,and descending aorta.Color Doppler ultrasound showed no continuous blood flow signal at the interruption site,with reversed blood flow visible in the ductus arteriosus.Transmission electron microscopy of 7 IAA fetuses revealed numerous disorganized smooth muscle cells between the elastic membranes near the aortic arch interruption site,significantly increased in number compared with the proximal ascending aorta.The elastic membranes were thicker and more twisted near the interruption site.The interruption area lacked normal endothelial cells and lumen,with only remnants of necrotic endothelial cells,disorganized short and thick elastic membranes,and randomly arranged smooth muscle cells. Conclusion:Prenatal echocardiography is the primary diagnostic tool for fetal IAA.Post-surgical follow-up and autopsy help identify complications and disease characteristics,enhancing diagnostic accuracy.Some fetal IAA may evolve from AAD or CoA,with potential pathogenesis related to ischemia,hypoxia,and migration of ductal constrictive components.

OBJECTIVES: Hypertrophic cardiomyopathy (HCM) frequently leads to myocardial ischemia and cardiac dysfunction. Even genotype-positive/phenotype-negative (G⁺/P^-) individuals, carriers of pathogenic sarcomere gene mutations without left ventricular hypertrophy, remain at risk of progression to clinical HCM. This study aims to evaluate myocardial perfusion and contractile function in familial HCM patients and their first-degree relatives using myocardial contrast echocardiography (MCE) and velocity vector imaging (VVI), in order to identify early myocardial dysfunction and at-risk individuals within families. METHODS: Thirty-five genetically confirmed HCM patients with left ventricular hypertrophy were assigned to a G⁺/P⁺ group. A total of 30 first-degree relatives carrying sarcomere mutations but without echocardiographic evidence of left ventricular hypertrophy were assigned to a G⁺/P^- group. A total of 38 age- and sex-matched gene-negative healthy family members served as controls. All participants underwent MCE and VVI assessments. Myocardial perfusion parameters, including peak intensity (PI), time to peak concentration (TP), and the ratio of declining intensity and declining time (dI/dT), as well as strain parameters including global longitudinal strain (GLS), global radial strain (GRS), and global circumferential strain (GCS) were recorded and analyzed for differences and correlations. RESULTS: Compared to both the G⁺/P^- and normal control groups, the G⁺/P⁺ group had significantly lower PI, dI/dT, GLS, and GRS, along with significantly increased TP (all P<0.05). GLS and GRS were positively correlated with PI (r=0.629 and r=0.613, respectively; both P<0.01) and negatively correlated with TP (r=-0.597 and r=-0.571, respectively; both P<0.01). Compared to the normal control group, the G⁺/P^- group showed a significant reduction in GLS (P<0.05), but no significant differences in GRS, GCS, PI, TP, or dI/dT (all P>0.05). CONCLUSIONS Myocardial contractile dysfunction in HCM patients is closely related to impaired perfusion. Even in the absence of wall hypertrophy, sarcomere mutation carriers show early signs of subclinical left ventricular dysfunction. MCE and VVI can quantitatively assess myocardial perfusion and function, offering valuable tools for early detection and risk stratification in HCM patients and their relatives.
Humans ; Male ; Female ; Myocardial Contraction/physiology* ; Echocardiography/methods* ; Adult ; Cardiomyopathy, Hypertrophic/genetics* ; Middle Aged ; Cardiomyopathy, Hypertrophic, Familial/genetics* ; Family ; Mutation

Abstract OBJECTIVE To conduct a quality markers(Q-Markers) study on the treatment of cough with Feire Zhike granules based on the “five principles” of Q-Markers, combined with mass spectrometry, network pharmacology and cobweb model. METHODS Identification of the main chemical components in Feire Zhike granules by liquid mass spectrometry. The TCMSP database was searched to collect the active ingredients and corresponding targets of 11 herbs in the prescription of Feire Zhike granules. The GeneCards database was also searched to collect genes encoding cough-related proteins, and a herb-component-target network map was constructed. Assigning effectiveness to active ingredients based on the number of target sites. Check the pharmacopoeia and literature to obtain the measurable components of each herb. Determine the monarchical, ministerial and adjuvant attribution of the original herbs in the compound formula based on the principle of compatibility. The literature and TCMSP database were searched to screen the original herb for specificity components. RESULTS A total of 43 chemical components in the Feire Zhike granules were identified to be “delivered” to the formulation based on UHPLC-Q-TOF-MS/MS. The 124 active compounds were obtained from the TCMSP database and acted on 120 targets, 93 of which were associated with coughing. There were 6 components in the pharmacopoeia that specify quantitative methods. A total of 26 endemic components were found in 11 herbs in the compound formula. In addition, the above components were ranked according to the compatibility rules of monarch and minister and the scoring rules of cobweb model. The top 10 components were wogonin, baicalein, licochalcone A, nobiletin, acacetin, hesperidin, liquiritin, tuberstemonine, β-sitosterol and galangin, respectively. CONCLUSION The above 10 components can be identified as Q-Markers of Feire Zhike granules.

Objective:To explore the method of ultrasonography for detecting the fetal umbilical vein diameter, blood flow volume and normalized volume blood flow and establish normal reference ranges with umbilical vein diameter, blood flow volume and normalized blood flow and Z-scores for umbilical vein diameter and blood volume flow.Methods:This was a prospective study on 907 normal fetuses in the Second Xiangya Hospital, Central South University and Women and Children Healthcare Hospital of Zhuzhou from March 2019 to December 2020. The umbilical vein diameter (Duv), umbilical vein blood flow volume (Quv) and normalized volume blood flow (nQ = Quv/estimated fetal weight) of the free loop of umbilical vein (FUV) and fetal intra-abdominal umbilical vein (IUV) were collected. And the mean values and 90% confidence intervals of Duv, Quv and nQ in two segments of umbilical veins at different gestational ages were calculated. Regression analysis of Duv, Quv and nQ were performed with gestational age (GA), and the parameters of umbilical vein in different segments were compared. Finally, with gestational age (GA) as the independent variable, Z-scores of the Duv and Quv were built.Results:The mean values and 90% confidence intervals of Duv, Quv, and nQ in 858 (94.6%) normal fetal umbilical veins were successfully obtained. The Duv, Quv of the FUV and IUV increased as pregnancy progressed. The Quadratic curve of Duv and Linear curve of Quv were of the highest fitnesses, respectively( r=0.951, 0.941, 0.986, 0.982; all P<0.001). While nQ increased with GA followed by a decreased trend, and the Quadratic curve was the highest fitting curve of nQ( r=0.610, 0.611; all P<0.001). Duv-FUV was greater than Duv-IUV( P<0.001), nQ-FUV was bigger than Quv-IUV( P=0.001), and he difference was not statistically significant between Quv-FUV and Quv-IUV( P=0.133). Z-scores models of Duv and Quv were successfully established, and all Z-scores were Gaussian distribution. Conclusions:The normal ranges and Z-scores of umbilical vein parameters are useful to improve the evaluation of placental circulation and provide a strong basis for the monitoring of fetus-related diseases and the evaluation of pregnancy prognosis. The choice of FUV or IUV umbilical vein to evaluate placental circulation may depend on the actual situation in clinical application.

Objective:To investigate the ultrasonographic features and prognosis of fetal vascular anomalies.Methods:Thirty-one fetuses with vascular anomalies diagnosed from June 2013 to August 2018 in Changsha Hospital for Maternal and Child Health Care were retrospectively analyzed. The location, size, shape, internal echo and blood flow distribution of the lesions were observed by ultrasound carefully, and the prognosis was followed up and analyzed.Results:Among the 31 cases of fetal vascular anomalies, 10 cases were comfirmed by autopsy after induced labor, and 21 cases were confirmed by postpartum local observation or surgery and pathology. Among them, there were 4 cases of Klippel-Trenaunay syndrome (including 1 case of Parkes-Weber syndrome), 3 cases of hemangioma, 1 case of primary congenital lymphedema and 23 cases of lymphangioma. Thirty-one cases showed lesions coincident with ultrasound localization and diagnosis, including 9 cases of head and neck lesions, 15 cases of trunk lesions, 1 case of upper limb lesion and 6 cases of lower limb lesions. The blood flow spectra of arteriovenous fistulas were found in 3 cases of fetal lesions and no obvious blood flow signals were found in 28 cases of fetal lesions.Conclusions:Prenatal ultrasound examination and follow-up play an important role in the diagnosis and prognostic prediction of fetal vascular diseases. The prognosis of fetal vascular diseases is closely related to the location, size, effect on the surrounding tissue and shunt volume of the lesion.

Objective:To develop Z-scores for the aortic arch in normal fetuses as a reference for fetuses with suspected coarctation of aorta(CoA).Methods:The aortic arch inner diameters of 610 normal fetuses and 59 CoA fetuses from May 2010 to March 2015 in the Second Xiangya Hospital of Central South University were measured at the long axis of the aortic arch view. Gestational age(GA), femur length(FL) as the independent variable, the aortic arch inner diameters as the dependent variable, Z-scores were created relating the aortic arch inner diameters to the GA and FL. Z-score=[ln(measured diameter)-ln(predicted diameter)]/root MSE. Z-scores of the CoA fetuses were calculated with the above regression, and compared with the Z-scores of the control group.Results:A simple linear regression model was the best description of the data in each case and correlations between FL and the aortic arch inner diameters were excellent ( P<0.001). There was no significant difference in Z-scores calculated with FL or GA as independent variables ( P>0.05). Z-scores of the control group was between -2 and + 2, Z-scores of the CoA group was significantly lower and below -2( P<0.001). Conclusions:Z-scores of fetal aortic arch are sensitive indicators of fetal coarctation, and are of clinical importance for the diagnosis and follow-up study of CoA.