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Objective@#To explore the feasibility of Sonography based Volume Computer Aided Display Heart (SonoVCADheart) in the display of the fetal ventricular outflow views, and compare diameters of fetal aorta (AO) and pulmonary artery (PA) measured by two-dimensional echocardiography (2DE) and SonoVCADheart.@*Methods@#Eighty singleton fetuses in the second and third trimesters of pregnancy in January 2019 in Sir Run Run Shaw Hospital, Zhejiang University College of Medicine were enrolled. Conventional 2DE examinations were performed. The volume datasets were analyzed offline using the new automatic image processing software SonoVCADheart. The diameters of AO and PA were measured by 2DE and SonoVCADheart, respectively. Pearson correlation analysis was used to evaluate the correlation between the two methods. The consistency of the two methods was verified by Bland-Altman analysis, and he reliability of SonoVCADheart was assessed using the intraclass correlation coefficient (ICC).@*Results@#Fetal ventricular outflow views were successfully obtained using SonoVCADheart in 73(91.2%) of 80 fetuses. There were good correlations between the two methods for measuring the diameters of AO and PA (r=0.953, 0.971; all P<0.001). The 95% agreement limits of AO and PA were (-0.669, 0.568)mm and (-0.632, 0.580)mm, respectively. ICC demonstrated that SonoVCADheart achieved great repeatability both between and within observers.@*Conclusions@#SonoVCADheart may have potentials for the quantitative evaluation of fetal ventricular outflow tracts with its good repeatability and reliability.
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Objective:To evaluate the clinical value of sonography based volume computer aided display heart (SonoVCADheart) in the display of key diagnostic elements in basic fetal echocardiographic views.Methods:4D volume data based on fetal four-chamber view of 80 singleton fetuses (including 57 normal fetuses and 23 fetuses with heart abnormalities) were collected by using a volumetric probe from the Sir Run Run Shaw Hospital, Zhejiang University College of Medicine from January 8-22, 2019. Four to five volume datasets based on four-chamber view of the heart were rapidly acquired from each fetus. Three doctors (Doctor A: Engaged in fetal echocardiography diagnosis for more than 15 years, Doctor B and C: 6 months of regular fetal echocardiography training but lack of experience) with different fetal echocardiographic experiences performed off-line processing using SonoVCADheart combined tomographic ultrasound imaging (TUI) at different times to obtain eight standard echocardiographic diagnostic views, and to score the elementary contents of each echocardiographic view. The scores of the same doctor at different times, the scores of less experienced doctors and experienced doctor, and the scores between normal and abnormal fetuses, and the time required for analysis and diagnosis among all doctors were analyzed and compared, respectively. The diagnostic coincidence rates of SonoVCADheart for fetuses with cardiac malformations were also assessed.Results:A total of 279 volume datasets obtained from 57 normal fetuses, an average of 4.89/fetus, and 109 volume datasets obtained from 23 fetuses with cardiovascular abnormalities, an average of 4.74/fetus, and all volume datasets were used for SonoVCADheart analysis. The volume percentage of all the elements in the 8 diagnostic views with image quality≥2 points shown by SonoVCADheart in the normal fetuses was about 70.61%-74.91%, in the abnormal fetuses was about 53.21%-55.96%. There were no significant differences in the scores between the same doctor at different times, the scores between inexperienced doctors, and the scores among experienced and less experienced doctors(all P>0.05). There were significant differences in the scores between normal and abnormal fetuses except for all of the superior and inferior vena cava view and the aorticarch view of doctors A and C(all P<0.05). The time required for experienced doctor A and inexperienced doctors B and C to obtain 8 diagnostic views and to complete the diagnosis was statistically significant ( P<0.05). There was no significant difference in the time required for the inexperienced doctors B and C to obtain 8 diagnostic sections and to complete the diagnosis ( P>0.05). There was statistically significant difference in the diagnosis time required for doctor A using SonoVCADheart and two-dimensional echocardiography in fetuses with cardiovascular malformations ( P<0.05). However, there was no statistically significant difference in the time required in the normal fetus between SonoVCADheart and two-dimensional echocardiography ( P>0.05). The diagnostic coincidence rate of SonoVCADheart for fetuses with cardiac malformations is about 89.91%-90.83%. Conclusions:SonoVCADheart is a repeatable and stable novel fetal heart processing tool enabling displaying eight standard diagnostic sections of the fetal heart, and has potential clinical application value in the standardization of image acquisition and sequence display.
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Objective:To explore the feasibility of Sonography based Volume Computer Aided Display Heart (SonoVCADheart) in the display of the fetal ventricular outflow views, and compare diameters of fetal aorta (AO) and pulmonary artery (PA) measured by two-dimensional echocardiography (2DE) and SonoVCADheart.Methods:Eighty singleton fetuses in the second and third trimesters of pregnancy in January 2019 in Sir Run Run Shaw Hospital, Zhejiang University College of Medicine were enrolled. Conventional 2DE examinations were performed. The volume datasets were analyzed offline using the new automatic image processing software SonoVCADheart. The diameters of AO and PA were measured by 2DE and SonoVCADheart, respectively. Pearson correlation analysis was used to evaluate the correlation between the two methods. The consistency of the two methods was verified by Bland-Altman analysis, and he reliability of SonoVCADheart was assessed using the intraclass correlation coefficient (ICC).Results:Fetal ventricular outflow views were successfully obtained using SonoVCADheart in 73(91.2%) of 80 fetuses. There were good correlations between the two methods for measuring the diameters of AO and PA ( r=0.953, 0.971; all P<0.001). The 95% agreement limits of AO and PA were (-0.669, 0.568)mm and (-0.632, 0.580)mm, respectively. ICC demonstrated that SonoVCADheart achieved great repeatability both between and within observers. Conclusions:SonoVCADheart may have potentials for the quantitative evaluation of fetal ventricular outflow tracts with its good repeatability and reliability.
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Objective To analyze the mutations of F12 gene in one pedigree with congenital factor FⅫ(FⅫ)deficiency, and investigate the molecular mechanisms of FⅫ deficiency.Methods Pedigree investigation.In February 2015,a patient with hereditary FⅫdeficiency was admitted to the Third Clinical College of Wenzhou Medical University.Activated partial thromboplastin time(APTT), prothrombin time (PT),FⅫactivity(FⅫ:C),FⅫ antigen(FⅫ:Ag)and other coagulant parameters were tested in the proband and his family members.5′and 3′UTR, all exons and their exon-intron boundaries of F12 gene were analyzed by direct sequencing.The detected mutations were confirmed by reverse sequencing.The conserved amino acids were analyzed by ClustalX-2.1-win software, and four bioinformatics softwares (PolyPhen-2,PROVEAN,SIFT and MutationTaster)were also used to analyze the effect of mutations on protein function.Results The proband and her younger brother showed a markedly prolonged APTT which were 116.4 s and 101.3 s, while her father had slightly prolonged APTT, and other family members were normal.The FⅫ:C and FⅫ:Ag of family members were also decreased(the proband,2.0% and 1.0%;her younger brother,2.0% and 1.0%; her father,18.0% and 13.0%).The phenotype of all members was consistent with cross-reactive material(CRM)negative.Nucleotide sequencing analysis showed that the proband and her younger brother had missense mutations in the F 12 gene, including one homozygous mutation c.1681G>A(p.Gly542Ser)and a commonly reported single nucleotide polymorphism site within the promoter region of the F12 gene(46T/T).Sequencing results from the proband's parents and son demonstrated them as carriers of a heterozygous missense mutation.The proband's husband was normal and with 46C/C in the promoter region.The ClustalX-2.1-win results indicated that the Gly542 was highly conserved among the homologousspecies.The predicting outcomes of the four bioinformatics softwares were the same,the PolyPhen-2(score 1.000)and PROVEAN(score -4.975)both declared p.Gly542Ser was a harmful mutation.The SIFT(score 0.00)and the MutationTaster(score 0.999)manifested the mutation could affect the protein funtion.Conclusions c.1681G>A(p.Gly542Ser)in exon 14 and 46T/T were related with the significant decrease of the FⅫlevel of this pedigree of hereditary FⅫ deficiency.
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To analyze the mutations of F12 genein one pedigree with congenital factor FXII (FXII) deficiency , and investigatethe molecular mechanisms of FXII deficiency . Methods Activated partial thromboplastin time(APTT),Prothrombin time(PT), FXII activity(FXII:C), FXII antigen(FXII:Ag) and other coagulant parameters were tested in the proband and his family members .5'and 3'UTR,all exons and their exon-intron boundaries of F12 gene were analyzed by direct sequencing .The detected mutations were confirmed by reverse sequencing .100 healthy persons were as normal controls .Results The proband showed a markedly prolonged APTT (106.4s), the FXII:C and FXII:Ag were 2.0% and 1.0%, respectively .Hissecond daughter and granddaughter had slightly prolonged APTT , and other family members are normal.The FXII:C and FXII:Ag of family members were also decreased ( his son, 23.0% and 21. 0%;his elder daughter , 23.0%and 23.0%;his second daughter ,24.0%and 23.0%;hisgranddaughter , 23.0%and 23.0%).The phenotype of all members is consistent with cross -reactive material negative . Nucleotide sequencing analysis showed that the proband had missense mutations in the F 12 gene, including one homozygous mutationc.1556T >G ( p.Leu519Arg) and a commonly reported single nucleotide polymorphism site within the promoter region of the F 12 gene (46T/T) .Sequencing results from the proband 'children demonstrate them as carriers of a heterozygous missense mutation .The proband 's wife is normal and with 46C/C in the promoter region .Conclusion The c.1556T>G in exon 13 is a novel mutation .This mutation affects FXIIcatalytic function , associated with a reduced level of FXII .