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OBJECTIVE@#To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes.@*METHODS@#Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed.@*RESULTS@#The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously.@*CONCLUSION@#Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
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Humans , Loeys-Dietz Syndrome/genetics , Receptor, Transforming Growth Factor-beta Type I/genetics , Receptor, Transforming Growth Factor-beta Type II/genetics , Transforming Growth Factor beta3 , FaceABSTRACT
We report a fetus presented with complex cardiac malformations, pulmonary atresia with ventricular septal defect, detected by fetal echocardiography at 17 +4 weeks. The pregnancy was terminated after routine counseling and genetic tests were performed on umbilical cord of the induced fetus and peripheral blood samples of the parents. Whole-exome sequencing identified a novel maternally-inherited and likely pathogenic variation hemizygous nonsense variant, c.1651C>T (p.Gln551*) in the OTUD5 gene (NM_017602.3), which was confirmed by subsequent Sanger sequencing. The fetus was finally diagnosed as X-linked multiple congenital anomalies-neurodevelopmental syndrome.
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Objective:To investigate the genetic etiology of fetal conotruncal heart defects (CTDs) and to evaluate the performance of copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in identifying the genetic etiology.Methods:This retrospective study involved 196 fetuses diagnosed with CTDs by fetal echocardiography in Beijing Anzhen Hospital, Capital Medical University from June 2017 to December 2021. CNV-seq was performed to screen for chromosomal abnormalities [aneuploidy and copy number variations (CNVs)] in the fetuses and their parents, and then WES was performed if CNV-seq was negative. The diagnostic yields of genetic abnormalities [aneuploidy+CNVs+single nucleotide variations (SNVs)] for different types of CTDs were compared using Chi-square test. Results:CNV-seq revealed 54 cases (27.6%, 54/196) with chromosomal abnormalities, including 14 (7.1%, 14/196) aneuploidies, 39 (19.9%, 39/196) CNVs and one aneuploidy complicated by CNVs. Together with another 13 fetuses with pathogenic or likely pathogenic SNVs detected by WES among the rest 142 cases whose CNV-seq results were negative, the total detection rate of genetic abnormalities was 34.2% (67/196). WES increased the diagnostic yield for CTDs by 9.2% (13/142). There was significant difference in the diagnostic yields for different types of CTDs ( χ2=20.31, P=0.002). The diagnostic yield was relatively high for interrupted aortic arch of type B, absent of the pulmonary valve -type of tetralogy of Fallot (9/10 and 8/12), but low for transposition of the great arteries (12.5%, 5/40). Conclusions:CNVs are the common genetic abnormalities in fetal CTDs, and SNVs are also detected in some cases. It is recommended that all fetuses with CTDs should undergo genetic testing. CNV-seq should be used in combination with WES if possible to improve the identification of genetic etiology and provide reference for genetic counseling.
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@#Objective To analyze the echocardiographic characteristics of above grade 3+ mitral regurgitation (MR) patients by 3D transesophageal echocardiography (3D-TEE) in transcatheter edge-to-edge repair (TEER) and compare the intervention rate of TEER treatment in patients with different risk stratification. Methods We retrospectively analyzed the clinical data of 91 patients with above grade 3+ MR in Anzhen Hospital between June 2021 and April 2022. There were 45 males and 46 females aged 66.5±15.9 years. According to pathogenesis, the patients were divided into different anatomical groups and risk stratification groups. There were 34 patients in a simple degenerative group (simple DMR group), 28 patietns in a complex disease group (Complex group), 14 patients in a simple ventricular functional reflux group (simple VFMR group), 9 patients in a simple atrial functional reflux group (simple AFMR group), and 6 patients in a mixed functional reflux group (mixed FMR group). All patients were examined with a unified standard of transthoracic echocardiography (TTE) and 3D-TEE to compare the characteristic three-dimensional structural changes of the mitral valve in each group. According to the three partition strategy of preoperative anatomical evaluation of TEER, the risk stratification was conducted for the enrolled patients, which was divided into three regions from light to heavy: green area, yellow area, and red area. TEER treatment intervention rate of patients with different risk stratification was calculated. Results Ant leaf angle and post leaf angle were negative in the simple DMR and Complex groups, and non-planar angle, prolapse height and prolapse volume were higher than those of the other groups (P=0.000). Ant leaf angle and post leaf angle were positive in the VFMR group and the mixed FMR group. Anterior and posterior (AP) diameter of valve ring (P=0.036), tenting height and tenting volume were higher than those of other groups (P=0.000). AP diameter, tenting height and tenting volume were changed mildly in patients with simple AFMR. MR patients in red and yellow zone achieved a 28.1% TEER intervention rate. Conclusion Standardized TTE and TEE examinations are crucial for the qualitative and quantitative diagnosis of MR in the echo core-lab. 3D-TEE mitral valve parameter can help determine the exact pathogenesis of MR and to improve the interventional rate of challenging MR patients.
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OBJECTIVE@#To explore the genetic basis for a fetus with Cardiac-urogenital syndrome (CUGS).@*METHODS@#A fetus with congenital heart disease identified at the Maternal Fetal Medical Center for Fetal Heart Disease, Beijing Anzhen Hospital Affiliated to Capital Medical University in January 2019 was selected as the study subject. Clinical data of the fetus was collected. Copy number variation sequencing (CNV-seq) and trio-whole exome sequencing (trio-WES) were carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Detailed fetal echocardiographic examination had revealed hypoplastic aortic arch. The results of trio-WES revealed that the fetus has harbored a de novo splice variant of the MYRF gene (c.1792-2A>C), for which both parents were of the wild-type. Sanger sequencing confirmed the variant to be de novo. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic. CNV-seq has identified no chromosomal anomalies. And the fetus was diagnosed with Cardiac-urogenital syndrome.@*CONCLUSION@#The de novo splice variant of the MYRF gene probably underlay the abnormal phenotype in the fetus. Above finding has enriched the spectrum of MYRF gene variants.
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Female , Humans , DNA Copy Number Variations , Fetal Diseases , Fetus/abnormalities , Heart Defects, Congenital/genetics , Mutation , Transcription Factors/geneticsABSTRACT
Objective:To summarize the etiological mechanism, echocardiographic and clinical features of fetal cardiomyopathies (FCMs).Methods:According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December, 70 cases with FCMs were retrospectively reviewed, and the clinical, ultrasonic, pathological and clinical outcome data were collected. Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results:Primary FCMs were diagnosed in 55 cases (78.6%, 55/70), including 39 fetuses with non-compaction of the ventricular myocardium (NVM), 10 with dilated cardiomyopathy (DCM), 5 with hypertrophic cardiomyopathy (HCM), and 1 with restricted cardiomyopathy (RCM). Secondary FCMs were diagnosed in 15 cases (21.4%, 15/70), including 7 fetuses with maternal anti-Ro/La antibodies (presenting with DCM), 4 with twin-twin transfusion syndrome (2 with DCM and 2 with HCM), 2 with fetal anemia (presenting with DCM), 1 with maternal diabetes (presenting with HCM) and 1 with chorioangioma of the placenta (presenting with DCM). In all cases, 9 cases were born, 3 cases died in perinatal period, and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women. Thirty cases with primary FCMs were performed with genetic tests, and 13 of them were identified with positive genetic changes related to FCMs, including 12 cases with NVM and 1 with HCM.Conclusions:Primary FCMs are more common than secondary FCMs in fetal period. The genetic disorders have a high proportion in fetal NVM. Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.
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Objective:To investigate the differences of umbilical vein diameter(D), time average peak velocity(TAmax) and blood flow between congenital heart disease and normal fetus.Methods:The umbilical vein diameter and time average peak velocity of 69 fetuses with congenital heart disease (disease group) from 22 to 27 weeks were prospectively studied in Maternal-Fetal Medical Center in Fetal Heart Disease of Beijing Anzhen Hospital from May 2021 to September 2021. Q 1 (umbilical venous blood flow) was calculated according to the formular [Q=0.5TAmax·π·(D/2) 2)], and Q 2 (Q 2=Q 1/weight) was calculated according to the fetal weight. At the same time, 111 normal fetuses with matched gestational age were selected as control group. The differences of fetal umbilical vein D, TAmax, Q 1 and Q 2 between the two groups were analyzed. Results:The inner diameter of umbilical vein D, TAmax, Q 1 and Q 2 in the congenital heart disease group were lower than those in the control group(all P<0.05). In the control group, the inner diameter of umbilical vein D, TAmax and Q 1 increased with the increase of gestational age and showed a positive linear correlation( r=0.608, 0.320, 0.626; all P≤0.001), while there was no obvious linear correlation between Q 2 and gestational age( r=0.189, P=0.047). Conclusions:The decrease of umbilical vein D, TAmax, Q 1 and Q 2 in the fetus with congenital heart disease indicates the decrease of effective blood flow in placenta-fetus circulation, which indirectly reflects the decrease of placental function in the fetus with congenital heart disease.
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Objective:To investigate the preoperative ascending aorta diameter in patients with acute type A aortic dissection in the Chinese population, compares and analyze the differences in preoperative blood biomarkers, and evaluate the impact of the preoperative ascending aorta diameter in this part of patients on the short-term prognosis of patients.Methods:A collection of 641 patients with acute type A aortic dissection who were enrolled in the " Acute Aortic Syndrome High-Risk Early Warning and Intervention Study" project from January 2018 to January 2020 were collected. Divide the patients into two groups (group Ⅰ<55 mm, group Ⅱ≥55 mm) according to the preventive intervention value of ascending aorta diameter recommended by the guideline for studying preoperative ascending aorta diameter difference in blood biomarkers and the influence of ascending aorta diameter on the short-term prognosis of patients. All patients had CT scans to assess the diameter of the ascending aorta before operation.Results:In this study, all patients with acute type A aortic dissection had a mean preoperative ascending aorta diameter of (46.9±9.7)mm. The preoperative ascending aorta diameter of all patients was less than 55 mm, accounted for 84.1%. Male patients were more likely to have aortic dissection than females; most patients' age was less than 60 years old. The preoperative blood inflammatory index counts were higher in the ascending aorta diameter ≥55 mm group. However, the long-term prognosis of patients with different ascending aorta diameters before surgery was not apparent in this study. The preoperative survival rate and short-term survival rate of patients with ascending aorta diameter <55 mm were higher than those of other groups, but the difference was not statistically significant.Conclusion:In patients with acute type A aortic dissection, the diameter of the ascending aorta is usually less than 55 mm. Moreover, the blood inflammatory index counts are high in the preoperative ascending aorta diameter ≥55 mm group. Meanwhile, patients with smaller ascending aorta diameter have better survival rate and short-term prognosis.
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Early and prompt comprehensive prevention and treatment of fetal congenital heart disease (CHD) has become an international consensus and trend, with the aim of improving its prenatal detection rate, diagnostic accuracy, and the overall pregnancy outcome. Prenatal and postnatal integrated management of fetal CHD has been shown to be clinically effective in the prevention and treatment of CHD, which consists of early and accurate diagnosis, identification of structure-related multi-dimensional etiology, standardized consultation, primary prevention for the next fetus, and postnatal management. This review summarizes the current status, challenge, and future trend of implementing prenatal and postnatal integrated management of fetal CHD in China.
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Objective:To evaluate the heart hemodynamics in fetuses with premature ductus arteriosus constriction or closure using fetal heart quantification (FHQ).Methods:The clinical data of 50 singleton fetuses with ductus arteriosus constriction ( n=35) or ductus arteriosus closure ( n=15) who underwent echocardiography in Department of Ultrasound, Beijing Anzhen Hospital were retrospectively analyzed, from May 2013 to January 2020. Fifty healthy singleton fetuses were randomly selected as the control group. The ductus arteriosus diameter (DA), pulsatility index (PI), diameter of the left atrium(LA) and right atrium(RA), diameter of the left ventricle (LV) and right ventricle (RV), tricuspid regurgitation/right atrium area ratio (TR/RA Ratio), pressure gradient of tricuspid regurgitation (PG of TR), and heart/chest ratio were measured using conventional fetal echocardiography; the correlations among the parameters were analyzed. Speckle-tracking analysis was used to analysis and compute the LV and RV global spherical index (GSI), fractional area change (FAC) and global strain (GS), the LV ejection fraction(EF) and stroke volume (SV). These variables and their correlations were compared and analyzed. Results:Compared with the control group, the GS and FAC of the LV and RV in the ductus arteriosus constriction or closure groups were lower ( P<0.05) while the LV-SV was higher ( P<0.05). The FAC, GS, and EF values of the LV were higher in the premature ductus arteriosus closure group than in the ductus arteriosus constriction group ( P<0.05), while the RV-FAC was lower ( P<0.05), the RV-GS and LV-SV showed no significant changes ( P>0.05). Correlation analyse showed that the PI was positively correlated with DA( r=0.364, P<0.05); the PG of TR was negatively correlated with DA( r=-0.414, P<0.05); the TR/RA Ratio was negatively linearly correlated with PI( r=-0.388, P<0.05), and positively correlated with RV/LV Ratio ( r=0.369, P<0.05); the other parameters were not significantly correlated with the DA or PI ( P>0.05). Conclusions:Fetal heart hemodynamics in the premature ductus arteriosus constriction or closure groups change significantly, FHQ can provide valuable information for the evaluation of the fetal heart with ductus arteriosus constriction or closure.
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Objective:To explore the changes of biparietal diameter, head circumference and cerebrovascular hemodynamics in fetuses with hypoplastic left heart syndrome (HLHS) during middle pregnancy.Methods:The biparietal diameter, head circumference, middle cerebral artery pulsatility index (MCA-PI), umbilical artery pulsatility index (UA-PI) and MCA-PI/UA-PI (CPR) of 41 fetuses with HLHS(HLHS group) were retrospectively analyzed from January 2015 to December 2019 in Beijing Anzhen Hospital, and were compared with those of 82 normal fetuses matched for gestational age at the same period (control group).Results:The Z-scores of head circumference, MCA-PI and CPR in with HLHS group were lower than in control group(all P<0.05); Head circumference in HLHS group were weakly and positively correlated with the MCA-PI and CPR ( r=0.385, 0.416; all P<0.05). Conclusions:There are some changes in the head circumference and cerebral hemodynamics in fetuses with HLHS during mid-gestational age, and the head circumference is weakly and positively correlated with MCA-PI and CPR, which has clinical significance.
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Objective:To investigate the value of artificial intelligence in screening normal or abnormal four-chamber view of the fetal heart.Methods:Selecting 3 996 pictures of normal and abnormal end systolic four chamber views and 450 video clips from the database of Beijing Key Laboratory of Fetal Heart Disease Maternal and Fetal Medicine Research in Beijing Anzhen Hospital as training set, test set and verification set to train, test and verify DGACNN model. ①Comparing DGACNN, DGACNN-ALOCC and other classification models(Densenet, Resnet50, InceptionV3, InceptionResnetV2) to detect the model with the most advanced level by recognizing 200 normal pictures and 200 abnormal pictures. ②Fetal echocardiographers were divided into three groups according to their experiences: primary, intermediate and advanced, 3 doctors in each group, and comparing the average score between each group or three groups and DGACNN by recognizing 100 normal pictures and 100 abnormal pictures.Results:①When the the false positive rate(FPR) was in the range of 20%, the recognition accuracy of DGACNN was the highest with 0.850, the recognition accuracy of other models were DGACNN-ALOCC 0.835, Densenet 0.780, Resnet50 0.700, InceptionV3 0.670, InceptionResnetV2 0.650, respectively. ②When FPR was in the range of 20%, the area under ROC curve of DGACNN was the largest with 0.881, the area under ROC curve of other models were DGACNN-ALOCC 0.864, Densenet 0.850, Resnet50 0.822, Inceptionv3 0.779, InceptionResnetV2 0.703, respectively. ③When the FPR was in the range of 20%, the average recognition accuracy of the senior fetal echocardiographer group was the highest with 0.863, followed by DGACNN 0.840, which was higher than the average recognition accuracy of the primary and intermediate groups with 0.760, 0.807; the average recognition accuracy of DGACNN was higher than the total average recognition accuracy of the primary, intermediate and advanced groups with 0.810.Conclusions:Artificial intelligence is accessible in screening four chamber view of fetal echocardiography, with high recognition accuracy.
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Objective:To investigate the value of post left atrium space index (PLASI) in the diagnosis of fetal isolated total anomalous pulmonary venous connection (TAPVC).Methods:Twenty-six cases of fetal isolated TAPVC were retrospectively analyzed as the TAPVC group and 243 normal fetuses were selected as the control group from October 2012 to April 2019 in the Consultation Center of Maternal-Fetus Medicine in Fetal Heart Disease in Beijing An Zhen Hospital. The width of the PLAS and the diameter of the descending aorta were measured in the four chamber view, and then the PLAS index (PLASI) (the width of the PLAS/the diameter of the descending aorta) was calculated. The relationships between the width of PLAS, the diameter of descending aorta and the PLASI and gestational age were analyzed. The difference of the PLASI between isolated TAPVC group and control group was analyzed, and ROC curve was used to analyze the sensitivity and specificity in identifying the isolated TAPVC fetuses and normal fetuses.Results:In the 243 normal fetuses in control group, both the width of the PLAS and the diameter of the descending aorta increased with gestational age ( r s=0.362, 0.648, P<0.05). There was no statistically significant correlation between the PLASI and gestational age ( r s=-0.065, P>0.05). The PLAS and the PLASI in isolated TAPVC group were all significantly higher than those in control group ( t=26.31, 34.90, P<0.01). Based on the ROC curve analysis, when the cutoff value was set to 3.6 mm, the sensitivity and specificity of PLAS in identifying isolated TAPVC and normal fetuses were 97.5% and 100%, respectively. When the cutoff value was set to 1.1, the sensitivity and specificity of PLASI in identifying isolated TAPVC and normal fetuses were 100% and 100%, respectively. Conclusions:The PLASI is a sensitive parameter in identifying the isolated TAPVC, which is helpful for the rapid screening of the isolated TAPVC.
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Objective:To investigate the fetal echocardiographic features and clinical phenotype of 22q11.2 microdeletion syndrome (22q11.2DS) and provide information for the diagnosis of fetal 22q11.2DS.Methods:We retrospectively retrieved information of 822 fetuses, who were diagnosed with congenital heart disease by fetal echocardiography, with results of low-coverage whole genome sequencing from the Genetic Database of Beijing Key Laboratory of Fetal Heart Disease and Maternal Fetal Medicine Research from January 2013 to April 2019. Phenotype, fetal echocardiographic features and genetic origin results of 46 fetuses with 22q11.2DS (22q11.2DS group) were summarized. Another 68 fetuses who were negative for 22q11.2DS but had conotruncal defects(CTD) were selected as control. Differences in fetal cardiac axis were compared between the two groups. Independent samples t test and Chi-square test were used for statistical analysis. Results:22q11.2DS was detected in 46 fetuses giving a total detection rate of 5.60% (46/822). The detection rates of 22q11.2DS in fetuses with CTD and non-CTD were 14.8% (45/305) and 0.2% (1/517), respectively ( χ2=74.253, P<0.001). Fetal cardiac axis was left-deviated in those with 22q11.2DS compared with those of the control [(61.7±15.3)°vs (55.7±13.4)°, t=-3.843, P=0.001]. Conclusions:CTD are the common clinical phenotypes of fetal 22q11.2DS. Fetal 22q11.2DS should be considered and the corresponding prenatal genetic diagnosis is highly suggested when the fetus is diagnosed with CTD especially combined with an enlarged cardiac angle.
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Objective:To summarize the echocardiography and pathological features of fetal Kabuki syndrome.Methods:This study retrospectively analyzed the echocardiography and pathological features of seven fetuses with KMT2D pathogenic variants confirmed by copy number variation sequencing, and who were identified as complex congenital heart disease by fetal echocardiography, at Beijing Anzhen Hospital, Capital Medical University and other multi-center collaborative hospitals on fetal congenital heart diseases from January 2013 to May 2018. All the seven fetuses were artificially aborted. Descriptive statistics were used for data analysis. Results:(1) The seven pregnant women aged 29 (27-32) years and had an abortion at 23 (22-25) gestational weeks. There were three male and four female fetuses. (2) Pathogenic mutations in KMT2D gene were detected in all seven cases, including one nonsense mutation and six frameshift mutations. (3) All fetuses had left heart obstruction with or without aortic arch dysplasia/interruption of the aortic arch. There were three with hypoplastic left heart syndrome, two with a single ventricle, one with aortic atresia, and one with severe mitral valve dysplasia. Other cardiovascular abnormalities included aortic arch branch abnormalities, double-outlet of the right ventricle, ventricular septal defect, tricuspid atresia, pulmonary valve stenosis (nearly atresia) complicated by pulmonary dysplasia, persistent left superior vena cava, and patent or closed foramen ovale. Secondary changes included enlargement of the right atrium and right ventricle, and dilatation of the pulmonary artery or ductus arteriosus. (4) Four of the seven fetuses showed multiple extracardiac system abnormalities, including facial deformities (two cases), pulmonary dysplasia (two cases), digestive abnormalities(two cases), and urogenital system abnormalities (two cases). Conclusions:The main features of echocardiography for fetal Kabuki syndrome are left heart obstruction, often complicated by other congenital cardiovascular abnormalities.
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Objective To explore the correlation between the cardiovascular ultrasound results and pathological findings of heterotaxia syndrome ,analyze the cause of the difference ,and improve the prenatal cardiovascular diagnostic accuracy of heterotaxia syndrome by ultrasound . Methods According to fetal autopsy or vessel casting , the ultrasound results of 37 fetuses with heterotaxia syndrome were retrospectively analyzed . The cardiovascular misinterpretations of ultrasound were summarized in the venous-atrialsegment,atrial-ventricular segment andventricular-arterial segment.Results ①Thirty fetuses underwent autopsy and seven fetuses vessel casting were included ,there were 10 fetuses with left atrial isomerism and 27 fetuses with right atrial isomerism .Only one left isomerism was misdiagnosed and the diagnostic accuracy of atrial isomerism by ultrasound was 97 .3% . ② Thirty-seven fetuses with heterotaxia syndrome included 206 cardiovascular malformations . Twenty-seven misinterpretations of ultrasound were found and the rate of cardiovascular misinterpretations was 13 .1% . ③ The cardiovascular misinterpretations of left atrial isomerism involved 1 secondary atrial septal defect in the atrial-ventricular segment and 1 aortic atresia ,2 anomalous position of arterial duct in the ventricular-arterial segment . ④The cardiovascular misinterpretations of right atrial isomerism in the venous-atrial segment included 4 common pulmonary vein atresia , 3 anomalous hepatic venous connection , 3 total abnormal pulmonary venous drainage , 2 persistent left superior vena cava and 2 abnormal inferior cava venous drainage . The cardiovascular misinterpretations of right atrial isomerism in the atrial-ventricular segment contained 2 secondary atrial septal defect ,1 unroofed coronary sinus and 1 partial atrioventricular septal defect . The cardiovascular misinterpretations of right atrial isomerism in the ventricular-arterial segment involved 3 double-outlet right ventricle ,1 truncus arteriosus and 1 anomalous position of arterial duct . Conclusions The correspondence between ultrasound results and pathological findings about cardiovascular malformations of heterotaxia syndrome is high . The most common cardiovascular misinterpretations of left atrial isomerism involve the ventricular-arterial segment . And the most common cardiovascular misinterpretations of right atrial isomerism involve the venous-atrial segment .
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We reported two fetal cases diagnosed with Smith-Magenis syndrome.One case was found with bilateral ventriculomegaly,double-outlet right ventricle,pulmonary stenosis and ventricular septal defect when performing fetal echocardiography.Then the fetus was diagnosed with severe tetralogy of Fallot and tortuous ductus arteriosus by autopsy.The other case was suggested to have tetralogy of Fallot,right aortic arch and ectopic ductus arteriosus by fetal echocardiography,which was later confirmed by autopsy.Both of the two pregnancies were terminated.Tissue samples of the two fetuses were analyzed by the low-coverage whole-genome sequencing,and both cases carried a microdeletion of 3.63 Mb and 4.86 Mb in chromosome 17pl 1.2,which overlapped with the missing segments causing Smith-Magenis syndrome.Therefore,the two fetuses were both diagnosed with Smith-Magenis syndrome.
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Objective To analyze the echocardiographic findings , associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect ( PA/VSD ) . Methods T he echocardiographic data and follow‐up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to M arch 2018 in the consultation center of fetal heart disease in maternal‐fetal medicine in Anzhen hospital . Of all the fetuses ,59 cases ( 0 .19% ) had PA/VSD . T he echocardiographic findings ,associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD . Based on w hether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries ( M APCAs) or not ,the PA‐VSD was classified into type A ,type B ,and type C . Results A large ventricular defect was demonstrated in five‐chamber view with 61 .7% of the mean ratio of the aortic overriding . O ther fetal echocardiographic features of all the 59 fetuses with PA/VSD included :the right aortic arch ( n =19 ) ,reversal flow in the ductus arteriosus ( n =40 ) ,M APCAs ( n =24) . T he classification of the PA/VSD included :type A ( n =35) ,type B ( n =5) and type C ( n =19) . Associated anomalies :persistent left superior vena cava ( n = 13 ) ,anomalous pulmonary vein connection ( n=5 ) ,complete atrioventricular septal defect ( n = 5 ) ; single umbilical artery ( n = 3 ) ,right atrial isomerism ( n =3) . Of all the 30 cases performed chromosomal test ,3 cases had aneuploidy and 7 cases had microdeletion of chromosome . Conclusions The fetal echocardiographic findings of the PA/VSD are characteristic . For prenatal diagnosis of PA/VSD ,the type of PA/VSD should be defined and chromosomal test should be performed ,w hich can be helpful for prenatal consulting .
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Objective To summarize the characteristics of two‐dimensional ( 2D ) ultrasound , spatiotemporal imaging correlation ( ST IC ) and vascular casting of fetal inferior vena cava ( IVC ) malformations ,analyze the clinical characteristics and the prognosis of fetal IVC malformations ,and explore the early diagnostic value of fetal echocardiography for fetal IVC malformations . Methods Sixty‐one cases of fetal IVC malformation diagnosed by fetal echocardiography in Beijing Anzhen Hospital M aternal Fetal M edical Consultation Center were retrospectively analyzed . T he clinical data ,echocardiographic features , genetic testing information and prognosis were summarized . Results ① In the 61 cases of IVC malformation ,there were 51 cases of absence of IVC ,46 cases of absence of liver segment ,5 cases of absence of left IVC hepatic segment ,9 cases of left IVC ( including 5 cases of left IVC and absence of IVC hepatic segment) ,5 cases of double IVC ,and 1 case of right hepatic vein reflux . ② Ten fetuses of the 61 fetuses were simple IVC deformity without any other malformations . O ther venous malformations included 7 cases of absence of right superior vena cava and persistent left superior venacava , 2 cases of absence of venous catheters ,and 3 cases of persistent right umbilical vein ,2 cases were merged alone ; 49 cases were merged with intracardiac structural malformations and arrhythmia . ③ T hirty‐eight pregnant women underwent Down′s screening or non‐invasive DNA ,all of which were at low risk .Four cases underwent amniocentesis , and no obviously abnormality was found . Sixteen cases underwent autopsy and genome sequencing after induced labor , one was single gene abnormalities ( ZFPM 2 classical mutation ) . ④ STIC images were collected in 20 cases ,and 19 cases were clearly visualized . ⑤Vascular cast was made to show the shape of blood vessel more clearly and stereoscopically in 4 cases of absent hepatic segment of IVC . ⑥Eleven fetuses were born and confirmed from the results of postnatal ultrasound ,w ho were healthy in follow‐up ; 16 fetuses were induced labor ; 33 fetuses were losed during follow‐up ; 1 fetus died after birth ( arrhythmia ) . Conclusions Fetal echocardiography combined with STIC technology can clearly diagnose the anomalies of IVC . Vascular casting can provide stereoscopic and visual manifestations of the anomalies of IVC . The prognosis of simple anomalies of IVC is good .
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Objective@#To analyze the feasibility of prenatal ultrasound quantitative measurement of the angles between trachea and bilateral bronchi as a new diagnostic tool for fetuses with heterotaxy syndrome.@*Methods@#The angles between trachea and bilateral bronchi were measured at 18-34+6 gestational weeks for 200 fetuses with normal ultrasound findings (normal group) and 41 fetuses with heterotaxy syndrome [35 right atrial isomerisms (right group) and six left atrial isomerisms (left group)] diagnosed by ultrasound and confirmed after abortion or induction (case group) in Chongqing Health Center for Women and Children from October 2015 to December 2018. Scatter plots of left/right bronchus angle (α/β) ratios were drawn. Differences in bilateral bronchus angles between the three groups were statistically analyzed using one-way analysis of variance and paired t-test.@*Results@#In the normal group, scatter plots showed the α/β ratios were relatively constant at 0.8-1.0 with larger β than α (t=-33.14, P<0.05), indicating that the right bronchus always went more steeply than the left one. In the case group, the α/β ratios were around 1.0. In the right group, the α value increased and was close to the β value [(153.90±5.43)° vs (156.02±5.59)°, t=-2.56, P>0.05] and presented as bilateral right bronchial angle; in the left group, the β value decreased and was close to the α value [(147.38±3.16)° vs (148.82±5.56)°, t=-1.18, P>0.05] and presented as bilateral left bronchial angle. There were significant differences in the α and β values among the normal group, the right and left groups (all P<0.05), and the bronchial angles of the right group were both greater than those of the left group (all P<0.05).@*Conclusions@#Prenatal ultrasound measurement of the angles between trachea and bilateral bronchi can be used as an indirect indicator for the diagnosis of heterotaxy syndrome.