Genetic etiology of fetal conotruncal defects and significance of copy number variation sequencing and whole exome sequencing: analysis of 196 cases / 中华围产医学杂志

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.

Comparative study of umbilical venous blood flow between congenital heart disease and normal fetus / 中华超声影像学杂志

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.

Pathogenesis, prenatal diagnosis and clinical features of fetal cardiomyopathies / 中华超声影像学杂志

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.

The study on brain biometry and cerebral hemodynamics in fetuses with hypoplastic left heart syndrome in the second trimester of gestation / 中华超声影像学杂志

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.

Hemodynamic analysis in the fetuses with ductus arteriosus constriction or closure by conventional fetal echocardiography combined with fetal heart quantification technology / 中华超声影像学杂志

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.

The post left atrium space index in normal fetus and its diagnostic value for fetal isolated total anomalous pulmonary venous connection / 中华超声影像学杂志

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.

Application of artificial intelligence in screening the four-chamber view of fetal echocardiography / 中华超声影像学杂志

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.

Echocardiographic and pathological features of fetal Kabuki syndrome / 中华围产医学杂志

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.

Fetal echocardiographic features and clinical phenotype of 22q11.2 microdeletion syndrome: analysis of 46 cases / 中华围产医学杂志

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.

Analysis of missed diagnosis of fetal mitral valve diseases by prenatal ultrasound / 中华超声影像学杂志

Objective@#To summarize the pathology and ultrasonic characteristics of fetal mitral valve diseases and improve their prenatal diagnostic accuracy by ultrasound.@*Methods@#Ultrasonic data of fetuses with mitral valve diseases, diagnosed by autopsy from January 2011 to December 2017 in Fetal Heart Disease Maternal Fetal Medicine Research Important Laboratories were retrospectively analyzed. Their ultrasound features and causes of missed diagnosis were analyzed.@*Results@#①The pathologic types included mitral atresia(22 cases, 59.5%), mitral valve dysplasia(13 cases, 35.1%) and mucoid degeneration[2 cases (1 case was diagnosed with Marfan syndrome with dilated aortic sinus and sinus of pulmonary trunk), 5.4%]. ②Fetal ultrasound could detect mitral atresia and mucoid degeneration of mitral valve. There were five cases of mitral valve dysplasia which were missed by ultrasound.And the accuracy rate of ultrasonic diagnosis was 86.5%(32/37). ③The missed subtypes of mitral valve dysplasia included mild-moderate mitral stenosis with coarctation of aorta (4 cases) and mitral valve dysplasia with functional aortic atresia(1 case).@*Conclusions@#Fetal mitral valve diseases involve a variety of anatomical abnormalities and the main types are mitral atresia and mitral valve dysplasia. Mucoid degeneration of mitral valve is rare and it may belong to Marfan syndrome when combined with dilated aortic sinus and sinus of pulmonary trunk. Fetal ultrasound can identify mitral atresia and mucoid degeneration of mitral valve, but it may miss the diagnosis of some subtypes of mitral valve dysplasia, such as mild-moderate mitral stenosis with aortic coarctation and mitral valve dysplasia with functional aortic atresia.

Prenatal echocardiographic characteristics and prognosis of fetal pulmonary artery sling: analysis of 13 cases / 中华围产医学杂志

Objective@#To analyze the echocardiographic features and prognosis of fetal pulmonary artery sling (PAS).@*Methods@#In this retrospective study, clinical information of 13 PAS cases diagnosed by fetal echocardiography in Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2016 to December 2018 were collected. Echocardiographic characteristics and complications of intracardiac and extracardiac malformations were summarized. Their outcomes were also analyzed.@*Results@#(1) Two out of the 13 pregnant women continued their pregnancies until delivery, while the other 11 terminated the pregnancies. One neonate received surgery in another hospital after birth and was followed up to one year old with normal growth and development. The other infant was lost to follow up after birth. (2) Among the 13 cases, 12 were complete PAS and one (case 13) was partial PAS. Nine cases were complicated by other intracardiac malformations and five by extracardiac malformations. (3) Pulmonary artery development: Echocardiographic data of ten cases (the other three cases were excluded due to absence of detailed echocardiographic information) revealed that one fetus had tetralogy of Fallot with the diameter of pulmonary valve under normal value, while the pulmonary valve diameters of the other nine cases were all within the normal range. The inner diameter of the left and the right pulmonary artery that below the normal values were observed in four and two cases, respectively. One case showed absent distal end of right pulmonary artery with right pulmonary dysplasia, but the normal inner diameter at the beginning of right pulmonary artery.@*Conclusions@#Fetal PAS is more likely to be complicated by persistent left superior vena cava (PLSVC) and ventricular septal defect (VSD) as well as left and right pulmonary artery stenosis. The prognosis of PAS may be improved if operation is performed after birth, but further studies are needed.

Prenatal echocardiographic characteristics and prognosis of fetal pulmonary artery sling: analysis of 13 cases / 中华围产医学杂志

Objective To analyze the echocardiographic features and prognosis of fetal pulmonary artery sling (PAS). Methods In this retrospective study, clinical information of 13 PAS cases diagnosed by fetal echocardiography in Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2016 to December 2018 were collected. Echocardiographic characteristics and complications of intracardiac and extracardiac malformations were summarized. Their outcomes were also analyzed. Results (1) Two out of the 13 pregnant women continued their pregnancies until delivery, while the other 11 terminated the pregnancies. One neonate received surgery in another hospital after birth and was followed up to one year old with normal growth and development. The other infant was lost to follow up after birth. (2) Among the 13 cases, 12 were complete PAS and one (case 13) was partial PAS. Nine cases were complicated by other intracardiac malformations and five by extracardiac malformations. (3) Pulmonary artery development: Echocardiographic data of ten cases (the other three cases were excluded due to absence of detailed echocardiographic information) revealed that one fetus had tetralogy of Fallot with the diameter of pulmonary valve under normal value, while the pulmonary valve diameters of the other nine cases were all within the normal range. The inner diameter of the left and the right pulmonary artery that below the normal values were observed in four and two cases, respectively. One case showed absent distal end of right pulmonary artery with right pulmonary dysplasia, but the normal inner diameter at the beginning of right pulmonary artery. Conclusions Fetal PAS is more likely to be complicated by persistent left superior vena cava (PLSVC) and ventricular septal defect (VSD) as well as left and right pulmonary artery stenosis. The prognosis of PAS may be improved if operation is performed after birth, but further studies are needed.

Analysis of missed diagnosis of fetal mitral valve diseases by prenatal ultrasound / 中华超声影像学杂志

Objective To summarize the pathology and ultrasonic characteristics of fetal mitral valve diseases and improve their prenatal diagnostic accuracy by ultrasound.Methods Ultrasonic data of fetuses with mitral valve diseases,diagnosed by autopsy from January 2011 to December 2017 in Fetal Heart Disease Maternal Fetal Medicine Research Important Laboratories were retrospectively analyzed.Their ultrasound features and causes of missed diagnosis were analyzed.Results ①The pathologic types included mitral atresia(22 cases,59.5％),mitral valve dysplasia(13 cases,35.1％)and mucoid degeneration[2 cases (1 case was diagnosed with Marfan syndrome with dilated aortic sinus and sinus of pulmonary trunk), 5 .4％].②Fetal ultrasound could detect mitral atresia and mucoid degeneration of mitral valve.There were five cases of mitral valve dysplasia which were missed by ultrasound.And the accuracy rate of ultrasonic diagnosis was 86.5％(32/37).③The missed subtypes of mitral valve dysplasia included mild-moderate mitral stenosis with coarctation of aorta(4 cases)and mitral valve dysplasia with functional aortic atresia(1 case).Conclusions Fetal mitral valve diseases involve a variety of anatomical abnormalities and the main types are mitral atresia and mitral valve dysplasia.Mucoid degeneration of mitral valve is rare and it may belong to Marfan syndrome when combined with dilated aortic sinus and sinus of pulmonary trunk.Fetal ultrasound can identify mitral atresia and mucoid degeneration of mitral valve,but it may miss the diagnosis of some subtypes of mitral valve dysplasia,such as mild-moderate mitral stenosis with aortic coarctation and mitral valve dysplasia with functional aortic atresia.

Analysis of cardiovascular misinterpretations of prenatal ultrasound diagnosis in fetuses with heterotaxia syndrome / 中华超声影像学杂志

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 .

Diagnosis and prognosis of fetal inferior vena cava malformation by fetal echocardiography / 中华超声影像学杂志

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 .

Fetal pulmonary atresia with ventricular septal defect :echocardiographic findings ,associated anomalies and chromosomal characteristics / 中华超声影像学杂志

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 .

Cerebral hemodynamics in fetuses with complete transposition of the great arteries in the second trimester of pregnancy / 中华超声影像学杂志

Objective To explore the effect of blood oxygen saturation on the hemodynamics in fetuses with complete transposition of the great artery ( CTGA ) without outflow tract obstruction in the second trimester of pregnancy . Methods The brain biometry and hemodynamics parameters were retrospectively analyzed in 38 fetuses with CTGA from multiple medical centers .All the fetuses with CTGA were divided into two groups ,ventricular septal defect ( VSD) group( 14 cases) and no VSD group( 24 cases) according to the VSD . Twenty-four gestational age (GA)-matched fetuses were chosed as control group . The biparietal diameter (BPD) and head circumference ( HC) ,pulsatility indexes ( PI) in the middle cerebral artery (MCA) and the umbilical artery ,the cerebroplacental ratio (CPR) were compared among different groups . Results There were no significant differences in GA ,BPD ,HC ,MCA-PI ,UA-PI and CPR among control group ,CTGA with VSD group and CTGA without VSD group in the second trimester of pregnancy ( P ＞0 .05) . Conclusions The altered oxygen saturation of the cerebral circulation in CTGA does not affect the brain biometry and hemodynamics in fetuses in the mid-gestational age .

Echocardiographic characteristics and pregnant outcome in fetuses with complete closure of the ductus arteriosus / 中华超声影像学杂志

Objective To explore the echocardiographic features and pregnant outcomes in fetuses with complete closure of the ductus arteriosus ( DA) . Methods The echocardiographic data and follow-up materials were retrospectively reviewed in 28605 fetuses . Of all the fetuses ,6 fetuses had complete closure of the DA . The echocardiographic features and pregnant outcomes of the 6 fetuses with complete closure of the DA were summarized . Results Of all the 6 fetuses ,4 cases were found in the third trimester and 2 cases in the second trimester . There was no the lumen of the DA in the three vessel view on the two dimensional echocardiography ,demonstrating the line-like low echogenicity in the DA area . No DA flow signal was found on the color and spectral Doppler imaging . Four cases had dilated right heart .Six cases had thickened wall of the right ventricle ( WRV ) ,and hypokinetic motion of the WRV . Moderate to severe tricuspid regurgitation were found in 5 cases and disappeared or reversal a-wave of the ductus venosus were found in 5 cases . The mild pericardial effusion was found in 2 cases . Of all the 6 cases ,4 cases were delivered by cesarean section and the echocardiographic findings were unremarkable at the follow -up of six months . Conclusions Intrauterine complete closure of the DA can be accurately diagnosed by fetal echocardiograph in the 2-3 trimesters . If indicated ,elective delivery results in good outcome .

Prenatal ultrasonic diagnosis of fetal persistent left and absent right superior vena cava / 中国医学影像技术

Objective To investigate characteristics and value of prenatal ultrasound in diagnosing persistent left and absent right superior vena cava.Methods Ultrasonic data of 8 fetuses with persistent left and absent right superior vena cava were retrospectively analyzed.Ultrasonic findings of persistent left and absent right superior vena cava and other complicated anomalies were observed,and the outcomes were followed up.Results The ultrasonic characteristics of persistent left and absent right superior vena cava included a vessel which could be seen on the left of pulmonary artery on three vessel-trachea view draining into the dilated coronary sinus,and right superior vena cava was absent.With combined spatio-temporal image correlation (STIC) and high definition flow (HDF) technique,the spatial relationship of the left superior vena cava,aorta and pulmonary artery could be observed.Dilated coronary sinus was found in all 8 fetuses,other congenital heart defects were detected in 5 fetuses,and extracardiac anomaly was found in 1 fetus.Conclusion Persistent left and absent right superior vena cava and complicated anomalies can be accurately diagnosed with prenatal ultrasound.Dilated coronary sinus is an important clue for prenatal ultrasonic diagnosis.

Prenatal echocardiography in diagnosis of fetal cardiac tumors / 中国医学影像技术

Objective To observe the echocardiographic characteristics,genetic test and outcome of fetal cardiac tumors.Methods Echocardiographic data of 55 fetuses with cardiac tumors were retrospectively analyzed,and the echocardiographic characteristics were observed.Pathological and genetic test were performed on terminated fetuses.Peripheral blood was obtained from newborns for genetic test,and followed up was performed.Results In 55 fetuses with cardiac tumors,37 fetuses were terminated,7 fetuses were delivered and 11 fetuses were lost in follow-up.Solitary tumor was found in 14 fetuses,while multiple tumors were detected in 41 fetuses.Pathological examination was performed on 28 fetuses after termination,and 27 rhabdomyomas and 1 hemangioma were diagnosed.Fetal rhabdomyomas were found hyperechogenic,well demarcated and ovoid lesion,located at atrial and ventricular wall without blood flow with ultrasound.Tuberous sclerosis complex (TSC) genetic test was made in 24 terminated fetuses,and 19 positive and 5 negative results were obtained.In 7 newborns,spontaneous tumor regression occurred in 4 and tumor persistent in 3,while TSC genetic test positive in 2 and negative in 1 were detected.Conclusion Rhabdomyoma is the most common cardiac tumor in fetuses.Fetuses with multiple rhabdomyomas might be highly suspected of TSC,and then genetic test should be suggested.