ABSTRACT
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.
ABSTRACT
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.