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• W2895799295 abstract "To explore the application values of prenatal ultrasound, vascular cast, and gene detection in the diagnosis of fetal aortic arch and its branches anomalies. A total of 22 cases of the vascular cast specimens of the fetal aortic arch and its branches anomalies were analysed and studied by comparing with their prenatal ultrasonography. Then the characteristics of each type of fetal aortic arch and its branches anomalies, the missed diagnosis and misdiagnosis were summarised and the results of their gene detection were also analysed. We studied 22 cases of fetal aortic arch and its branches anomalies, including 1) 2 cases of double aortic arch, 2) 3 cases of left aortic arch, all of which were left aortic arch with aberrant right subclavian artery, 3) 12 cases of right aortic arch, in which 8 cases of right aortic arch with mirror-image branching, 3 cases of right aortic arch with aberrant left subclavian artery, 1 case of right aortic arch with isolated left subclavian artery, and 4) 5 cases of other types, including 2 cases of the coarctation of aortic arch, 1 case of interrupted aortic arch, 1 case of pulmonary artery sling, and 1 case of abnormal origin of right pulmonary artery. The prenatal echocardiography missed or incorrectly diagnosed 11 cases. Genetic test showed 1 case had 22q11.2 microdeletion syndrome and 1 case carried KMT2D gene variant in the 18 cases studied. Fetal aortic arch and its branches anomalies are heterogeneous and clinically challenging to diagnose. Vascular cast can visually display their specific anatomical specifics to help accurate diagnosis of these defects. Gene detection can help to understand their etiological changes and help to improve the further understanding of fetal aortic arch and its branches anomalies. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
• W2895799295 created "2018-10-26" @default.
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• W2895799295 date "2018-10-01" @default.
• W2895799295 modified "2023-10-18" @default.
• W2895799295 title "P13.07: Fetal aortic arch and its branches anomalies: prenatal ultrasound, vascular cast and gene detection" @default.
• W2895799295 doi "https://doi.org/10.1002/uog.19719" @default.
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