The prenatal diagnosis and prognosis of fetal right aortic arch and double aortic arch malformation: A single-center study.

Objective To investigate the ultrasonic imaging features of and differential diagnosis methods for the right aortic arch, to analyze the causes of missed diagnosis and misdiagnosis, and to further improve the accuracy of prenatal ultrasound diagnosis. Methods Cardiac screening examination of the fetus was carried out with views of gray-scale and color Doppler or power Doppler imaging (PDI). When the three-vessel tracheal (3VT) view found that the aortic arch was located in the right of the trachea, the coronary views of the trachea and its branches were obtained to further clarify the relationship among the aortic arch, arterial ductus, and trachea. The sonographic features of 31 cases of fetal right aortic arch were summarized, and the reasons for misdiagnosis were analyzed. Results Of the 31 cases of fetal right aortic arch diagnosed by prenatal ultrasound, 20 were alive, 15 were induced, and 6 were lost. As for the results of echocardiography for postpartum children, operation or autopsy were obtained in 31 cases, of which 6 had misdiagnosis or missed diagnosis by prenatal ultrasonography. The coronal views of the trachea and its branches were not obtained in two cases of fetal left aortic arch, and they were misdiagnosed as right aortic arch because the transversely sectioned bronchus were mistaken as the transversely sectioned trachea in the 3VT view. In two cases of right aortic arch with aberrant left subclavian artery, the left common carotid artery was misdiagnosed as a stunted left arch, which resulted in a misdiagnosis as a double aortic arch of the advantage type. In two cases of right aortic arch combined with cardiac defects, right aortic arch was missed in prenatal ultrasound diagnosis. Of 20 children who were followed, 13 were diagnosed with isolated right aortic arch, 2 with combined persistent left superior cavity, 1 with combined 2-3 lumbar vertebral body fusion, and 2 with combined right aortic arch inner or outer non-complex structure abnormality. Follow-up was conducted to the maximum age up to 3 years and 6 months, and 18 of these cases were in good condition and showed no symptoms of respiratory tract compression. One case suffered from complicated intracardiac malformation combined with IDD type congenitally corrected transposition of the great arteries. The child is currently in good condition 11 months after the delivery. One case suffered from combined esophageal atresia and died 14 days after delivery. Chromosome karyotype determination was performed in 6 cases, of whom 5 were normal and 1 was confirmed to have 18-trisomy with severe intracardiac multiple malformation. Conclusions The 3VT view is the most important view for diagnosis of right aortic arch of fetus. The accuracy of prenatal ultrasound diagnosis can be improved through the combination of the 3VT view and the coronal view of the trachea and its branches. Simple right aortic arch offers a good prognosis, and the prognosis of right aortic arch with severe ectopic and extracardial malformations depends on the severity of the combined malformation. Key words: Fetal right aortic arch; Ultrasonography, prenatal; Pregnancy outcome

Objective To investigate the value of prenatal echocardiographic diagnosis of anomalies of the right aortic arch(RAA) and its branch type, and provide rapid diagnostic methods. Methods A retrospective analysis of 55 cases of RAA of prenatal ultrasound diagnosis results, and their imaging characteristics were summarized. Results There were 55 cases of anomalies of the RAA, included 42 cases of RAA with aberrant left subclavian artery(RAA-ALSA) and 13 cases of RAA with mirror image branching pattern(RAA-MB), 1 case of double aortic arch(DAA) was misdiagnosed as RAA. The prenatal echocardiographic characteristics of RAA-ALSA: in three-vessel-aortic arch view, the first branch of the aortic arch was the left carotid artery, which ran in front of the trachea, and ALSA ran behind the trachea and esophagus. The prenatal echocardiographic characteristics of RAA-MB: the first branch of the aortic arch was the brachiocephalic trunk, which ran in front of the trachea and was divided to the left carotid artery and the left subclavian artery. Conclusions Prenatal ultrasound can qunickly and accurately diagnose anomalies of the right aortic arch and its branch type according to the direction, thickness and secondary branches of the first branch of the aortic arch. The location of arterial duct is helpful to judge the formation of vascular ring. Key words: Ultrasonography, prenatal; Right aortic arch; Vascular ring

Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. In a patient with isolated right aortic arch, 22q11 microdeletion had been revealed. Given this data, we strongly suggest foetal karyotype analysis when aortic arch anomalies are identified.Impact StatementWhat is already known on this subject: The data about the prenatal diagnosis of aortic arch anomalies are limited.What the results of this study add: In our study, 653 patients were examined by foetal echocardiography during the study period. Thirty three patients who had been diagnosed with aortic arch anomaly prenatally and confirmed after delivery were enrolled in the study. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. Trisomy 18 was detected in the patient with bilateral ductus arteriosus and Di George syndrome (22q11 microdeletion) was determined in two patients with right aortic arch. While in the first patient, there were no other intracardiac anomalies; in the second patient with 22q11 microdeletion, Fallot tetralogy accompanied the right aortic arch.What the implications are of these findings for clinical practice and/or further research: This results showed that aortic arch anomalies can be associated with genetic anomalies even when they are found without other congenital heart disease. Given these data, we strongly suggest foetal karyotype analysis and genetic testing when aortic arch anomalies are identified.

We determined the relationship between aortic arch anatomy in tetralogy of Fallot with pulmonary stenosis and chromosomal or genetic abnormality, by performing analysis of 257 consecutive patients undergoing surgical repair from January, 2003 to March, 2011. Chromosomal or genetic abnormality was identified in 49 of the 257 (19%) patients. These included trisomy 21 (n = 14); chromosome 22q11.2 deletion (n = 16); other chromosomal abnormalities (n = 9); CHARGE (n = 2); Pierre Robin (n = 2); and Kabuki, Alagille, Holt-Oram, Kaufman McKusick, Goldenhar, and PHACE (n = 1 each). Aortic anatomy was classified as left arch with normal branching, right arch with mirror image branching, left arch with aberrant right subclavian artery, or right arch with aberrant left subclavian artery. Associated syndromes occurred in 33 of 203 (16%) patients with left arch and normal branching (odds ratio 1); three of 36 (8%) patients with right arch and mirror image branching (odds ratio 0.4, 95% confidence interval 0.1-1.6); seven of eight (88%) patients with left arch and aberrant right subclavian artery (odds ratio 36, 95% confidence interval 4-302); and six of 10 (60%) patients with right arch and aberrant left subclavian artery (odds ratio 8, 95% confidence interval 2-26). Syndromes were present in 13 of 18 (72%) patients with either right or left aberrant subclavian artery (odds ratio 15, 95% confidence interval 4-45). Syndromes in patients with an aberrant subclavian artery included trisomy 21 (n = 4); chromosome 22q11.2 deletion (n = 5); and Holt-Oram, PHACE, CHARGE, and chromosome 18p deletion (n = 1 each). Aberrant right or left subclavian artery in tetralogy of Fallot with pulmonary stenosis is associated with an increased incidence of chromosomal or genetic abnormality, whereas right aortic arch with mirror image branching is not. The assessment of aortic arch anatomy at prenatal diagnosis can assist counselling.

To assess the characteristics and the outcome of right and double aortic arch without any associated major intracardiac defect. Observational trial of 16 fetuses with a confirmed diagnosis of right aortic arch (14 cases) or double aortic arch (2 cases). All of them underwent fetal echocardiography and detailed anatomic scan. Karyotyping was performed in 13/16 cases; FISH analysis to detect 22q11 microdeletion in 12/16 cases. The following variables were retrieved from databases and evaluated: indication for referral, gestational age at diagnosis, associated anomalies, fetal growth restriction, fetal/neonatal outcome. Sixteen fetuses were identified with a median gestational age at diagnosis of 26 weeks (range 21–35). Arch anomalies included: double aortic arch (2 cases, 12.5%), right aortic arch with an aberrant left subclavian artery (5 cases, 31.3%), and right aortic arch with mirror image branching (9 cases, 56.2%). In all but 2 cases the correct diagnosis was made at the first US examination; in the remaining 2 cases at the subsequent follow up examination. In two fetuses a ventricular septal defect was associated. Extracardiac anomalies were found in six cases, and were associated with 22q11 microdeletion in two cases. The 22q11 microdeletion was present in 3/12 cases. Fetal growth restriction was present in 3 cases. Fetal/neonatal outcome was as follows: 3 terminations of pregnancy, 1 post-neonatal death and 12 neonates alive. One case was already symptomatic within the first 3 months of life. Although there are only few reports, because of its not easily detection and rarity, right and double aortic arch can be characterized in prenatal life. However in 2/16 cases the correct diagnosis was made at the subsequent follow up examination. The use of 3-D PDU rendering facilitates significantly the spatial understanding of these anomalies.

Type B Aortic Dissection Involving an Isolated Right-Sided Aortic Arch

An analysis was made of 78 pathologic specimens in which a right aortic arch was present. In four, the right arch was part of a double aortic arch. In 74 cases the right aortic arch was the only arch. The cases of right aortic arch could be subdivided into two groups as follows: (1) that with a retroesophageal aortic segment (three cases) and (2) that without a retroesophageal segment (71 cases). The latter cases could be subdivided according to the nature of the origin of the branches of the arch as follows: (1) mirror image branching (60 cases), (2) aberrant left subclavian artery (ten cases) and (3) isolation of left subelavian artery (one case). Congenital heart disease, of which the tetralogy of Fallot was the most common, was observed in each of the cases of right arch without retroesophageal aortic segment. Such an association was seen in one of three cases of right aortic arch with retroesophageal aortic segment and in three of the four cases of double aortic arch. The potential for significant tracheal and esophageal obstruction is present in double aortic arch, in right aortic arch with retroesophageal segment and in right aortic arch without retroesophageal segment but with an aberrant left subelavian artery. In the latter condition, significant esophageal and tracheal compression depends upon the presence of a left-sided ductus arteriosus. This state was observed in five of ten cases with right aortic arch and aberrant left subelavian artery.

Objective To explore the application values of prenatal ultrasound, vascular cast in the diagnosis of fetal aortic arch and its branches anomalies and to analyze the genetic characteristics by gene detection. Methods Twenty-two cases of the vascular cast specimens of the fetal aortic arch and its branches anomalies were analyzed 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 summarized and the results of their gene detection were also analyzed. Results The 22 cases of fetal aortic arch and its branches anomalies were as follows: 2 cases of double aortic arch showed the ascending aorta was divided into two branches after converging as the descending aorta. Three cases were left aortic arch with aberrant right subclavian artery. Twelve cases were right aortic arch: 8 cases were right aortic arch with mirror-image branching, 3 cases were right aortic arch with aberrant left subclavian artery, 1 case was right aortic arch with isolated left subclavian artery. Of the 8 right aortic arch with mirror-image branching, 3 cases of left arterial duct showed the vertical walking between the fusion site of the left innominate artery and the pulmonary artery. Right aortic arch with aberrant left subclavian artery with arterial duct showed U shaped vascular ring. Five cases were 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 ultrasonic missed diagnosis were the 6 deformities: 3 cases of arterial duct and 3 cases of aberrant subclavian artery. The ultrasonic misdiagnosis were the 5 deformities: 2 cases of arterial duct location, 1 case of aberrant subclavian artery, 1 case of isolated left subclavian artery, and 1 case of the coarctation of aortic arch. Genetic test results: In the 18 cases of the genetic detection, 2 cases were positive, 1 case was 22q11.2 microdeletion syndrome and 1 case was carrying KMT2D gene variant. Conclusions There are various kinds of fetal aortic arch and its branches anomalies, which are often associated with intracardiac malformations and venous branches variation. And prenatal ultrasound is of great value in diagnosing them.Vascular cast can visually display their characteristic changes, which is helpful to improve the differential diagnosis of the different aortic arch and its branches anomalies. The detailed genetic detection can improve the further understanding of its etiology. Key words: Ultrasonography, prenatal; Fetus; Aortic arch anomalies; Vascular cast; Gene detection

We aimed to evaluate retrospectively associated anomalies and outcome in prenatal aortic arch anomalies (AAAs). We included ninety patients with aberrant right subclavian artery (ARSA), right aortic arch (RAA) with mirror image branching (RAA-mirror) or aberrant left subclavian artery (RAA-ALSA) and double aortic arch (DAA) between 2011 and 2020. In total, 19/90 (21.1%) had chromosomal anomalies, the highest rate being within the ARSA subgroup (17/46, 37%). All (13/13) of the RAA-mirror subgroup, 10/27 (37.0%) of RAA-ALSA, 13/46 (28.3%) of ARSA and 0/4 within the DAA subgroup had additional intracardiac anomaly. The rate of extracardiac anomalies was 30.7% in RAA-mirror, 28.3% in ARSA, 25.0% in DAA and 22.2% in the RAA-ALSA subgroup. A total of 42/90 (46.7%) had isolated AAAs: three (7.1%) with chromosomal anomalies, all trisomy 21 (3/26, 11.5%) within the ARSA subgroup. Out of 90, 19 (21.1%) were lost to follow-up (FU). Two (2.2%) intrauterine deaths occurred, and six (6.7%) with chromosomal anomalies terminated their pregnancy. In total, 63 (70.0%) were liveborn, 3/63 (4.8%) with severe comorbidity had compassionate care and 3/60 (5.0%) were lost to FU. The survival rate in the intention-to-treat cohort was 53/57 (93%). Forty-one (77.4%) presented with vascular ring/sling, two (4.9%) with RAA-ALSA developed symptoms and one (2.4%) needed an operation. We conclude that intervention due to vascular ring is rarely necessary. NIPT could be useful in isolated ARSA cases without higher a priori risk for trisomy 21 and after exclusion of other anomalies.

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

Objective To explore the value of MRI in the diagnosis of fetal aortic arch anomalies. Methods We retrospectively collected 10 fetuses with aortic arch anomalies indicated by prenatal ultrasound and underwent MR examination and were subsequently proven by autopsy or post-birth follow-up from 320 pregnant women. We focused on the observations of the location of the aortic arch and brachiocephalic artery anomalies, the locations of the liver and stomach in the abdominal cavity, and the large vessels in abdomen. The above-mentioned finding were compared with prenatal ultrasound and follow-up findings. Results Of 10 cases, right aortic arch with aberrant left subclavian artery was seen in 7 cases, right aortic arch with the mirror branch, left aortic arch with aberrant right subclavian artery, right aortic arch with aberrant left subclavian artery combined with cervical aortic arch and double aortic arch was seen in 1 case, respectively. All aortic arch anomalies detected by MRI were consistent with post-birth or autopsy findings. Ultrasound misdiagnosed aortic branch malformation in 5 places, which included right aortic arch but misdiagnosed aberrant left subclavian artery in 2 cases, right aortic arch never diagnosed mirror branch anomaly in 1 case, right aortic arch with left subclavian artery misdiagnosed cervical aortic arch in 1 case, left atrial isomerism but misdiagnosed left aortic arch with aberrant right subclavian artery in 1 case; One double aortic arch was misdiagnosed as right aortic arch with aberrant left subclavian artery in ultrasound. Conclusion Fetal cardiovascular MRI is an effective and supplementary examination to complement ultrasound in diagnosis of fetal aortic arch anomalies. Key words: Fetus; Aorta,thoracic; Vascular malformations; Magnetic resonance imaging

Objective To explore the ultrasonographic features, diagnostic clues and methods of fetal aortic arch anomalies, and to improve the diagnosis rate of prenatal ultrasonography for fetal aortic arch anomalies. Methods Fetuses with aortic arch anomalies diagnosed by prenatal ultrasound were selected as the study objects. The prenatal ultrasonographic features of the three views of the aortic arch were carefully observed. The three views included the followings: the transverse view(the view of three vessels and trachea), the sagittal view (the longitudinal view of the aortic arch), and the coronal view (the coronal view of the descending aorta). The prenatal diagnostic clues and diagnostic techniques of aortic arch anomalies were summarized and analyzed. Results Eighty-one cases with aortic arch anomalies were followed up. Fifteen cases were left-sided aortic arch and left-sided ductus arteriosus with aberrant right subclavian artery, 22 cases with right aortic arch and left-sided ductus arteriosus with aberrant left subclavian artery, 4 cases were mirror right aortic arch and left-sided ductus arteriosus, 2 cases were mirror right aortic arch and right-sided ductus arteriosus, 11 cases were double aortic arch, 23 cases were coarctation of the aorta, and 4 cases were interruption of aortic arch. Among them, 27 cases were complicated with other cardiac and extra-cardiac malformations and 13 cases with chromosomal abnormalities. Prenatal ultrasonographic clues for diagnosis of coarctation of the aorta included the three vessels and trachea view showing small diameter and disproportion to the diameter of the ductus arteriosus. And the longitudinal view of the aortic arch was helpful for showing the position and the extent of coarctation of the aorta. Prenatal ultrasonographic clues for diagnosis of interruption of aortic arch were that the three vessels and trachea view and the longitudinal view of the aortic arch showed the interruption between aortic arch and descending aorta. And the abnormal combination cases of the aortic arch segments also had their corresponding diagnostic clues. These clues included that the three vessels and trachea view showed abnormal position, arrangement and running of the branches of the aortic arch. And the coronal view of the descending aorta also showed abnormal changes in the branches of aortic arch. Conclusions Various types of congenital aortic arch anomalies have characteristic ultrasonography and their corresponding diagnostic clues and methods. The combined use of the three views of the aortic arch is effective in prenatal diagnosis for aortic arch anomalies. Key words: Ultrasonography, prenatal; Aortic arch anomalies; Diagnostic clues

To study diagnostic value of 64 multislice CT in typing of congenital aortic anomaly in neonates and infants. 120 pediatric patients (under one year of age) with congenital heart disease (CHD) underwent 64 contrast-enhanced MSCT before a corrective operations. The diagnostic sensitivity, specificity and accuracy of 64 MSCT were evaluated and also compared with those of echocardiography with Doppler. The patients were randomly assigned to two groups (72 and 48 persons) respectively according to tube tension of 80 and 100 kV. The differences of the image qualities were compared between them. 36 congenital aortic anomalies were found (36/120, 30%) by 64 MSCT, which were furtherly distinguished into 2 cases in double aortic arch, 2 cases in left-sided aortic arch with aberrant right subclavian artery, 22 cases in right aortic arch (6 cases in right-sided aortic arch with aberrant left subclavian artery, 12 cases in right aortic arch with mirror image branching), 10 cases in coarctation of aorta. Diagnostic sensitivity, specificity and accuracy of 64 MSCT were all 100%. By contrast, those of echocardiography with Doppler were 27.8%, 97.6%, 76.7%, respectively. The quality scores were 4.69 ± 0.52, 4.58 ± 0.58 at 80 kV and 100 kV, respectively. No significant statistical difference was found between them (t = 1.08, P = 0.28). MSCT allows a detailed assessment of the anatomy of congenital aortic anomaly, which can be used as an important supplementary method in diagnosing CHD and offer important information for operation. 80 kV should be selected in CHD patients less than one year old for CT examination to reduce radiation exposure.

To evaluate the value of MDCT on diagnosis of congenital vascular rings on children. Retrospective analysis on 43 cases of congenital vascular rings, which underwent MDCT during Oct 2008 to Dec 2014 in Beijing Anzhen hospital affiliated to capital medical university. 21 males, 22 females; age from 29 days to 8 years, mean age 1.46 years, 33 cases are not beyond 1 year. All the results were compared with that of the echocardiogram or record of the surgery. The CT data were read and reconstructed with multiplanar reconstruction (MPR), maximum intensity projection (MPR), minimum intensity projection (MinIP), volume rendering (VR). The image quality was evaluated and the diagnostic value and the standard diagnostic program were discussed. Of 43 cases of vascular rings:there were 6 cases of pulmonary artery sling (13.95%), 9 cases of right aortic arch /aberrant left subclavian artery(20.93%), 18 cases of left aortic arch/aberrant right subclavian artery (41.86%), 10 cases of double aortic arch (23.26%). Forty cases (93.02%) were combined with other cardiovascular or pulmonary malformations. Every malformation was revealed clearly and proved by echocardiogram. Of 3 cases (6.98%) without any other malformation, 2 cases were combined tracheal stenosis. A pulmonary artery sling was proved by surgery; the other 2 cases were double aortic arch. All the images of 43 cases could be reconstructed well. MPR and VR showed the origin, shape, and whole course of vascular rings directly; MinIP and VR could display the shape, width and development of trachea, revealed the relationship between vascular rings, trachea and esophagus. It was important to show and measure the component vascular of the ring. Attention should be paid to the whole course of trachea and esophagus, especially those segments which were close to the ring vascular. The tracheal stenosis as well as intra-cardio anatomy malformations should be measured on MPR images if existed. According to the segmental analysis method, comes the overall final diagnosis. A standard diagnostic program on vascular ring was proposed. MDCT axis images with various 3D post processing methods could reveal the compose of vascular rings and the relationship between vascular rings, trachea and esophagus.

BackgroundThe purpose of this study was to explore echocardiographic views and methods of aortic arch anomalies in infants, so as to improve the screening sensitivity and diagnostic accuracy.Methods140 children with abnormal aortic arch diagnosed by ultrasound in Children’s Hospital of Hebei Province from January 2014 to December 2019 were selected for retrospective analysis. All were confirmed by surgery or/and computerized tomography angiography. Series of views for aortic arch (the three-vessel and tracheal view, aortic arch short axis view, left aortic arch long axis view, aortic arch long axis continuous scan views) were performed in all cases on the basis of the routine views of echocardiography. The screening sensitivity and diagnostic coincidence rate of different echocardiographic views for aortic arch anomalies were analyzed.ResultsAmong the 140 infants, right aortic arch were 21 cases (6/21 were accompanied by mirror branch and 15/21 were with aberrant left subclavian artery). Left aortic arch with aberrant right subclavian artery were 2 cases, and double aortic arch with both arches open were 20 cases. Double aortic arch with left arch atresia were 2 cases, and atresia of the proximal aorta with aortic arch dysplasia was 1 case. Coarctation of the aorta were 67 cases, and interruption of aortic arch were 27 cases. All the patients were correctly diagnosed except that 2 infants with interruption of aortic arch were incorrectly diagnosed as coarctation of the aorta, and 1 infant with coarctation of the aorta was misdiagnosed as interruption of aortic arch by echocardiography. The screening sensitivities of four views and four-view combination for abnormal aortic arch were 99.3, 73.6, 87.1, 99.3, and 100%; the diagnostic coincidence rates were 85.7, 27.1,66.4, 95.0%, and 97.9% respectively. On the basis of traditional left aortic long axis view, other three views had their own advantages. The screening sensitivity and diagnostic coincidence rate of four-view combination were significantly improved.ConclusionsThe three-vessel trachea view is simple and feasible, which is suitable for screening abnormal aortic arch. The combination of four views conduces to improving screening sensitivity and diagnostic accuracy of aortic arch abnormalities.