Prenatal ultrasound diagnosis, pregnancy outcome, and reasons for misdiagnosis and missed diagnosis of fetal right aortic arch

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

Objective To investigate the clinical value of ultrasound diagnosis of fetal right aortic arch (RAA).Methods From March 5,2009 to September 2,2012,18 600 pregnant women in three hospitals in Foshan City,Guangdong Province,were divided as RAA high-risk group (n=5000) and low-risk group (n =13 600).During 18 to 42 gestational weeks,detailed ultrasound examinations of fetal aortic arch were done.All babies received echocardiography,CT or MRI within 15 months after birth to observe the cardiovascular condition,and aborted fetus was autopsied.RAA type,complicated structural abnormality and pregnancy outcomes between the two groups were compared with Chi-square test.Results Fifteen fetal RAA were diagnosed prenatally in the low-risk group,and the detection rate was 0.11％ (15/13 600),which was lower than that in the high-risk group (0.60％,30/5000)(x2=98.20,P＜0.01).The correct rate of prenatal ultrasound diagnosis of RAA was 96％ (43/45),while the other two cases were diagnosed as RAA with aberrant left subclavian artery and confirmed to be double aortic arch and RAA with mirror image after birth.In the high-risk group,the incidence of RAA with mirror image,cardiac and extra-cardiac malformation was 73％(22/30),67％(20/30) and 27％(8/30),respectively,which were higher than those in the low-risk group(0/15,1/15 and 0/15)(x2 =30.000,25.200 and 28.000,P＜0.01 respectively).The incidence of RAA with aberrant left subclavian artery and the 15-month survival rate of RAA infants in the high risk group was lower than those in the low-risk group [20％ (6/30) vs 12/15,40％ (12/30) vs 15/15] (x2=7.700 and 15.610,P＜0.05,respectively).Conclusions The incidence of fetal RAA is higher in the high-risk pregnant women than in the low-risk pregnant women,and babies often complicated with other malformations with poor prognosis. Key words: Ultrasonography, prenatal; Aorta, thoracic; Congenital abnormalities; Vascular malformations ; Pregnancy

Objective To explore the value of three-vessel and trachea(3VT) view plus aortic arch coronal section in ultrasonic diagnosis and classification of fetal right aortic arch(RAA). Methods Echocardiography data and follow-up results of 44 fetuses with RAA were retrospectively analyzed. Sonographic features on 3VT view and aortic arch coronal section were summarized. Results Among 44 fetuses with RAA, 27 cases(61.36%) were RAA with aberrant left subclavian artery(ALSA) and the left ductus arteriosus(LDA) connecting the ALSA and U-shaped vascular ring was formed; 17 cases(38.64%) were mirror right aortic arch(MRAA). Among 17 cases with MRAA, 3 cases were with LDA connecting the descending aorta(DAO) and U-shaped vascular ring was formed; 1 case was with LDA connecting the left innominate artery(LINA), 8 cases were with absent ductus arteriosus(ADA), 5 case were with right ductus arteriosus(RDA), no vascular ring was formed. Parts of MRAA were combined with other complex intracardiac abnormalities. RAA-ALSA-LDA were rarely combined with intracardiac abnormalities. Conclusions 3VT view is simple and intuitive for diagnosing RAA. Aortic arch coronal section has great clinical value in determining the concrete type of RAA. Key words: Echocardiography; Fetus; Aortic disease; Three-vessel and trachea view; Aortic arch coronal section

Objective To evaluate the clinical significance of prenatal ultrasonography in diagnosis of retroaortic left innominate vein(LINV). Methods Thirty fetus with retroaortic LINV were involved,including 17 cases of isolated retroaortic LINV and 13 cases of complicated retroaortic LINV. Three-vessel and trachea (3VT) view was focused in the routine second trimester ultrasound screening to observe whether LINV existing or not. And then the transducer was rotated to the fetal sagittal view to assess the relationship between LINV and aortic arch and the convergence of left subclavian vein and left internal jugular vein into the LINV. Results The characteristic feature of retroaortic LINV was the LINV converge into right superior vena cava (SVC) under the aortic arch,not above the aortic arch. The most important plane to detect the retroaortic LINV was the 3VT view,which revealed the abnormal vein lying to the left of pulmonary artery. The abnormal vein then could be traced and revealed its connection with the right SVC beneath the aortic arch on the transverse plane inferior to the 3VT view and on the fetal sagittal plane. Conclusions The whole course of retroaortic LINV can be revealed by ultrasound prenatally,which can not only account for the abnormal vein to the left of pulmonary artery on 3VT view,but also play an important role in surgery decision and future cardiac intervention treatment. Key words: Echocardiography; Fetus; Heart defects,congenital; Retroaortic left innominate vein

Objective To evaluate the role of combination of three-vessel views in ultrasound diagnosis of fetal aortic arch and pulmonary arterial branch anomalies. Methods The data of 66 cases of fetal aortic arch and pulmonary arterial branch anomalies were retrospectively analysed, including echocardiographic data, autopsy and operation records and postnatal follow-up results. Echocardiogaphic features and display frequencies on three vessels and trachea view(3VT), three vessels view(3VV) and three vessels and pulmonary arterial branches view(3VP) were summarized. Results There were 52 cases of aortic arch abnormalities, including 32 cases of right aortic arch with left ductus arteriosus, 4 cases of double aortic arch, 7 cases of aberrant right subclavian artery, 6 cases of coarctation of aorta and 3 cases of interruption of aortic arch. Fourteen cases were diagnosed pulmonary aterial branch abnormalities, including 10 cases of crossed pulmonary arteries, 2 cases of anomalous origin of left pulmonary artery from aortic arch and 2 cases of pulmonary artery sling. The display frequencies of fetal aortic arch and pulmonary arterial branch anomalies on 3VT, 3VV and 3VP were 80.3%, 19.7% and 39.4%. Conclusions The combination of three-vessel views is of great value in prenatal diagnosis of fetal aortic arch and pulmonary arterial branch anomalies. Key words: Ultrasonography, prenatal; Heart defects, congenital; Three-vessel view; Aortic arch; Pulmonary arterial branch

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.

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

Surgical repair of right aortic arch with aberrant left subclavian artery and left ligamentum arteriosum

To report our experience with fetal diagnosis of right aortic arch (RAA) variants based on the ductus arteriosus (DA) anatomy and brachiocephalic vessel branching pattern in relation to the trachea, and to establish whether the echocardiographic 'V-shaped' or 'U-shaped' appearance of the junction between the DA and aortic arch (AA) in the fetal upper mediastinal view is sufficiently accurate for assessment of fetal AA anatomy. This was a retrospective study of pregnancies with a prenatal diagnosis of fetal RAA that had postnatal confirmation of AA anatomy, referred to our tertiary center during 2011-2017. Prenatal and postnatal medical records, including echocardiographic and computed tomography (CT)/magnetic resonance imaging (MRI) scan reports, were reviewed, and cardiac and extracardiac abnormalities and the results of genetic testing were recorded. Of 55 consecutive pregnancies with a prenatal diagnosis of fetal RAA, six were lost to follow-up, one was terminated and three were excluded due to lack of postnatal confirmation of AA anatomy. Of the remaining 45 pregnancies, AA anatomy was assessed postnatally by CT in 39, by MRI in one and by direct examination at cardiac surgery in five. A U-shaped appearance was found in 37/45 (82.2%) patients, all of which had a complete vascular ring (CVR). Of these 37 patients, on postnatal confirmation, 21 (56.8%) had RAA with Kommerell's diverticulum, left posterior ductus arteriosus (LPDA) and aberrant left subclavian artery (ALSA) (RAA/LPDA/ALSA), 11 (29.7%) had a double AA (DAA), four (10.8%) had RAA with Kommerell's diverticulum, LPDA and mirror-image (MI) branching (RAA/LPDA/MI), and one (2.7%) had RAA with Kommerell's diverticulum, LPDA and aberrant left innominate artery (ALIA) (RAA/LPDA/ALIA). A V-shaped appearance was found in 3/45 (6.7%) patients, all of which had RAA with right DA not forming a CVR and MI branching. In the 5/45 (11.1%) fetuses with neither U- nor V-shaped appearance, RAA with left anterior DA arising from the left innominate artery and MI branching, not forming a CVR, was found. Twelve (26.7%) fetuses had a congenital heart defect (CHD). RAA forming a CVR (U-shaped appearance) was associated with a septal defect in 6/37 (16.2%) fetuses, while RAA not forming a CVR (V-shaped appearance or no U- or V-shaped appearance) was associated with major CHD in 6/8 (75.0%) fetuses. In fetuses with RAA, V-shaped appearance of the junction between the DA and AA indicates only that the transverse AA and DA run together on the same side of the thorax (trachea) while a U-shaped appearance is always a sign of a CVR. Among fetuses with a CVR, RAA/LPDA/MI is more frequent than described previously. Finally, RAA forming a CVR is not usually associated with complex CHD, as opposed to RAA not forming a CVR. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

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.

This study aimed to characterize the pathological types, diagnosis, chromosomal abnormalities, and postnatal clinical manifestations of right and double aortic arch malformations in fetuses. In this retrospective study, all fetuses diagnosed with right or double aortic arch anomalies for whom conventional two-dimensional echocardiography combined with spatio-temporal image correlation was performed at our tertiary referral center between December 2012 and December 2021 were included. In total, 234 fetuses with aortic arch abnormalities were identified. Forty-one cases lost to follow-up. One hundred ninety-three cases were included in this study. One hundred eighty-seven cases with right aortic arch. Six cases with double aortic arch. Most cases of right aortic arch with aberrant left subclavian artery (77/101, 76.2%) were isolated lesions, whereas most of those with mirror-image branching (45/75, 60%) were associated with intracardiac or extracardiac anomalies. Chromosomal abnormalities were screened prenatally in 113 fetuses with right aortic arch, among whom three with aberrant left subclavian artery (3/63, 4.8%) and eight with mirror-image branching (8/50, 16%) had chromosome anomalies (p < 0.05). Furthermore, three cases had microdeletion 22q11.2 and these were significantly associated with intracardiac malformations. Most cases of isolated right aortic arch do not present with clinical symptoms except isolated left subclavian artery and isolated left brachiocephalic trunk. In addition, the risk of chromosomal abnormalities in patients with isolated right aortic arch is very low. We recommend that pregnant women should be informed of the risks and benefits of undergoing invasive prenatal chromosomal detection.

Objective To improve the prenatal echocardiographic diagnostic accuracy for fetus with isolated mirror-image right aortic arch which combined with vascular ring by analyzing and accumulating its echocardiographic features. Methods Echocardiographic signs were analyzed retrospectively and fetal echocardiographic features were accumulated in 16 cases with prenatal diagnosis of isolated mirror-image right aortic arch with left-side ductus arteriosus which formed vascular ring between January 2014 and February 2016. All cases were confirmed by neonatal echocardiography. Results The fetal echocardiography characters: ① In 3-vessel and trachea view, fetal right aortic arch was demonstrated a U-shaped appearance of the great vessels, the right arm of the 'U’ represented the aortic arch and its left branch with ductal continuation. ② In 3-vessel and trachea view or upper axial mediastinal transverse view, left innominate artery passed straightly to the left of the trachea.Left innominate artery and right-side ductus arteriosus were overlapped and the distance of two vessels was very close. ③ In double arch view and longitudinal view for ductus, Left innominate artery did not connect to descending aorta or ductus arteriosus and did not involve in the formation of vascular ring. ④ Color Doppler played an important role in diagnosis of this disease. Power Doppler or high-definition imaging easily showed color overflow and wrongly displayed the crossed relationship of left innominate artery with descending aorta as the anatomical connection, and caused the misdiagnosis of this disease as double aortic arch. Conclusions Isolated mirror-image right aortic arch with vascular ring is not rare in the fetal period. Because ductus arteriosus is large and patent during the prenatal period, it is easily mistaken for the crossed relationship of left innominate artery with descending aorta as the anatomical connection and finally misdiagnoses this anomaly as double aortic arch. The keys to accurate diagnosis of the disease are clearly visualization of the innominate artery and its relationship with descending aorta and ductus arteriosus by scanning different views. Key words: Echocardiography; Fetal; Mirror-image right aortic arch; Vascular ring; Double aortic arches

Right aortic arch with aberrant left subclavian artery—prenatal diagnosis and evaluation of postnatal outcomes: Report of three cases

Purpose Congenital right aortic arch (RAA) and double aortic arch (DAA) were difficult to be diagnosed by traditional fetal echography. However, these two diseases have distinct clinical therapies and long-term outcomes which makes the differential diagnosis of great importance. While fetal screening by traditional fetal echography provides limited information about the branches of the aortic arch. This study aimed to discover and evaluate a novel combination of different echocardiography views in the diagnosis and differentiation of RAA and DAA. Methods From January 2014 to December 2022, a total of 414,686 pregnant women underwent routine ultrasound examinations of the fetus during the second trimester. The scan of the fetal heart included a fetal four-chamber view, The left ventricular outflow tract (LVOT) view, a right ventricular outflow tract (RVOT) view, a three-vessel (3 V) view, and three vessels and trachea (3VT) view. Then the cases diagnosed as RAA or DAA by initial ultrasound screening from two hospitals were divided into the RAA group and the DAA group. Then enter the prenatal diagnosis consultation. All the pregnant women were offered invasive prenatal diagnosis. Genetic tests were fully discussed and decided after genetic counseling. Further ultrasound examination by two more experienced sonographers, in addition to the fetal echocardiogram views, includes further multi-angle scanning of the aortic arch branches with color Doppler flow imaging (CDFI) or high definition flow imaging (HDFI) for further diagnosis, and the reasons for misdiagnosis were analyzed and summarized. Results A total of 332 cases were diagnosed with RAA or DAA by initial ultrasound, including RAA group 244 cases and DAA group 88 cases. In the RAA group, the mirror RAA (MRAA) could not be completely diagnosed by 3VT view alone in traditional echocardiography, with accuracy and sensitivity of 88.9% and 72.6%, respectively. In the DAA group, 36 cases were misdiagnosed only by 3VT view alone in traditional echocardiography, with the accuracy and specificity of 88.9% and 86.8%, respectively. However, the accuracy for MRAA or DAA could reach 100% when combined with 3VT and multi-angle scanning of the aortic arch branches. The abnormal detection rate of genetic tests was 10.5% (20/190), excluding the cases who refused the invasive prenatal diagnosis. Conclusion Combining 3VT and multi-angle scanning of the aortic arch branches With CDFI or HDFI could effectively distinguish RAA variants from DAA. The invasive prenatal diagnosis should be recommended for patients with RAA or DAA, and the accurate prenatal diagnosis was highly valuable in providing appropriate perinatal counseling and prognostic evaluation.