Ultrasound diagnosis of fetal right aortic arch in high-risk and low-risk pregnant women

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.

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 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

Background Isolated right aortic arch (RAA) is felt to be a rare finding, present in around 0.1%. The 3 vessel and tracheal view has been part of the fetal medicine departmental screening since 1998 and has now been incorporated into the national screening guidelines. The objective is to define the prenatal associations and postnatal outcomes of fetuses diagnosed with a RAA in utero. Methods Retrospective analysis of fetuses diagnosed with an isolated RAA diagnosed at the Harris Birthright Centre for Fetal Medicine between 2000 and 2014. Prenatal and postnatal findings were ascertained from clinical records. Diagnosis of RAA was made in the transverse three-vessel/tracheal view where the aortic arch was demonstrated passing in front of the trachea.(Figure 1) Prenatal data were combined with outcomes obtained from medical records and telephone interviews with patients. Results 100 cases of isolated right aortic arch were identified in fetal life at a median gestation of 21weeks (range:11–36). The nuchal translucency (NT) was elevated in 10/64 (16%) where the measurement was known and an extracardiac abnormality detected in 23/100 cases of whom 2 had a raised NT. Genetic abnormalities were confirmed in 13/58 (21%) tested cases comprising: 22q11.2 microdeletion (n = 5), trisomy 21 (n = 2), combined 22q11 microdeletion with mosaicism of 45XO (n = 1), unbalanced translocation (n = 1), balanced translocation (n = 1), duplication of chromosome 16p13 with a recessive disorder of lymphogenesis (n = 1) and other syndromes (n = 3). Of those with abnormal genetics 4/13 had no other abnormal fetal sonographic markers. An aberrant left subclavian artery (ALSCA) was identified in 39/98 (40%), the arterial duct was left sided in 67/75 (89%). In the postnatal period, 3 cases were diagnosed with a double aortic arch. Spontaneous intrauterine death occurred in 6 cases and termination of pregnancy in 9 cases. There were 80 live births and one neonatal death. Five children presented with symptoms of airway obstruction at a median age of 2.9 years (range 1–8). Pulsatile airway compression was identified in all and surgical division of the vascular ring was performed at median age: 2.9years (range: 1–8). Within the past two years, three asymptomatic infants (with RAA, ALSCA, left arterial duct) have been shown by bronchoscopy and cross-sectional imaging to have significant airways compression. Thus, we are currently considering whether all infants with RAA, ALSCA and left duct merit investigation irrespective of symptoms. Conclusions Significant genetic abnormalities were identified of which some had no other abnormal fetal sonographic findings. Many patients were discharged after their first postnatal review, but despite this 8 children have required surgical relief of a vascular ring as a result of pulsatile compression of the trachea. Lack of symptoms does not exclude significant airways compression and the true incidence of airway compromise may be underestimated.

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 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

To analyze the characteristics and clinical implications of right aortic arch (RAA) detected in fetal life. Retrospective study of all cases of RAA diagnosed prenatally in high-risk patients who underwent fetal echocardiography between 2000 and 2007. There were 48 RAA; 18 had vascular ring (Group 1), including 15 RAA with aberrant left subclavian artery and 3 double aortic arch, and 30 had not vascular ring (Group 2), all RAA with mirror-image branching. The prenatal diagnosis was confirmed in 94%. In Group 1 most fetuses had normal heart (89%), and none had 22q11 deletion. There were 16 live births and all infants but one are asymptomatic (mean follow-up of 31 months). In Group 2 almost all fetuses had congenital heart defects (CHDs) (97%), and five were chromosomally abnormal (17%), including four 22q11 deleted. The 1-year survival rate was 69%, which was significantly higher in Group 1 (89% vs 57%, p < 0.05). RAA can be accurately diagnosed by fetal echocardiography. The outlook for these patients largely depends on the presence of associated defects, mainly CHDs, and their severity. If isolated, aortic arch anomalies are asymptomatic vascular variants in most cases. This information is important to assist parental counseling in pregnancy.

Prenatal Diagnosis and Outcome of Right Aortic Arch without Significant Intracardiac Anomaly

Outcomes of Surgical Repair of Vascular Rings and Slings in Children: A Word for the Asymptomatic

Objective: Our objective was to evaluate the accuracy of the prenatal diagnosis and the relation between the type of right aortic arch (RAA) with other intra- or extracardiac (EC) and chromosomal anomalies. Methods: A retrospective, observational study was conducted between 2011–2020 in a Romanian tertiary center. All RAA cases, including double aortic arch (DAA), were extracted from the databases and studied thoroughly. Results: We detected 18 RAA cases: five (27.78%) type I (mirror image, “V” type), 11 (61.12%) type II (“U” type), and two (11.10%) DAA cases. Heart anomalies were associated in 38.89% (overall), 60% (type I), 36.37% (type II), and 0% (DAA) cases. Tetralogy of Fallot represented the most prevalent cardiac malformation (in 22.23% of cases). EC anomalies were present in 44.44% of fetuses (20% of type I, 54.55% of type II, and 50% of DAA cases). Genetic abnormalities were found in 41.17% of pregnancies, with 22q11.2 deletion in 23.53%. 55.55% of the cases had a good neonatal evolution and 44.45% of the pregnancies were terminated. An overall good outcome of pregnancy was noted in 40% of type I RAA, 63.64% of type II RAA, and 50% of DAA cases. All RAA cases examined in the first trimester were correctly diagnosed. Conclusions: RAA can be accurately diagnosed and classified by means of prenatal ultrasound since early pregnancy. A detailed anatomy scan and genetic testing, including 22q11 deletion, should be offered to all pregnancies when RAA is discovered. When isolated, RAA associates a good outcome, indifferently the anatomical type.

ObjectiveThis study aimed to report our experience in qualitative and quantitative evaluation of fetal complete vascular ring (CVR) using fetal cardiovascular magnetic resonance imaging (MRI) to improve prenatal diagnosis and make early postnatal management possible.MethodsA retrospective case-control study was performed on cases of CVR diagnosed using fetal cardiovascular MRI, and confirmed by postnatal imaging diagnosis. Associated abnormalities were recorded. The diameters of aortic arch isthmus (AoI) and ductus arteriosus (DA), and tracheal diameters in fetuses with tracheal compression were measured and compared with those of the control group.ResultsAll fetal CVR cases in this study included right aortic arch (RAA) with aberrant left subclavian artery (ALSA) and left DA (n = 93), double aortic arch (DAA) (n = 29), RAA with mirror-image branching and retroesophageal left ductus arteriosus (RLDA) (n = 8). Compared with the control group, the diameters of AoI in fetuses with DAA were decreased (p < 0.001), and the diameters of DA in fetuses with RAA with ALSA and left DA were increased (p < 0.001). The diameters of AoI and DA were positively correlated with gestational age (GA) in the normal control group (both p < 0.001); The diameters of AoI and DA were also positively correlated with GA in RAA with ALSA and left DA subgroup (both p < 0.001) and RAA with mirror-image branching and RLDA subgroup (AoI: p = 0.003; DA: p = 0.002); The diameters of DA were positively associated with GA in DAA subgroup (p < 0.001), however, there was no linear tendency between the diameters of AoI and GA in the DAA subgroup (p = 0.074). There were CVR fetuses with associated intracardiac malformation (n = 13), especially ventricular septal defect rather than complex heart disease, and extracardiac malformation (n = 14). Sixteen fetuses were shown the airway compression whose tracheal diameters were smaller than the normal (p < 0.001).ConclusionsThe altered diameters of AoI and DA can be detected and measured in CVR fetuses using fetal cardiovascular MRI. Fetal CVR can occur alone or with intracardiac and extracardiac malformation. Fetal CVR can be associated with prenatal airway compression.

This study aimed to elucidate the diagnostic process, the associated anomalies and the perinatal outcomes of right aortic arch (RAA) in a group of low-risk patients. The obstetric imaging database and digital patient files were reviewed between January 2015 and June 2016. There were 12 RAA cases detected prenatally. Seven foetuses had an aberrant left subclavian artery and one foetus had mirror image branching. The prevalence of RAA was 1.8 in 1000. Invasive prenatal diagnosis was offered to patients and seven tests were performed. There was one associated cardiac anomaly (8.3%) and one extra-cardiac anomaly (8.3%) in the same foetus which cordocentesis revealed trisomy 21. There were also two 22q11.2 microdeletion cases with isolated RAA with aberrant left subclavian arteries. All patients have given live births except one patient has chosen a termination of pregnancy for 22q11.2 microdeletion. The median follow-up time of the newborns was 21 months. None of the babies required surgery for RAA during follow-up. All the babies are alive, except for the one with trisomy 21, who dead at 5 months due to the surgical complications of an oesophageal atresia operation. Patients with an RAA foetus should be offered for foetal karyotyping and analysis for 22q11.2 microdeletion. When isolated, RAA has usually a good prognosis and rarely requires cardiac surgery.Impact StatementWhat is already known on this subject? Prenatal diagnosis of RAA should prompt a detailed cardiac and extra-cardiac ultrasound examination. When isolated, RAA is associated with 22q11 deletion and aneuploidies in 4.6% and 5.1%, of cases respectively.What the results of this study add? Our study showed that 28.5% of isolated RAA cases are associated with 22q11.2 microdeletion. Cardiac surgery is rarely required when RAA is an isolated anomaly.What the implications are of these findings for clinical practice and/or further research? Invasive prenatal testing for karyotypes and 22q11.2 microdeletion should be offered to patients with RAA, even in the case of an isolated one. Further larger studies are needed to confirm this finding.

Objectives. In the present research we proposed to evaluate the cases diagnosed in the first trimester of pregnancy by ultrasound with RAA, knowing the fact that although, in most cases the disease is isolated and asymptomatic, in some cases the presence of RAA can be associated with other fetal structural abnormalities that must be detected and monitored during pregnancy. We established correlations between the postnatal or anatomopathological examination (in cases ended by therapeutic abortion) and the presence of RAA detected in the first trimester. Material and method. We conducted a retrospective analytical study that investigated the role of the RAA early detection (isolated or associated with other cardiac abnormalities) for a correct pregnancy monitoring and postpartum management. Between 2012 and 2018, patients admitted in the first Obstetrics and Gynecology Clinic-the Prenatal Diagnostic Unit-of the Emergency County Hospital from Craiova, were evaluated in the first trimester of pregnancy for genetic abnormalities and early morphology. The study material was represented by the patient’s medical records (observation sheets, surgical protocol records, anatomopathological diagnostic records). The obtained information was stored in Microsoft Excel files and statistically processed. Results. During the study period, 14 cases with right aortic arch were diagnosed in the first and second trimester of pregnancy. 4 cases were detected in the first trimester: 2 cases (50%) presented left ductus arteriosus (DA)-RAA type 2 (“U” sign) and 2 cases (50%) presented right DA-RAA type 1 (mirror image-“V” sign). RAA type 1 associated Tetralogy of Fallot in one case (25%) and in another one case (25%) the anomaly was isolated. RAA type 2 associated atrio-ventricular septal defect (AVSD) in one case (25%) and in another one case (25%) the anomaly was isolated. There were no fetal extracardiac structural abnormalities associated with the RAA diagnosis in the first trimester. Conclusions. Over a seven years study period (2012-2018), 14 cases with RAA in the first and second trimester of pregnancy were detected. In the low-risk pregnancies group, the first trimester incidence of the RAA was 0.11% and the association of congenital heart abnormalities was 50%.

To evaluate the prenatal distribution, associated conditions and outcome of the different types of right aortic arch (RAA) detected in fetal life. This was a retrospective review of all cases of RAA detected prenatally between 1998 and 2005 in two tertiary referral centers. In the study period 71 cases of RAA were detected; 26 (37%) had RAA with aberrant left subclavian artery, 23 (32%) had RAA with mirror-image branching, 20 (28%) had RAA of unknown type and two (3%) had double aortic arch. While 20/26 cases with RAA and aberrant left subclavian artery were isolated findings, all 23 cases with RAA and mirror-image branching were associated with cardiac defects, namely tetralogy of Fallot (43%) or pulmonary atresia with ventricular septal defect (22%). Of the 20 cases with RAA, 19 of unknown type were associated with heterotaxy syndromes and had additional cardiac malformations and ambiguities of the situs. The two cases with DAA were isolated findings. Seven cases in our series (10%) had a microdeletion 22q11 and these were significantly associated with extracardiac malformations. The outcome in our series depended solely on the associated cardiac and extracardiac malformations, with the exception of one infant with isolated DAA, in whom a surgical correction was warranted. RAA detected in fetal life is associated frequently with other cardiac/non-cardiac malformations, heterotaxy syndromes and microdeletions 22q11. The associated conditions vary depending on the branching type of the brachiocephalic vessels and the presence of extracardiac malformations.

Right aortic arch (RAA) is a rare anomaly with an incidence of 0.1 % in the adult population and low-risk fetuses. Our aim in this study was to evaluate associated anomalies and conditions according to subtypes. This was a retrospective study examining consecutive pregnancies diagnosed with RAA in our hospital between 2018 and 2022. Fetuses with RAA were divided into three groups, RAA with right-sided ductus arteriosus (RAA-RDA), RAA with left-sided ductus arteriosus (RAA-LDA), and RAA with a double aortic arch (RAA-DAA). A total of 81 fetuses were diagnosed as having RAA during the study period. The rate of cardiac anomalies (82.8 %) in the RAA-RDA group was higher than in the RAA-LDA (17.6 %) and RAA-DAA (22.2 %) groups (p<0.001). No statistically significant difference was found between the groups in terms of maternal age, diagnosis week, pregnancy outcome, extracardiac anomalies, and genetic anomalies. Three (8 %) of 36 fetuses with isolated RAA who resulted in live birth developed symptoms related to the vascular ring, and one (2.7 %) newborn with RAA-DAA underwent surgery. The incidence of cardiac anomalies is high in fetuses with RAA-RDA. Ultrasound examinations should be performed for cardiac anomalies and additional structural anomalies. Vascular ring formation is a rare but important complication due to compression risk to the trachea and esophagus.