The single umbilical artery in a high‐risk patient population: what should be offered?

OBJECTIVE: To determine whether fetal echocardiography is warranted in cases of single umbilical artery in a population at risk for aneuploidy. METHODS: All cases of fetal single umbilical artery identified over a 2-year period were reviewed for other sonographically detected abnormalities, fetal echocardiographic results, and karyotype. RESULTS: Sixty-five cases of single umbilical artery were diagnosed on the basis of initial sonograms. Five were subsequently shown to have 3-vessel cords (8% false-positive diagnosis; incidence, 1.2%). Excluding 3 from twin gestations, 57 cases formed the study population. Thirty-one fetuses (54%) were initially thought to have isolated single umbilical arteries, and 26 (46%) had nonisolated single umbilical arteries. Fetal echocardiography was performed in 29 cases (51%), 24 (83%) with normal findings and 5 (17%) with abnormal findings. Four (50%) of 8 nonisolated single umbilical arteries had abnormal echocardiographic findings versus 1 (5%) of 21 apparently isolated single umbilical arteries (P < .05; odds ratio, 20). Karyotypes in 36 cases (63%) showed 25 (69%) euploid and 11 (31%) aneuploid fetuses. An apparently isolated single umbilical artery was never associated with an abnormal karyotype. Eleven (50%) of 22 fetuses with nonisolated single umbilical arteries had aneuploidy (P < .005). The side of the missing umbilical artery did not correlate with other sonographically detected abnormalities, abnormal fetal echocardiographic findings, or aneuploidy. CONCLUSIONS: The rate of cardiac malformations seen with apparently isolated single umbilical arteries is significant, and fetal echocardiography should be performed.     

Acute appendicitis and diagnostic value of sonography: A prospective study of 77 surgically proven cases

We present the results of a prospective study on 122 patients referred for suspected acute appendicitis. In total, 77 patients had surgically proven appendicitis. Of these 77 patients, sonography showed typical signs of appendicitis and/or peri-appendicular abscess in 57 cases (true positives); in the remaining 20 patients neither the inflamed appendix nor any related abnormal finding could be detected pre-operatively (false negatives). Forty-five patients were subsequently shown to have other disorders (related to the urinary or digestive tract, or to the female reproductive system); the final diagnoses were based on surgical findings in 16 patients, and on a combination of clinical, imaging and laboratory findings in the remaining 29 patients. In all these patients, no sonographic evidence of appendicitis was detected (true negatives), whereas in 33 cases the US exam was able to detect abnormal findings related to other conditions, thus suggesting a correct diagnosis. In the authors' experience, sonography has a good accuracy in diagnosing acute appendicitis. The sensitivity (75%) and specificity (100%) values were similar among the different examiners and in overall agreement with the literature data.     

Sonographic findings of trisomy 18 in the second trimester of pregnancy

OBJECTIVE: The purpose of this study was to examine the sonographic findings in fetuses with trisomy 18 in the second trimester of pregnancy. METHODS: A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 18. The prenatal sonographic studies in fetuses at 15 to 21 weeks' gestation, done before invasive testing for the karyotype, were reviewed for anatomic and biometric findings. We defined abnormal fetal biometric findings as a biometric measurement (biparietal diameter, abdominal circumference, or femur length) below the fifth percentile in the second trimester. RESULTS: Of 98 fetuses with trisomy 18, 95 (97%) were detected sonographically; an anomaly was found in 92 (94%). A biometric measurement below the fifth percentile was noted in 50 (51%). Cardiac (63%) and central nervous system (34%) anomalies were most frequently detected. Although choroid plexus cysts were commonly seen, no fetuses with trisomy 18 and isolated choroid plexus cysts were found. CONCLUSIONS: Targeted sonography identified abnormal fetal anatomy or abnormal biometric findings in 97% of fetuses with trisomy 18 in the second trimester. A biometric measurement below the fifth percentile was noted in half of the cases in the second trimester.     

Incidental extracardiac findings at cardiac CT angiography: comparison of prevalence and clinical significance between precontrast low-dose whole thoracic scan and postcontrast retrospective ECG-gated cardiac scan

Purpose To compare the prevalence and clinical significance of incidental extracardiac findings at cardiac CT angiography (CCTA) with precontrast low-dose whole thoracic scan (LDCT) and ECG-gated CCTA. Materials and Methods We reviewed 254 patients who underwent CCTA. All participants first underwent LDCT to determine a range for CCTA and to screen unrecognized extracardiac lesions. CCTA was reconstructed with a small field of view of the heart. Clinically significant extracardiac findings were defined as abnormalities requiring further diagnostic work up, therapeutic intervention, or follow-up. Results On LDCT, 285 extracardiac findings were detected in 62.6% patients; on CCTA, 18 findings in 7% patients. Among these, 66 findings in 20.4% patients were considered clinically significant on LDCT, and 4 findings in 1.6% patients on CCTA. Conclusion Clinically significant extracardiac findings are common in patients undergoing CCTA with a considerable number of extracardiac findings being detected only on LDCT. We advise performing whole thorax LDCT prior to CCTA.     

Incidental extracardiac findings at cardiac CT angiography: comparison of prevalence and clinical significance between precontrast low-dose whole thoracic scan and postcontrast retrospective ECG-gated cardiac scan

Purpose To compare the prevalence and clinical significance of incidental extracardiac findings at cardiac CT angiography (CCTA) with precontrast low-dose whole thoracic scan (LDCT) and ECG-gated CCTA. Materials and Methods We reviewed 254 patients who underwent CCTA. All participants first underwent LDCT to determine a range for CCTA and to screen unrecognized extracardiac lesions. CCTA was reconstructed with a small field of view of the heart. Clinically significant extracardiac findings were defined as abnormalities requiring further diagnostic work up, therapeutic intervention, or follow-up. Results On LDCT, 285 extracardiac findings were detected in 62.6% patients; on CCTA, 18 findings in 7% patients. Among these, 66 findings in 20.4% patients were considered clinically significant on LDCT, and 4 findings in 1.6% patients on CCTA. Conclusion Clinically significant extracardiac findings are common in patients undergoing CCTA with a considerable number of extracardiac findings being detected only on LDCT. We advise performing whole thorax LDCT prior to CCTA.     

Venous ultrasound testing for suspected thrombosis: incidence of significant non-thrombotic findings

Duplex ultrasound (US) is used to "rule out" deep venous thrombosis (DVT), but can also diagnose other causes of leg pain or swelling in Emergency Department (ED) patients. Recent literature suggests that US imaging is unnecessary among patients with low or moderate clinical probability of DVT with a normal D-dimer. We attempted to determine the incidence of clinically important incidental findings detected using venous US imaging in patients with suspected lower extremity DVT. We conducted a retrospective chart review of all ultrasounds performed by the non-invasive vascular laboratory on ED patients > 18 years old. Results were classified: normal, DVT, or incidental finding. The latter were classified as clinically significant major findings if the diagnosis led to immediate and specific treatment to prevent morbidity, or clinically significant minor findings. A total of 484 US studies were reviewed; 179 were excluded (arterial studies, penetrating trauma, upper extremity US). Findings among 305 studies were: 238 (78%) normal, 28 (9%) DVT, and 39 (12%) incidental findings. Among 39 incidental findings, 10 were clinically significant major findings and 29 clinically significant minor findings. Clinically significant major findings included: pseudoaneurysm, arterial occlusive disease, vascular graft complication, compartment syndrome, and tumor. Among 38 abnormal US studies that required immediate treatment, DVT comprised 74% (95% confidence interval 59%-85%) and important major incidental findings 26% (95% confidence interval 14%-41%). Among ED patients who underwent US to evaluate leg pain and swelling, 26% of positive studies showed clinically important findings other than DVT. Further research is needed to determine if D-dimer plus a clinical probability tool will include or exclude the patients with clinically significant major findings.     

Gallbladder perforation: Comparison of US findings with CT

We compared the ultrasound (US) findings of gallbladder (GB) perforation with computed tomography (CT) in 13 patients with GB perforation confirmed at surgery. The common findings of GB perforation were pericholecystic fluid collection and layering of GB wall on US, pericholecystic fluid collection, streaky omentum or mesentery, and GB wall defect on CT. Pericholecystic fluid collection, layering of GB wall, and cholelithiasis were similarly detected on US or CT. GB wall defect and/or bulging of the GB wall suggested a site of perforation was revealed in five patients (38.5%) on US and nine (69.2%) on CT. CT further disclosed the findings of streaky omentum or mesentery (84.6%). CT was superior to US for diagnosis of GB perforation.     

Ectopic pregnancy: transvaginal sonographic findings of 152 cases.

In a retrospective study performed on 152 cases of verified ectopic pregnancy, the features at transvaginal sonography were evaluated. A total of 146 (96%) of the patients had at least one abnormal sonographic feature and pelvic/cul-de-sac fluid was the most common finding, detected in all of the 146 patients. Pelvic/cul-de-sac fluid was particulate in 103 patients and simple in 43. Pelvic/cul-de-sac fluid together with extrauterine findings were found to be present in 93.8% (137/146) of the patients, suggesting the fact that if pelvic/cul-de-sac fluid was detected, every effort should be made to image the tube. The extrauterine transvaginal sonographic features included 102 (63.0%) patients with a mass, 60 (41.1%) with a gestational sac (with or without yolk sac or embryo), and eight (5.3%) with a living embryo. Comparison of the sonographic findings according to the status of the ectopic pregnancy revealed that particulate fluid (98.9%), and an extra-uterine mass (88.2%) were the features that aided in the diagnosis of ruptured and aborted ectopic pregnancies, whereas an extrauterine gestational sac (72.9%), and a living embryo (11.9%) were associated with intact ectopic pregnancies. Our findings support the practice of using transvaginal sonography, and ss-human chorionic gonadotropin measurements in the diagnosis and prediction of the status of ectopic pregnancy.     

The Tail and the String Sign: New Sonographic Features of Subcutaneous Melanoma Metastasis

No highly specific sonographic imaging findings to evaluate melanoma spread along the lymphatic vessels have ever been described. Between January 2009 and December 2012, a consecutive group of 531 melanoma patients at their initial stage or during follow-up for nodal or extra-nodal superficial metastasis were evaluated retrospectively to assess the presence of two sonographic findings demonstrating superficial lymphatic metastasis: a “tail” sign (a thin hypoechoic prolongation from one or both poles of a superficial metastasis) and a “string” sign (multiple in-transit lesions connected to each other in a rosary image). The total number of superficial metastatic lesions was 222. The tail sign was seen in 13 of the 222 lesions (5.9%). The string sign was detected in four patients (4.5%). These signs showed a low sensitivity with a very high specificity (100%). Tail and string signs may represent an additional finding of high specificity to be employed in the differential diagnosis of melanoma patients.     

Importance of evaluating organ parenchyma during screening abdominal ultrasonography after blunt trauma.

OBJECTIVE: To determine the benefit of screening ultrasonography for parenchymal abnormalities as well as free fluid during screening abdominal ultrasonography in patients with blunt trauma. METHODS: A total of 2693 patients with blunt trauma who were triaged to a level 1 trauma center underwent screening abdominal ultrasonography in the resuscitation suite. Examinations were performed by experienced sonographers and included a screen for free intraperitoneal fluid and evaluation of the abdominal organ parenchyma and heart for traumatic injury. Screening ultrasonographic findings were reviewed and compared with findings from autopsy, laparotomy, diagnostic peritoneal lavage, computed tomography, repeated ultrasonography, cystography, and clinical outcome. Imaging studies of all patients with confirmed or suspected injuries were reviewed to identify those in whom parenchymal findings aided diagnosis. RESULTS: One hundred seventy-two patients were found to have evidence of abdominal injury due to blunt trauma on the basis of clinical data, imaging, laparotomy, or autopsy. Forty-four of these patients had no sonographic evidence of hemoperitoneum at the time of initial ultrasonography. Screening ultrasonographic findings were positive for injury in 19 of 44 patients on the basis of parenchymal findings or small retroperitoneal collections of fluid thought to be indicative of trauma. In the remaining 25 patients, screening ultrasonography showed no abnormalities, and injuries were detected by repeated ultrasonography, subsequent computed tomography, or diagnostic peritoneal lavage performed for suspected occult injury on the basis of clinical parameters. In addition, 47 of 126 injured patients with sonographically detected free fluid had parenchymal findings that helped localize injury. Sixteen of those patients were taken to the operating room on the basis of clinical and sonographic findings without undergoing computed tomography. CONCLUSIONS: The inability to show injuries with no hemoperitoneum or with delayed hemoperitoneum has been shown to be a limitation of ultrasonography in patients with blunt trauma. In our series, 26% of all patients with documented injuries had no free fluid visible on screening ultrasonography Attention to findings other than free fluid allowed detection in 43% of injured patients without sonographic evidence of hemoperitoneum.     

Serial sonograms to detect pancreatitis in children receiving L-asparaginase

The clinical, laboratory, and ultrasonographic findings in children receiving L-asparaginase therapy were retrospectively reviewed and correlated to determine the diagnostic reliability and clinical usefulness of serial pancreatic sonograms in detecting L-asparaginase-induced pancreatitis. A total of 217 sonograms were obtained in 92 patients. Six of the 92 (6.5%) had L-asparaginase-induced pancreatitis. The diagnosis of pancreatitis was based solely on clinical symptoms in three patients, on clinical and laboratory findings in two, and on sonographic and laboratory findings in one. No confirmed cases of pancreatitis were detected solely by ultrasonography before clinical or laboratory evidence was obtained. Sonograms were useful only in confirming clinical and/or laboratory evidence of pancreatitis, but were of no value in making the early or preclinical diagnosis of drug-induced pancreatitis. We have discontinued the practice of obtaining routine serial pancreatic sonograms in children receiving L-asparaginase at our institution.     

Benign papillary lesions of the breast: sonographic-pathologic correlation.

We reviewed the sonographic findings of 42 benign papillary lesions of the breast and correlated them with pathologic findings. Sonography detected 95% of papillomas (22 intraluminal masses, four extraductal masses, nine purely solid masses, and five mixed type masses). The sonographic margins of the mass were well defined in 20 lesions and poorly defined in 14 lesions. Poorly defined margins on sonography were frequent in papillomas with pathologic pseudoinvasion and in juvenile papillomatosis. Most benign papillary lesions of the breast have the sonographic findings suggestive of intraductal origin. The sonographic findings of papillary lesions correlated well with pathologic findings.     

PillCam colon capsule endoscopy compared with colonoscopy for colorectal tumor diagnosis: a prospective pilot study

BACKGROUND AND AIMS: Colonoscopy is regarded as the gold standard for colorectal cancer (CRC) screening. PillCam capsule endoscopy could be an alternative approach for screening large populations. We report a pilot evaluation in humans of the safety, feasibility, and performance of colon capsule endoscopy compared with colonoscopy. PATIENTS AND METHODS: Patients included in this single-center comparative study had presented for screening colonoscopy or there was suspicion of polyps or CRC. The capsule was ingested in the morning. After excretion, colonoscopy was performed. Significant findings were defined either as polyps > 6 mm, or three or more polyps of any size. Colonoscopy and colon capsule endoscopy (CCE) review were performed by independent physicians. RESULTS: 41 patients (26 women), mean age 56 years (range 26 - 75) were included, and all had complete colonoscopies. Four patients were excluded due to technical problems and one could not swallow the capsule; thus, 36 patients were considered in the analysis. In six the capsule had not been expelled at 10 hours and was retrieved endoscopically. CCE identified 19 of the 25 patients (76 %) with positive findings and 10 of the 13 (77 %) with significant lesions detected by colonoscopy. CCE detected seven lesions not seen at colonoscopy and two tumors were detected by both examinations. Overall sensitivity of CCE to detect significant lesions was 77 %, specificity was 70 %, positive predictive value was 59 %, and negative predictive value was 84 %. No adverse events occurred. CONCLUSION: CCE showed promising accuracy compared with colonoscopy. This new noninvasive technique deserves further evaluation as a potential CRC screening tool.     

High-Resolution Ultrasonography for the Diagnosis of Brachial Plexus Root Lesions

The aim of this study was to investigate the feasibility of using high-resolution ultrasonography in the diagnosis of brachial plexus (BP) root lesions. A prospective study of ultrasonographic evaluation of BP nerve roots was performed in 37 patients with BP root lesions (29 with root injuries, 8 with tumors). The pre-operative ultrasonographic findings were compared with the surgical and pathohistological findings. All C5–7 roots were detected by ultrasonography in all patients, whereas 92% (68/74) of C8 and 51% (38/74) of T1 nerve roots were visualized. Among 29 patients with BP root avulsion, partial injuries or totally interrupted BP roots were detected in all patients. Cystic masses and neuromas were detected in 16 and 23 patients, respectively. In 8 patients with BP root tumors, 8 hypo-echoic masses were detected inside or partly outside of intervertebral foramina connecting to nerve roots. Surgical exploration revealed that there were 57 BP root avulsions in 29 patients. However, 2 T1 nerve root avulsions had been missed by pre-operative ultrasonography. Pathohistology revealed that all 8 BP root tumors pre-operatively diagnosed by ultrasonography were schwannomas. High-resolution ultrasonography can provide a convenient and accurate imaging modality for quick diagnosis and location of BP root lesions.     

The value of portable ultrasound for evaluation of cardiomegaly patients presenting at the emergency department

OBJECTIVES: The purpose of this study was to evaluate the value of a hand-carried portable ultrasound device in the emergency department for patients with cardiomegaly and evaluate its impact on diagnosis and treatment. We compared the results of the portable ultrasound with the results of physical examination and with standard echocardiograph (SE) in the cardiomegaly patients in emergency department. BACKGROUND: Recently, small portable ultrasound devices have been introduced, and they need more extensive study to evaluate their application. METHODS: We used the OptiGo (Agilent Technologies, Andover, MA) portable device to evaluate emergency patients, and compared it with two SE devices available for this study, the Hewlett Packard (Sono 5500; Andover, MA) or the Vingmed (System V; Horten, Norway). Each of 100 patients was studied by physical examination first then examined with the portable ultrasound and standard echocardiography. The yields from physical examination and portable echocardiography were compared and results of the standard and portable were also compared. RESULTS: There were a total of 243 cardiovascular findings detected by the standard echocardiographic examination in the 100 patients studied. Cardiac examination failed to detect 40% of the overall findings but the portable device missed only 17% of all findings. The portable device evaluated 201 conditions correctly (83%) and missed relevant clinical findings in 37 (17%) as compared to standard echocardiography, but in only 12 (5%) were these findings of major importance As an overall measure of diagnostic value, the portable device would have added to clinical judgment, thus boosting diagnostic accuracy from 62% to 83%. CONCLUSIONS: Portable ultrasound technology can provide rapid, readily available and important clinical information for emergency physicians in the management of emergency patients with cardiomegaly.     

Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics.

OBJECTIVES: The purpose of this study was to determine factors that influence the detection rate of sonographic markers of fetal aneuploidy (SMFA). METHODS: We reviewed the sonographic images of 160 consecutive second-trimester trisomic fetuses for the presence of SMFA, either structural anomalies or sonographic soft markers. RESULTS: One hundred forty-nine (93.1%) records were complete and analyzed; 78 cases (52.3%) were identified with 1 or more SMFA. Sonographic markers of fetal aneuploidy were detected in 42.7%, 75.0%, and 90.9% of trisomies 21, 18, and 13, respectively (P<.005). The detection rate of SMFA had a positive linear correlation with gestational age (adjusted R(2)=0.64; P<.002). Sonographic markers of fetal aneuploidy were detected in 43.7% of fetuses of less than 18.0 weeks' gestation and 64.5% of fetuses of 18.0 weeks' gestation or greater (likelihood ratio=6.4; P<.01). Sonographic markers of fetal aneuploidy were detected in 23.5% of patients with suboptimal image quality versus 58.3% of the others (likelihood ratio=7.5; P<.05). The rate of structural malformation was similar between the male and female fetuses, whereas that of soft markers was 49.4% in male and 30.0% in female fetuses (odds ratio=2.3; range, 1.2-4.5; P<.02). Factor analysis showed that some soft markers and some structural anomalies tended to appear together. CONCLUSIONS: The type of fetal trisomy, gestational age, sex, and quality of images influence the detection rate of SMFA. The highest detection rate for SMFA in the second trimester is at or above 18 weeks' gestational age. Certain markers are detected in clusters. These findings may explain, in part, the variability in reported rates of detection of SMFA among trisomic fetuses. These findings need to be prospectively tested in the general population of pregnancies for applicability to sonographic risk calculations for fetal trisomies.     

超声在声门区肿块中的诊断价值

目的探讨超声在声门区肿块诊断中的临床应用价值。方法对136例声嘶患者分别进行超声和CT检查，并与病理结果或喉镜结果进行对照分析。结果136例声门区肿块中，超声检出肿块126例，CT检出肿块119例，超声对声门区肿块的检出率高于CT87．5Voo，P=0．039）。结论超声对声门区肿块的检出能力优于CT，在声门区良恶性病变的诊断中具有重要的价值。     

Computed Tomography Scanning and Delirium in Elder Patients

Objective: 1 ) To examine the ordering of head CT scans in elder patients with delirium and cognitive impairment; and 2) to report CT scan findings associated with these conditions.
Methods : This was a 2-part study. Part 1 was a prospective, observational study of 560 adults >70 years of age evaluated at 3 separate EDs using a 200-hour stratified sampling process at each ED. During Part 1, the frequencies of specific findings (i.e., delirium, impaired consciousness, and impaired cognition) and CT scan rates for these groups were determined. Part 2 was a retrospective analysis of CT scan reports and medical records ( n = 279) for patients >70 years of age in the prospective sample ( n = 79) and from a sample ( n = 200) of CT scans obtained at a fourth ED. Part 2 examined clinical findings detected in the ED to determine those factors that were associated with acute findings on CT scan.
Results : Part 1: There were 333 (59.4%) patients prospectively classified as having impaired cognition, impaired consciousness, or delirium; 79 (23.7%) of these patients had a head CT scan. Of these 3 groups, delirious patients were more frequently scanned (p < 0.001). Part 2: Of 279 CT scans, 42 (15.0%) were positive for an acute condition (hemorrhage, hematoma, space-occupying lesion, infarct). Of 42 positive scans, 40 (95.1%) were found in the 102 (36.6%) patients with either impaired consciousness or a new focal neurologic finding detected in the ED.
Conclusions : Considerable variability in ED CT scan ordering exists for elder patients with neurologic findings. Impaired consciousness and/or new focal neurologic signs are associated with acute findings on CT scan in elder patients. Acute CT abnormalities are uncommon in elder ED patients with other neurologic findings. Additional prospective evaluation is warranted prior to guideline development for CT scans in this patient population.     

Extra cardiac findings by 64-multidetector computed tomography in patients with symptomatic atrial fibrillation prior to pulmonal vein isolation

The aim of this study was to investigate the prevalence of extracardiac findings diagnosed by 64-multidetector computed tomography (MDCT) examinations prior to circumferential pulmonary vein (PV) ablation of atrial fibrillation (AF). A total of 158 patients (median age, 60.5 years; male 68%) underwent 64-MDCT of the chest and upper abdomen to characterize left atrial and PV anatomy prior to AF ablation. MDCT images were evaluated by a thoracic radiologist and a cardiologist. For additional scan interpretation, bone, lung, and soft tissue window settings were used. CT scans with extra-cardiac abnormalities categorized for the anatomic distribution and divided into two groups: Group 1—exhibiting clinically significant or potentially significant findings, and Group 2—patients with clinically non-significant findings. Extracardiac findings (n = 198) were observed in 113/158 (72%) patients. At least one significant finding was noted in 49/158 patients (31%). Group 1 abnormalities, such as malignancies or pneumonias, were found in 85/198 findings (43%). Group 2 findings, for example mild degenerative spine disease or pleural thickening, were observed in 113/198 findings (72%). 74/198 Extracardiac findings were located in the lung (37%), 35/198 in the mediastinum (18%), 8/198 into the liver (4%) and 81/198 were in other organs (41). There is an appreciable prevalence of prior undiagnosed extracardiac findings detected in patients with AF prior to PV-Isolation by MDCT. Clinically significant or potentially significant findings can be expected in ~40% of patients who undergo cardiac MDCT. Interdisciplinary trained personnel is required to identify and interpret both cardiac and extra cardiac findings.     

Right aortic arch detected in fetal life.

OBJECTIVE: To evaluate the prenatal distribution, associated conditions and outcome of the different types of right aortic arch (RAA) detected in fetal life. METHODS: This was a retrospective review of all cases of RAA detected prenatally between 1998 and 2005 in two tertiary referral centers. RESULTS: 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. CONCLUSIONS: 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.