Background Fetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management. Methods The obstetric ultrasound imaging databases of seven tertiary referral centers were reviewed retrospectively to identify fetuses with a prenatal diagnosis of DAA between January 2013 and December 2018. Ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes were evaluated. Results A total of 36 cases out of 40 prenatally diagnosed DAA fetuses were confirmed by postnatal diagnosis (fetal autopsy, CTA, and surgery). In this cohort of 36 confirmed cases, 24 (67%) were isolated anomalies, while 12 (33%) were associated with intracardiac or extracardiac anomalies, and 2 (6%) had a 22q11.2 chromosome deletion. Among nine cases of pregnancy termination with a fetal autopsy, 7 had other abnormalities. Among the remaining 27 live births, 16 (59%) were asymptomatic and 11 (41%) received surgical treatment due to tracheal or esophageal compression symptoms, all with satisfactory outcomes. Prenatal echocardiography showed that DAA was mainly characterized by a bifurcation of the ascending aorta into the right and left aortic arch and the formation of a complete O-shaped vascular ring around the trachea on the three-vessel tracheal view. A variant in the aortic arch branching pattern was found for the first time. The airway obstruction, branching pattern, and atretic arch of DAA were clearly shown by postnatal CTA. Conclusions Fetal DAA has unique features on prenatal echocardiography and postnatal CTA, and systematic prenatal examination and timely postnatal CTA evaluation are required. A certain proportion of intracardiac and extracardiac abnormalities are associated with DAA, but the probability of chromosome abnormalities is low, especially for isolated DAA.The clinical outcomes of isolated DAA are favorable, even if surgery is performed due to symptoms. Determining whether other malformations or chromosomal anomalies exist is crucial for prognosis evaluation and prenatal counseling.
Background: The purpose of this research is to summarize the prenatal ultrasound characteristics of congenital duodenal obstruction (CDO), especially in the diagnosis of duodenal diaphragm and annular pancreas. At present, few researchers have summarized the specific ultrasound features of duodenal diaphragm and annular pancreas. Methods: In this study, a retrospective analysis of 40 patients diagnosed with CDO between January 2016 and December 2019 was carried out. Data on the diagnosis, ultrasound images and outcomes of the patients were gathered, and the features of the patients were analyzed. Results: The results showed that there were 17 patients (42.5%) of congenital duodenal diaphragm, all with a 'rat tail' sign on the ultrasound images. Moreover, there were 4 patients (10.0%) of CDO caused by annular pancreas, all with a 'pliers' sign on the ultrasound images. We summarized the imaging features of the 'rat tail' sign and the 'pliers' sign. Conclusion: The main conclusion of this study was that the 'rat tail' sign could be used as an indirect ultrasound feature to diagnose duodenal diaphragm. The 'pliers' sign could be used as a direct ultrasound feature in the diagnosis of annular pancreas in CDO.
To provide useful information for diagnosing and predicting fetal intraabdominal extralobar pulmonary sequestration (IEPS), a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed serially in 21 fetuses with IEPS from 2005 to 2017. Prenatal sonographic features, treatment, and outcomes of each case were evaluated and collected. These cases of IEPS were also compared to 43 cases previously reported by other researchers from 1986 to 2017. Of the 21 sonographic features, 14 (67%) were hyperechoic, 21 (100%) were well circumscribed, and 17 (81%) depicted a mass that shifted with fetal breaths/hiccups non-synchronized with adjacent organs (sliding sign). Feeding arteries were detected prenatally in 18 patients (86%). The lesion volume was 10.17 ± 4.66 cm3, the congenital cystic adenomatoid malformation volume ratio and cardiothoracic ratio were in normal range. The gestational age at diagnosis, location and echotexture of the lesion, and rate of surgical treatment were similar to previous studies, but with a significantly higher rate of detected feeding arteries (P < 0.01), and associated anomalies (P < 0.01). All infants who underwent surgery after birth had satisfactory outcomes. The sliding sign and feeding artery are essential features of IEPS in prenatal diagnosis.
Background The prenatal diagnosis of foetal imperforate anus is difficult. Most previous studies have been case reports. To provide useful information for diagnosing foetal imperforate anus, a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed in 19 cases of foetal imperforate anus from 2016 to 2019 at our prenatal diagnostic centre. The prenatal sonographic features and outcomes of each case were collected and evaluated. Result The anal sphincter of a normal foetus shows the ‘target sign’ on cross-sectional observation. Of the 19 cases of imperforate anus, 16 cases were diagnosed by the ultrasound image feature called the ‘line sign’. 1 case with tail degeneration was low type imperforate anus with the irregular ‘target sign’ not a real ‘target sign’. There was two false-negative case, in which the ‘target sign’ was found, but irregular. Conclusion In this study, we find that the anus of a foetus with imperforate anus presents a ‘line sign’ on sonographic observation. The absence of the ‘target sign’ and then the presence of the ‘line sign’ can assist in the diagnosis of imperforate anus. The ‘line sign’ can be used as a secondary assessment to determine the type of the malformation following non visualization of the ‘target sign’. The higher the position of the imperforate anus is, the more obvious the ‘line sign’. It is worth noting that the finding of the short ‘line sign’ and irregularr ‘target sign’ can not ignore the low type imperforate anus.
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