Double aortic arch: implications of antenatal diagnosis, differential growth of arches during pregnancy, associated abnormalities and postnatal outcome.

OBJECTIVES: To evaluate the prenatal characteristics of double aortic arch (DAA), assess the relative size of the arches and their growth during pregnancy, describe associated cardiac, extracardiac and chromosomal/genetic abnormalities and review postnatal presentation and clinical outcome. METHODS: This was a retrospective cohort study of all fetuses with a confirmed diagnosis of DAA seen in five specialized referral centers in London, UK, between October 2012 and November 2019. Cases were identified from the hospitals' fetal databases. Fetal echocardiographic findings, intracardiac and extracardiac abnormalities, genetic defects, computed tomography (CT) findings and postnatal clinical presentation and outcome were evaluated. RESULTS: A total of 79 fetuses with DAA were included. Of those assessed postnatally, 48.6% had an atretic left aortic arch (LAA), while 5.1% had an atretic LAA at the first fetal scan and were misdiagnosed antenatally with right aortic arch (RAA). The LAA was atretic in 55.8% of those who underwent CT. DAA was an isolated abnormality in 91.1% of cases; 8.9% of patients had an additional intracardiac abnormality and 2.5% had both intra- and extracardiac abnormalities. Among the 52 cases that underwent genetic testing, 11.5% had genetic abnormalities and, specifically, the 22q11 microdeletion was identified in 3.8% of patients. At a median follow-up of 993.5 days, 42.5% of patients had developed symptoms of tracheoesophageal compression (5.5% during the first month after birth) and 56.2% had undergone intervention. Statistical analysis using the χ-square test showed no significant relationship between morphology of DAA (patency of both aortic arches vs atretic LAA) and the need for intervention (P = 0.134), development of vascular ring symptoms (P = 0.350) or evidence of airway compression on CT (P = 0.193). CONCLUSIONS: Most cases of DAA can be diagnosed easily at midgestation, as typically both arches are patent with a dominant RAA at this stage. However, we found that the LAA had become atretic in approximately half of the cases postnatally, supporting the theory of differential growth of the arches during pregnancy. DAA is usually an isolated abnormality; however, thorough assessment is required to exclude associated intra- and extracardiac anomalies and to determine the need for invasive prenatal genetic testing. Postnatally, early clinical assessment is needed and CT scan should be considered, irrespective of the presence of symptoms. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Diaphragmatic hernia: a postnatal complication of anomalous drainage of the umbilical vein.

The ductus venosus (DV) connects the portal venous system to the inferior vena cava. Rarely, the umbilical venous drainage is anomalous, either connecting to the portal sinus within the liver or having an extrahepatic connection, bypassing the liver and draining to one of a variety of sites, including to the heart directly. Prenatally, there is a recognized association of anomalous umbilical venous drainage with aneuploidy and other structural malformations. The fetus may also develop right heart failure because of unregulated volume loading. We report the postnatal development of diaphragmatic hernia in three fetuses with absent DV and umbilical venous drainage to the right atrium directly in two cases and to the coronary sinus in the third. In all fetuses, the abnormality was well-tolerated in pregnancy, with only a modest degree of right heart dilatation. All three neonates underwent repair of the diaphragmatic hernia and made a good recovery.

Sonographic predictors of surgery in fetal coarctation of the aorta.

OBJECTIVES: Isolated fetal coarctation of the aorta (CoA) has high false-positive diagnostic rates by cardiologists in tertiary centers. Isthmal diameter Z-scores (I), ratio of isthmus to duct diameters (I:D), and visualization of CoA shelf (Shelf) and isthmal flow disturbance (Flow) distinguish hypoplastic from normal aortic arches in retrospective studies, but their ability to predict a need for perinatal surgery is unknown. The aim of this study was to determine whether these four sonographic features could differentiate prenatally cases which would require neonatal surgery in a prospective cohort diagnosed with CoA by a cardiologist. METHODS: From 83 referrals with cardiac disproportion (January 2006 to August 2010), we identified 37 consecutive fetuses diagnosed with CoA. Measurements of I and I:D were made and the presence of Shelf or Flow recorded. Sensitivity, specificity and areas under receiver-operating characteristics curves, using previously reported limits of I < - 2 and I:D < 0.74, as well as Shelf and Flow were compared at first and final scan. Associations between surgery and predictors were compared using multivariable logistic regression and changes in measurements using ANCOVA. RESULTS: Among the 37 fetuses, 30 (81.1%) required surgery and two with an initial diagnosis of CoA were revised to normal following isthmal growth, giving an 86% diagnostic accuracy at term. The median age at first scan was 22.4 (range. 16.6-7.0) weeks and the median number of scans per fetus was three (range, one to five). I < - 2 at final scan was the most powerful predictor (odds ratio, 3.6 (95% CI, 0.47-27.3)). Shelf was identified in 66% and Flow in 50% of fetuses with CoA. CONCLUSION: Incorporation of these four sonographic parameters in the assessment of fetuses with suspected CoA at a tertiary center resulted in better diagnostic precision regarding which cases would require neonatal surgery than has been reported previously.

Timing of presentation and postnatal outcome of infants suspected of having coarctation of the aorta during fetal life.

OBJECTIVE: To report the timing of presentation and clinical profile of a cohort of fetuses with normal main cardiac connections but fetal echocardiographic signs suggestive of coarctation of the aorta. DESIGN: Retrospective observational study. SETTING: Tertiary fetal and paediatric cardiology centre. PATIENTS: Between 1 January 1998 and 31 December 2002, 174 fetuses were studied, of whom 144 infants were born alive. MAIN OUTCOME MEASURES: Of the 144 liveborn infants, 43 had coarctation of the aorta, four had interruption of the aortic arch, and one was managed as having hypoplastic left heart syndrome. Hemianomalous pulmonary venous drainage was diagnosed in two infants. Three infants with coarctation presented late at 7-13 weeks of age, 6-12 weeks after closure of the arterial duct. Fetuses with cardiac asymmetry had a higher incidence of left superior vena cava than a control group. For fetuses with cardiac asymmetry, the incidence of left superior vena cava and ventricular septal defects was similar in infants who proved to have coarctation postnatally and in those who did not. The 30 day and one year surgical mortality of infants having repair of coarctation of the aorta was two of 41 (4.9%, 95% confidence interval (CI) 0.6 to 16.0). All cause mortality of liveborn infants with any abnormality of the aortic arch was five of 48 (10.4%, 95% CI 3.5 to 22.7) at 30 days and one year, which was heavily influenced by prematurity and extracardiac abnormalities. CONCLUSIONS: Precise diagnosis of coarctation of the aorta during fetal life remains difficult. Coarctation of the aorta may present several weeks after closure of the arterial duct and sequential echocardiography is recommended.