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Objectives: The primary objective of this study was to assess whether fetuses with congenital heart disease (CHD) have smaller frontal brain areas compared with normal controls. The secondary objective was to evaluate whether there are any differences in frontal brain area between cases with different types of CHD, grouped according to their impact on hemodynamics.Methods: This was a retrospective cross-sectional study, including 421 normal fetuses and 101 fetuses with isolated CHD evaluated between 20 and 39 gestational weeks at our fetal medicine and surgery unit in the period January 2016-December 2019. The study group was subdivided, according to the CHD hemodynamics, as follows: (1) hypoplastic left heart syndrome and other forms of functionally univentricular heart defect; (2) transposition of the great arteries; (3) conotruncal defects and other CHDs with large shunts; (4) right ventricular outflow tract obstruction, without a hypoplastic right ventricle; (5) left outflow tract obstruction; (6) others. The transventricular axial view of the fetal head was used as the reference view, on which the frontal lobe anteroposterior diameter (FAPD) and the occipitofrontal diameter (OFD) were measured, assuming the former to be representative of the area of the frontal lobes. The FAPD/OFD ratio was then calculated as FAPD/OFD × 100. These two variables (FAPD and FAPD/OFD ratio) were then evaluated and compared between the study and control groups. Adjustment for gestational age, both via multiple linear regression and by using a-posteriori matching based on the propensity score, was employed.Results: In normal fetuses, FAPD showed a linear positive correlation with gestational age. In fetuses with CHD, the FAPD was shorter than in normal fetuses from the 20th  gestational week onwards, with the difference increasing after 30 gestational weeks. FAPD/OFD ratio was significantly smaller in fetuses with CHD than in normal fetuses (P < 0.0001) at all gestational ages, with no apparent differences among the various CHD categories, all of which had smaller FAPD/OFD ratio compared with controls.Conclusions: Fetuses with CHD have a shorter FAPD and a smaller FAPD/OFD ratio compared with normal fetuses. This impaired growth of the frontal area of the brain seems to occur in all types of CHD, regardless of their impact on hemodynamics. © 2021 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: To assess the relationship between presence of a redundant foramen ovale flap (RFOF), in the absence of a clearly restrictive foramen ovale, and ventricular disproportion, in three groups of fetuses: (1) those with a final diagnosis of aortic coarctation (CoA); (2) those referred for suspicion of ventricular disproportion and/or CoA which did not develop CoA postnatally; and (3) normal fetuses.Methods: This was a retrospective study including 73 fetuses: 12 with a final diagnosis of isolated CoA; 30 referred for suspicion of ventricular disproportion and/or CoA, which did not develop CoA postnatally; and 31 normal fetuses. Four-dimensional volume datasets and clips were assessed offline. Maximum diameters of the FOF (FOFD), left atrium (LAD), right atrium, left and right ventricles and, when available, aortic isthmus, were measured, as were areas of the FOF (FOFA), left atrium (LAA) and right atrium. The left/right ratios for all segments of the heart, as well as the FOFD/LAD ratio and FOFA/LAA ratio, were calculated. Regression analysis was performed to assess the relationship between RFOF and ventricular disproportion and means were compared by ANOVA.Results: Repeatability was fair, with all variables having an intraclass correlation coefficient ≥ 83%. In the pooled group of fetuses with no CoA found at birth (normal fetuses plus those with ventricular disproportion (n = 61)), there was a significant linear correlation between redundancy of the FOF and degree of ventricular disproportion (P < 0.01 and P < 0.05 for diameter and area ratios, respectively). Categorizing the FOF redundancy, FOFD/LAD ratio ≥ 0.65 was significantly associated with ventricular disproportion (P = 0.006). Based on the degree of FOF prominence, we described four categories of redundancy, ranging from no redundancy/ventricular disproportion (Stage 0) to severe redundancy/ventricular disproportion with transient obstruction of the foramen ovale or mitral orifice (Stage III). Comparing cases without neonatal evidence of coarctation but FOFD/LAD ratio ≥ 0.65 vs those with neonatal evidence of coarctation, there was no statistically significant difference in the degree of ventricular disproportion or in the Z-score of the aortic isthmus maximum diameter.Conclusions: This study demonstrates that: (1) there is an association between RFOF and ventricular disproportion, independent of the association with a restrictive foramen ovale, and (2) the presence of a RFOF may mimic CoA. In fact, it causes both ventricular disproportion and a significant reduction in the diameter of the aortic isthmus, associated in some cases also with reversed isthmic flow. Future prospective studies are needed to evaluate whether focusing the sonologist's attention on the appearance of the foramen ovale may reduce the rate of false-positive diagnosis of CoA. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC) anomalous pulmonary venous connection and scimitar syndrome (SS).Methods: A retrospective cohort study was carried out of cases of TAPVC, PAPVC and SS that underwent comprehensive ultrasound examination, seen over a 20-year period at two tertiary referral centers. Assessed variables included TAPVC subtype, gestational age at diagnosis, area behind the left atrium, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extracardiac conditions, and pregnancy and fetoneonatal outcomes. The outcome was considered favorable if the individual was alive and well (no functional impairment from surgery or cardiac or extracardiac conditions). Cases associated with right isomerism were excluded from the analysis, as TAPVC in these cases was only one of several major cardiac anomalies affecting sonographic signs. A systematic review was performed in order to obtain a synthesis of characteristics associated with TAPVC, PAPVC and SS. The literature search of PubMed and EMBASE (1970-2016) included reviews, case series and case reports. A meta-analysis was conducted only for TAPVC. Random-effects models were used to obtain pooled estimates of the frequencies of clinical characteristics and sonographic features.Results: For TAPVC, a total of 15 studies involving 71 patients (including 13 from the current cohort study) were included in the systematic review and meta-analysis. The pooled estimate for the association of TAPVC with congenital heart disease was 28.3% (95% CI, 18.1-41.3%) and with extracardiac anomalies it was 18.5% (95% CI, 10.5-30.6%). Of TAPVC cases, obstructed venous return was observed in 34.1% (95% CI, 22.7-47.7%), a favorable outcome in 43.8% (95% CI, 24.0-65.8%), ventricular disproportion in 59.2% (95% CI, 45.1-72.0%), increased area behind the left atrium in 58.1% (95% CI, 41.1-73.5%) and a vertical vein in 59.3% (95% CI, 41.1-75.3%). Diagnosis was established by using color or power Doppler in 84.9% (95% CI, 67.3-93.9%) of cases. For SS, there were only three studies describing eight cases, to which the current study added another five. Ventricular disproportion was present in three out of nine SS cases for which data were available, but for two of these, there was a concurrent heart anomaly. Color Doppler was used for all SS diagnoses, and four-dimensional echocardiography was useful in two out of six cases in which it was used. Outcome for SS cases was generally good. For PAPVC, there were only five studies describing five cases, to which the current study added another two. Major cardiac anomalies were associated in four out of seven of these cases, and extracardiac anomalies in three out of six cases for which data were available.Conclusions: TAPVC can be associated with other cardiac and extracardiac anomalies in a significant percentage of cases. Leading sonographic signs are ventricular disproportion, increased area behind the left atrium and the finding of a vertical vein. Color/power Doppler is the key mode for diagnosis of TAPVC. Obstructed venous return can be expected in roughly one-third of cases of TAPVC and outcome is favorable in less than half of cases. Data for SS and PAPVC are too few to synthesize. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Two cases of ultrasound diagnosis of Holt-Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to concurrent tricuspid regurgitation or other cardiac anomalies. In both cases the associated skeletal anomaly was subtle and barely visible using ultrasound. Interestingly, despite the fact that Holt-Oram syndrome is also called atriodigital dysplasia, unexplained right atrial enlargement has not been described in this context in the fetus before. When such a finding is detected, we believe a thorough search for upper limb abnormalities should be carried out and genetic testing for Holt-Oram syndrome should be discussed with the parents. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]