Fetal aorto-pulmonary window: case series and review of the literature

Aorto-pulmonary window is a rare congenital cardiac anomaly characterized by a communication between the aorta and the pulmonary artery above the semilunar valves. Prenatal diagnosis is rare. We report four fetuses with aorto-pulmonary window and review the relevant literature. Approximately half of the reported cases had additional cardiac defects; none had chromosomal abnormalities. In cases with normal cardiac connections, the diagnosis can be made prenatally on the standard three–vessel view as seen in two of our cases. In one fetus with complete transposition, the diagnosis was made retrospectively on sagittal views. In the remaining case the window was seen post-natally but could not be identified retrospectively due to the abnormal supero-inferior relationship of the ventricles and vessels

Total anomalous pulmonary venous connection to an unroofed coronary sinus diagnosed in a fetus with associated spinal muscular atrophy type I

Total anomalous pulmonary venous connection (TAPVC) to unroofed coronary sinus is a rare cardiac condition. We report the first case of antenatal diagnosis which had a rapid and fatal neonatal course due to spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). The diagnosis of TAPVC with unroofing of the coronary sinus was made at 26 weeks’ gestation, although a dilated inferior caval vein had been recognised at 23 weeks’ gestation. Due to profound hypotonia after birth, genetic review followed by muscle biopsy was performed due to presumptive diagnosis of SMA. The infant deteriorated rapidly, became ventilator dependent and died at the age of 6 weeks. The worst types of SMA are associated with only one copy of SMN2 (survival motor neuron 2) protein, which was also the case of our infant. Although a powerful association with congenital heart defects was described, it has not been reported with TAPVC to unroofed coronary sinus. Moreover, this cardiac condition has not been previously recognised antenatally

Fetal hemodynamic response to aortic valvuloplasty and postnatal outcome: a European multicenter study

Objective: Fetal aortic stenosis may progress to hypoplastic left heart syndrome. Fetal valvuloplasty (FV) has been proposed to improve left heart hemodynamics and maintain biventricular (BV) circulation. The aim of this study was to assess FV efficacy by comparing survival and postnatal circulation between fetuses that underwent FV and those that did not. Methods: This was a retrospective multicenter study of fetuses with aortic stenosis that underwent FV between 2005 and 2012, compared with contemporaneously enrolled natural history (NH) cases sharing similar characteristics at presentation but not undergoing FV. Main outcome measures were overall survival, BV-circulation survival and survival after birth. Secondary outcomes were hemodynamic change and left heart growth. A propensity score model was created including 54/67 FV and 60/147 NH fetuses. Analyses were performed using logistic, Cox or linear regression models with inverse probability of treatment weighting (IPTW) restricted to fetuses with a propensity score of 0.14–0.9, to create a final cohort for analysis of 42 FV and 29 NH cases. Results: FV was technically successful in 59/67 fetuses at a median age of 26 (21–34) weeks. There were 7/72 (10%) procedure-related losses, and 22/53 (42%) FV babies were delivered at < 37 weeks. IPTW demonstrated improved survival of liveborn infants following FV (hazard ratio, 0.38; 95% CI, 0.23–0.64; P = 0.0001), after adjusting for circulation and postnatal surgical center. Similar proportions had BV circulation (36% for the FV cohort and 38% for the NH cohort) and survival was similar between final circulations. Successful FV cases showed improved hemodynamic response and less deterioration of left heart growth compared with NH cases (P ≤ 0.01). Conclusions: We report improvements in fetal hemodynamics and preservation of left heart growth following successful FV compared with NH. While the proportion of those achieving a BV circulation outcome was similar in both cohorts, FV survivors showed improved survival independent of final circulation to 10 years' follow-up. However, FV is associated with a 10% procedure-related loss and increased prematurity compared with the NH cohort, and therefore the risk-to-benefit ratio remains uncertain. We recommend a carefully designed trial incorporating appropriate and integrated fetal and postnatal management strategies to account for center-specific practices, so that the benefits achieved by fetal therapy vs surgical strategy can be demonstrated clearly. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd