OBJECTIVE: To compare 5-year survival rate and morbidity in children with spina bifida, transposition of great arteries (TGA), congenital diaphragmatic hernia (CDH) or gastroschisis diagnosed prenatally with those diagnosed postnatally.
METHODS: Population-based registers\' data were linked to hospital and mortality databases.
RESULTS: Children whose anomaly was diagnosed prenatally (n = 1088) had a lower mean gestational age than those diagnosed postnatally (n = 1698) ranging from 8 days for CDH to 4 days for TGA. Children with CDH had the highest infant mortality rate with a significant difference (p < 0.001) between those prenatally (359/1,000 births) and postnatally (116/1,000) diagnosed. For all four anomalies, the median length of hospital stay was significantly greater in children with a prenatal diagnosis than those postnatally diagnosed. Children with prenatally diagnosed spina bifida (79% vs 60%; p = 0.002) were more likely to have surgery in the first week of life, with an indication that this also occurred in children with CDH (79% vs 69%; p = 0.06).
CONCLUSIONS: Our findings do not show improved outcomes for prenatally diagnosed infants. For conditions where prenatal diagnoses were associated with greater mortality and morbidity, the findings might be attributed to increased detection of more severe anomalies. The increased mortality and morbidity in those diagnosed prenatally may be related to the lower mean gestational age (GA) at birth, leading to insufficient surfactant for respiratory effort. This is especially important for these four groups of children as they have to undergo anaesthesia and surgery shortly after birth. Appropriate prenatal counselling about the time and mode of delivery is needed.

The transposition of great arteries (TGA) is one of the most frequent and severe congenital heart diseases. After newborn stabilization and while pending surgical correction, echocardiographic monitoring with a careful evaluation of left ventricle (LV) performance is warranted. In this study, our objectives were (i) to compare myocardial function, assessed via speckle-tracking echocardiography, between neonates with TGA and neonates without TGA and (ii) to identify a strain parameter with a good discriminatory ability for TGA. We conducted a retrospective, single-center study. A total of 90 neonates were examined, of whom 66 were included (16 comprised the TGA group and 50 comprised the control group). The results of a bivariate analysis showed that classic echocardiography parameters displayed no significant differences between the two studied groups (p = 0.785 for EF, p = 0.286 for MAPSE and p = 0.315 for TAPSE). We found a statistically significant difference between the two groups for the mean values of the LVpGLS parameter (adjusted p = 0.0047), with impaired LV myocardium function being observed in the TGA group after adjusting for other covariates. Regarding segmental strain, the mean medial and apical inter-ventricular septum strain values were found to be significantly lower in the neonates with TGA than in the controls (95% CI for difference in means: [-6.45, -0.65], [-8.56, -1.97]). The results of an ROC analysis showed that LVpGLS had a significant ability to differentiate between neonates with TGA and controls (AUC = 0.712, 95% CI: [0.52, 0.903], p = 0.011). In conclusion, LVpGLS is a parameter with a significant discriminatory ability for LV dysfunction, and it is useful in the evaluation of ventricular myocardial function in newborns with TGA.

OBJECTIVE: To evaluate whether a nationwide prenatal anomaly screening programme improves detection rates of univentricular heart (UVH) and transposition of great arteries (TGA), and whether maternal risk factors for severe fetal heart disease affect prenatal detection.
METHODS: Population-based cohort study.
METHODS: Nationwide data from Finnish registries 2004-14.
METHODS: A total of 642 456 parturients and 3449 terminated pregnancies due to severe fetal anomaly.
METHODS: Prenatal detection rates were calculated in three time periods (prescreening, transition and screening phase). The effect of maternal risk factors (obesity, in vitro fertilisation, pregestational diabetes and smoking) was evaluated.
METHODS: Change in detection rates and impact of maternal risk factors on screening programme efficacy.
RESULTS: In total, 483 cases of UVH and 184 of TGA were detected. The prenatal detection rate of UVH increased from 50.4% to 82.8% and of TGA from 12.3% to 41.0% (P < 0.0001). Maternal risk factors did not affect prenatal detection rate, but detection rate differed substantially by region.
CONCLUSIONS: A nationwide screening programme improved overall UVH and TGA detection rates, but regional differences were observed. Obesity or other maternal risk factors did not affect the screening programme efficacy. The establishment of structured guidelines and recommendations is essential when implementing the screening programme. In addition, a prospective screening register is highly recommended to ensure high quality of screening.
UNASSIGNED: Implementation of a nationwide prenatal anomaly screening improved detection rates of UVH and TGA.

BACKGROUND: Transposition of great arteries (TGA) defined as the combination of concordant atrioventricular and discordant ventriculo-arterial connections is one of the most common congenital heart defects. Prenatal diagnosis of TGA remains difficult. To determine the impact of antenatal diagnosis we evaluated the sensitivity of antenatal detection and the neonatal mortality of TGA considering two study periods and two major types of TGA.
METHODS: A cross-sectional study was performed. Data were collected from a French population-based birth defect registry. From 1988 to 2012, 94 fetuses with TGA were registered. The study period was subdivided into the 1988 to 1999 period and the 2000 to 2012 period. Two types of TGA were considered: isolated TGA (n = 66) and associated TGA (n = 28). A stratified analysis was performed considering the study periods and the types of TGA.
RESULTS: Considering the study periods, the sensitivity of prenatal detection of TGA increased significantly (9.8% vs. 51.5%, p = 0.0001). The same trend was found for associated TGA (4.8% vs. 33.3%, p = 0.002) and isolated TGA (21.1% vs. 100%, p < 0.001). A late diagnosis of TGA (7 days after birth) was observed in 13.2% of cases. Neonatal mortality decreased significantly over time for isolated TGA (25.0% vs. 0 p = 0.01). Prenatal diagnosis of both types of TGA did not improve survival.
CONCLUSIONS: We demonstrated that prenatal diagnosis and neonatal mortality of TGA varied greatly according to the malformation type and the study period. This could be explained by an improvement in terms of medical management.