Debost-Legrand Anne, Ouchchane Lemlih, Francannet Christine, Goumy Carole, Perthus Isabelle, Beaufrère Anne-Marie, Gallot Denis, Lemery Didier, Lusson Jean-René, Laurichesse-Delmas Hélène
Service de Santé Publique, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
EA 4681, PEPRADE, Clermont Université, Université d'Auvergne, Clermont-Ferrand, France.
Birth Defects Res A Clin Mol Teratol. 2016 Mar;106(3):178-84. doi: 10.1002/bdra.23474. Epub 2015 Dec 21.
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.
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.
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.
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.
大动脉转位（TGA）定义为房室连接一致而心室动脉连接不一致，是最常见的先天性心脏缺陷之一。TGA的产前诊断仍然困难。为了确定产前诊断的影响，我们考虑两个研究时期和两种主要类型的TGA，评估了TGA产前检测的敏感性和新生儿死亡率。
进行了一项横断面研究。数据收集自法国基于人群的出生缺陷登记处。1988年至2012年，登记了94例患有TGA的胎儿。研究时期分为1988年至1999年和2000年至2012年。考虑两种类型的TGA：孤立性TGA（n = 66）和相关性TGA（n = 28）。进行了分层分析，考虑了研究时期和TGA的类型。
考虑研究时期，TGA产前检测的敏感性显著提高（9.8%对51.5%，p = 0.0001）。相关性TGA（4.8%对33.3%，p = 0.002）和孤立性TGA（21.1%对100%，p < 0.001）也发现了相同趋势。13.2%的病例观察到TGA的延迟诊断（出生后7天）。孤立性TGA的新生儿死亡率随时间显著降低（25.0%对0，p = 0.01）。两种类型TGA的产前诊断均未改善生存率。
我们证明，TGA的产前诊断和新生儿死亡率因畸形类型和研究时期而异。这可以通过医疗管理方面的改善来解释。
