Jortveit Jarle, Wik Gunnar, Ødegaard Jostein Strand, Sitras Vasilis, Perminow Karl Viktor, Holmstrøm Henrik
Tidsskr Nor Laegeforen. 2019 Jan 21;139(2). doi: 10.4045/tidsskr.18.0606. Print 2019 Jan 29.
Most structural congenital heart defects can be identified prenatally through ultrasound examination in pregnancy or via routine examinations during hospital maternity stays, but in some cases, heart defects are not discovered prior to discharge. There has been little previous research into detection rates with the various methods available. In this study, we have examined the timing and method of diagnosis of severe congenital heart defects.
All children with severe heart defects born in Norway in 2016 and registered at Oslo University Hospital were included in this study. In addition, information on committee-handled abortions (after the 12th week of pregnancy) was obtained from the Medical Birth Registry of Norway.
In total, 105 of 181 (58 %) severe heart defects were diagnosed prenatally, and 51 (28 %) pregnancies were terminated. Among the 73 live-born children with severe heart defects that went unrecognised prenatally, 33 (45 %) of the heart defects were discovered outside of routine examinations and 9 (12 %) after discharge from hospital. Coarctation of the aorta was the most common diagnosis in cases of late-detected heart defects.
This first national study of the diagnosis of severe congenital heart defects in Norway shows that most severe congenital heart defects are discovered prior to discharge from hospital after birth. However, almost half are diagnosed outside of routine examinations, and in some cases the diagnosis is not made until after discharge. The results indicate a need for new studies and for a quality registry of congenital heart defects to further improve diagnosis and early treatment.
大多数结构性先天性心脏缺陷可在孕期通过超声检查或在医院产科住院期间的常规检查得以产前确诊，但在某些情况下，心脏缺陷在出院前并未被发现。此前针对现有各种方法的检出率的研究较少。在本研究中，我们调查了严重先天性心脏缺陷的诊断时机和方法。
纳入2016年在挪威出生并在奥斯陆大学医院登记的所有患有严重心脏缺陷的儿童。此外，从挪威医疗出生登记处获取有关委员会处理的流产（妊娠12周后）的信息。
总共181例严重心脏缺陷中有105例（58%）在产前被诊断出，51例（28%）妊娠被终止。在73例产前未被识别的患有严重心脏缺陷的活产儿童中，33例（45%）的心脏缺陷是在常规检查之外被发现的，9例（12%）是在出院后被发现的。主动脉缩窄是晚期发现的心脏缺陷中最常见的诊断。
挪威这项关于严重先天性心脏缺陷诊断的首次全国性研究表明，大多数严重先天性心脏缺陷在出生后出院前被发现。然而，近一半是在常规检查之外被诊断出的，在某些情况下，直到出院后才做出诊断。结果表明需要开展新的研究并建立先天性心脏缺陷质量登记处，以进一步改善诊断和早期治疗。
