Congenital Heart Malformation Detection, Disease Progression Prediction, and Intervention Planning

前瞻性研究动机：CHM有沉重的疾病负担，发生在约1%的新生儿中，具有潜在的破坏性后果。在英国，第一年的死亡率为8.6/10,000个活产儿。令人惊讶的是，最近的一项国际调查报告称，只有~50%的病例在产前发现了临界CHM，范围在13%到87%之间，这表明很难获得良好的敏感性和特异性。在英国，这一比例为40%-50%。这是一个大问题，因为成功的产前诊断允许密切监测、管理以及产前和产后干预计划，并已被证明能够改善结果。如果CHM检测发生在出生后，存活率会下降，缺乏时间来计划和执行手术会延长不利的大脑循环，并导致不利的长期神经后果。此外，最近开发了针对特定畸形的产前胎儿心脏干预，只有在通过筛查可以检测到畸形的情况下，患者才能进行这项干预。因此，我认为迫切需要改进中药检测技术。

Prospective research motivation:CHM has a heavy disease burden, occurring in ~1% of births, with potentially devastating consequences. In the UK, first-year mortality occurs in 8.6/10,000 live births. Surprisingly, a recent international survey reported that critical CHM was prenatally detected in only ~50% of cases and can range from 13% to 87%, indicating difficulty achieving good sensitivity specificity. In the UK, this was 40-50%. This is a big problem because successful prenatal diagnosis allows close monitoring, management, and pre-and post-natal intervention planning and has been shown to be able to improve outcomes. If CHM detection occurs after birth, survival rates decrease, and the lack of time to plan and execute surgery prolongs adverse brain circulation and lead to adverse long-term neurological outcomes. Additionally, prenatal fetal heart intervention has recently been developed for specific malformations, and this can only be available to the patient if the malformation can be detected via screening. I thus believe that there is an urgent need to improve CHM detection technology.