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

前瞻性研究动机：CHM有很重的疾病负担，发生在约1%的出生，具有潜在的破坏性后果。在英国，第一年死亡率为8.6/10，000活产。令人惊讶的是，最近的一项国际调查报告称，产前仅在约50%的病例中检测到危重CHM，范围为13%至87%，表明难以实现良好的灵敏度特异性。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，管理和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，存活率会降低，并且缺乏计划和执行手术的时间会导致不良的脑循环并导致不良的长期神经学结果。此外，产前胎儿心脏干预最近已开发出特定的畸形，这只能提供给病人，如果畸形可以通过筛查检测。因此，我认为有迫切需要改善中草药检测技术。

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.