Prenatal diagnosis of hypoplastic left heart syndrome on ultrasound using artificial intelligence: How does performance compare to a current screening programme?

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2024-06-01 Epub Date: 2023-09-30 DOI:10.1002/pd.6445
Thomas G Day, Samuel Budd, Jeremy Tan, Jacqueline Matthew, Emily Skelton, Victoria Jowett, David Lloyd, Alberto Gomez, Jo V Hajnal, Reza Razavi, Bernhard Kainz, John M Simpson
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引用次数: 0

Abstract

Background: Artificial intelligence (AI) has the potential to improve prenatal detection of congenital heart disease. We analysed the performance of the current national screening programme in detecting hypoplastic left heart syndrome (HLHS) to compare with our own AI model.

Methods: Current screening programme performance was calculated from local and national sources. AI models were trained using four-chamber ultrasound views of the fetal heart, using a ResNet classifier.

Results: Estimated current fetal screening programme sensitivity and specificity for HLHS were 94.3% and 99.985%, respectively. Depending on calibration, AI models to detect HLHS were either highly sensitive (sensitivity 100%, specificity 94.0%) or highly specific (sensitivity 93.3%, specificity 100%). Our analysis suggests that our highly sensitive model would generate 45,134 screen positive results for a gain of 14 additional HLHS cases. Our highly specific model would be associated with two fewer detected HLHS cases, and 118 fewer false positives.

Conclusion: If used independently, our AI model performance is slightly worse than the performance level of the current screening programme in detecting HLHS, and this performance is likely to deteriorate further when used prospectively. This demonstrates that collaboration between humans and AI will be key for effective future clinical use.

使用人工智能的超声产前诊断左心发育不全综合征:与目前的筛查计划相比,表现如何?
背景:人工智能(AI)有可能改善先天性心脏病的产前检测。我们分析了当前国家筛查计划在检测左心发育不良综合征(HLHS)方面的表现,并与我们自己的AI模型进行了比较。方法:从地方和国家来源计算当前筛查计划的执行情况。人工智能模型使用ResNet分类器,使用胎儿心脏的四腔超声视图进行训练。结果:目前胎儿筛查计划对HLHS的敏感性和特异性分别为94.3%和99.985%。根据校准,检测HLHS的AI模型要么是高度敏感的(灵敏度100%,特异性94.0%),要么是高度特异性的(灵敏度93.3%,特异性100%)。我们的分析表明,我们的高灵敏度模型将产生45134个筛选阳性结果,从而增加14个额外的HLHS病例。我们的高度特异性模型将减少两例检测到的HLHS病例,减少118例假阳性。结论:如果独立使用,我们的AI模型在检测HLHS方面的性能略低于当前筛查计划的性能水平,并且在前瞻性使用时,这种性能可能会进一步恶化。这表明,人类和人工智能之间的合作将是未来有效临床应用的关键。
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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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