Department of Neonatal and Developmental Medicine, Singapore General Hospital, Singapore.
Cardiology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore.
Singapore Med J. 2021 Jul;62(7):341-346. doi: 10.11622/smedj.2019167. Epub 2019 Dec 10.
Congenital heart disease (CHD) is a leading cause of infant mortality. The aim of this study was to evaluate the efficacy of a neonatal screening programme for CHD before the introduction of pulse oximetry.
This was a retrospective review of live births in the period 2003-2012. Cases of CHD were detected through prenatal ultrasonography and/or postnatal examination, and confirmed using two-dimensional echocardiography. Data was rigorously checked against multiple sources. The antenatal detection rate, sensitivity, specificity, predictive values and likelihood ratios of the screening programme were analysed for all cases of CHD and critical CHD.
The incidence of CHD was 9.7 per 1,000 live births. The commonest CHD was ventricular septal defect (54.8%). The antenatal detection rate was three times higher in the critical CHD group (64.0%) compared to the group as a whole (21.1%). The sensitivity and specificity of screening was 64.5% and 99.7% for all CHD, and 92.9% and 99.1% for the critical CHD group, respectively. The positive likelihood ratio was 215 and 103, while the negative likelihood ratio was 0.36 and 0.07 for all CHD and critical CHD, respectively.
The CHD screening programme had excellent specificity but limited sensitivity. The high positive likelihood ratios indicate that where sufficient risk factors for CHD are present, a positive result effectively confirms the presence of CHD. The low negative likelihood ratio for critical CHD indicates that, where prior suspicion for critical CHD is low, a negative result is reassuring.
先天性心脏病（CHD）是婴儿死亡的主要原因。本研究旨在评估在引入脉搏血氧饱和度之前，CHD 新生儿筛查计划的疗效。
这是对 2003 年至 2012 年期间活产儿的回顾性研究。通过产前超声检查和/或产后检查发现 CHD 病例，并通过二维超声心动图确诊。数据经过多种来源的严格检查。分析了所有 CHD 和严重 CHD 病例的筛查计划的产前检出率、敏感性、特异性、预测值和似然比。
CHD 的发病率为每 1000 例活产儿 9.7 例。最常见的 CHD 是室间隔缺损（54.8%）。在严重 CHD 组中，产前检出率是整体组的三倍（64.0%）。所有 CHD 的筛查敏感性和特异性分别为 64.5%和 99.7%，严重 CHD 组分别为 92.9%和 99.1%。阳性似然比分别为 215 和 103，而所有 CHD 和严重 CHD 的阴性似然比分别为 0.36 和 0.07。
CHD 筛查计划具有出色的特异性，但敏感性有限。高阳性似然比表明，在存在足够的 CHD 风险因素的情况下，阳性结果有效地证实了 CHD 的存在。严重 CHD 的低阴性似然比表明，在严重 CHD 的先前怀疑较低的情况下，阴性结果令人安心。
