University of Birmingham, School of Clinical and Experimental Medicine, Birmingham, UK.
Health Technol Assess. 2012;16(2):v-xiii, 1-184. doi: 10.3310/hta16020.
Screening for congenital heart defects (CHDs) relies on antenatal ultrasound and postnatal clinical examination; however, life-threatening defects often go undetected.
To determine the accuracy, acceptability and cost-effectiveness of pulse oximetry as a screening test for CHDs in newborn infants.
A test accuracy study determined the accuracy of pulse oximetry. Acceptability of testing to parents was evaluated through a questionnaire, and to staff through focus groups. A decision-analytic model was constructed to assess cost-effectiveness.
Six UK maternity units.
These were 20,055 asymptomatic newborns at ≥ 35 weeks' gestation, their mothers and health-care staff.
Pulse oximetry was performed prior to discharge from hospital and the results of this index test were compared with a composite reference standard (echocardiography, clinical follow-up and follow-up through interrogation of clinical databases).
Detection of major CHDs - defined as causing death or requiring invasive intervention up to 12 months of age (subdivided into critical CHDs causing death or intervention before 28 days, and serious CHDs causing death or intervention between 1 and 12 months of age); acceptability of testing to parents and staff; and the cost-effectiveness in terms of cost per timely diagnosis.
Fifty-three of the 20,055 babies screened had a major CHD (24 critical and 29 serious), a prevalence of 2.6 per 1000 live births. Pulse oximetry had a sensitivity of 75.0% [95% confidence interval (CI) 53.3% to 90.2%] for critical cases and 49.1% (95% CI 35.1% to 63.2%) for all major CHDs. When 23 cases were excluded, in which a CHD was already suspected following antenatal ultrasound, pulse oximetry had a sensitivity of 58.3% (95% CI 27.7% to 84.8%) for critical cases (12 babies) and 28.6% (95% CI 14.6% to 46.3%) for all major CHDs (35 babies). False-positive (FP) results occurred in 1 in 119 babies (0.84%) without major CHDs (specificity 99.2%, 95% CI 99.0% to 99.3%). However, of the 169 FPs, there were six cases of significant but not major CHDs and 40 cases of respiratory or infective illness requiring medical intervention. The prevalence of major CHDs in babies with normal pulse oximetry was 1.4 (95% CI 0.9 to 2.0) per 1000 live births, as 27 babies with major CHDs (6 critical and 21 serious) were missed. Parent and staff participants were predominantly satisfied with screening, perceiving it as an important test to detect ill babies. There was no evidence that mothers given FP results were more anxious after participating than those given true-negative results, although they were less satisfied with the test. White British/Irish mothers were more likely to participate in the study, and were less anxious and more satisfied than those of other ethnicities. The incremental cost-effectiveness ratio of pulse oximetry plus clinical examination compared with examination alone is approximately £24,900 per timely diagnosis in a population in which antenatal screening for CHDs already exists.
Pulse oximetry is a simple, safe, feasible test that is acceptable to parents and staff and adds value to existing screening. It is likely to identify cases of critical CHDs that would otherwise go undetected. It is also likely to be cost-effective given current acceptable thresholds. The detection of other pathologies, such as significant CHDs and respiratory and infective illnesses, is an additional advantage. Other pulse oximetry techniques, such as perfusion index, may enhance detection of aortic obstructive lesions.
The National Institute for Health Research Health Technology programme.
先天性心脏病（CHD）的筛查依赖于产前超声和产后临床检查；然而，危及生命的缺陷往往无法被发现。
确定脉搏血氧饱和度作为新生儿 CHD 筛查测试的准确性、可接受性和成本效益。
一项测试准确性研究确定了脉搏血氧饱和度的准确性。通过问卷调查评估了对父母的检测可接受性，通过焦点小组评估了对工作人员的可接受性。构建了一个决策分析模型来评估成本效益。
英国六家产科单位。
这些是 35 周以上无症状新生儿 20055 名，及其母亲和医护人员。
在出院前进行脉搏血氧饱和度检测，将该指数检测的结果与复合参考标准（超声心动图、临床随访和通过临床数据库查询进行随访）进行比较。
检测出主要的 CHD——定义为导致死亡或在 12 个月龄前需要介入治疗（细分为在 28 天内导致死亡或介入治疗的严重 CHD，以及在 1 至 12 个月龄内导致死亡或介入治疗的严重 CHD）；对父母和工作人员检测的可接受性；以及在及时诊断方面的成本效益，即每及时诊断一例的成本。
20055 名筛查婴儿中有 53 名患有主要 CHD（24 例严重 CHD，29 例严重 CHD），患病率为每 1000 例活产儿 2.6 例。脉搏血氧饱和度对严重病例的敏感性为 75.0%（95%置信区间 53.3%至 90.2%），对所有主要 CHD 的敏感性为 49.1%（95%置信区间 35.1%至 63.2%）。排除 23 例在产前超声检查后已怀疑有 CHD 的病例后，脉搏血氧饱和度对严重病例的敏感性为 58.3%（95%置信区间 27.7%至 84.8%）（12 例婴儿）和所有主要 CHD 的 28.6%（95%置信区间 14.6%至 46.3%）（35 例婴儿）。假阳性（FP）结果在 119 名无主要 CHD 的婴儿中出现了 1 例（0.84%）（特异性 99.2%，95%置信区间 99.0%至 99.3%）。然而，在 169 例 FP 中，有 6 例为有但不严重的 CHD，40 例为需要医疗干预的呼吸或感染性疾病。在脉搏血氧饱和度正常的婴儿中，主要 CHD 的患病率为每 1000 例活产儿 1.4 例（95%置信区间 0.9 至 2.0），因为有 27 例患有主要 CHD（6 例严重，21 例严重）被漏诊。父母和工作人员参与者主要对筛查感到满意，认为这是检测患病婴儿的重要测试。没有证据表明接受 FP 结果的母亲比接受真阴性结果的母亲在参与后更焦虑，尽管她们对测试的满意度较低。白种/爱尔兰裔母亲更有可能参与研究，并且比其他种族的母亲焦虑程度较低，满意度较高。与仅检查相比，脉搏血氧饱和度加临床检查的增量成本效益比在已经存在 CHD 产前筛查的人群中，每及时诊断一例的成本约为 24900 英镑。
脉搏血氧饱和度是一种简单、安全、可行的测试，父母和工作人员都可以接受，并且增加了现有筛查的价值。它有可能发现否则会被遗漏的严重 CHD 病例。鉴于目前可接受的阈值，它也可能具有成本效益。检测其他病理学，如严重 CHD 和呼吸及感染性疾病，是额外的优势。其他脉搏血氧饱和度技术，如灌注指数，可能会增强对主动脉阻塞性病变的检测。
英国国家卫生研究院健康技术计划。
