De Bernardo Giuseppe, Arienzo Maria Rosaria, Barbieri Flavia, Centanni Fabio, Moccia Francesconina, Giordano Maurizio, Buonocore Giuseppe, Perrone Serafina
Department of Woman and Child, Buon Consiglio Fatebenefratelli Hospital, Naples, Italy.
Division of Pediatrics, Department of Transaltional Medical Sciences, University of Naples "Federico II", Naples, Italy.
Curr Pediatr Rev. 2025;21(3):227-232. doi: 10.2174/0115733963315664241024043935.
Critical congenital heart diseases are life-threatening, with a high morbidity rate and mortality among newborns; in fact, a newborn discharged from the hospital with undiagnosed heart disease may experience severe complications during the initial days or weeks of their life, necessitating emergency care and even death. Among all kinds of critical congenital heart disease, coarctation of the aorta is one of the most difficult to diagnose because it only becomes noticeable a few days after birth, when patients have already been discharged from the hospital. This underlines the importance of having a reliable diagnostic tool to discover these diseases. The identification of some of these patients can be achieved through newborn screening with pulse oximetry, but only a small number are diagnosed. Hence, the objective of this review was to determine the value of pulse oximetry screening for the early detection of congenital heart defects in newborns, with a focus on coarctation of the aorta. A literature search was conducted between December 2023 and February 2024 using four electronic databases: Pubmed, Google Scholar, Embase, and Scopus to identify studies that evaluated the efficacy of pre- and post-discharge neonatal ductal saturation monitoring for the diagnosis of critical congenital heart defects before discharge. Twenty research studies with a large number of patients, demonstrating moderate sensitivity and high specificity of pulse oximetry test in detecting critical heart defects, especially coarctation of the aorta, were selected and analyzed. Many confirmations have been found of how good the specificity of screening is, reaching an average value of 99.9% in each study analyzed. The problem still lies in the sensitivity of the screening, which is not as good as the specificity, never reaching 90% in any of the studies analysed. So, it is crucial to keep up with efforts to improve the efficacy of the pulse oximetry screening method.
危重型先天性心脏病危及生命，在新生儿中发病率和死亡率很高；事实上，患有未确诊心脏病而出院的新生儿可能在出生后的最初几天或几周内出现严重并发症，需要紧急护理甚至死亡。在所有类型的危重型先天性心脏病中，主动脉缩窄是最难诊断的疾病之一，因为它在出生几天后才会显现出来，而此时患者已经出院。这凸显了拥有可靠诊断工具来发现这些疾病的重要性。通过脉搏血氧饱和度测定进行新生儿筛查可以识别其中一些患者，但只有少数患者能被诊断出来。因此，本综述的目的是确定脉搏血氧饱和度测定筛查在早期检测新生儿先天性心脏缺陷中的价值，重点是主动脉缩窄。2023年12月至2024年2月期间，使用四个电子数据库进行了文献检索：PubMed、谷歌学术、Embase和Scopus，以识别评估出院前和出院后新生儿导管饱和度监测对诊断危重型先天性心脏缺陷疗效的研究。选择并分析了20项涉及大量患者的研究，这些研究表明脉搏血氧饱和度测定试验在检测危重型心脏缺陷，尤其是主动脉缩窄方面具有中等敏感性和高特异性。在分析的每项研究中，都发现了许多证据证实筛查的特异性有多好，平均达到99.9%。问题仍然在于筛查的敏感性，它不如特异性好，在任何一项分析的研究中都从未达到90%。因此，持续努力提高脉搏血氧饱和度测定筛查方法的疗效至关重要。
