海南省17市县出生后6至72小时新生儿先天性心脏病筛查-诊断-评估适宜技术的应用
ppropriate technology for screening, diagnosis and evaluation of congenital heart disease in neonates after birth from 6 to 72 hours in 17 cities and counties in Hainan Province
背景 先天性心脏病（CHD）为全球主要的出生缺陷类型之一，是导致儿童死亡的主要原因，然而CHD的延迟诊断现状不容乐观，早发现、早诊断、早治疗儿童CHD成为热点研究问题。目的 通过在海南建立与应用新生儿CHD筛查-诊断-评估适宜技术体系，评价此技术的运行效果，为进一步推广此技术提供依据。方法 在海南省17个市县所有助产机构，及当地的新生儿科或NICU，筛查人员采用双指标即心脏听诊和经皮脉搏血氧饱和度（POX）对出生后6至72小时的活产新生儿进行筛查。1项以上指标阳性者为筛查阳性。由海南省卫生健康委员会认证的31家诊断机构对筛查阳性活产新生儿进行超声心动图诊断。经认证的6家三级甲等医院中具备相应资质的儿童心血管内、外科医生对诊断结果进行审核和必要的再评估，根据病情提出相应的医疗干预建议，或实施治疗。筛查、诊断、评估与治疗的数据通过新生儿先天性心脏病筛查工作信息管理系统进行网络化填报、上传及管理。结果 2020 年1月1日至 2021 年12月31日海南省活产新生儿数为206761例，204442例活产新生儿参加本项目的CHD筛查，整体筛查率为98.87%（204442/206761），筛查阳性5847例，筛查阳性率2.86%（5847/204442）；经超声心动图检查共确诊为CHD 527 例，CHD 的患病率为2.58‰（527/204442），其中房间隔缺损为最常见的CHD病变，其构成比为38.14%。非显著型CHD291例，占55.22%；显著型CHD142例，占26.94%；严重型CHD88例，占16.70 %；危重型CHD 6例，占1.14 %。心脏听诊、POX和双指标联合检测出CHD的敏感度分别为67.93%、37%和93.35%，特异度分别为98.07%、99.28%和97.3%；重症CHD（严重型与危重型）初筛时出现双指标均阳性的比率明显高于单一指标阳性者，差异有统计学意义（χ2=13.053，P=0.001）；所有诊断为CHD的患儿均接受了评估，94例重症CHD患儿均得到及时治疗，死亡4例，0-1岁儿童CHD的标准化死亡率为1.93/10万（4/206761），重症CHD的病死率为4.26%（4/94）。结论 双指标法筛查新生儿CHD无创、简便、易操作及可靠，因此利于推广。建立新生儿CHD筛查-诊断-评估适宜技术体系有利于及时诊治CHD，尤其是及时救治重症CHD，利于降低死亡率，故此适宜技术体系的建立有着重要的意义。
Background Congenital heart disease (CHD) is one of the major types of birth defects in the world,and it is one of the the main causes of death in children. However, the status quo of delayed diagnosis of CHD is not optimistic,and early detection,diagnosis and treatment of children with CHD has become a hot research issue.Objective Via establishing and applying an appropriate technology system for screening-diagnosis-evaluation of neonatal CHD in Hainan,the operation effects of this technology system wereevaluated to provide basis for a further promotion.Methods At all delivery institutions of 17 cities and counties in Hainan province,as well as the local neonatology departments or NICUs, the screening staff use 2 indicators,namely cardiac auscultation and pulse oximetry(POX), to screen the live newborns within 6~72 hoursafter birth.Anyabnomal results of the 2 indicators were considered to be screened-positive.AS the diagnosis institutions authorized by Hainan Provincial Health Commission,31 hospitals were responsible for the echocardiography examinations for the screened-positive live newborns.The qualified cardiovascular physicians and cardiac surgeons of the six certifiedtertiary hospitals checked the diagnosis results and made necessary re-evaluations,and then made medical intervention suggestions according to the conditions,or implement treatments.Data of screening,diagnosis,evaluation and treatment were filled in,uploaded and managed online through the neonatal CHD screening informations management network. Results From January 1,2020 to December 31,2021,the count of live newborns in Hainan province was 206761.Among these,204442 live newborns participated in this screening project,providing an overall screening rate of 98.87%(204442/206761).5847 cases were screened-positive,providing ascreened-positive rate of 2.86%(5847/204442).A total of 527 cases with CHD were confirmed by echocardiography examinations,providing a CHD prevalence of 2.58‰(527/204442),and atrial septal defect was the most common CHD lesion with a composition ratio of 38.14%.The proportion of insignificant,significant,seriousand critical CHD was55.22%(291/527),26.94%(142/527),16.70%(88/527) and 1.14%(6/527),respectly.The sensitivity of auscultation,POX and 2 indicators combination for CHD detection was 67.93%,37% and 93.35%,respectively,and the specificity was 98.07%,99.28% and 97.3%,respectively.At the initial screening,the ratio of both positive in 2 screening indicators of children with severe CHD(serious and critical CHD) was higher than that of positive in single indicator,the difference was statistically significant(χ2=13.053,P=0.001).All children with CHD were evaluated,94 cases of children with severe CHD were treated promptly.4 casesof children with severe CHD died,the standardized mortality of children aged 0-1 years with CHD was 1.93/100,000 (4/206,761),and the case fatality rate of children with severe CHD was 4.26%(4/94). Conclusion Two indicatorscombination for CHD screening is non-invasive,simple,easy to operate and reliable,so that it is worth to be promoted.It is of great significance to establish an appropriate technology system for screening-diagnosis-evaluation of neonatal CHD,for which is conducive to timely diagnose and treat the children with CHD,especially the children with severe CHD,so as to reduce mortality.
张笃飞, 陈仁伟, 莫泽来, 羊玲, 王亚洲, 王海凡
儿科学预防医学临床医学
新生儿筛查先天性心脏病经皮血氧饱和度心脏听诊超声心动图
张笃飞, 陈仁伟, 莫泽来, 羊玲, 王亚洲, 王海凡.海南省17市县出生后6至72小时新生儿先天性心脏病筛查-诊断-评估适宜技术的应用[EB/OL].(2022-10-17)[2025-08-02].https://chinaxiv.org/abs/202210.00126.点此复制
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