摘要
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,CHD的“早发现、早诊断、早治疗”成为热点研究问题。目的在海南省建立与应用新生儿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。方法按照国家卫生健康委员会颁布的《新生儿先天性心脏病筛查项目工作方案》要求,回顾相关文献,建立新生儿CHD筛查-诊断-评估适宜技术体系:在海南省17个市(县)所有助产机构及当地新生儿科或新生儿重症监护病房(NICU),由筛查人员采用双指标联合法,即心脏杂音听诊联合经皮脉搏血氧饱和度(POX)测定法,于活产新生儿出生后6~72h对其进行CHD筛查。心脏杂音听诊和/或POX测定结果呈阳性为筛查阳性。由经海南省卫生健康委员会认证的31家诊断机构对筛查阳性的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,并建议临床随访(3~12个月)。通过新生儿CHD筛查工作信息管理系统对网络化筛查、诊断、评估与治疗数据进行填报、上传及管理。2020-01-01至2021-12-31在海南省17个市(县)范围内评价此技术的运行效果。结果2020-01-01至2021-12-31,海南省活产新生儿数为206761名,204442名活产新生儿参加了本筛查项目,整体筛查率为98.88%;CHD筛查阳性患儿5847名,筛查阳性率为2.86%(5847/204442)。经超声心动图检查,共527名被确诊为CHD患儿,CHD患病率为2.58‰(527/204442),其中房间隔缺损为最常见的CHD病变[38.14%(201/527)];非显著型CHD患儿291名(55.22%),显著型CHD患儿142名(26.94%),严重型CHD患儿88名(16.70%),危重型CHD患儿6名(1.14%)。心脏杂音听诊法、POX测定法和双指标联合法在新生儿CHD筛查中的灵敏度分别为67.93%、37.00%和93.35%,特异度分别为98.07%、99.28%和97.30%。两项指标(心脏杂音听诊结果、POX测定结果)均为阳性的新生儿与单一指标为阳性的患儿相比,为重症CHD(包括严重型与危重型)患儿的可能性更高(P均<0.001)。94名重症CHD患儿均得到及时治疗。共有4名CHD患儿死亡,均为重症CHD患儿,0~1岁儿童CHD的标准化死亡率为1.96/10万,重症CHD患儿的病死率为4.26%(4/94)。结论双指标联合法在新生儿CHD筛查中具有无创、简便、易于操作及可靠的特点,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CHD的及时诊治,尤其是重症CHD,并有助于降低CHD患儿死亡率,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,which is the leading cause of death in children.However,the current situation of delayed diagnosis of CHD is not optimistic,making the early detection,diagnosis and treatment of children with CHD a hot research topic.Objective To establish and apply the appropriate technology system for screening,diagnosis and evaluation of CHD in neonates in Hainan Province,evaluate operational effect of the technology for its further promotion.Methods In accordance with the requirements of the Program of Neonatal CHD Screening Project issued by the National Health Commission,the relevant literatures were reviewed to establish the appropriate technology system for screening,diagnosis and evaluation of CHD in neonates,in which screening staff perform CHD screening on liveborn neonates within 6-72 hours after birth using integration of cardiac murmur auscultation and transcutaneous pulse oximetry(POX),in all midwifery institutions of 17 cities and counties in Hainan province,as well as the local neonatology departments or neonatal intensive care units(NICUs).Positive results of heart murmur auscultation and/or POX were considered positive for screening.31 diagnostic facilities authorized by Hainan Provincial Health Commission were responsible for the echocardiography examinations for liveborn neonates with positive screening results.The qualified cardiovascular physicians and cardiac surgeons in the 6 certified tertiary hospitals reviewed the diagnosis results and made necessary re-evaluations,suggested or implemented medical intervention and proposed suggestions on clinical follow-up(3 to 12 months)according to the conditions.Screening,diagnosis,evaluation and treatment data were filled,uploaded and managed online through the neonatal CHD screening information management network.The operational effectiveness of this appropriate health technology was evaluated in 17 cities(counties)in Hainan Province from 2020-01-01 to 2021-12-31.Results From 2020-01-01 to 2021-12-31,the count of liveborn neonates in Hainan Province was 206 761,204 442 of them were included in the screening program with an overall screening rate of 98.88% and screen-positive rate of 2.86%(5 847/204 442).A total of 527 cases diagnosed with CHD by echocardiography,showing a CHD prevalence of 2.58‰(527/204 442),and atrial septal defect as the most common CHD lesion with a composition ratio of 38.14%(201/527),including 291 insignificant type CHD cases(55.22%),142 significant type CHD cases(26.94%),88 serious type CHD cases(16.70%)and 6 critical type CHD cases(1.14%).The sensitivity of auscultation,POX and combination of 2 indicators for CHD screening was 67.93%,37.00% and 93.35%,respectively,and the specificity was 98.07%,99.28% and 97.30%,respectively.Neonates with positive results for both indicators(heart murmur auscultation and POX)were more likely to suffer from severe CHD(severe and critical types)than those with positive results for a single indicator(P<0.001).A total of 94 cases with severe CHD were treated promptly.A total of 4 cases with severe CHD died,the standardized mortality of neonates aged 0-1 year with CHD was 1.96/100 000,the mortality rate of neonates with severe CHD was 4.26%(4/94).Conclusion The combination of two indicators(heart murmur auscultation and POX)for CHD screening is favorable to promotion for the characteristics of noninvasion,simplicity,ease of operation and reliability.The establishment of appropriate technology system for screening,diagnosis,and evaluation of neonatal CHD is of great significance for its advantages in the timely diagnosing and treatment of CHD,especially in severe CHD,and reduction of mortality in neonates with CHD.
作者
张笃飞
陈仁伟
莫泽来
羊玲
王亚洲
王海凡
ZHANG Dufei;CHEN Renwei;MO Zelai;YANG Ling;WANG Yazhou;WANG Haifan(Department of Cardiovascular Medicine,Hainan Women and Children's Medical Center/Hainan Provincial Children's Hospital,Haikou 570000,China;Department of Cardiac Surgery,Hainan Women and Children's Medical Center/Hainan Provincial Children's Hospital,Haikou 570000,China;Department of Ultrasound Medicine,Hainan Women and Children's Medical Center/Hainan Provincial Children's Hospital,Haikou 570000,China;Department of Neonatology,Hainan Women and Children's Medical Center/Hainan Provincial Children's Hospital,Haikou 570000,China)
出处
《中国全科医学》
CAS
北大核心
2023年第25期3170-3177,共8页
Chinese General Practice
基金
2019年海南省基础与应用基础研究计划(自然科学领域)高层次人才项目(2019RC392)。