Abstract: Objective To investigate the prevalence and risk factors of neonatal congenital heart disease(CHD) in Hainan Province, and to obtain epidemiological information on neonatal CHD, so as to provide support for the establishment of a neonatal CHD prevention and treatment programme in Hainan Province. Methods A multicenter, multiple-ethnic, cross-sectional screening study was performed. A total of 117 005 neonates consecutively born at delivery institutions in 17 urban and rural regions in Hainan from January 1st to December 31st, 2020 were enrolled. Cases of CHD were identified using transcutaneous pulse oximetry(POX) combined with cardiac auscultation screening, echocardiography and follow-up. Results A total of 572 newborns(50.7% male) were diagnosed with CHD. The overall prevalence of CHD among live births in Hainan Province was 4.89‰, with the prevalence of insignificant, significant, severe and critical CHD being 2.13‰、2.25‰、0.28‰ and 0.23‰, respectively. The most common CHD is atrial septal defect(ASD) with a prevalence rate of 1.889‰. The proportion of preterm infants with significant CHD and critical CHD was significantly higher compared with newborns without CHD(χ²=4.088, 4.923, P<0.05), and the proportion of low birth weight infants with severe CHD and critical CHD was significantly higher compared with newborns without CHD(χ²＝24.284, 110.556, P<0.001). Among preterm infants with CHD, the total proportion of preterm infants with CHD at gestational age of 28 to 32 weeks was 60.3%(47/78), which was higher than that of preterm infants at gestational age of 33 to 36 weeks(39.7%(31/78)(χ² =6.564, P<0.05). Among low birth weight children with CHD, the total proportion of those with birth weight of 1 500 -<2 000 g was 63.0%(29/46), higher than that of those with birth weight of 2 000 -<2 500 g(37.0%, 17/46)(χ²=6.261, P<0.05). The prevalence of CHD was significantly higher in some other ethnic groups(Miao, Hani and Yi) compared to the Chinese Han population(χ²=5.327, 8.233, 8.821, P<0.05). Correlation analysis showed that the prevalence of CHD in newborns was positively correlated with altitude(r=0.513, P<0.05). Conclusions POX combined with cardiac auscultation is suitable for CHD screening of newborns in remote areas. Premature birth, low birth weight and high altitudes are risk factors for CHD, which should be paid attention to during CHD screening.

Key words: congenital heart disease, prevalence, ethnic group, neonates

摘要： 目的 调查海南省新生儿先天性心脏病(CHD)的患病率及危险因素,获取海南省新生儿CHD的流行病学信息,为海南省建立新生儿CHD防治计划提供支持。方法 本研究采用多中心、多民族、横断面筛查研究,纳入2020年1月1日—12月31日在海南省17个城乡地区分娩机构连续出生的117 005例新生儿。采用经皮脉搏血氧饱和度(POX)联合心脏听诊筛查、超声心动图检查及随访等方法确定CHD病例。结果 共有572例新生儿(男性50.7%)被诊断为CHD,海南省活产儿的总体CHD患病率为4.89‰,不显著、显著、严重和危重型CHD患病率分别为2.13‰、2.25‰、0.28‰和0.23‰。最常见的CHD是房间隔缺损(ASD),患病率为1.889‰。显著型CHD和危重型CHD中早产儿占比明显高于无CHD的新生儿(χ²=4.088、4.923,P＜0.05);严重型CHD和危重型CHD中低出生体重婴儿的比例明显高于无CHD的新生儿(χ²=24.284、110.556,P＜0.001)。在患CHD的早产儿中,胎龄28~32周早产儿的CHD总占比为60.3%(47/78),高于胎龄33～36周早产儿的39.7%(31/78)(χ²=6.564,P＜0.05);在患CHD的低出生体重儿中,出生体重 1 500～<2 000 g者患CHD的总占比为63.0%(29/46),高于出生体重2 000～<2 500 g者的37.0%(17/46)(χ²=6.261,P＜0.05)。与汉族人口相比,其他一些民族(苗族、哈尼族和彝族)的CHD患病率明显较高(χ²=5.327、8.233、8.821,P＜0.05)。相关性分析显示,新生儿CHD的患病率与海拔高度呈正相关(r=0.513,P＜0.05)。结论 POX联合心脏听诊适用于偏远地区新生儿CHD筛查。早产、低出生体重和海拔升高是CHD的危险因素,在CHD筛查时应重点关注。

关键词: 先天性心脏病, 患病率, 民族, 新生儿