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目的 评估危重先天性心脏病(CCHD)新生儿产科医院出院前的漏诊情况,为新生儿早期开展CCHD筛查提供依据.方法 回顾性分析2012年1月1日至2015年12月31日在复旦大学附属儿科医院首次诊治的CCHD患儿.将所有导管依赖型先心病和部分需要在婴儿早期治疗的发绀型先天性心脏病纳入分析对象.分类变量(不同类型CCHD病种的检出率)的组间比较用x2检验.结果 共诊治CCHD患儿1 036例,产前超声检出率14.04％(122/869).52.51％(544/1 036)的CCHD患儿在产科医院出院前漏诊,14.09％ (146/1 036)在生后42 d的常规查体也被漏诊.整体漏诊率最高的5类CCHD为重症主动脉缩窄(75.00％,33/44)、肺静脉异位引流(61.54％,120/195)、合并室间隔缺损的肺动脉闭锁(61.45％,102/166)、单心室(60.10％,125/208)和重症主动脉瓣狭窄(52.94％,9/17).在出院前确诊的对象中,54.88％ (270/492)因症状或产前检查发现,45.12％(222/492)因查体发现.在出院前无症状且无产前诊断的对象中,漏诊率达71.02％ (544/766),漏诊率最高的5类CCHD为单心室(82.78％,125/151)、主动脉弓离断(81.82％,18/22)、室间隔完整的大动脉转位(79.63％,43/54)、合并室间隔缺损的肺动脉闭锁(79.07％,102/129)、重度主动脉缩窄(78.57％,33/42).导管依赖型CCHD相比非导管依赖CCHD在出院前更容易出现症状,但两者的检出率差异无统计学意义(P＞0.05).结论 我国CCHD新生儿在产科医院出院前漏诊率高,提示有必要开展常规新生儿先天性心脏病筛查,从而给予及时合理的诊治.

Objective Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables (detection rate of different types of CCHD).Method A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015.For comparing with the previously reported undiagnosed rate of CCHD at discharge,CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery.Result A total of 1 036 infants with CCHD were included.The prenatal detection rate of CCHD was 14.04％ (122/869).As a whole,52.51％ (544/1 036) of CCHD cases were undiagnosed at discharge,and 14.09％ (146/1 036) were still missed after 6-week examination.The diagnoses most likely to be unrecognized at discharge included critical coarctation of the aorta (COA) (75.00％),total anomalous pulmonary venous connection (61.54％),pulmonary atresia (PA) with ventricle septal defect (VSD) (61.45％),single ventricle (SV) (60.10％) and critical aortic stenosis (52.94％).Among newborns diagnosed prior to discharge,54.88％ (270/492) due to symptom or prenatal uhrasonographic diagnosis,45.12％ (222/492) due to abnormal findings in routine examination.Among asymptomatic CCHD cases without prenatal diagnosis,71.02％ (544/766) were undiagnosed and the most common delayed diagnosis was SV (82.78％),interrupted aortic arch (81.82％),transposition of the great arteries with intact ventricular septum (79.63％),PA/VSD (79.07％),and critical COA (78.57％).Newborns with DDC were more likely to develop symptoms within the first few days after birth,in comparison with non-DDC cases.However,their detection rates were close to each other.Conclusion The rate of misdiagnosis of CCHD before discharge from maternity hospitals is high in China,indicates the importance of implementation of CCHD screening in Chinese maternity hospitals,so as to give timely diagnosis and proper treatment.