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目的通过分析2012.10.1-2014.9.30北京地区确诊的孕13w-生后1岁内复杂先天性心脏病发生及婴儿期结局情况,为复杂先天性心脏病的防控提供相关信息及依据。方法运用描述性统计学方法回顾性分析北京市出生缺陷监测、婴儿死亡资料。结果 2013-2014年北京市孕13w-生后1岁先天性心脏病亚型监测数据显示,复杂先天性心脏病发病率1.72‰,其中发生顺位前三位为法洛氏四联症(0.41‰)、完全性大动脉转位(0.26‰)、右室双出口(0.21‰);不同类型复杂先心病产前诊断比例及婴儿期病死率相差悬殊,产前诊断比例以单心室最高(100%),主动脉狭窄最低(59.14%),婴儿存活构成比以左心发育不全(2.33%)最低,主动脉狭窄(52.69%)最高。孤立CCHD、合并其他非染色体异常/非综合征畸形、合并染色体异常、合并临床综合征的构成比分别为83.25%、12.53%、3.97%、0.25%。结论北京市建立的先天性心脏病亚型监测系统,对科学评估不同类型先天性心脏病二级、三级预防效果、探索下一步工作思路提供数据支持;加强复杂先天性心脏病遗传学病因的排查,对评估本次先天性心脏病患儿预后,是否适宜手术治疗,评估再发风险指导具有重要意义;为提供更科学、准确、个体化的咨询指导,建议从传统的产科医师产前咨询模式拓展为出生缺陷超声-遗传-产科-儿科多学科联合会诊模式。
Objective To analyze the incidence of complicated congenital heart disease (CHD) and infant outcome in the first 13-year-old pregnant women who have been diagnosed in Beijing from October 10, 2014 to September 14, 2012, and provide relevant information and basis for the prevention and control of complex congenital heart disease. Methods Descriptive statistics were used to retrospectively analyze the birth defects monitoring and infant mortality data in Beijing. Results In 2013-2014, the incidence of congenital heart disease complicated by congenital heart disease was 1.72 ‰ in Beijing. The data showed that the top three occurrences of tetralogy of Fallot (0.41 ‰), complete aortic transposition (0.26 ‰) and double outlet to the right ventricle (0.21 ‰). The prenatal diagnostic rates and infantile mortality rates of different types of complicated congenital heart disease were significantly different. The prenatal diagnosis rate was the highest in single ventricle (100% ), The lowest aortic stenosis (59.14%), the lowest survival rate of infants with left atrial hypoplasia (2.33%), and the highest aortic stenosis (52.69%). Isolated CCHD, combined with other non-chromosomal abnormalities / non-syndromic deformities, combined with chromosomal abnormalities, combined with clinical syndrome constituent ratios were 83.25%, 12.53%, 3.97%, 0.25%. Conclusion The congenital heart disease subtype monitoring system established in Beijing provides data support for scientifically evaluating the secondary and tertiary prevention effects of different types of congenital heart disease and exploring the next working ideas. It is necessary to strengthen the genetic causes of complex congenital heart disease To investigate the prognosis of children with congenital heart disease, whether it is suitable for surgical treatment, assessment of the risk of recurrence guidance is of great significance; to provide more scientific, accurate and personalized counseling, it is recommended from the traditional obstetrician prenatal counseling Mode Expanded to Birth Defect Ultrasound - Genetics - Obstetrics - Pediatrics Multidisciplinary Joint Mode of Consultation.