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目的了解清华大学第一附属医院新生儿出生缺陷的发生、变化及转归情况。方法按照全国出生监测中心制定的监测方案,对该院2007年1月—2011年12月住院分娩的围生儿逐一筛查。结果该院共出生围生儿数7 616例,出生缺陷儿237例,平均出生缺陷发生率3.11%,出生缺陷儿死亡数28例,缺陷儿死亡率11.81%;围生儿死亡数86例,死亡率1.13%,前5位出生缺陷依次是先天性心脏病、外耳畸形、多指畸形、总唇裂(唇裂、腭裂、唇裂合并腭裂)、21-三体综合征,构成比分别为48.9%、11.0%、7.2%、5.1%以及4.3%。农村新生儿出生缺陷发生率为70.9%,明显高于城镇的29.1%;缺陷儿死亡率城镇为4.3%,农村为14.9%,2组比较,差异有统计学意义。结论出生缺陷的防治应以预防为主,广泛开展优生、优育健康教育,加强婚前保健、围生期保健,开展产前诊断和优生咨询,以降低出生缺陷发生率。
Objective To investigate the occurrence, changes and outcome of neonatal birth defects in the First Affiliated Hospital of Tsinghua University. Methods According to the monitoring plan developed by the National Birth Monitoring Center, the perinatal children admitted to hospital from January 2007 to December 2011 were screened one by one. Results A total of 7616 cases of perinatal children and 237 cases of birth defects were born. The average incidence of birth defects was 3.11%, the number of birth defects children was 28 and the incidence of defective children was 11.81%. The number of perinatal deaths was 86, The mortality rate was 1.13%. The first five birth defects were congenital heart disease, external ear deformity, multiple finger deformities, total cleft lip (cleft lip, cleft palate, cleft palate with cleft palate) and 21-trisomy syndrome with the proportions of 48.9% 11.0%, 7.2%, 5.1% and 4.3%. The incidence of birth defects in rural newborns was 70.9%, significantly higher than 29.1% of urban areas; the mortality rate of defective children was 4.3% in urban areas and 14.9% in rural areas. There was significant difference between the two groups. Conclusion The prevention and treatment of birth defects should be based on prevention. Health education for prenatal and prenatal education should be widely carried out. Prenuptial care and perinatal care should be strengthened. Prenatal diagnosis and prenatal counseling should be conducted to reduce the incidence of birth defects.