中国先天性成骨不全围产儿特征分析

Analysis on characteristics of perinatal osteogenesis imperfecta in China

目的 了解我国先天性成骨不全围产儿的发生情况及特征。方法 在 1987～ 1992年期间 ,采用以医院为单位的整群抽样方法 ,对全国 5 0 0多所医院孕 2 8周至产后 7天的围产儿进行监测。结果 5年共监测围产儿44 896 92例 ,先天性成骨不全围产儿 133例 ,发生率为 0 30 /万 ,乡村的发生率为 0 2 6 /万 ,城镇为 0 32 /万 ;男性的发生率为 0 2 7/万 ,女性为 0 2 9/万 ,差异均无显著性 (P >0 0 5 )。先天性成骨不全围产儿有 48 1%为低体重儿 ,围产期病死率为 6 2 % ,产前诊断率为 14 3 %。 76 %先天性成骨不全为多发性畸形 ,以合并骨骼系统的畸形多见。结论 我国先天性成骨不全的发生率与国外一些国家的相似 ,其围产畸形儿病死率较高 ,产前诊断率低 。

Objective A descriptive study was conducted to investigate the perinatal characteristics of osteogenesis imperfecta in China.Methods From 1987 to 1992,data were collected from more than 500 hospital-based units involved in a monitoring program and were analyzed by the National Center for Birth Defects Monitoring.The monitored subjects were the hospitalized births from 28 weeks of gestation to a period within 7 days after delivery.Results There were 133 cases of osteogenesis imperfecta in 4?489?692 births with an incidence of 0 30/10?000.The incidence of osteogenesis imperfecta in the rural and urban areas was 0 26/10?000,0 32/10?000,respectively,and 0 27/10?000 in male,and 0 29/10?000 in female,respectively.There were 48 1% low-birth-weight cases in the diseased infants.The perinatal mortality was as high as 62%,but the rate of prenatal diagnosis as low was as 14 3%.The associated abnormalities accounted for 76% of the cases,most of which involved the skeletal systems.Conclusion The incidence of osteogenesis imperfecta in China is similar to that of other countries.The perinatal mortality of this defect is high,but its rate of prenatal diagnosis is low.The management of these perinatals should be improved,so longer lifespan can be expected.