306例出生缺陷患儿追踪结局分析

Analysis of the outcome of 306 children born with birth defects.

目的了解活产出生缺陷患儿的结局。方法对306例2007年7月～2008年9月分娩且家长均居住在北京市海淀区的306例活产出生缺陷患儿,分娩6～8个月时通过电话调查方式询问出生缺陷患儿家长。结果 306例出生缺陷种类主要为先天性心脏病、多指/趾、除小耳和无耳的外耳畸形、睾丸未降、尿道下裂,占调查总数的75.16%。出生缺陷患儿分娩后6～8个月时的追踪结局主要包括:死亡15例(占4.90%),到医院复诊过至少1次的208例(占67.97%),未到医院复查的76例(占27.13%),家长拒绝承认孩子有出生缺陷的7例(占2.29%)。结论先天性心脏病仍然是影响婴儿死亡和健康的最主要的出生缺陷;应提高出生缺陷的筛查、诊断水平,明确出生缺陷诊断标准;加强医生与出生缺陷患儿家长的沟通。

Objective： To describe the outcome of children born with birth defects.Methods： Between July 2007 and September 2008,306 live born cases of birth defects were diagnosed and registered by the Beijing Birth Defects Monitoring network-a hospital based birth defects registry system.Their parents were called to assess their survival status from birth up to the age of 6~8 months.Results： The major birth defects types were congenital heart defects,polydactyly,congenital malformations of ear excluding absence of ear,undescended testicle,hypospadias,the total proportions of all was 75.16%.The proportions of all live born infants with birth defects,died at the end of the 6~8 months,having been to the hospital once at least,not having been to the hospital,not acknowledging the fact of infants＇ birth defects were 4.90%,67.97%,27.13%,and 2.29% respectively.Conclusions： Congenital heart disease make an important contribution to infant mortality and health.The level of screening and diagnosis of birth defects should be improved.The relationship of physician and parents of children born with birth defects should be strengthened.