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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 understand the outcome of children with live birth defects. Methods A total of 306 children with live birth defects who were born in July 2007 to September 2008 and their parents lived in Haidian District of Beijing were investigated by telephone survey from 6 to 8 months after birth. . Results 306 cases of birth defects mainly congenital heart disease, multiple finger / toe, in addition to small ears and no ears of the outer ear deformity, testis did not drop, hypospadias, accounting for 75.16% of the total number of investigations. The follow-up outcomes at 6-8 months after childbirth in infants with birth defects mainly included 15 deaths (4.90%), 208 (67.97%) at least 1 visit to the hospital, and 76 (27.13%). Parents refused to acknowledge the child’s birth defects in 7 cases (2.29%). Conclusions Congenital heart disease is still the most important birth defect which affects infant mortality and health. The screening and diagnosis of birth defects should be improved, the diagnostic criteria of birth defects should be clarified, and the communication between doctors and parents of children with birth defects should be strengthened.