【摘要】 目的 分析异常生育史与遗传性家族史、孕期危险因素暴露的多重对应关系，为进一步完善出生缺陷监测系统和降低出生缺陷发生率提供新的科学依据。方法 对2003至2015年西安市各级开设产科的医疗保健机构分娩的孕28周至生后7 d的围产儿进行出生缺陷监测，并收集相关资料。结果 共监测围产儿1 236 937例，其中出生缺陷患儿10 619例，平均出生缺陷发生率为0.86%(0.70%～1.15%)。多重对应分析显示生育出生缺陷患儿(既往生育1个或2个出生缺陷患儿)与自然流产史、遗传性家族史、有毒有害物质接触史有关，既往生育≥3个出生缺陷患儿与遗传性家族史接近相同区域且距离更近，关系更密切。有自然流产史产妇(257/10 619)再次生育出生缺陷患儿类型依次为先天性心脏病、多指(趾)、神经管缺陷、先天性脑积水、唇裂合并腭裂、单纯唇裂；生育过出生缺陷患儿的产妇(135/10 619)再次生育出生缺陷患儿类型依次为唇裂合并腭裂、无脑畸形、脑积水、神经管缺陷、唇裂、马蹄内翻足。结论 异常生育史与孕期危险因素暴露和遗传性家族史均相关，既往生育≥3个出生缺陷患儿与遗传性家族史关系更密切。更多还原

【Abstract】 Objective To investigate the multiple correspondence of genetic and environmental risk factors with abnormal birth history and provide a scientific basis for improving the birth defects surveillance system and reducing the incidence of birth defects.Methods Data were collected from all the perinatal infants from 28-week-old fetuses to 7-day-old infants born in all the hospitals with obstetrical department in Xi’an from 2003 to 2015.Results A total of 1 236 937 perinatal infants were surveyed, including 10 619 with birth defects.The average incidence rate of birth defects was 0.86%(0.70%-1.15%).Multiple correspondence analysis showed that the women who had had 1 or 2 children with birth defects were associated with the history of spontaneous abortion, family history of birth defects, and history of exposure to toxic and harmful substances.The women who had had 3 or more children with birth defects showed stronger association with family history of birth defects.The birth defects in women with history of spontaneous abortion(257/10 619) was ranked in the order of congenital heart disease, polydactyly, neural tube defects, congenital hydrocephalus, cleft lip with cleft palate, and simple cleft lip.The birth defects in women who had given birth to children with birth defects(135/10 619) followed the order of cleft lip with cleft palate, anencephaly, hydrocephalus, neural tube defects, cleft lip, and talipes equinovarus.Conclusions Abnormal birth history is associated with family history of birth defects and history of exposure to environmental risk factors.Giving birth to three or more children with birth defects is highly correlated with the family history of birth defects.更多还原