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目的对河北省2003年1月1日至2008年12月31日出生的0～6岁中枢神经系统(CNS)缺陷儿童进行调查和相关因素分析。方法采取整群回顾性调查的方式,详细记录患儿的出生地点、出生日期、性别、孩次、父母年龄及可能的危险因素。结果全省共调查0～6岁儿童4 611 808名,其中发现CNS缺陷儿9498例,总发生率为21.42/万。2003年至2006年CNS缺陷发生率基本保持较高水平,各年份发生率均接近或高于6年平均水平21.42/万(P>0.01);2007年至2008年,CNS缺陷发生率呈下降趋势,2年的发生率均明显低于6年平均水平21.42/万(P<0.001)。从全省CNS缺陷构成看,脑瘫占比最大,达64.59%,其次是先天性智力低下,占24.59%,神经管畸形占比最低,为10.45%。对9498例0～6岁儿童CNS缺陷进行分析显示:与父母一方或双方有遗传病、家族疾病史有关的为934例,占9.83%,与母亲孕期不良因素(包括病毒微生物感染、感冒、接触有毒有害物、污染物、服药、营养、不良妊娠史、年龄因素等)有关的为2164例,占22.78%,与父亲因素(包括污染及毒害物接触史、非遗传性疾病等)有关的为331例,占3.48%,与出生因素(包括早产、缺氧、产伤、溶血、多胎等)有关的共2166例,占22.80%,不明原因或其他因素的病例为3903例,占41.09%。结论河北省出生儿CNS缺陷有下降的趋势。加强孕前、孕期保健、做好优生遗传学咨询与指导、有针对性地开展产前诊断和筛查及提高高危妊娠者检测率是减少CNS缺陷特别是神经管畸形、脑瘫、智力低下患儿出生的有效措施。
Objective To investigate the incidence of CNS-deficient children aged 0 ~ 6 years who were born from January 1, 2003 to December 31, 2008 in Hebei Province and analyze the related factors. Methods A cluster retrospective survey was conducted to record the place of birth, date of birth, sex, number of children, parental age and possible risk factors. Results A total of 4 611 808 children aged 0-6 years were investigated in the province. Among them, 9 498 children with CNS deficiency were found, with a total incidence of 21.42 per 10,000. The incidence of CNS defects remained relatively high from 2003 to 2006, and the incidence of CNS defects in each year was close to or higher than the 6-year average of 21.42 / million (P> 0.01). From 2007 to 2008, the incidence of CNS defects showed a downward trend , The incidence of 2-year were significantly lower than the 6-year average of 21.42 / million (P <0.001). According to the composition of CNS defects in the province, the proportion of cerebral palsy is the largest, accounting for 64.59%, followed by congenital mental retardation, accounting for 24.59%. The lowest proportion of neural tube defects is 10.45%. Analysis of 9498 children aged 0-6 years with CNS defects showed that 934 cases (9.83%) were related to one or both parents’ genetic diseases and familial diseases, which was related to the negative factors of pregnancy during pregnancy (including viral microbiological infection, cold, contact 2164 cases, accounting for 22.78%, related to dad’s factors (including the history of exposure to pollution and poisonous substances, non-genetic diseases, etc.), which were related to toxic and harmful substances, pollutants, medication, nutrition, adverse pregnancy history, 331 cases, accounting for 3.48%. A total of 2166 cases were related to birth factors (including premature birth, hypoxia, birth trauma, hemolysis and multiple births), accounting for 22.80%. There were 3903 cases (41.09%) of unknown or other factors. Conclusions The birth defects CNS defects in Hebei Province have a downward trend. To strengthen preconception and prenatal care, make good genetic counseling and guidance, prenatal diagnosis and screening targeted and improve the detection rate of high-risk pregnancy is to reduce CNS defects, especially neural tube defects, cerebral palsy, mental retardation in children born Effective measures.