湖北省主要出生缺陷的流行现状及影响因素研究
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摘要
研究目的
     掌握湖北省主要出生缺陷的流行趋势及分布特点,分析主要出生缺陷的影响因素,了解人群对出生缺陷的认识,提出预防出生缺陷的适宜措施和干预模式,促进出生人口素质的提高。
     研究方法
     1、调查方法
     (1)从湖北省妇幼保健院监测办公室获取湖北省2001~2009年出生缺陷监测信息资料,掌握出生缺陷流行状况及主要出生缺陷发生情况。
     (2)采用1:1病例对照研究的方法,选取襄樊市、十堰市的108例唇腭裂患儿及其父母及正常对照组儿童及父母,利用自行设计、经过专家讨论和预调查修改完善的调查表对两组调查对象进行面对面问卷调查,了解其一般情况、个人行为方式、妊娠期情况、环境危险因素暴露、出生缺陷相关知识及增补叶酸情况等,并对有家系遗传的患儿绘制家系遗传图。
     (3)采用定性研究方法对调查地区出生缺陷防治工作主管医务人员和领导进行访谈,内容包括该地区出生缺陷儿童的发生情况及种类分布,该地区开展出生缺陷早期干预的情况及需要改进的措施等。
     2、统计方法
     数据经检查核对无误后用Excel 2007输入计算机建立数据库,采用SPSS 16.0进行统计分析,分析方法包括描述性分析、χ2检验、配对,检验、配对MecNemar检验、单因素Cox回归、多因素条件logistic回归等。
     研究结果
     1、湖北省出生缺陷监测资料分析
     2001-2009年湖北省医院监测的围产儿出生缺陷总发生率为123.6/万,处于较高水平,且呈逐年上升趋势;农村围产儿出生缺陷总发生率为140.1/万,略高于城镇出生缺陷总发生率137.1/万,但两者差异无统计学意义(χ2=0.32,P=0.57);男童出生缺陷总发生率为147.1/万,明显高于女童出生缺陷发生率127.9/万,两者差异有统计学意义(χ2=14.11,P<0.01);不同季节出生缺陷发生率有差别,以夏季最高(157.9/万),冬季最低(126.8/万);35岁以上年龄组妇女其后代出生缺陷率最高,其次是20岁以下年龄组妇女,差异具有统计学意义(χ2=13.43,P=0.01);总唇裂长期居出生缺陷顺位首位,发生率呈逐年上升趋势。
     2、唇腭裂影响因素分析
     单因素分析结果显示,病例组和对照组在父亲家族病史、父亲生殖系统疾病史、父亲危险因素暴露史、母亲危险因素暴露史、母亲异常孕产史、母亲孕早期患病史、孕早期情绪不良史、孕早期性生活史、孕早期每天吃蔬菜水果总量这几个因素间差异有统计学意义(P<0.05)。
     多因素条件logistic回归分析发现,父系家族病史、父亲危险因素暴露史、母亲异常孕产史、母亲孕早期患病史、孕早期情绪紧张史、孕早期每天吃蔬菜水果总量、孕早期性生活史进入回归模型。其中,父亲暴露于危险因素、母亲异常孕产史、母亲孕早期患病、孕早期情绪不良、孕早期性生活为唇腭裂的危险因素,孕早期每天吃蔬菜水果多为唇腭裂的保护性因素(P<0.05),父系家族史是总唇裂的可疑危险因素。
     3、出生缺陷知识了解情况及访谈结果
     育龄夫妇对出生缺陷相关知识的了解较少,也缺乏相应的预防措施。调查地区部分医院出生缺陷产前诊断设备落后,也较少开展出生缺陷的早期干预活动,且因为人口流动性较大,群众孕前、孕期保健意识不够,主动获取知识的意愿较小,即使开展干预活动也没有达到预期的效果。
     4、家系遗传情况
     调查中发现有4例患儿存在家系遗传现象,均为旁系遗传。3例为男孩,1例为女孩,均为单胎,父母无缺陷,也非近亲婚配。
     研究结论
     1、湖北省出生缺陷发生率总体较高,且上升趋势明显,发生率存在性别、季节和母亲年龄差异;缺陷顺位首位为唇腭裂。
     2、唇腭裂的影响因素为父亲环境危险因素暴露史、母亲异常孕产史、母亲孕早期患病史、孕早期情绪不良史、孕早期性生活史、孕早期每天吃蔬菜水果总量。
     3、调查地区育龄夫妇对出生缺陷相关知识的了解较少,也缺乏相应的预防措施。今后应大力提高育龄夫妇对出生缺陷的认知,并促进其采取相关预防措施。
     4、唇腭裂存在家系遗传现象。
Objective
     To grasp the epidemic trends and distribution characteristics of birth defects in Hubei Province, analyze the risk factors of birth defects, and understand the public's recognition to birth defects, so as to propose appropriate preventive measures and explore integrated intervention model of birth defects, in order to improve the quality of the population born in China.
     Methods
     1. Survey methods
     (1) The birth defects surveillance data of Hubei province was obtained from the Hubei Provincial Maternal and Child Health Hospital to grasp the prevalence of total birth defects and the occurence of major birth defects.
     (2) A 1:1 pairwized case-control study method was applied to select 108 children with cleft lip with or without cleft palate (CL/P) as well as 108 healthy chilren without any congenital malformations. By using the self-made questionnaire. which was discussed and revised after the pilot survey, standardized demographic and periconceptional exposure data were collected from their parents
     (3) Qualitative research method was used to interview the local leaders in charge of prevention and control of birth defects, including the occurence information and species distribution of birth defects in this area and the need for improvement of intervention measures, etc.
     2.Statistical methods
     After check and verification, the data was input into the computer to establish a database with Excel 2007 and then made statistical analysis with SPSS 16.0, including descriptive analysis,χ2 test, paired t test, paired MecNemar test, univariate Cox regression analysis, multivariate conditional logistic regression analysis, etc.
     Results
     1. Analysis on birth defects surveillance data of Hubei province
     The overall prevalence of birth defects in Hubei province was 12.36%o, which was at a higher level and showed an upward trend from 2001 to 2009. The average incidence of birth defects among rural area was 14.01‰, higher than that of urban area (13.71‰), but the difference of which was not statistically significant (χ2=0.32, P=0.57); The average incidence of birth defects of male was 14.71‰, obviously higher than that of female (12.97‰), which had statistical significance (χ2=14.11, P<0.01); There was seasonal variation in the incidence of birth defects, ranked as summer first (15.79%o) and winter last (12.68‰); In terms of incidence of birth defects among the offspring, the highest was in the group of women aged more than 35 years, followed by the group of less than 20 years, the difference of which was statistically significant (χ2=13.43, P=0.01); The CL/P had been ranked as the first of all types of birth defects for a long time, the incidence of which increased year by year.
     2. Study on influential factors of CL/P
     Univariate analysis showed that the differences of case group and control group in these factors, including paternal family history, paternal reproductive diseases, paternal exposure to environmental risk factors, maternal exposure to environmental risk factors, maternal abnormal pregnancy history, first-trimester maternal illness, first-trimester maternal bad mood, first-trimester sexual activity, first-trimester maternal diet of fruits and vegetables per day, were statistically significant.
     Multivariate conditional logistic regression analysis showed that paternal family history, paternal exposure to environmental risk factors, maternal abnormal pregnancy history, first-trimester maternal illness, first-trimester maternal bad mood, first-trimester sexual activity, first-trimester maternal intake of fruits and vegetables per day entered the logistic model. Among which, paternal exposure to environmental risk factors, maternal abnormal pregnancy history, first-trimester maternal illness, first-trimester maternal bad mood, first-trimester sexual activity were risk factors of CL/P, while first-trimester maternal high intake of fruits and vegetables per day was a protective factor of CL/P.
     3. The information of recognition to birth defects among parents and results of interview to leaders
     The findings showed that the pregnant women in survey area neither knew much about birth defects nor take related preventive measures. Some of prenatal diagnostic equipment of the local hospitals fell behind the actual demand. The local hospitals carried out few intervention activities on birth defects. Moreover, because of high mobility, the public lacked awareness of pregestational health care and were not willing to take the initiative to acquire knowledge. Therefore, even if the intervention activities were carried out, the expected effects would not be achieved.
     4. Parental genetic inheritance
     There were four children with parental genetic inheritance, all of which were collateral inheritance. Three were boys and one was a girl. None of their parents had congenital deformities or were sib mating.
     Conclusions
     1. The prevalence of birth defects in Hubei province is at a relatively high level and shows an obvious upward trend, which also presents diferences in gender, season and maternal age. The incidence of CL/P ranks as the first of all types of birth defects.
     2. The influential factors of CL/P are paternal exposure to environmental risk factors, maternal abnormal pregnancy history, first-trimester maternal illness, first-trimester maternal bad mood, first-trimester sexual activity and first-trimester maternal intake of fruits and vegetables per day.
     3. The pregnant women in survey area neither know much about birth defects nor take related preventive measures. We should pay more attention to promoting their recognition to birth defects in future and encouraging them to adopt related preventive measures.
     4. There is parental genetic inheritance phenomenon in the occurrence of CL/P.
引文
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