【作者】 郝玉娟；

【导师】 郭玉琪；

【作者基本信息】 郑州大学 ， 临床医学（专业学位）， 2013， 硕士

【摘要】 出生缺陷(birth defect, BD)是指在出生时伴随的身体结构或功能的异常,其发生率在39.7‰～82‰,越贫穷的国家其发生率越高,尤其是那些近亲结婚比较常见的国家,其发生率更高。全球每年有330万左右的婴幼儿因出生缺陷而天折,有幸得以存活下来的大多数出生缺陷儿往往伴有终生的精神、躯体、视力或听力的残疾,巨额的医疗费用和精神负担严重影响了他们及家人的生活质量。目前,出生缺陷有7000多种,在中等收入和低收入国家其发生率更高。这是因为出生缺陷与孕妇的营养健康状况及其他危险因素有关,如贫穷、高龄、近亲结婚、携带葡萄糖6磷酸脱氢酶(Glucose-6-phosphate Dehydrogenase, G6PD)缺乏症的致病基因、孕期接触酒精和药物、缺碘、感染梅毒等。中等收入及低收入国家孕妇接触这些危险因素的几率增高,而当地的预防保健措施又比较落后,因此出生缺陷的发生率要高于发达国家。如果能够对孕妇和新生儿采取有效的卫生保健措施,将能有效地降低出生缺陷的发生率。如随着围孕期妇女叶酸的补充,神经管缺陷的发生率已明显下降。因此寻找出生缺陷的影响因素,将对我们如何降低出生缺陷有很大的帮助。我们此次将从孕前检查、服用叶酸、孕期检查等20个方面来统计分析出生缺陷的影响因素,以期寻找到降低出生缺陷的有效方法。目的通过对围产儿出生缺陷相关因素的分析,寻找降低出生缺陷的有效措施。资料与方法1资料以2011年10月1日～2012年3月31日在河南省各监测医院出生,被诊断为出生缺陷的围产儿的母亲为病例组,共254例。同时选取同一医院、同-时间出生的正常活产儿的母亲为对照组,按1：3比例匹配,共762例。2方法我课题人员对各监测医院的相关负责人进行培训,由其填写《出生缺陷卡》和《孕产妇优生情况调查表》,确保在收集资料的过程中使用统一的语言,资料收集后检查其完整性,如发现有漏填或逻辑关系不正确者,电话询问,并抽取10%的问卷进行核查。收集相关资料后对各个变量予以赋值。3统计学处理将收集来的相关资料中的各个变量予以赋值。对孕妇年龄、民族、围产儿性别、居住地、家庭年人均收入、学历使用X2检验进行分析,对出生缺陷的相关影响因素先进行单因素Logistic回归分析,将有统计学意义(P<0.1)的因素引入多因素Logistic回归分析。使用SPSS17.0软件,以α=0.05为检验水准。结果1.病例组和对照组在年龄、民族、围产儿性别差异无统计学意义(P>0.05),提示两组资料具有一定的可比性。2.单因素分析显示婚检、孕前检查、服用叶酸、孕检为出生缺陷的保护因素；不良孕产史、早孕期感冒、妊娠合并症、多胎为出生缺陷的危险因素。3.多因素分析显示婚检及孕检是出生缺陷的保护因素；妊娠合并症、不良孕产史及接触致畸因子为出生缺陷的危险因素。结论1.婚检、孕前检查、孕检是出生缺陷的保护因素,积极参加孕前-围孕期检查是减少BD的有效措施；2.不良孕产史、接触致畸因子、妊娠合并症为出生缺陷的危险因素,围孕期应及时干预。更多还原

【Abstract】 A birth defect is defined as any abnormality affecting body structure or function that is present from birth.The birth prevalence of all genetic birth defects combined ranges from a high of82to a low of39.7per1,000live births worldwide. Many of the highest birth prevalence rates are found among the world’s poorest countries, while many of the lowest rates are found among the world’s wealthier countries, with the exception of countries where common recessive disorders and marriages between first cousins and other close relatives are common. Serious birth defects can be lethal. For those who survive, these disorders can cause lifelong mental, physical, auditory or visual disability.At least3.3million children under five years of age die from birth defects each year.To date,more than7,000different birth defects of genetic or partially genetic origin have been identified.Birth defects are a global problem, but their impact is particularly severe in middle-and low-income countries. The proportion of births with birth defects as well as the absolute number of births are much higher in middleand low-income countries than in high-income countries because of sharp differences in maternal health and other significant risk factors, including poverty, a high percentage of older mothers, a greater frequency of consanguineous marriages and the survival advantage against malaria for carriers of sickle cell, thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency genes. Comparable data could not be derived for birth defects due to post-conception damage caused by maternal exposure to teratogens, such as alcohol,drugs, some infections and a number of toxic environmental agents.As with birth defects of genetic or partially genetic origin, post-conception birth defects are more common in low-and middle-income countries,where the potential for exposure to teratogenic agents is greater and fewer preventive measures are in place than in high-income regions.We must take highlight care and prevention of birth defects as an essential and integral part of women’s, maternal, newborn, and child health programs in all countries. Fortification of the grain food supply with folic acid has produced a sharp decline in neural tube defects each year.Collection of information on related influential factors such as precedent pregnant examination,taking folic acid,pregnant examination, and so on,to provide evidence for the control of birth defects.ObjectiveTo Investigate the relationship between birth defects and the related factors, find out some effective measuresrelated factors which reduce birth defects.Subjects and Methods1SubjectsWe studied254birth defects served in the study group.They were born in related birth defects monitoring hospital in henan province from October1,2011to March31,2012.762normal newborn infants were observed as control and matched for birthing at the same day and the same hospital. We used case-control for the study.2MethodsWe fill in the birth defects card and self-designed questionnaire by henan province in potential prenatal and perinatal which includes26items. Training the relevant person in charge of the investigation of hospital to ensure that useing unified language in the process. We checked the data by10percent.3Statistical Methods We encode correlated variable and input Excel spreadsheet. Chi-square was used to compare the basic situation. By means of univariate analysis to discuss the date of each factors,and then statistically significant variables included in the multivariate model fitting.All information use17.0for statistical analysis. a=0.05Results1.The difference of Case group and control group have no statistics significance on age、 nation and the sex newborns (P>0.05). The balanced principle is considered.2.Univariate analysis show that check-ups,precedent pregnant examination, taking folic acid,pregnant examination are protection factors for birth defects,history of the cold of early pregnancy,abnormal pregnancy history,pregnancy complications and multiple pregnancies are risk factors for birth defects.3.Multivariate analysis showed that the check-ups and pregnant examination are protection factors,abnormal pregnancy history,touch with harmful material during periconceptional,pregnancy complications are risk factors for birth defects.ConclusionThe check-ups,precedent pregnant examinationand and pregnant examination are protection factors,effective measures to reduce or avoid birth defects;abnormal pregnancy history,touch with harmful material during periceonceptional are risk factors for birth defects,the key points of the prevention of birth defects is interfere it as early as possible;pregnancy complications are risk factors for birth defects, the effective methods to reduce birth defects are must be realized, timely diagnosis intervened in time.更多还原