降低出生缺陷发生率 提高出生人口素质

当前影响出生人口素质的主要因素之一是出生缺陷。国际上对出生缺陷的研究始于２０世纪６０年代初期，一些发达国家相继对出生缺陷采取监测手段，期待找出可进行干预的途径。１９８６年我国成立“中国出生缺陷监测中心”，并在全国范围内开始出生缺陷监测。１北京市出生缺...     

强化出生缺陷干预措施 提高出生人口素质

为了提高出生人口素质，预防和减少出生缺陷儿的发生率，我们自1999年强化了出生缺陷干预措施。本文试从开展出生缺陷干预的实践，探讨适应基层特点的出生缺陷干预工程的运行机制。     

重视出生缺陷的一级预防提高出生人口素质

加强出生缺陷预防是提高出生人口素质的源头性和战略性途径,与未来中国的核心竞争力休戚相关,是全面迈向小康社会、实现中国梦的必要条件与保障.经济的迅速发展,使我国社会人口状况和人群疾病谱发生了重大变化,人口再生产模式发生了根本性转变,低出生、低死亡和低增长成为我国人口发展的基本特征.在人口数量得到有效控制的情况下,提高人口素质成为一个十分迫切和重要的问题.出生人口素质是人类持续发展的基础,是提高人口健康的必要条件,国家已将预防出生缺陷、提高人口素质列为国民经济和社会发展的重要内容.     

全面实施出生缺陷干预 大力提高出生人口素质

《中共中央国务院关于全面加强人口和计划生育工作统筹解决人口问题的决定》（简称《决定》），明确提出了全面实施出生缺陷干预，大力提高出生人口素质的新要求，赋予了计划生育技术服务新的使命。全面实施出生缺陷三级预防，综合干预，是提高出生人口素质的关键。今年5月，吉林省人口计生委同省卫生厅就如何做好出生缺陷干预工作，     

降低出生缺陷 提高人口素质

<正>出生缺陷是指在婴儿出生前.在母体内便发育异常,出生后表现为结构性、功能性或生物化学性等方面的异常。出生缺陷在全身各个系统都有,有的明显,如:肢体畸形、脑积水、脊柱裂、唇腭裂等.刚出生就能表现出来。有些是出生后在成长过程中逐渐表现出来。如:智力低下、苯丙酮尿症、甲状腺功能低下等。出生缺陷干预功能工程就是通过科学的新技术、新方法有效地降低先天性病残儿的发生率.提高出生人口的素质。     

控制出生缺陷提高人口素质

本文分析了当前我国出生缺陷发生率持续增高的趋势,提出了控制出生缺陷疾病,提高人口素质的5年总体目标,预防新生儿缺陷疾病、儿童卫生保健的重大专项科研课题及关键技术的发展计划。     

控制出生缺陷提高人口素质

本文分析了当前我国出生缺陷发生率持续增高的趋势，提出了控制出生缺陷疾病。 提高人口素质的５年总体目标，预防新生儿缺陷疾病、儿童卫生保险的重大专项科研课题及关键技术的发展计划。     

河北省预防出生缺陷提高出生人口素质干预措施的研究

控制人口数量,提高人口素质是我国的一项基本国策,出生缺陷则是严重影响人口素质的一个重要因素.目前,我国每年约有80～120万名缺陷儿出生.占全部人口的4%～6%.     

四川省人口计生委出台实施出生缺陷干预提高出生人口素质的意见

为大力提高出生人口素质，最近，四川省人口计生委出台了《关于实施出生缺陷干预提高出生人口素质的意见》（简称《意见》）。要求全省各级人口计生部门要立足于履行人口计生部门的工作职责和工作任务，充分利用行政管理、宣传教育、技术服务、信息服务、群众队伍等网络优势，围绕宣传、咨询、指导、服务，科学制定提高出生人口素质的规划及行动计划，认真做好出生缺陷一级干预工作。各级人口计生部门在开展出生缺陷干预工作中，要以孕前和产前预防为重点把出生缺陷干预工作重点放在知识干预之上，开展有针对性的健康教育，加强婚前及新婚期遗传与优生咨询服务和指导，加强已婚待生育或不宜生育者采取适宜的避孕措施。     

综合干预提高出生人口素质

随着社会的进步和经济的发展，人们重视优生优育，预防出生缺阶．不仅对个人和家庭有益．对国家也具有特殊的意义。出生缺陷的发生是多种因素共同作用的结果，“三级预防”是出生缺陷干预的关键。几年来，山东省东营市采取综合措施积极做好出生缺陷干预工作，并取得了显著成绩。     

叶酸与出生缺陷的预防

叶酸属于B族维生素,是DNA和RNA合成过程中不可缺少的重要物质,在细胞生长、分化、修复和宿主防御等方面扮演重要角色.近年来,各国学者对其在生殖领域的作用进行了大量的研究,母体叶酸的缺乏与神经管畸形、先天性心脏病、唇腭裂等出生缺陷的发生均有关联,研究证实.围妊娠期增补叶酸可有效降低胎儿发生神经管畸形等出生缺陷的危险性.     

叶酸与出生缺陷的预防

叶酸属于B族维生素,是DNA和RNA合成过程中不可缺少的重要物质,在细胞生长、分化、修复和宿主防御等方面扮演重要角色。近年来,各国学者对其在生殖领域的作用进行了大量的研究,母体叶酸的缺乏与神经管畸形、先天性心脏病、唇腭裂等出生缺陷的发生均有关联,研究证实,围妊娠期增补叶酸可有效降低胎儿发生神经管畸形等出生缺陷的危险性。     

Systems Biology and Birth Defects Prevention: Blockade of the Glucocorticoid Receptor Prevents Arsenic-Induced Birth Defects

Background: The biological mechanisms by which environmental metals are associated with birth defects are largely unknown. Systems biology–based approaches may help to identify key pathways that mediate metal-induced birth defects as well as potential targets for prevention.Objectives: First, we applied a novel computational approach to identify a prioritized biological pathway that associates metals with birth defects. Second, in a laboratory setting, we sought to determine whether inhibition of the identified pathway prevents developmental defects.Methods: Seven environmental metals were selected for inclusion in the computational analysis: arsenic, cadmium, chromium, lead, mercury, nickel, and selenium. We used an in silico strategy to predict genes and pathways associated with both metal exposure and developmental defects. The most significant pathway was identified and tested using an in ovo whole chick embryo culture assay. We further evaluated the role of the pathway as a mediator of metal-induced toxicity using the in vitro midbrain micromass culture assay.Results: The glucocorticoid receptor pathway was computationally predicted to be a key mediator of multiple metal-induced birth defects. In the chick embryo model, structural malformations induced by inorganic arsenic (iAs) were prevented when signaling of the glucocorticoid receptor pathway was inhibited. Further, glucocorticoid receptor inhibition demonstrated partial to complete protection from both iAs- and cadmium-induced neurodevelopmental toxicity in vitro.Conclusions: Our findings highlight a novel approach to computationally identify a targeted biological pathway for examining birth defects prevention.     

The National Birth Defects Prevention Study

The National Birth Defects Prevention Study was designed to identify infants with major birth defects and evaluate genetic and environmental factors associated with the occurrence of birth defects. The ongoing case-control study covers an annual birth population of 482,000 and includes cases identified from birth defect surveillance registries in eight states. Infants used as controls are randomly selected from birth certificates or birth hospital records. Mothers of case and control infants are interviewed and parents are asked to collect buccal cells from themselves and their infants for DNA testing. Information gathered from the interviews and the DNA specimens will be used to study independent genetic and environmental factors and gene-environment interactions for a broad range of birth defects. As of December 2000, 7,470 cases and 3,821 controls had been ascertained in the eight states. Interviews had been completed with 70% of the eligible case and control mothers, buccal cell collection had begun in all of the study sites, and researchers were developing analysis plans for the compiled data. This study is the largest and broadest collaborative effort ever conducted among the nation's leading birth defect researchers. The unprecedented statistical power that will result from this study will enable scientists to study the epidemiology of some rare birth defects for the first time. The compiled interview data and banked DNA of approximately 35 categories of birth defects will facilitate future research as new hypotheses and improved technologies emerge.     

基因组学在预防出生缺陷中的应用

中国是出生缺陷的高发国,出生缺陷总发生率约为5.6%,出生缺陷在全国婴儿死因中的构成比顺位由2000年的第4位上升至2011年的第2位,达到19.1%。遗传因素是出生缺陷发生的一个重要原因,随着基因组学的研究进展以及基因检测平台的高速发展,使得基因检测在常见的染色体异常、新生儿代谢性疾病及单基因病等出生缺陷预防中的应用越来越广泛。以出生缺陷的三级预防体系为基础,探讨基因组学在其体系中的应用对完善中国出生缺陷的预防工作是非常重要的。     

实施出生缺陷干预战略的思考与建议

<正> 中共中央、国务院在世纪之交作出了《关于加强人口与计划生育工作稳定低生育水平的决定》(以下简称《决定》),提出在实现人口再生产类型的转变之后,人口与计划生育工作的主要任务将转向稳定低生育水平,提高出生人口素质。中央及国家计生委针对编制“十五”人口与计划生育事业发展规划提出的指导方针是:     

婚育前保健对出生缺陷的预防作用

随着我国社会经济的发展,人民的健康水平也不断改善,1991年以来,我国的婴儿死亡率缓慢下降,据卫生部统计,2008年婴儿死亡率降至14．9‰,为历年最低水平。     

中国出生缺陷预防策略的思考

从生物医学、卫生经济学、社会医学等多个学科角度对我国出生缺陷的预防策略进行了思考和分析。提高出生人口素质和预防出生缺陷已经得到我国政府的高度重视,但我国出生缺陷预防依然面临着诸多的挑战,任重而道远。在制定预防出生缺陷规划和方案时,一定要吸取我国在人口数量控制方面的经验教训,要有科学的态度和实事求是的精神,并充分考虑到我国的基本国情。一方面,应充分认识到预防出生缺陷并不等同于产前筛查诊断和选择性终止妊娠,要切实实现出生缺陷预防从产前-围产保健模式向孕前-围孕保健模式转变。另一方面,预防出生缺陷要以社会心理生物医学模式为指导,充分认识到采取社会行动在出生缺陷预防中的重要性。有效的出生缺陷预防规划需要针对服务人群特点和特定需求;必须考虑到资源竞争、所需的适宜政策、服务和管理环境;还应以结果为导向,特别注重预防措施的效果,选择成本低廉、效果肯定、群众易于接受的措施和技术方法。尽管出生缺陷预防应实施“三级预防”的综合策略,但并非所有的预防干预措施均具有同等的优先等级,应突出重点,分阶段、有计划的逐步推进。     

Prenatal Nitrate Intake from Drinking Water and Selected Birth Defects in Offspring of Participants in the National Birth Defects Prevention Study

Background: Previous studies of prenatal exposure to drinking-water nitrate and birth defects in offspring have not accounted for water consumption patterns or potential interaction with nitrosatable drugs.Objectives: We examined the relation between prenatal exposure to drinking-water nitrate and selected birth defects, accounting for maternal water consumption patterns and nitrosatable drug exposure.Methods: With data from the National Birth Defects Prevention Study, we linked addresses of 3,300 case mothers and 1,121 control mothers from the Iowa and Texas sites to public water supplies and respective nitrate measurements. We assigned nitrate levels for bottled water from collection of representative samples and standard laboratory testing. Daily nitrate consumption was estimated from self-reported water consumption at home and work.Results: With the lowest tertile of nitrate intake around conception as the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.2) to ingest ≥ 5 mg nitrate daily from drinking water (vs. < 0.91 mg) than control mothers. During 1 month preconception through the first trimester, mothers of limb deficiency, cleft palate, and cleft lip cases were, respectively, 1.8 (95% CI: 1.1, 3.1), 1.9 (95% CI: 1.2, 3.1), and 1.8 (95% CI: 1.1, 3.1) times more likely than control mothers to ingest ≥ 5.42 mg of nitrate daily (vs. < 1.0 mg). Higher water nitrate intake did not increase associations between prenatal nitrosatable drug use and birth defects.Conclusions: Higher water nitrate intake was associated with several birth defects in offspring, but did not strengthen associations between nitrosatable drugs and birth defects.Citation: Brender JD, Weyer PJ, Romitti PA, Mohanty BP, Shinde MU, Vuong AM, Sharkey JR, Dwivedi D, Horel SA, Kantamneni J, Huber JC Jr., Zheng Q, Werler MM, Kelley KE, Griesenbeck JS, Zhan FB, Langlois PH, Suarez L, Canfield MA, and the National Birth Defects Prevention Study. 2013. Prenatal nitrate intake from drinking water and selected birth defects in offspring of participants in the National Birth Defects Prevention Study. Environ Health Perspect 121:1083–1089; http://dx.doi.org/10.1289/ehp.1206249