Rates of selected birth defects in relation to folic acid fortification, Hawaii, 1986-2002

Because of studies suggesting that folic acid use reduces risk of various birth defects, the Unites States fortified enriched cereal grains with folic acid in 1998. To determine whether this fortification reduced rates for birth defects in Hawaii, rates were calculated before and after fortification. Of the 19 birth defects categories studied, the rates for 16 were lower after fortification.     

新疆图木舒克市出生缺陷患儿父母人群特征

目的 了解目前新疆地区出生缺陷患儿父母人群特征及探索其潜在影响因素情况,为新疆地区出生缺陷的进一步调查和防治提供决策依据。方法 采用出生监测数据,从2007—2016年10年监测的出生缺陷患儿中采用简单随机抽样方法抽取250例患儿,对其家长进行现场问卷调查。结合民族地区特征,按照一般情况、母亲情况、父亲情况分三组变量进行调查。结果 175例出生缺陷疾病儿童,其中男性105人,占60.0%,女性70人,占40.0%。平均年龄为（4.8±2.5）岁,其中6岁及以下占54.9%,7~10岁占45.1%。有20人患儿父母有血缘关系,占11.4%。大部分患儿父母为维吾尔族（父：86.3%,母：86.9%）、初中及以下文化程度（父：92.6%,母：94.9%）、职业为农民（父：87.4%,母：88.6%）。大多数患儿父母没有接受过婚育指导（母：79.4%）和婚育前体检（父：85.7%,母：81.1%）,大多数患儿母亲孕早期没有叶酸增补（母：94.3%）。结论 影响新疆出生缺陷发生的可能高危因素为父母为维吾尔族、低文化程度、农民、未接受婚育指导和婚育前体检,出生缺陷家族史,母亲孕早期没有补充叶酸等。     

Birth prevalence and recurrence rates of neural tube defects in southern Alberta in 1970-81.

Given the observed variation in birth prevalence and recurrence rates of neural tube defects, it is important to obtain such data specific to a given locality for research and genetic counseling purposes. A review of hospital medical charts, the patient lists of the Medical Genetics and Myelomeningocele clinics at Alberta Children's Hospital and data from the Canadian Congenital Anomalies Surveillance System revealed the annual birth prevalence rate of neural tube defects in southern Alberta in 1970-81 to be 1.62/1000 total births. This figure suggests southern Alberta to be a low-frequency area. There was no significant variation in the annual rates of spina bifida, encephalocele or all neural tube defects combined over the study period. A significant linear decline in the frequency of births of anencephalic infants, however, was noted (p = 0.025). Information on the total reproductive history of the mothers revealed that the empiric risk of recurrence of a neural tube defect was 2.2%, and the risk to all siblings was estimated to be 2.3%. In future prevalence studies multiple sources of case ascertainment should be used, including data on pregnancies terminated because of a fetal neural tube defect.     

Maternal cocaine use during early pregnancy as a risk factor for congenital urogenital anomalies

To study the association of maternal cocaine use during early pregnancy with the occurrence of congenital urogenital anomalies, we analyzed data from the population-based Atlanta Birth Defects Case-Control Study. We identified 276 and 791 case-babies with urinary and genital anomalies, respectively, who were live born and stillborn to residents of metropolitan Atlanta from 1968 through 1980. There were 2835 and 2973 respective control-babies born without birth defects randomly selected through birth certificates. Maternal cocaine use during early pregnancy was defined as reported use at any time from 1 month before the pregnancy began through the first 3 months of pregnancy. We found a statistically significant association of reported cocaine use with an increased risk for urinary tract defects (crude odds ratio, 4.39; 95% confidence interval, 1.12 to 17.24) and no statistically significant association with genital organ defects (odds ratio, 2.26; confidence interval, 0.67 to 7.62). The findings from this study were consistent with a previously reported association of maternal cocaine use and urinary tract anomalies in animal and clinical studies.     

Epidemiological field studies of animal populations.

Numerous survey designs have been developed for epidemiological field studies of human populations, most of which are also applicable to field studies of animal poulations. Each design has its own advantages and disadvantages. The final design selected for a particular study depends upon such factors as the overall purpose of the study, the geographic dimensions of the study area, the diseases incidence or prevalence and species to be studied as well as the planned use for the data. Population dynamics including the distribution and density of the species to be studied are factors that should also be considered in the initial design of a study. A surveillance system, using mailed questionnaire data and a subsequent survey using direct interviews of validate the data in a statewide study of swine birth defects are used to illustrate some of the techniques that can be applied to domestic animal populations in a fairly large geographic area. The type of data collected, its use and its limitations are also considered.     

Safety of chloroquine in chemosuppression of malaria during pregnancy

A cohort of 169 births to women who were exposed throughout pregnancy to chloroquine 300 mg base once a week for chemosuppression of malaria was studied. The birth defects in this cohort were compared with those in a control group of 454 births to women who were not exposed to chloroquine, most of whom lived in non-malarious areas. The proportion of birth defects in the exposed group was not significantly different from that in the control group. This observation must be considered within the limitations of the study, which could detect only a strong teratogenic effect. It could not exclude risks lower than a 5.7-fold increase in the incidence of birth defects when chloroquine was used. Women using chloroquine during pregnancy for chemosuppression of malaria can be reassured that it is not a strong teratogen, but if it is to be used the risk of developing malaria should be balanced against the lack of data to determine whether it carries a low teratogenic risk.     

Birth defects in the Seveso area after TCDD contamination

A study on the frequency of birth defects was conducted in the area around Seveso, Italy, which was contaminated by 2,3,7,8-tetrachlorodibenzo-p-dioxin in July 1976; this has been the largest population ever exposed to dioxin. From Jan 1, 1977, to Dec 31, 1982, a total of 15,291 births (still and live) were examined, and malformations were reported to an ad hoc birth defects registry. In the most highly contaminated area, 26 births were observed. None of these infants had any major structural defect. Two infants had mild defects. The frequencies of major defects detected in the areas of low or very low contamination were 29.9/1000 and 22.1/1000, respectively. A frequency of 27.7/1000 was registered in the control area. Relative risks were calculated for specific categories of birth defects and for grouped malformations. Although the data collected failed to demonstrate any increased risk of birth defects associated with 2,3,7,8-tetrachlorodibenzo-p-dioxin, the number of exposed pregnancies was not big enough to show a low and specific teratogenic risk increase.     

东莞市2004～2014年出生缺陷调查

目的  了解东莞市出生缺陷的发展趋势及流行病学特征,为进一步制定出生缺陷干预措施提供依据。方法  对2004～2014年东莞市住院分娩的1 395 155例围产儿进行出生缺陷监测并进行分析。结果  ①11年出生缺陷平均发生率为18.54‰,总体呈上升趋势。②出生缺陷的发生具有以下特征：a高龄孕母出生缺陷发生率明显高于其他年龄组（P <0.01）;b双胎或多胎妊娠出生缺陷发生率高于单胎妊娠（P <0.01）;c东莞市户籍出生缺陷发生率高于非东莞市户籍（P <0.01）;d男性出生缺陷发生率高于女性（P <0.01）,不同片区出生缺陷发生率比较差异有统计学意义。③出生缺陷类型前5位依次为：先天性心脏病、多指（趾）、总唇腭裂、神经管畸形、马蹄内翻足。④民营医院出生缺陷发生率明显低于公立医院（P <0.01）。结论  东莞市出生缺陷发生率高于全国平均水平。出生缺陷类型前3位与全国相同;出生缺陷发生率在孕母年龄、户籍、怀孕胎数、围产儿性别、出生地等方面比较,差异有统计学意义。应加大民营医院出生缺陷监测质控水平。东莞市出生缺陷发生率呈上升趋势,应引起高度重视,采取干预措施,降低出生缺陷发生率。

     

169例围产儿出生缺陷监测结果分析

目的：分析围产儿出生缺陷发生的情况,提出干预措施,为早期发现缺陷儿,提高产前诊断技术提供参考。方法：对2002年10月1日～2008年9月30日孕28周至产后7d住院分娩的17351例围产儿进行监测。结果：6年共监测围产儿17351例,出生缺陷169例,出生缺陷发生率为9．74‰;出生缺陷位于前5位的是多指、并指（趾）及马蹄内（外）翻足、唇颚裂、先天性心脏病、尿道下裂;出生缺陷的产前确诊率为20．71％;出生缺陷儿母亲以流动、低收入、低文化人群为主体,82．25％的缺陷儿母亲孕早期无明显的致畸因素。结论：加强优生优育宣教,做好产前检查,提高产前诊断技术,减少出生缺陷,提高人口素质。     

异常生育史与遗传性家族史、孕期危险因素的多重对应分析

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。     

2012-2017年山西省围生儿出生缺陷监测结果和流行病学分析

背景　出生缺陷已成为全世界共同关注的重大公共卫生问题之一。山西省作为出生缺陷的高发地区,其出生缺陷发生率严重影响出生人口质量。目的　了解山西省2012-2017年出生缺陷变化趋势及相关因素,为制定有针对性的防控措施提供依据。方法　对山西省2012-2017年覆盖11个地市37所监测机构的围生儿出生缺陷监测数据进行分析。主要监测出生缺陷发生率、出生缺陷发生率的人群分布、主要出生缺陷发生率及顺位、出生缺陷儿的诊断和转归。结果　2012-2017年,共监测围生儿455 374例,出生缺陷儿6 316例（1.39%）,围生儿出生缺陷平均发生率为138.70/万。不同年份间围生儿出生缺陷发生率总体呈上升趋势（χ2趋势=97.68,P<0.001）。男性围生儿（149.56/万）出生缺陷发生率高于女性（124.65/万）,差异有统计学意义（χ2=51.96,P<0.001）;城镇围生儿（142.58/万）出生缺陷发生率高于农村（134.84/万）,差异有统计学意义（χ2=51.96,P <0.001）。不同年龄组产妇围生儿出生缺陷发生率存在差异（χ2=41.12,P <0.001）,>35岁年龄组产妇（172.65/万）围生儿出生缺陷发生率高于20~、25~、30~岁产妇（χ2值分别为24.32、39.14、28.02,P <0.001）。前5位主要出生缺陷依次为先天性心脏病（37.31/万）、多指（趾）（19.39/万）、总唇裂（14.05/万）、神经管畸形（7.71/万）及外耳其他畸形（7.01/万）。先天性心脏病的发生率由2012年的13.23/万上升至2017年的58.27/万,差异有统计学意义（χ2=404.54,P<0.001）。结论　2012-2017年山西省围生儿出生缺陷发生率总体呈上升趋势,先天性心脏病的发生率居于首位。需加强三级预防措施,减少出生缺陷,提高出生人口素质。     

贵州省某医院170例新生儿出生缺陷的影响因素分析

目的:探讨新生儿出生缺陷的影响因素,为新生儿出生缺陷的预防和干预提供依据.方法:基于贵州省某医院2003 -2011年出生缺陷的监测数据,运用卡方检验分析170例新生儿出生缺陷的特征变化及其影响因素.结果:该院出生缺陷检出率为142.6/万,产前诊断率为17.65％,异常因素占41.12％;出生缺陷前5位分别为外耳其它畸形、多指、神经管缺陷、马蹄足内翻和肢体短缩;母亲年龄＜20岁缺陷儿发生率较高.结论:加强孕前保健、孕期保健、产前筛查和孕前与孕早期叶酸规范服用,是当前预防和减少出生缺陷发生的主要工作.     

重庆市北碚区出生缺陷人群监测及一级干预模式分析

目的探索建立出生缺陷人群监测体系,获取以人群监测为基础的出生缺陷数据,同时进行出生缺陷一级干预以提高出生人口素质。方法研究制定以村、社区为基础的、利用计划生育服务机构三级网络开展出生缺陷人群监测的方案,发现、收集、分析出生缺陷的病例,并进行一级干预。结果建立了以区、镇（街道）、村（社区）计划生育技术服务网络为基础的三级出生缺陷人群监测干预体系,获得了我区出生缺陷监测和一级干预的相关数据,探讨了一条由计划生育服务网络为依托的出生缺陷人群监测和干预模式。通过上述模式监测到北碚区2005～2009年出生缺陷发生率波动在5．5‰-3．32‰之间;出生缺陷排前三位的是先天性心脏病（27．91％）、唇腭裂（19．77％）、多指（12．79％）;出生缺陷发生率农村多于城市（67／19,P〈0．05）。结论利用计划生育三级服务网络进行系统的,长期的,动态的出生缺陷人群监测和综合干预,使出生缺陷监测与干预更直接、广泛、全面。出生缺陷监测干预的重点在农村。     

芜湖县2002~2005年3033例围生儿出生缺陷监测结果与分析

目的:探明围生儿出生缺陷的种类和发生率,寻找影响出生缺陷的可能因素。方法:对芜湖县医院3033例住院分娩儿出生缺陷监测资料进行分析。结果:在该院分娩的围生儿出生缺陷发生率12.20‰(37/3033),与2004年全国围生儿出生缺陷发生率12.84‰接近;出生缺陷分类构成的顺位前5位依次为唇裂、唇裂合并腭裂、尿道下裂、先天性脑积水及先天性心脏病;居住在城镇和乡村的出生缺陷发生率无差异;孕母年龄越大,出生缺陷发生率越高;男婴出生缺陷发生率(15.38‰)明显高于女婴(7.48‰);双胎出生缺陷发生率(129.03‰)明显高于单胎(10.99‰);产前诊断率为24.32%;孕母的文化程度和经济收入相对较低者,出生缺陷儿发生率相对较高。结论:做好出生缺陷监测工作,积极探讨致畸原因,加强出生缺陷一级预防和二级预防,减少残疾儿发生。     

A potential use of the National Death Index for postmarketing drug surveillance

A particularly difficult problem for both the Food and Drug Administration and the pharmaceutical manufacturer is evaluation of the importance of spontaneous reports of suspected drug-associated fatalities. These reports are rare, and usually no accurate denominator data on drug use exist. This article proposes that the National Death Index be used to calculate mortality rates for selected drugs as part of the postmarketing surveillance efforts of the government and manufacturers. When hypotheses are generated from spontaneous reports and/or the mortality data, additional studies can be conducted on the cohorts that were identified for mortality follow-up.     

Pharmacologic treatment of depression during pregnancy.

CONTEXT: Despite the frequency of depression in women of childbearing age, information to guide patients and physicians through a consideration of treatment during pregnancy is limited. OBJECTIVE: To identify risk factors associated with treatment of major depression during pregnancy to help physicians develop treatment plans that optimize clinical care. DATA SOURCES: Reports of prospective controlled trials in English were identified from MEDLINE and Health STAR using the search terms antidepressant during pregnancy and depression during pregnancy, by manually searching bibliographies of review articles, and through discussions with investigators for 1989-1999. STUDY SELECTION: We selected studies in which maternal and infant health outcomes associated with antidepressant exposure were compared with those of non-teratogen-exposed controls. Four studies published since 1993 were identified and included in the analysis. DATA EXTRACTION: We abstracted information about identification of subjects, comparison groups, pregnancy, and birth outcomes. We organized the data along 5 domains of reproductive toxicity: intrauterine fetal death, morphologic teratogenicity, growth impairment, behavioral teratogenicity, and neonatal toxicity. DATA SYNTHESIS: Data were available for tricyclic antidepressants (collectively), fluoxetine, and newer selective serotonin reuptake inhibitors (collectively). Exposure to these agents did not increase risk for intrauterine death or major birth defects. Decreased birth weights of infants exposed to fluoxetine in the third trimester were identified in 1 study. The development of children whose mothers took tricyclics or fluoxetine during gestation did not differ from that of controls. Direct drug effects and withdrawal syndromes occurred in some neonates whose mothers were treated with antidepressants near term. CONCLUSIONS: Although few in number, new information from prospective studies provides a welcome change from decision making based on nonprospective data. Monitoring and interventions for patients with identified risks (eg, poor weight gain) are recommended.     

Rates for specific birth defects among native Hawaiians compared to whites, Hawaii 1986-2000

Rates for many birth defects have not been identified for native Hawaiians. Using birth defects regstry data, the total major birth defect rate for whites was found to be 4.70% and for native Hawaiians was 4.75%. After adjusting for maternalage, the rates were lower among native Hawaiians for 40 (74.1%) of 54 selected birth defects.     

洛阳市出生缺陷监测结果及相关因素探讨

目的 :了解洛阳市围产儿出生缺陷的种类、分布及相关因素 ,为制定干预措施提供可靠依据。方法 :对监测医院出生的所有围产儿 (包括活产、死产、死胎 )进行统一的登记 ,每一例畸形儿都要请有关专家进行确诊 ,必要时进行尸体解剖、病理检查以及染色体检查等。结果 :1997～ 1999年洛阳市出生缺陷发生率为 10 14‰ ,其中城市为 7 0 9‰ ,农村为 2 4 2 2‰ ,农村明显高于城市。在各类出生缺陷中 ,神经管畸形的发生率为 3 99‰ ,居首位。出生缺陷的发生与季节、环境、孕母年龄及孕期不良因素等有关。结论 :洛阳地区出生缺陷的发病率明显高于全国及河南省平均水平 ,特别是农村出生缺陷儿发病率达 2 4 2 2‰。因此 ,把农村做为重点监测预防对象 ,巩固和完善出生缺陷的三级预防监测网 ,制定有效的预防措施 ,是降低出生缺陷发生率 ,提高人口素质的有效手段     

人类辅助生殖技术子代安全性问题

人类辅助生殖技术(ART)日渐成熟,已成为广大不孕不育患者克服疾病困扰获得后代的可靠助孕手段。围绕ART采用的相关医疗手段及对配子和早期胚胎采取的多种实验室干预措施如体外授精、卵胞浆内单精子注射、胚胎植入前遗传学诊断、胚胎冷冻保存及冻融胚胎复苏技术等对ART子代的安全性存在的影响,已成为生殖医学领域研究的重点。研究表明,ART子代和自然妊娠子代的健康状况相似,辅助生殖技术是相对安全的。然而,受ART子代年龄和群体样本量影响,研究只能阐述ART子代出生后早期的随访,尚无权威证据揭示其对子代成年后的远期影响,也无法证明这些研究结论是否与ART适应证、夫妻双方不孕原因、母体年龄、遗传因素、IVF技术本身、IVF相关的不良围产结局等是否存在相关性。对 ART 助孕的子代安全性问题进行综述,讨论ART常规技术与出生缺陷、ART与早产、ART与低体质量儿、ART子代生长发育评估、ART子代的精神健康等问题,为人类ART安全有效的应用提供依据。