A case-control study of major congenital heart defects in Sweden — 1981–1986

This paper reports the results of a case-control study of major congenital heart defects (CHD) in Sweden. During the period 1981–1986, 1,324 such cases were identified and 2,648 controls were selected. Some common maternal characteristics and exposures were studied using information from prospectively collected data. Possible associations with CHD were found for previous perinatal death, maternal diabetes, epilepsy, hydramnios and disproportion between fetus and pelvis. More specific associations were observed between previous spontaneous abortion, epilepsy, hydramnios and truncus anomalies and between diabetes and septal anomalies. However, no associations were found with involuntary childlessness, contraceptive use, or smoking.Abbreviations ASD atrial septal defect - CHD congenital heart defect - CI confidence interval - CoA coarctation of the aorta - DORY double outlet right ventricle - ECD endocardial cushion defect - HLHS hypoplastic left heart syndrome - IUD intrauterine device - LMP last menstrual period - OC oral contraceptive - OR odds ratio - PDA patent ductus arteriosus - TGV transposition of the great vessels - VSD ventricular septal defect     

Maternal smoking and congenital heart defects

The Swedish Child Cardiology Registry (CCR) and the Swedish Medical Birth Registry (MBR) were used to investigate a possible association between maternal smoking during pregnancy and congenital heart defects. Among 1,413,811 infants born in 1983–1996 with known smoking exposure in early pregnancy, 3384 infants with congenital heart defects were selected (458 term infants with persistent ductus arteriosus (PDA) identified from MBR or CCR, and 2926 infants with other heart defects, identified from CCR). After controlling for year of birth, maternal age, parity, and educational level, a weak, statistically significant association between all heart defects and maternal smoking was found (odds ratio (OR): 1.09; 95% confidence interval (CI): 1.01–1.19). When infants with isolated PDA were removed from the case group the significance disappeared (OR: 1.07; 95% CI: 0.98–1.17). For truncus abnormalities (OR: 1.23; 95% CI: 1.02–1.49), atrial septal defects (OR: 1.63; 95% CI: 1.04–2.57), and PDA (OR: 1.30; 95% CI: 1.05–1.62), a rather strong effect of maternal smoking was indicated. The increased OR for PDA remained when gestational duration and intrauterine growth was also controlled for. Further research based on independent data sets is needed to conclude whether the risk estimates for maternal smoking are true and truly differ between the groups. The classification system used (with 24 classes) is described in enough detail to permit a repetition of the study.     

母亲孕期铁营养与子代先天性心脏病关系的病例对照研究

目的  探讨母亲孕期铁营养与子代先天性心脏病(congenital heart disease,CHD)的关系。方法  数据来源于陕西省2014年1月―2016年12月开展的CHD病例对照研究,对纳入孕妇进行膳食营养问卷调查。采用条件logistic回归分析模型分析母亲孕期铁营养与子代CHD及其各亚型的关系,并进行亚组分析探索其稳定性。结果  在调整了混杂因素后,母亲孕期增补铁剂降低了子代CHD的发生风险(< 30 d：OR=0.54, 95% CI: 0.37~0.79;≥30 d：OR=0.25, 95% CI: 0.16~0.38),孕期膳食铁摄入量较高(≥29 mg/d)降低了子代CHD的发生风险(OR=0.69, 95% CI: 0.54~0.88),亚组分析结果显示,母亲孕期铁营养和子代CHD的关系稳定。此外,母亲孕期增补铁剂≥30 d子代在室间隔缺损(ventricular septal defect, VSD)、房间隔缺损(atrial septal defect, ASD)、动脉导管未闭(patent ductus arteriosus, PDA)、法洛四联症(tetralogy of fallot, TOF)上发生风险均降低,增补铁剂 < 30 d子代在ASD发生风险降低,孕期膳食铁摄入量较高(≥29 mg/d)子代在VSD、PDA发生风险均降低。结论  母亲孕期铁营养水平升高降低了子代CHD的发生风险,孕妇孕期应注意机体铁营养的摄入和补充,促进母婴健康。     

母亲围孕期被动吸烟与子代先天性心脏病关系的病例对照研究

目的 探讨母亲围孕期被动吸烟与子代先天性心脏病（CHD）的关系。方法 采用病例对照研究设计,于2014年1月至2016年12月在陕西省开展的CHD病例对照研究。病例组为妊娠满28周至出生后7 d确诊为CHD的围产儿和妊娠<28周但经超声等检查确诊为CHD的胎儿;对照组为未发生任何出生缺陷的同时期新生儿。采用logistic回归模型分析母亲围孕期被动吸烟与子代发生CHD的关系,并进行亚组分析探索其稳定性。结果 共纳入2 259例调查对象,其中病例组695例,对照组1 564例。病例组中围孕期被动吸烟者占26.76%,而对照组中仅占6.01%。在控制了混杂因素后,围孕期被动吸烟者子代患CHD的风险是无被动吸烟者的3.32倍（OR=3.32,95% CI：2.41～4.56）。该风险随着孕妇被动吸烟暴露频率的增加而增大：每周被动吸烟1～3 d的孕妇生育CHD子代的风险是无被动吸烟者的2.75倍（OR=2.75,95% CI：1.62～4.66）;而每周被动吸烟超过3 d的孕妇生育CHD子代的风险是无被动吸烟者的3.62倍（OR=3.62,95% CI：2.48～5.29）。亚组分析显示,母亲围孕期被动吸烟和子代CHD的关系稳定。结论 母亲围孕期被动吸烟是子代发生CHD的危险因素。孕妇应尽可能避免二手烟的暴露,防范被动吸烟的危害。     

孕早期精神刺激与子代先天性心脏病的病例对照研究

目的:探讨母亲孕早期精神刺激与子代先天性心脏病(CHD)的关系.方法:抽取2012年1月～2014年1月在湖北省武汉市区级妇幼保健机构进行CHD免费筛查、通过常规的听诊及超声心动图筛出、并经市级以上医院确诊的201例CHD患儿为病例组,按照年龄、性别及社区配对选择402例健康婴儿为对照组.用EpiData 3.1软件录入数据,用SPSS 22.0软件进行单因素和多因素分析.结果:对母亲孕早期精神刺激进行单因素分析,结果显示:孕早期精神刺激与子代CHD的发生有一定关联(x2=21.6866,P＜0.000 1,OR=9.716,95％CI:3.731～25.299);多因素分析结果显示:孕早期精神刺激(P=0.0038,OR=5.986,95％CI:1.781 ～20.118)是CHD的危险因素之一.结论:孕早期精神刺激对子代CHD的发生影响较大.加强围孕期保健、避免负性事件的刺激、让孕母心情保持舒畅可在一定程度上减少CHD的发生.     

Ambient air pollution and congenital heart disease: a register-based study

Maternal exposure to ambient air pollution has increasingly been linked to adverse pregnancy outcomes. The evidence linking this exposure to congenital anomalies is still limited and controversial. This case–control study investigated the association between maternal exposure to ambient particulate matter with aerodynamic diameter less than 10 μm (PM₁₀), sulfur dioxide (SO₂), nitrogen dioxide, nitric oxide (NO), ozone (O₃), and carbon monoxide (CO) and the occurrence of congenital heart disease in the population of Northeast England (1993–2003). Each case and control was assigned weekly average (weeks 3–8 of pregnancy) of pollutant levels measured by the closest monitor to the mother’s residential postcode. Using exposure as both continuous and categorical variables, logistic regression models were constructed to quantify the adjusted odds ratios of exposure to air pollutants and the occurrence of each outcome group. We found exposure to CO and NO to be associated with ventricular septal defect and cardiac septa malformations. CO was also associated with congenital pulmonary valve stenosis and NO with pooled cases of congenital heart disease and tetralogy of Fallot. Findings for SO₂, O₃ and PM₁₀ were less consistent.     

母亲职业紧张对子代先天畸形影响的病例-对照研究

目的探讨母亲职业紧张与子代先天畸形发生的关系。方法选择在北京市某区妇幼保健院发生的101例先天畸形的孕妇为病例组,同期正常妊娠的妇女303例为对照组,进行1∶3配对病例-对照研究;采用中文版工作内容问卷(JCQ)和付出-回报失衡问卷(ERIQ)核心版对研究对象分别进行职业紧张程度测量,对母亲职业紧张与子代先天畸形发生之间的关系进行多因素条件logistic回归分析。结果在控制和考虑非职业性因素后,对JCQ及相关因素分析表明,职业紧张程度与子代先天畸形发生之间相关性不明显(P=0.345),母亲加强体育锻炼对子代先天畸形的发生可能具有保护作用(OR=0.614,95%CI为0.465～0.810)、母亲较高教育程度也可能避免先天畸形的发生(OR=0.586,95%CI为0.406～0.844)。ERIQ分析母亲职业紧张程度与子代先天畸形发生之间的关系结果与JCQ相似(P=0.406)。结论该研究结果尚不能确定职业紧张对先天畸形的发生有影响。     

Case-control study of congenital malformations

To determine potentially teratogenic influencies in Belgrade, a group of 113 mothers who gave birth to severely malformed infants and a control group of 195 mothers with normal infants were interviewed using a structured questionnaire.Statistically significant differences between the two groups were found in the mother's family history of congenital malformations (P < 0.05) and the mother's diseases during the pregnancy (P < 0.01). Infections in the first trimester were particularly more prevalent in case mothers (OR = 7.70; P < 0.01). Mothers did not differ significantly according to exposure to organic solvents, supportive therapy during the pregnancy, use of oral contraceptives, or other personal habits.Corresponding author.     

深圳市胎儿、围产儿先天性心脏病危险因素研究

目的:对胎儿期、围产期先心病进行病例对照研究,探讨相关可疑危险因素,为先心病的病因学研究和制定一级预防措施提供依据。方法:选择深圳市2009年在44家产科医院分娩(或引产)的从怀孕开始到产后7天确诊为先天性心脏病的患儿418例为病例组,选择同医院出生的、受孕时间相差3个月内的、无出生缺陷的健康活产儿为对照组,进行问卷调查,收集资料后进行单因素和多因素Logistic回归分析。结果:多因素分析显示,母亲年龄(OR=1.06,95%CI:1.01～1.17)、孕前体质指数(OR=1.01,95%CI:1.01～1.18)、饮茶情况(OR=1.78,95%CI:1.12～2.83)均是先心病的危险因素,而孕早期摄入肉类是先心病的保护因素(OR=0.58,95%CI:0.38～0.88)。结论:应进一步扩大样本量探讨先心病的危险因素,广泛开展健康教育,鼓励适龄生育,孕期控制体重、孕早期注意营养等措施减少先心病发生率。     

被动吸烟与神经管缺陷关系的病例对照研究

目的 探讨妇女怀孕前后被动吸烟与神经管缺陷（NTDs）的相关性。方法 采用1[DK]∶1配对病例对照研究，选取2010-2014年山西省“削峰工程”监测医院登记的生育NTDs患儿的妇女411例作为病例组，同时选择怀孕前后居住在同一个县（或区）、民族相同、末次月经与病例妇女相差3个月以内的生育健康儿童的妇女411例作为对照组进行问卷调查。用单因素和多因素条件logistic回归模型探究妇女怀孕前后被动吸烟与NTDs的关系。结果 妇女怀孕前后被动吸烟增加生育NTDs患儿的风险（aOR=1.209，95%CI:1.043～1.401，P=0.012）。且随着被动吸烟的频次增加，生育NTDs患儿的风险增加，与未被动吸烟的妇女相比，每周被动吸烟4～6次的妇女和每周被动吸烟大于6次的妇女生育NTDs患儿的OR值分别为2.113和2.903（趋势〖XC小五号.EPS;P〗=13.381，P＜0.001）。妇女被动吸烟的主要场所是家中（71.6%），且妇女被动吸烟程度与丈夫吸烟情况相关（r=0.405）。结论 妇女怀孕前后被动吸烟会增加生育NTDs患儿的风险，且随着被动吸烟频次的增加，生育NTDs患儿的风险增加。     

1009例婴幼儿先天性心脏病危险因素的病例对照研究

目的 探讨母亲围孕期危险因素暴露与婴幼儿先天性心脏病的发病风险。方法 病例选择2012年3月1日~2013年10月1日在西京医院经超声心动图检查确诊为先天性心脏病的婴幼儿,对照选择为同期做超声心动图未发生先天性心脏病的婴幼儿。对病例组和对照组父母亲一般情况、母亲孕期环境因素暴露情况进行问卷调查。结果 435例先天性心脏病的婴幼儿和574例未发生先天性心脏病的婴幼儿的父母亲基本情况及母亲围孕期相关危险因素分析结果显示,母亲怀孕早期服用药物（OR=4.65,95%CI：2.84~7.66）、病毒感染（OR=3.15,95%CI：1.66~6.01）、房屋装修（OR=1.87,95%CI：1.24~2.80）、染发烫发（OR=2.18,95%CI：1.37~3.49）、父母工作环境污染暴露（OR=2.88,95%CI：1.86~4.47）均是造成心血管畸形的独立危险因素。随着暴露因素的增多,先天性心脏病发病的危险程度显著增加。当孕期同时受到3种或3种以上危险因素的暴露时,婴幼儿罹患先天性心脏病的危险性是单因素暴露的16.35倍。结论 婴幼儿先天性心脏病的发病与围孕期危险因素的暴露存在相关性。     

Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy)

Objectives: Collection and assessment of data from the Emilia-Romagna Region on the occurrence of congenital heart defects in order to identify an homogeneous group of patients for further aetiologic and genetic studies. Materials and methods: The present study is based on 1549 stillborn and live born babies affected by congenital heart defect out of 330,017 consecutive births (4.7 per 1000). Results: The frequency and type of congenital heart defects have been identified together with the sex ratio, associated extracardiac anomalies, chromosomal anomalies and the risk of precurrence in relatives. The impact of prenatal diagnosis on prevalence was low during the study period. Conclusions: The study has provided epidemiological data for public health surveillance of congenital heart defects in the Emilia-Romagna region. The creation of a system for the nationwide recording of congenital heart defects designed with regard to the sources of ascertainment, the diagnostic criteria, and the system of classification is emphasised.     

母亲围孕期焦虑与子代先天性心脏病关系的病例对照研究

目的:研究母亲围孕期焦虑与子代先天性心脏病（CHD）的关系。方法:数据来源于2014年1月至2016年12月在陕西省开展的CHD相关危险因素病例对照研究,通过焦虑自评表对母亲围孕期焦虑情绪进行评分,新生儿相关信息通过专业医院或机构提供。通过调整混杂因素的logistic回归分析母亲围孕期焦虑对新生儿CHD的影响,并进行...     

Bladder cancer and occupation: a report from the Belgian case-control study on bladder cancer risk

BACKGROUND: The aim of this study was to add to the data on associations between occupation and bladder cancer thereby strengthening the case for focused research on specific occupational categories. METHODS: Two hundred two cases and 390 controls participated in this population-based case-control study. Age, sex, smoking, and education adjusted odds ratios (ORs) were calculated for each occupation by unconditional logistic regression. RESULTS: The occupational group of domestic helpers, cleaners, and launderers exhibited a significantly elevated risk of bladder cancer. Elevated non-significant risks (OR > 1.5) were observed for painters and varnishers, electronic equipment assemblers, general laborers, building finishers, carpenters and joiners, architects and engineers, and textile and garment workers. CONCLUSIONS: This study suggests that domestic helpers, cleaners, and launderers probably experience an increased risk of bladder cancer. Although no other occupations showed significantly increased risks, the non-significantly elevated risks for painters, carpenters, and textile workers could be confirmed by results from earlier studies.     

Paternal occupation and neural tube defects: a case-control study based on the Oxford Record Linkage Study register

Certain paternal occupations and related exposures have been suggested as possible risk factors for neural tube defects (NTD). We analysed data collected as part of a case-control study to investigate the relationship between paternal occupational exposures and NTD. Cases were 694 NTD-affected pregnancies diagnosed between 1970 and 1987 in Oxfordshire or West Berkshire, England. Controls were randomly selected from a computerised maternity database individually matched to cases on maternal year of birth and year of index pregnancy. Data on paternal occupation were abstracted from hospital antenatal records. Associations between paternal occupational exposures and NTD were assessed using odds ratios adjusted for maternal year of birth, year of index pregnancy, gender of baby, multiplicity of birth and number of previous obstetric events. Statistically significant positive associations were observed for paternal occupational exposure to agrochemicals and animals. Analysis by occupational title revealed that more case than control fathers were farmers, gardeners and butchers. Statistically significant negative associations were seen for paternal occupational exposure to inhaled hydrocarbons and metal-working oil mists. The findings from this population-based study for paternal agricultural and animal-related occupations overlap and have been previously observed. The apparent protective effects of fathers working with inhaled hydrocarbons and metal-working oil mists have not been previously described. No underlying biological mechanisms have been identified, therefore other explanations cannot be excluded.     

儿童不分型先天性心脏病及室间隔缺损致病因素的比较分析

目的:探讨儿童不分型先天性心脏病(CHD)与室间隔缺损(VSD)两者的致病危险因素及其异同。方法:采用1∶1配对病例对照研究方法,分析115对CHD患儿与对照儿父母的环境暴露因素并检测其亚甲基四氢叶酸还原酶(MTH-FR)C677T与胱硫醚β-合成酶(CBS)T833C基因型,对不分型CHD与VSD可能的危险因素进行单因素及多因素Logistic回归分析。结果:妊娠合并症(OR=2.069,OR=2.963)、孕期情绪紧张或忧郁(OR=4.653,OR=3.98)为不分型CHD和VSD共同的危险因素,孕早期接触农药(OR=8.62)、孕早期感冒(OR=4.125)、母MTHFR基因677TT型(OR=3.872)为不分型CHD的危险因素,孕早期服中成药(OR=4.026)仅为VSD的危险因素。结论:一些危险因素可能会引起多个部位的先天性心血管畸形,而某些危险因素仅引起某一部位的先天性心血管畸形,各类型CHD的致病因素存在着各自特有的危险因素的可能。     

Recurrence risk for major congenital heart defects in Sweden: A registry study

During the period 1981–1986, 1605 infants presenting a major congenital heart defect (CHD) were identified in Sweden. Using the personal identification numbers of the mothers, 1507 of them could be linked to the Medical Birth Registry and two controls were selected for each infant. For this total of 4521 infants, 2686 postoccurrence sibs born during the period 1981–1989 were identified from the Medical Birth Registry. The tendency to have one or more sibs was higher among cases than among controls and was correlated to the life status of the proband. This tendency did not vary according to the type of CHD when controlling for life status. The prevalence at birth of CHD was almost four times higher among sibs of CHD infants than among sibs of normal infants. The tendency to have a sib with an extracardiac malformation did not differ between CHD probands and normal probands. The importance of only including births occurring after the proband when evaluating recurrence risks is stressed. © 1994 Wiley-Liss, Inc.     

Nausea during pregnancy and congenital heart defects: a population-based case-control study

The authors investigated the possible association between a mother's nausea during pregnancy and her child's risk for a congenital heart defect using data from the population-based Atlanta Birth Defects Case-Control Study conducted in 1982-1983. Case infants (n = 998) had nonsyndromic congenital heart defects and control infants (n = 3,029) had no congenital defects. Nausea during pregnancy (NP) was graded in eight levels of "severity" based on its onset, frequency, and duration. Level 1, the most severe NP, was associated with a lower risk for a congenital heart defect in the child (odds ratio (OR) = 0.81, 95% confidence interval (CI) 0.67-0.99) compared with no nausea. The lower risk tended to disappear with less severe levels of nausea, and the trend was statistically significant. Overall, early NP (levels 1 to 4 combined) with use of antinausea medication, particularly Bendectin (doxylamine, dicyclomine (dropped from the formulation in 1976), pyridoxine (vitamin B6)), was associated with a lower risk for congenital heart defects compared with: 1) absence of nausea (OR = 0.67, 95% CI 0.50-0.92), and 2) nausea without medication use (OR = 0.70, 95% CI 0.50-0.94). The results suggest that pregnancy hormones and factors or, alternatively, a component of Bendectin (most probably pyridoxine) may be important for normal heart development. These findings outline potential areas for future research on and prevention of congenital heart defects.     

广东省流动和常住人口先天性心脏病危险因素的差异分析

目的研究流动人口与常住人口中先天性心脏病(CHD)危险因素的差异。方法按病例对照研究方法, 在界定的危险因素范围内, 对流动和常住人口中各危险因素进行单因素及多因素非条件logistic(ENTER法)回归分析, 并比较两人群调整后的危险因素种类和OR值。结果入选流动人口病例855例, 对照617例;常住人口病例1673例, 对照1912例。流动人口特有的危险因素是孕母孕早期被动吸烟, 特有的保护因素是家庭月收入高(≥1201元);常住人口特有的危险因素是孕母糖尿病、梅毒感染、住装修半年居室以及胎婴儿为巨大儿。孕母文化程度高在流动人口中为危险因素, 在常住人口中是保护因素。产次、孕母孕早期病毒感染、孕母接触化学制剂、孕母异常生育史等因素的OR值在流动人口中高于常住人口;孕母孕早期发热、胎婴儿低体重的OR值在流动人口中低于常住人口。结论流动和常住人口各自有CHD危险因素, 多个危险因素在不同人群中的风险有明显差异。     

孕早期不同类型心理社会应激对先天性心脏病的影响

目的:探讨孕早期不同类型心理社会应激与先天性心脏病的关系,为先天性心脏病的预防提供依据。方法:使用自编调查问卷,对86例先天性心脏病患儿和按照1∶2原则匹配性别、年龄、出生地选择的172例正常对照儿童的母亲分别进行面对面问卷调查。使用SPSS 10.0统计学软件进行统计分析。结果:孕早期总负性心理社会应激性生活事件数量在文化程度低的孕妇中高于文化程度较高的孕妇,差异具有统计学意义(P<0.05)。先天性心脏病主要为房间隔缺损(41.9%)和室间隔缺损(33.7%)。孕早期急性负性心理社会应激性生活事件数量先天性心脏病组高于对照组,差异具有统计学意义(P<0.05)。结论:孕早期急性负性心理社会应激可能对子代先天性心脏病的发病影响更大,文化程度较低的孕妇群体更加应该引起关注。