Prevalence of congenital abnormalities in Turkish school children

19750 school children, ages 6 to 15 years, were examined by the authors of this study. 1,220 (6.18%) had congenital abnormalities. In this group, 4.23% were boys and 1.88% were girls. Case histories revealed inbreeding amongst the parents (families) of children with congenital malformation to be 8.9% and 8.2% for the rest of the families in this study. There were 27 different congenital abnormalities identified, with prevalence rates of 0.05/1,000 to 15.85/1,000. The most prevalent abnormalities were umbilical hernia (15.85/1000), inguinal hernia (14.50/1,000), pectus carinatum and excavatum (7.68/1,000), undescended testes (9.00/1,000 boys), congenital nevus (3.54/1,000), retractile testis (4.45/1,000 boys), pilonidal sinus (2.63/1,000), pes planus (2.28/1,000), and hemangioma (1.16/1,000). Of the 19,750 children, 70 had multiple anomalies (3.75/1,000).     

围产儿先天性畸形的监测研究

目的 了解深圳市宝安区围产儿先天性畸形的发病情况和分布特征,为进一步研究提供参考。方法 对宝安区1997年1月1日～1999年12月31日住院分娩的围产儿进行了先天性畸形监测研究。结果 宝安区 1997～1999年3a围产儿先天性畸形总发生率为77.72/万。年发生率(1/万)1997～1999分别为66.58、81.86和82.29,常住和流动户口的围产儿分别为69.65和80.33,活产及死产儿分别为51.61和2310.23,两者差异非常显著(x~2=3374.95,P=0.001);性别发生率男(75.25)高于女(73.75),差异无显著性(x~2=0.026,P=0.873);年龄以孕母<20岁者为最高(129.31),不同孕母年龄差异非常显著(x~2=40.88,P=0.001);孕母职业以工人为最高(168.69),不同孕母职业差异非常显著(x~2=10331.87,P=0.001);城区(86.43)高于非城区(63.34),不同地区差异非常显著(x~2=278.68,P=0.001);季节以夏(89.12)、冬(92.22)季较高,不同季节差异非常显著(x~2=11.517,P=0.009)。发生率居前5位的畸形依次为:大腹儿(18.23)、短肢或缺肢畸形(8.42)、先天性脑积水(7.84)、唇裂合并腭裂(6.41)和唇裂(6.41)。结论 宝安区围产儿先天性畸形的发生率比国内部分地区监测的结果要高,且发生有自己的特点,值得进一步研究。     

Descriptive epidemiology of congenital heart disease in Northern England

Congenital heart disease (CHD) is the most prevalent group of congenital anomalies. There is considerable variation in the reported epidemiology of CHD, mainly attributable to methodological differences. Using register-based data, the current study describes the epidemiology of CHD in a geographically well-defined population of the North of England during 1985–2003.
The total prevalence of CHD was 85.9 per 10 000 births and terminations of pregnancy for fetal anomaly. Livebirth prevalence was 79.7 per 10 000 livebirths. Both total and livebirth prevalence increased during the study period. Ninety-two per cent of affected pregnancies resulted in a livebirth, 5% were terminated, 2% resulted in a stillbirth, and 1% in a late miscarriage. Almost a quarter (23%) of cases had one or more coincident anomalies of other organs, with chromosomal abnormalities the most frequent group. A total of 89.2% of cases survived to 1 year and the survival improved during the study period. This population-based study has demonstrated an increasing trend in both prevalence and survival among children with CHD.     

A cluster of congenital abnormalities particularly Down's syndrome in a small Hungarian village in 1989–90

A unique cluster of congenital abnormalities, particularly Down's syndrome and twins was detected in a small Hungarian village in 1989 and 1990. Of 15 livebirths, 11 had congenital abnormalities (within them 4 have affected by Down's syndrome) and 6 were twins. Different approaches of field studies and laboratory examinations indicated the germinal mutagenic and teratogenic effect of the excessive use of trichlorfon at local fish farms. Here the main experiences of this environmental abuse are summarised and the goals of ongoing studies are outlined.     

Ambient air pollution and risk of congenital anomalies: a systematic review and meta-analysis

Objective

We systematically reviewed epidemiologic studies on ambient air pollution and congenital anomalies and conducted meta-analyses for a number of air pollutant–anomaly combinations.

Data sources and extraction

From bibliographic searches we extracted 10 original epidemiologic studies that examined the association between congenital anomaly risk and concentrations of air pollutants. Meta-analyses were conducted if at least four studies published risk estimates for the same pollutant and anomaly group. Summary risk estimates were calculated for a) risk at high versus low exposure level in each study and b) risk per unit increase in continuous pollutant concentration.

Data synthesis

Each individual study reported statistically significantly increased risks for some combinations of air pollutants and congenital anomalies, among many combinations tested. In meta-analyses, nitrogen dioxide (NO₂) and sulfur dioxide (SO₂) exposures were related to increases in risk of coarctation of the aorta [odds ratio (OR) per 10 ppb NO₂ = 1.17; 95% confidence interval (CI), 1.00–1.36; OR per 1 ppb SO₂ = 1.07; 95% CI, 1.01–1.13] and tetralogy of Fallot (OR per 10 ppb NO₂ = 1.20; 95% CI, 1.02–1.42; OR per 1 ppb SO₂ = 1.03; 95% CI, 1.01–1.05), and PM₁₀ (particulate matter ≤ 10 μm) exposure was related to an increased risk of atrial septal defects (OR per 10 μg/m³ = 1.14; 95% CI, 1.01–1.28). Meta-analyses found no statistically significant increase in risk of other cardiac anomalies and oral clefts.

Conclusions

We found some evidence for an effect of ambient air pollutants on congenital cardiac anomaly risk. Improvements in the areas of exposure assessment, outcome harmonization, assessment of other congenital anomalies, and mechanistic knowledge are needed to advance this field.     

胎儿先天缺陷磁共振诊断的应用

快速磁共振成像技术的出现,在胎儿的形态学诊断的应用,已成为超声诊断的一项重要辅助手段.特别对胎儿中枢神经系统先天缺陷的诊断方面比超声提供更多的信息.对消化系统、泌尿系统畸形的诊断也有重要的辅助作用,而在肢端、心脏方面诊断不如超声.其适时性和伪影问题仍有待于进一步发展.     

Association of childhood rhabdomyosarcoma with neurofibromatosis type i and birth defects

Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma whose cause is largely unknown. Reported risk factors include genetic alterations (e.g., p53 mutations, a defective gene at 11p15.5, or specific chromosomal translocation of t(2:13)), and parents' use of drugs around the time of conception. We present results from a national, case-control study of 249 RMS cases (170 males and 79 females) and 302 controls (196 males and 106 females). The cases, aged 0–20 years at diagnosis, were identified via the Intergroup RMS Study-III during 1982–1988. Controls were selected by random digit telephone dialing. As a supplement to the original study, information on genetic diseases and birth defects (BD) was collected from the subjects' parents by telephone interview. Fifty-six (22.5%) cases and 55 (18.2%) controls were reported to have genetic diseases or BD (odds ratio [OR] = 1.30,95% confidence interval [CI] = 0.85–2.02, P = .21). The case group had a significantly higher frequency of neurofibromatosis type I (NF1) than did the control group, i.e., five cases (2.0%) had NF1 vs. zero controls (P = .02). The case group also had a higher frequency of major BDs than did the control group (6.0% vs. 2.6%, OR = 2.36, 95% CI = 0.92–6.52, P = .05). However, this excess was only observed in males (7.6% vs. 2.6%, OR = 3.16, 95% CI = 1.02–10.41, P = .02). Among the 15 cases having both RMS and major BDs, six (40.0%) had both conditions in the same regional anatomic site: Two (13.3%) had both in the extremities, two (13.3%) in the genitourinary system, and two in the head and neck. These findings suggest that common genetic mechanisms or in utero exposures may be invilved in the development of many childhood tumors and congenital abnormalities. ©1995 Wiley-Liss, Inc.     

厦门市2013-2018年围产儿出生缺陷监测情况分析

目的 分析厦门市围产儿出生缺陷发生情况及主要特征分布情况。方法 监测2013年1月1日至2018年12月31日厦门市34所开展助产技术服务的医疗机构出生的孕28周至生后7天的所有围产儿的出生缺陷情况。结果 2013-2018年厦门34所开展助产技术服务的医疗机构共住院分娩围产儿481262名,出生缺陷总发生率为129.97/万,出生缺陷发生率逐年提高。前5位出生缺陷类型为先天性心脏病(41.00/万)、多指（趾）(18.53/万)、耳畸形(7.58/万)、并指（趾）(5.57/万)、尿道下裂(4.68/万)。男性出生缺陷发生率(148.12/万)高于女性(107.39/万)（P＜0.001）,出生缺陷发生率呈现随产妇年龄增大而逐渐升高的趋势（P＜0.001）。城镇产妇所生围产儿出生缺陷总发生率(179.21/万)高于乡村(78.09/万)（P＜0.001）。结论 厦门市出生缺陷发生率低于全国水平,但近几年呈现逐年升高的趋势,出生缺陷存在性别、年龄、城乡差异。     

A higher risk of congenital anomalies in the offspring of personnel who served aboard a Norwegian missile torpedo boat

Background

In the 1990s, congenital anomalies were reported among children whose fathers had served aboard a Norwegian missile torpedo boat (MTB). The Royal Norwegian Navy asked the University of Bergen to look into this problem as one part of a general health and work environment surveillance.

Aims

To estimate any increased risk of having children with congenital anomalies and having stillborn children among the offspring of workers that had served aboard the MTB and to investigate possible differences in exposure and other risk factors between these groups.

Methods

Data from a cross‐sectional study among all current employees of the Norwegian Navy (n = 2265, response rate 58%) were analysed.

Results

The prevalence ratio of having a child with congenital malformations associated with working on the ship was 4.0 (95% CI 1.9 to 8.6). The prevalence ratio of having a child who was stillborn or died within one week was 4.1 (95% CI 1.7 to 9.9).

Conclusion

Service aboard the MTB was associated with an increased risk of having children with congenital birth defects and having children that were stillborn. The causes of these findings are unknown.     

Descriptive epidemiology of selected congenital heart defects, Hawaii, 1986-1999

Congenital heart defects are the most common type of birth defect and contribute the most to infant mortality due to birth defects. This study examined the relationship between several demographic factors and selected congenital heart defects among the unique multiethnic population in Hawaii during 1986-99, using data from a population-based birth defects registry. Rates were significantly higher in 1993-99 than in 1986-92 for transposition of the great arteries and Ebstein's anomaly, and significantly lower for tetralogy of Fallot. Significantly elevated rates were found with maternal age of > or =35 years for ventricular septal defect, atrial septal defect, endocardial cushion defect, and hypoplastic left heart syndrome. When cases with a known chromosomal abnormality were excluded, elevated rates among the older maternal age group remained for ventricular septal defect, atrial septal defect, and hypoplastic left heart syndrome. Whites had significantly higher rates than one or more of the other racial/ethnic groups for Ebstein's anomaly and coarctation of aorta, and significantly lower rates for tetralogy of Fallot, atrial septal defect, pulmonary valve atresia/stenosis, tricuspid valve atresia/stenosis, and anomalous pulmonary venous return. Significantly higher rates were found among males for transposition of great arteries, aortic valve stenosis, and interrupted aortic arch and, among females, for ventricular septal defect, endocardial cushion defect, and anomalous pulmonary venous return. Some of these differences were consistent with the literature while others were not.     

山东省平阴县2004-2017年先天性肾脏畸形流行病学特征分析

目的 分析平阴县先天性肾脏畸形流行病学特点和分布特征,为防治出生缺陷提供依据。方法 收集平阴县2004-2017年出生缺陷登记资料及出生人口资料,分析发病频率和历年发病趋势,比较不同性别和城乡之间发病频率分布差异,并绘制病例分布地图;描述先天性肾脏畸形的发病顺位、肾脏畸形儿特征以及临床诊断情况。结果 1)肾脏畸形发生率:平阴县2004-2017年先天性肾脏畸形共83例,发生率为17.06/10⁴。男女性别间发病率差异无统计学意义(P>0.05),城乡间发病率差异有统计学意义(P<0.05);发生率位居前三顺位的肾脏畸形是肾畸形(4.93/10⁴)、肾盂积水(4.52/10⁴)与肾缺失(3.50/10⁴)。2)流行病学三间分布特征:平阴县西北部城区附近及东南部平原地区病例分布较集中;不同肾脏畸形存在时间聚集性,肾盂积水和肾畸形发生主要集中在2007年前后,并于2016年后呈明显增加趋势;男性肾盂积水发病率高于女性,而女性肾缺失的发病率高于男性,差异均有统计学意义(P均<0.05)。3)临床特征、诊断与转归 先天性肾脏畸形产前孕28周之前诊断比例为27.71%,应用过超声检查确诊比例为97.59%;双肾缺陷比例为39.76%,单发肾脏畸形比例占83.13%;活产儿占50.60%,死胎死产儿占49.40%。结论 平阴县先天性肾脏畸形发生率明显高于国内其他地区,且存在地区、时间、性别聚集性,提示可能存在区域性危险因素;应加强孕28周产前诊断能力,提高先天性肾脏畸形早期发现率。     

2001-2010年北京市5岁以下儿童先天异常死亡状况分析

【目的】 了解2001-2010年北京市5岁以下儿童先天异常死亡的变化趋势。 【方法】 采用北京市儿童生命监测网收集的数据,计算出5岁以下儿童先天异常死亡专率、构成比和年龄分布情况。 【结果】 1)北京市5岁以下儿童先天异常死亡专率由2001年的227.1/10⁵下降至2010年的97.1/10⁵;2)北京市城市先天心脏病、神经管畸形、先天愚型均显著下降;农村神经管畸形、先天愚型下降不显著;3)先天异常死亡占5岁以下儿童死亡的比例由2001年的29.2%下降至2010年的23.1%;4)5岁以下儿童先天异常死亡主要发生在婴儿期,尤其是新生儿期。 【结论】 北京市先天发育异常儿童死亡已经成为5岁以下儿童主要死因,需进一步加强农村地区相关疾病的预防水平。     

空间流行病学与分子流行病学结合分析在结核病研究中的应用进展

空间流行病学和分子流行病学方法在结核病研究中已广泛使用,但二者均具有各自的局限性,而二者的结合则为结核病研究提供了新的思路和方法。文中所有引用文章均来自中国知网、万方数据知识服务平台、PubMed和Web of Science四个数据库。空间流行病学和分子流行病结合的方法在国外的结核病研究中已广泛使用,在确定区域地方性的流行菌株基因型、结核病传播方式及危险因素分析、耐药结核病、结核病防控措施等方面均具有重要意义,值得国内该领域的研究学者和疾病防控工作者进行借鉴和学习。     

Positive correlation between pesticide sales and central nervous system and cardiovascular congenital abnormalities in Brazil

Background: This study investigated the association between pesticide exposure in Brazil (2005–2013) with rates of central nervous system (CNS) and cardiovascular system (CVS) congenital abnormalities in 2014. Method: An exposure variable was established from data on production and sales of pesticides (kg) per crop area (ha) for 2012 and 2013 years. The Brazilian states were divided into three categories: high, medium, and low pesticide use and rate ratios were estimated for each group of states (CI: 95 %). Results: In 2013 and 2014, the high use group presented a 100 and a 75 % increase, and the medium group a 65 and 23 % increase, respectively, in the risk of CNS and CVS congenital abnormalities at birth, compared to the low use group. Conclusion: These findings suggest that pesticide exposure could be associated with increased risk of congenital malformations at birth in Brazil.     

乌鲁木齐3~36月龄儿童先心病危险因素调查

目的 了解乌鲁木齐地区3~36月龄儿童先天性心脏病(先心)的患病情况及其流行特征.方法 对2014年6月至2015年2月在乌鲁木齐市妇幼保健院儿保科门诊进行健康体检的3~36月龄儿童开展先天性心脏病的普查,对所有儿童进行问诊、体格检查和彩色多普勒超声心动图检查,并对先天性心脏病的患病率、病种分布及影响因素进行统计学分析.结果 共确诊先天性心脏病儿童56名,其中房间隔缺损16人(0.59%)、室间隔缺损23人(0.84%)、动脉导管未闭11人(0.40%);对27项影响因素进行Logistic回归分析发现:是否患先天性心脏病与患儿月龄(χ2=-3.97,P=0.000)、家距马路距离(χ2=6.74,P=0.000)、孕期宫内发育迟缓(χ2=2.96,P=0.003)、宫内窘迫(χ2=4.59,P=0.000)有关联,且差异均具有统计学意义;同时与母亲孕龄(χ2=2.38,P=0.017)、孕期体检次数(χ2=-6.34,P=0.000)、孕期是否患有上呼吸道感染(χ2=5.52,P=0.000)及不良嗜好(χ2=4.81,P=0.000)有关联,且差异均具有统计学意义.结论 该地区儿童先天性心脏病检出率高于全国水平,先天性心脏病的构成比与同类文献报道相似;孕妇健康状况对先天性心脏病的发生有明显影响,应高度关注.     

不同人群先天畸形影响因素比较

目的探讨不同人群与围生儿先天畸形发生的相关影响因素，为适宜的社区人群干预对策与措施提供科学依据。方法采用病例对照研究方法，以随机抽样方法抽取农村与城市先天畸形病例，其中城市169例，农村205例。对照组按1：1配比的方法选择出生正常的婴幼儿374例。调查对象均用统一问卷和调查方法。并采集血清标本进行实验室分析。数据用条件Logistic回归模型进行分析。结果城市人群与先天畸形相关的因素为孕妇知孕时间长(OR=5．490，PAR%=13．91％)、孕早期发热(OR=3．352，PAR%=12．18％)、孕早期服用解热镇痛药(OR=3．501，PAR%=13．98％)、孕早期接触化学毒物(OR=3．147，PAR%=8．09％)、父亲接触有害物(OR=4．495，PAR%=9．49％)、负性生活事件(OR=1．113，PAR%=2．48％)；农村人群与先天畸形相关的因素为孕妇知孕时间长(OR=3．850，PAR%=13．34％)、孕期服药(OR=3．952，PAR%=28．82％)、孕早期营养(OR=0．220。PAR%=16．03％)、既往巨细胞病毒感染(OR=2．760，PAR%=16．06％)、母亲优生知识知晓程度(OR=0．305。PAR%=18．08％)、负性生活事件(OR=1．506，PAR%=3．56％)。结论城市、农村人群先天畸形的影响因素及其作用强度不相同，应针对不同人群制订相关的干预对策与措施。