A local congenital anomalies register: monitoring preventive interventions.

BACKGROUND: There is need for good quality data on congenital anomalies for monitoring (1) interventions for primary prevention and (2) prenatal diagnosis with advice on termination of affected pregnancies. METHOD: A register was compiled of congenital anomalies arising among births to Leeds residents in an 18 month period (13,596) and terminations (3015) in a related pregnancy cohort. Multiple sources of ascertainment were used and the full range of structural anomalies was included. RESULTS: The total incidence of anomalies (excluding spontaneous abortions) was 1.31 per cent. Incidence rates for the major categories are reported and compared with birth prevalence rates from British studies in the 1950-1960s. It was found that 31.3 per cent of the known anomalies were aborted; 2.26 per cent of the legal abortions were for a congenital anomaly. The overall birth prevalence rate was 1.10 per cent. Neural tube defects are used as an example of the use of a local congenital anomalies register in auditing preventive measures. CONCLUSION: A local congenital anomalies register is a valuable instrument in monitoring the impact of preventive measures, but it should include data on legal terminations as well as cases detected at birth and subsequently.     

Infant mortality and congenital anomalies from 1950 to 1994: an international perspective

STUDY OBJECTIVE: To provide an international perspective on the impact of congenital anomalies on infant mortality from 1950 to 1994. DESIGN: Population-based study based on data obtained from vital statistics reported to the World Health Organisation. SETTINGS: 36 countries from Europe, the Middle East, the Americas, Asia, and the South Pacific. RESULTS: On average, infant mortality declined 68.8 per cent from 1950 to 1994. In the countries studied, infant mortality attributable to congenital anomalies decreased by 33.4 per cent, although it recently increased in some countries in Central and Latin America and in Eastern Europe. Anomalies of the heart and of the central nervous system accounted for 48.9 per cent of infant deaths attributable to congenital anomalies. During 1990-1994, infant mortality attributable to congenital anomalies was inversely correlated to the per capita gross domestic product in the countries studied. At the same time, the proportion of infant deaths attributable to congenital malformations was directly correlated with the per capita gross domestic product. CONCLUSIONS: Congenital malformations account for an increasing proportion of infant deaths in both developed and developing countries. Infant mortality attributable to congenital anomalies is higher in poorer countries although as a proportion of infant deaths it is greater in wealthier countries. Conditions such as spina bifida, whose occurrence can be reduced through preventive strategies, still cause many infant deaths. The apparent increase of infant mortality because of congenital anomalies in some countries should be investigated to confirm the finding, find the causes, and provide prevention opportunities.     

Chlorination disinfection by-products and risk of congenital anomalies in England and Wales

BACKGROUND: Increased risk of various congenital anomalies has been reported to be associated with trihalomethane (THM) exposure in the water supply. OBJECTIVES: We conducted a registry-based study to determine the relationship between THM concentrations and the risk of congenital anomalies in England and Wales. METHODS: We obtained congenital anomaly data from the National Congenital Anomalies System, regional registries, and the national terminations registry; THM data were obtained from water companies. Total THM (< 30, 30 to < 60, > or =60 microg/L), total brominated exposure (< 10, 10 to < 20, > or =20 microg/L), and bromoform exposure (< 2, 2 to < 4, > or =4 microg/L) were modeled at the place of residence for the first trimester of pregnancy. We included 2,605,226 live births, stillbirths, and terminations with 22,828 cases of congenital anomalies. Analyses using fixed- and random-effects models were performed for broadly defined groups of anomalies (cleft palate/lip, abdominal wall, major cardiac, neural tube, urinary and respiratory defects), a more restricted set of anomalies with better ascertainment, and for isolated and multiple anomalies. Data were adjusted for sex, maternal age, and socioeconomic status. RESULTS: We found no statistically significant trends across exposure categories for either the broadly defined or more restricted sets of anomalies. For the restricted set of anomalies with isolated defects, there were significant (p < 0.05) excess risks in the high-exposure categories of total THMs for ventricular septal defects [odds ratio (OR) = 1.43; 95% confidence interval (CI), 1.00-2.04] and of bromoform for major cardiovascular defects and gastroschisis (OR = 1.18; 95% CI, 1.00-1.39; and OR = 1.38; 95% CI, 1.00-1.92, respectively). CONCLUSION: In this large national study we found little evidence for a relationship between THM concentrations in drinking water and risk of congenital anomalies.     

亚甲基四氢叶酸还原酶基因多态性与母儿结局

亚甲基四氢叶酸还原酶基因 6 77C→T突变是引起亚甲基四氢叶酸还原酶活性降低、高同型半胱氨酸血症、高危妊娠和胎儿畸形的重要遗传学因素。该文就近年来亚甲基四氢叶酸还原酶基因多态性与高危妊娠和胎儿畸形关系做一简要综述。     

Inferences on the inheritance of congenital anomalies from temporal and spatial patterns of occurrence

Most congenital anomalies are believed to result from interactions between genetic and environmental determinants, whose relative importance is not generally established. Temporal and spatial patterns allow inferences on the underlying transmission processes; in particular, it is possible to discriminate between sporadic and nonsporadic genetic factors, and to find evidence for the effects of environmental heterogeneity in time and space. We studied the occurrence of 14 anomalies in 14 registries of Western Europe. Four basic patterns have been identified: (1) Chromosomal abnormalities have uniform incidences and do not show significant geographical variation, in agreement with the expected consequences of randomly scattered nondisjunction events. (2) The homogeneous spatial distributions of three severe malformations (renal agenesis, oesophageal atresia, ano-rectal atresia) are consistent with both the effects of fresh mutation and segregation of detrimental alleles. (3) A decrease of similarity of incidences with distance has been observed for neural tube defects, and this is the expected consequence of isolation by distance on genetically determined traits. (4) For facial clefts, polydactyly, and hypospadias, all postulated processes poorly account for the observed temporal and spatial patterns.     

Maternal exposure to ambient air pollutants and risk of congenital anomalies

Studies have suggested an association between maternal exposure to ambient air pollution and risk of congenital anomaly. The aim of this study is to investigate the association between exposure to black smoke (BS; particulate matter with aerodynamic diameter <4 μg/m³) and sulphur dioxide (SO₂) during the first trimester of pregnancy and risk of congenital anomalies. We used a case-control study design among deliveries to mothers resident in the UK Northern health region during 1985-1990. Case data were ascertained from the population-based Northern Congenital Abnormality Survey and control data from national data on all births. Data on BS and SO₂ from ambient air monitoring stations were used to average the total pollutant exposure during the first trimester of pregnancy over the daily readings from all monitors within 10 km of the mother's residence. Logistic regression models estimated the association via odds ratios. A significant but weak positive association was found between nervous system anomalies and BS (OR=1.10 per increase of 1000 μg/m³ total BS; 95% CI: 1.03, 1.18), but not with other anomaly subtypes. For SO₂, a significant negative association was found with congenital heart disease combined and patent ductus arteriosus: OR significantly <1 for all quartiles relative to the first quartile. The relationship between SO₂ levels and other anomaly subtypes was less clear cut: there were either no significant associations or a suggestion of a U-shaped relationship (OR significantly <1 for moderate compared to lowest levels, but not with high SO₂ levels). Overall, maternal exposure to BS and SO₂ in the Northern region had limited impact on congenital anomaly risk. Studies with detailed exposure assessment are needed to further investigate this relationship.     

Congenital anomalies in Iran: a cross-sectional study on 1574 cases in the North-West of country

BACKGROUND: At least one congenital anomaly is present in between 1% and 6% of all infants throughout the world. The aim of this study was to document some epidemiological features of congenital anomalies in the North-West of Iran. METHODS: The study cases (n = 1574) comprised all births registered/notified to three university-hospitals of Tabriz University of Medical Sciences, Iran, from 2000 to 2004. RESULTS: Total prevalence of congenital anomalies was 165.5 per 10 000 births [95% confidence interval (CI): 157-174]. Genito-urinary tract and kidney defects, anomalies of nervous system and limb anomalies accounted proportionally for more than 65% of anomalies in the region. The total prevalence of congenital anomalies in the study area increased from 104.6 per 10 000 births in 2000 (95% CI: 90-119) to 170.1 per 10 000 births in 2004 (95% CI: 152-189). CONCLUSIONS: It is concluded that the data from this cross-sectional study of congenital anomalies in the North-West of Iran may be used as the baseline information to establish a population-based registry of birth defects in the area for health care and research purposes.     

Parental satisfaction with follow‐up services for children with major anatomical congenital anomalies

Background Since 1999 a multidisciplinary follow‐up programme for parents and children with major anatomical congenital anomalies is in place in our hospital, run by a dedicated team. The aim of the present study was to evaluate the services of this team from a parental perspective. Methods Parents completed a questionnaire including open and closed questions about satisfaction with the various professional disciplines involved in the follow‐up, statements on usefulness of the follow‐up services and suggestions for improvement. Results Four hundred and sixty‐nine surveys were sent out, of which 71% were returned. Non‐responding parents included significantly more parents of non‐Dutch origin (P= 0.038) and parents who never responded to invitations for follow‐up examinations (P < 0.001). Parental satisfaction differed for the various disciplines. Eighty per cent of the parents were (very) satisfied with the social worker, compared with 92% with nurses. More than half of the parents agreed that the follow‐up services give peace of mind. Almost a quarter of parents, however, considered the follow‐up services as redundant. The children of these parents had significantly shorter intensive care unit stay (P= 0.02), were older at the time of the questionnaire (P= 0.04), of higher socio‐economic status (P= 0.001) and less likely to be of non‐Dutch origin (P= 0.008). Sixty‐one per cent of the parents had contacted the 24‐h helpline. Ninety per cent of the parents were satisfied with the intensive care unit, almost 80% with the general ward. Conclusion Overall, parents were satisfied with the services of the follow‐up team. Some parents, however, saw room for improvement related to better communication, recognizability of the team and better planning and organization.     

不同户籍类型围生儿死亡相关因素的研究

目的:分析不同户籍类型围生儿死亡的特点,比较二者之间的死亡原因及孕期保健的差异及围生儿死亡评审的效果。方法:对1998年1月~2007年12月的围生儿死亡、死亡评审和孕产妇系统管理资料进行回顾性分析,结果用卡方检验进行统计学分析。结果:10年围生儿死亡率平均为13.59‰,其中流动人口平均为20.12‰,常住人口平均为9.65‰,两组差异有统计学意义(P<0.001);常住人口的孕产妇系统管理率、早孕建卡率、产前检查率、≥8次产前检查率明显高于流动人口,两组差异有统计学意义(P值均<0.001),常住人口围生儿死亡率评审干预前、后比较呈下降趋势,差异有统计学意义(P<0.001),流动人口围生儿死亡率评审干预前、后比较,差异无统计学意义(P>0.05)。结论:加强流动人口的孕产期系统保健,特别是孕早、中期保健,做好孕中期出生缺陷筛查并及时在妊娠28周前确诊及处理,落实死亡评审干预措施,提供产前保健项目资助,是降低围生儿死亡率的关键。     

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.     

Arsenic in drinking water and congenital heart anomalies in Hungary

Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n = 9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n = 5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 μg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 μg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR = 1.41; 95% C.I.: 1.28–1.56), and especially that of ductus Botalli persistens (adjusted OR = 1.81, 95%C.I.: 1.54–2.11) and atrial septal defect (adjusted OR = 1.79; 95%C.I.: 1.59–2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 μg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 μg/L are warranted.     

Birth defects monitoring

Population monitoring of birth defects provides a means for detecting relative changes in their frequency. Many varied systems have been developed throughout the world since the thalidomide tragedy of the early 1960s. Although it is difficult to pinpoint specific teratogenic agents based on rises in rates of a particular defect or a constellation of defects, monitoring systems can provide clues for hypothesis testing in epidemiological investigations. International coordination of efforts in this area resulted in the founding of the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS) in 1974. In this paper we will describe the functions and basic requirements of monitoring systems in general, and look at the development and activities of the ICBDMS. A review of known and suspected environmental teratogenic agents (eg, chemical, habitual, biological, physical, and nutritional) is also presented.     

The association of air pollution with congenital anomalies: An exploratory study in the northern Netherlands

Background

There are a growing number of reports on the association between air pollution and the risk of congenital anomalies. However, the results are inconsistent and most studies have only focused on the association of air pollution with congenital heart defects and orofacial clefts.

彩色多普勒超声在脐动脉舒张期血流异常胎儿结构畸形的诊断价值研究

目的研究彩色多普勒超声在脐动脉舒张期血流异常胎儿结构畸形的诊断价值。方法选取2011年8月—2013年8月在我院我科治疗的胎儿结构畸形孕妇77例作为观察组,选取同期正常胎儿孕妇93例作为对照组,行彩色多普勒超声检查脐动脉舒张期血流,对两组胎儿的脐动脉舒张期血流是否异常进行比较。结果对照组胎儿共93例,其中脐动脉舒张期血流正常为82例,异常为11例;观察组畸形合计77例,其中脐动脉舒张期血流正常37例,异常为40例,差异有统计学意义,P〈0.05。各类畸形中,多发系统畸形、颜面颈部畸形、心血管畸形、消化系统畸形、泌尿系统畸形、皮肤及皮下畸形、骨骼肌肉系统畸形脐动脉舒张期血流异常与正常对照组相比明显升高（P〈0.05）,而中枢神经系统畸形、联体儿畸形脐动脉舒张期血管异常与正常对照组相比差异没有统计学意义（P〉0.05）。结论彩色多普勒超声在脐动脉舒张期血流异常胎儿结构畸形的诊断中是十分有价值的,值得临床推广。     

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.     

我国液体推进剂监测和防护装备研究进展

通过对液体推进剂毒性毒理、液体推进剂监测装备和个人安全防护装备研究、应用情况的阐述,介绍了现阶段我国液体推进剂监测和个人安全防护装备研究中取得的成果和存在的问题,并对液体推进剂监测装备、呼吸防护装备、皮肤防护装备的研究发展趋势进行了展望,提出了建立液体推进剂安全防护体系的构想.     

An audit of the organisation of neonatal screening for phenylketonuria and congenital hypothyroidism in the Northern Region

Background

The objectives of the study were to identify whether all districts in the Northern Region had a system in place to ensure that all resident babies were being screened for phenylketonuria and congenital hypothyroidism and to identify potential delays which could influence whether a result was available on all residents before 28 days of age.

Methods

Lead professionals involved in the screening programmes were interviewed in 1993 in all 16 districts.Recommendations for improving the service were made to each district. Six months later a follow up telephone interview with the doctor involved in the screening programmes was undertaken to identify the changes that had been made in the service.

Results

In 1993 three districts made no attempt to match neonatal screening results to birth notifications. Of the 13 districts that undertook matching, two districts did no further checks to identify babies without a result and five districts undertook a check on a monthly basis only. Only six districts were, therefore, found to have a timely fail-safe system for checking that results were available for resident babies. In 1994, following recommendations to improve the timeliness and completeness of the screening programmes, all districts except-two had improved their fail-safe systems.

Conclusion

This multi-disciplinary regional audit resulted in organisational improvements to the neonatalmetabolic screening programmes in the Northern Region.