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Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. [ABSTRACT FROM AUTHOR]

ABSTRACT Purpose The increase in online purchasing of medications raises safety concerns regarding teratogenic drugs. The use of the teratogenic drug 'isotretinoin' for women of childbearing age requires strict adherence to the Pregnancy Prevention Programme (PPP), a risk minimisation measure imposed on prescribers and users. We sought to determine how readily consumers can purchase isotretinoin online and the associated safety procedures and information. Methods A descriptive cross-sectional survey was conducted of 50 e-pharmacies identified from commonly used search engines. E-pharmacy characteristics and isotretinoin PPP specific criteria were evaluated. Purchases of isotretinoin from seven e-pharmacies not bearing authentication logos and not requiring a prescription were assessed for PPP policy adherence, purchasing procedures and compound quality. Results Forty-three (86%) of the e-pharmacies did not have an authentication seal/logo. Isotretinoin could be purchased from 42 sites without a valid prescription. Information on isotretinoin causing birth defects was lacking in 25 of the 50 sites, on not taking isotretinoin in pregnancy in 24 sites and not taking isotretinoin if planning or at risk of a pregnancy in 33 sites. Of the eight attempted purchases, seven arrived, all without any patient information leaflet. All were verified as isotretinoin. Conclusion The Internet provides a loophole for purchasing of medications known to cause congenital abnormalities, which needs to be addressed by medicines regulatory agencies worldwide. The current PPP for isotretinoin may be failing to protect mothers and babies from preventable harm-clinicians need to be aware of this, and the public needs to be educated about the potential risks. © 2014 The Authors. Pharmacoepidemiology and Drug Safety published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe ( P = 0.0003). Consanguinity was present in 7/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Background Improving the health of expectant mothers and reductions in health inequalities, are repeatedly prioritised in policy reports in England and Northern Ireland. Measurement of underlying rates, and geographical variation in rates, of adverse birth outcomes are tools in monitoring these priorities. Methods Northern Ireland data on stillbirths, infant mortality and low birth weight (1992-2002) were linked to board (n=4), district council (n=26) and 1991 census wards (n=568). Underlying variations in rates were estimated at each geographical level, unadjusted and controlling for year, ward-level deprivation, settlement size and higher geographical levels. Impacts on geographical variation of individual social class, maternal age, multiple birth and smoking were assessed. Results There was significant variation in underlying rates of low birth weight (<2500 g) at all three geographical levels. Controlling for smoking reduced variation between wards. Geographical variation proved more robust for medium than for very low birth weight. No variation was seen between boards for other outcomes, nor between district level rates of infant mortality. Evidence was weak for variation in district rates of neonatal deaths and stillbirths, and variation in ward-level adjusted stillbirth rates was not significant. Variation in ward-level infant death rates was robust to all adjustments, with risks tripling (infant mortality) or quadrupling (neonatal mortality) between the 10th and 90th percentile. Conclusions Strong evidence was found of geographical variation in infant mortality and low birth weight, unexplained by individual risk factors or by area-level deprivation. Geographical targeting or area-level interventions might look beyond deprivation scores, to other environmental and social factors. [ABSTRACT FROM AUTHOR]

The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for fetal anomaly. EUROCAT's policy is to strive for high-quality data, while ensuring consistency and transparency across all member registries. A set of 30 data quality indicators (DQIs) was developed to assess five key elements of data quality: completeness of case ascertainment, accuracy of diagnosis, completeness of information on EUROCAT variables, timeliness of data transmission, and availability of population denominator information. This article describes each of the individual DQIs and presents the output for each registry as well as the EUROCAT (unweighted) average, for 29 full member registries for 2004-2008. This information is also available on the EUROCAT website for previous years. The EUROCAT DQIs allow registries to evaluate their performance in relation to other registries and allows appropriate interpretations to be made of the data collected. The DQIs provide direction for improving data collection and ascertainment, and they allow annual assessment for monitoring continuous improvement. The DQI are constantly reviewed and refined to best document registry procedures and processes regarding data collection, to ensure appropriateness of DQI, and to ensure transparency so that the data collected can make a substantial and useful contribution to epidemiologic research on congenital anomalies. Birth Defects Research (Part A), 2011. © 2011 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

OBJECTIVE The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHODS The six indicators are: (1) congenital anomaly perinatal mortality, (2) congenital anomaly prenatal diagnosis prevalence, (3) congenital anomaly termination of pregnancy, (4) Down syndrome livebirth prevalence, (5) congenital anomaly pediatric surgery, and (6) neural tube defects (NTD) total prevalence. Data presented for this report pertained to all cases (livebirths, fetal deaths, or stillbirths after 20 weeks of gestation and terminations of pregnancy for fetal anomaly [TOPFA]) of congenital anomaly from 27 full member registries of EUROCAT that could provide data for at least 3 years during the period 2004 to 2008. Prevalence of anomalies, prenatal diagnosis, TOPFA, pediatric surgery, and perinatal mortality were calculated per 1000 births. RESULTS The overall perinatal mortality was approximately 1.0 per 1000 births for EUROCAT registries with almost half due to fetal and the other half due to first week deaths. There were wide variations in perinatal mortality across the registries with the highest rates observed in Dublin and Malta, registries in countries where TOPFA are illegal, and in Ukraine. The overall perinatal mortality across EUROCAT registries slightly decreased between 2004 and 2008 due to a decrease in first week deaths. The prevalence of TOPFA was fairly stable at about 4 per 1000 births. There were variations in livebirth prevalence of cases typically requiring surgery across the registries; however, for most registries this prevalence was between 3 and 5 per 1000 births. Prevalence of NTD decreased by about 10% from 1.05 in 2004 to 0.94 per 1000 in 2008. CONCLUSION It is hoped that by publishing the data on EUROCAT indicators, the public health importance of congenital anomalies can be clearly summarized to policy makers, the need for accurate data from registries emphasized, the need for primary prevention and treatment services highlighted, and the impact of current services measured. Birth Defects Research (Part A), 2011.© 2011 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

BACKGROUND As part of EUROCAT's surveillance of congenital anomalies in Europe, a statistical monitoring system has been developed to detect recent clusters or long-term (10 year) time trends. The purpose of this article is to describe the system for the identification and investigation of 10-year time trends, conceived as a 'screening' tool ultimately leading to the identification of trends which may be due to changing teratogenic factors. METHODS The EUROCAT database consists of all cases of congenital anomalies including livebirths, fetal deaths from 20 weeks gestational age, and terminations of pregnancy for fetal anomaly. Monitoring of 10-year trends is performed for each registry for each of 96 non-independent EUROCAT congenital anomaly subgroups, while Pan-Europe analysis combines data from all registries. The monitoring results are reviewed, prioritized according to a prioritization strategy, and communicated to registries for investigation. Twenty-one registries covering over 4 million births, from 1999 to 2008, were included in monitoring in 2010. CONCLUSIONS Significant increasing trends were detected for abdominal wall anomalies, gastroschisis, hypospadias, Trisomy 18 and renal dysplasia in the Pan-Europe analysis while 68 increasing trends were identified in individual registries. A decreasing trend was detected in over one-third of anomaly subgroups in the Pan-Europe analysis, and 16.9% of individual registry tests. Registry preliminary investigations indicated that many trends are due to changes in data quality, ascertainment, screening, or diagnostic methods. Some trends are inevitably chance phenomena related to multiple testing, while others seem to represent real and continuing change needing further investigation and response by regional/national public health authorities. Birth Defects Research (Part A), 2011.© 2011 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71-2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46-0.64), 1.04 (95% CI 0.92-1.17) and 0.30 (95% CI 0.24-0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19-5.36 per 1000), proportion prenatally diagnosed (50-100%) and proportion of prenatally diagnosed resulting in TOPFA (13-67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors. [ABSTRACT FROM AUTHOR]

Aim Our aim was to determine the proportion of children with cerebral palsy (CP) who have a congenital anomaly (CA) in three regions (Isère Region, French Alps; Funen County, Denmark; Northern Region, England) where population-based CP and CA registries exist, and to classify the children according to CA subtype. Method Data for children born between 1991 and 1999 were linked using electronic matching of cases. All potential matches were checked manually by each centre and verified as true matches. Results A total of 1104 children with CP were born during the study period (663 males, 441 females). Of these, 166 (15%; 95% Confidence Interval [CI] 13.0–17.3) children with CP had a CA: 8.8% had a cerebral anomaly, 4.8% had a non-cerebral anomaly, and 1.4% had a non-cerebral-related syndrome or a chromosomal/genetic anomaly. Interpretation The prevalence of cerebral anomaly was highest in children with ataxic CP (41.7%) and lowest in those with dyskinetic CP (2.1%). Cerebral anomalies were found in 8.4% and 7% of children with bilateral and unilateral spastic CP respectively. The most frequent cerebral anomalies were primary microcephaly (26.5%) and congenital hydrocephalus (17.3%). The most common non-cerebral anomalies recorded were cardiac (12.6% of children with CP and CA), urinary (5.4%), and musculoskeletal (5.4%). The prevalence of cerebral anomalies was higher among children born at term (13%) than among those born preterm (3.8%). Associated sensorineural or intellectual impairments occurred more often in children with CP and cerebral anomalies. We concluded that cerebral and non-cerebral CA prevalence was higher among the CP population than in the general population of live births. [ABSTRACT FROM AUTHOR]

Dolk H, Pattenden S, Bonellie S, Colver A, King A, Kurinczuk JJ, Parkes J, Platt MJ, Surman G. Socio-economic inequalities in cerebral palsy prevalence in the United Kingdom: a register-based study. Paediatric and Perinatal Epidemiology 2010; 24: 149–155. Evidence is unclear as to whether there is a socio-economic gradient in cerebral palsy (CP) prevalence beyond what would be expected from the socio-economic gradient for low birthweight, a strong risk factor for CP. We conducted a population-based study in five regions of the UK with CP registers, to investigate the relationship between CP prevalence and socio-economic deprivation, and how it varies by region, by birthweight and by severity and type of CP. The total study population was 1 657 569 livebirths, born between 1984 and 1997. Wards of residence were classified into five quintiles according to a census-based deprivation index, from Q1 (least deprived) to Q5 (most deprived). Socio-economic gradients were modelled by Poisson regression, and region-specific estimates combined by meta-analysis. The prevalence of postneonatally acquired CP was 0.14 per 1000 livebirths overall. The mean deprivation gradient, expressed as the relative risk in the most deprived vs. the least deprived quintile, was 1.86 (95% confidence interval [95% CI 1.19, 2.88]). The prevalence of non-acquired CP was 2.22 per 1000 livebirths. For non-acquired CP the gradient was 1.16 [95% CI 1.00, 1.35]. Evidence for a socio-economic gradient was strongest for spastic bilateral cases (1.32 [95% CI 1.09, 1.59]) and cases with severe intellectual impairment (1.59 [95% CI 1.06, 2.39]). There was evidence for differences in gradient between regions. The gradient of risk of CP among normal birthweight births was not statistically significant overall (1.21 [95% CI 0.95, 1.54]), but was significant in two regions. There was non-significant evidence of a reduction in gradients over time. The reduction of the higher rates of postneonatally acquired CP in the more socioeconomically deprived areas is a clear goal for prevention. While we found evidence for a socio-economic gradient for non-acquired CP of antenatal or perinatal origin, the picture was not consistent across regions, and there was some evidence of a decline in inequalities over time. The steeper gradients in some regions for normal birthweight cases and cases with severe intellectual impairment require further investigation. [ABSTRACT FROM AUTHOR]

Background: There is growing concern that moderate levels of outdoor air pollution may be associated with infant mortality, representing substantial loss of life-years. To date, there has been no investigation of the effects of outdoor pollution on infant mortality in the UK. Methods: Daily time-series data of air pollution and all infant deaths between 1990 and 2000 in 10 major cities of England: Birmingham, Bristol, Leeds, Liverpool, London, Manchester, Middlesbrough, Newcastle, Nottingham and Sheffield, were analysed. City-specific estimates were pooled across cities in a fixed-effects meta-regression to provide a mean estimate. Results: Few associations were observed between infant deaths and most pollutants studied. The exception was sulphur dioxide (SO2), of which a 10 μg/m³ increase was associated with a RR of 1 .02 (95% CI 1.01 to 1.04) in all infant deaths. The effect was present in both neonatal and postneonatal deaths. Conclusions: Continuing reductions in SO2 levels in the UK may yield additional health benefits for infants. [ABSTRACT FROM AUTHOR]

Gastroschisis is an abdominal wall defect more prevalent in offspring of young mothers. It is known to be increasing in prevalence despite the general decrease in the proportion of births to young European women. We investigated whether the increase in prevalence was restricted to the high-risk younger mothers. We analysed 936 cases of gastroschisis from 25 population-based registries in 15 European countries, 1980–2002. We fitted a Bayesian Hierarchical Model which allowed us to estimate trend, to estimate which registries were significantly different from the common distribution, and to adjust simultaneously for maternal age, time (in grouped years) and the random variation between registries. The maternal age-standardised prevalence (standardised to the year 2000 European maternal age structure) increased almost fourfold from 0.54 [95% Credible Interval (CrI) 0.37, 0.75] per 10 000 births in 1980–84 to 2.12 [95% CrI 1.85, 2.40] per 10 000 births in 2000–02. The relative risk of gastroschisis for mothers <20 years of age in 1995–2002 was 7.0 [95% CrI 5.6, 8.7]. There were geographical differences within Europe, with higher rates of gastroschisis in the UK, and lower rates in Italy after adjusting for maternal age. After standardising for regional variation, our results showed that the increase in risk over time was the same for mothers of all ages – the increase for mothers <20 years was 3.96-fold compared with an increase of 3.95-fold for mothers in the other age groups. These findings indicate that the phenomenon of increasing gastroschisis prevalence is not restricted to younger mothers only. [ABSTRACT FROM AUTHOR]

The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs and without chromosomal anomalies, born 1997–2002, were included. The 14 registries identified 1047 liveborn infants with one or more GIMs (oesophageal atresia, duodenal atresia, omphalocele, gastroschisis and diaphragmatic hernia). Median GA at birth was lower in prenatally diagnosed cases for all five malformations, although not statistically significant for gastroschisis. There was little difference in median birthweight by GA for the pre- and postnatally diagnosed infants. The difference in GA at birth between prenatally and postnatally diagnosed infants with GIMs is enough to increase the risk of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital malformations for liveborn infants. This may be because the benefits of prenatal diagnosis are outweighed by the problems arising from a lower GA at birth. [ABSTRACT FROM AUTHOR]

Background European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than 1 million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for pharmacoepidemiology and drug safety surveillance. Methods The 34 full members and 6 associate members of the EUROCAT network were sent a questionnaire about their data sources on drug exposure and on drug coding. Available data on drug exposure during the first trimester available in the central EUROCAT database for the years 1996-2000 was summarised for 15 out of 25 responding full members. Results Of the 40 registries, 29 returned questionnaires (25 full and 4 associate members). Four of these registries do not collect data on maternal drug use. Of the full members, 15 registries use the EUROCAT drug code, 4 use the international ATC drug code, 3 registries use another coding system and 7 use a combination of these coding systems. Obstetric records are the most frequently used sources of drug information for the registries, followed by interviews with the mother. Only one registry uses pharmacy data. Percentages of cases with drug exposure (excluding vitamins/minerals) varied from 4.4% to 26.0% among different registries. The categories of drugs recorded varied widely between registries. Conclusions Practices vary widely between registries regarding recording drug exposure information. EUROCAT has the potential to be an effective collaborative framework to contribute to post-marketing drug surveillance in relation to teratogenic effects, but work is needed to implement ATC drug coding more widely, and to diversify the sources of information used to determine drug exposure in each registry. Copyright © 2006 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Cerebral palsy (CP) is a relatively rare condition with enormous social and financial impact. Information about CP is not routinely collected in the United Kingdom. We have pooled non-identifiable data from the five currently active UK CP registers to form the UKCP database: birth years 1960–1997. This article describes the rationale behind this collaboration and the creation of the database. Data about 6910 children with CP are currently held. The mean annual prevalence rate was 2.0 per 1000 live births for birth years 1986–1996. Where type is known, 91 per cent have spastic CP. Where data are available, nearly one-third of children have severely impaired lower limb function, and nearly a quarter have severely impaired upper limb function. As well as describing the range and complexity of motor and associated impairments, the pooled data from the UKCP database provide a platform for studies of aetiology, long-term outcomes, participation and service needs. The UKCP database is an important national resource for the surveillance of CP and the study of its epidemiology in the United Kingdom. [ABSTRACT FROM PUBLISHER]

Introduction: Eye anomalies, including anophthalmos and microphthalmos (absent eye and small eye), are common features in congenital infection syndromes such as rubella. Influenza, Coxsackie virus, and Parvovirus are less well-established teratogens. We report an ecologic analysis of anophthalmia/microphthalmia prevalence in England in relation to temporal variation in these infections using routine infection data.Methods: The national (England) anophthalmos/microphthalmos register holds details of 406 babies (excluding chromosomal anomalies) born 1988-1994. Weekly infection data were obtained from the U.K. Public Health Laboratory Service and Royal College of General Practitioners Weekly Returns Service. We assigned cases and births an estimated exposure based on the population infection counts in the gestational weeks known to be critical for ocular development. We calculated the rate ratio of anophthalmos/microphthalmos prevalence for infection in the 90th percentile compared with the 10th percentile by Poisson regression.Results: There was a positive association between severe anophthalmos/microphthalmos prevalence and Parvovirus B19 (rate ratio = 1.26; 95% confidence interval = 1.00-1.58) and for influenza (1.41; 1.08-1.84). Coxsackie virus showed a negative association with any anophthalmos/microphthalmos (0.75; 0.58-0.98) and with severe cases (0.66; 0.46-0.95).Conclusions: This analysis provides suggestive evidence for a teratogenic role of influenza and Parvovirus in anophthalmos/microphthalmos. The role of maternal infections in congenital anomaly etiology is worthy of further investigation. [ABSTRACT FROM AUTHOR]

A European multicenter study (Surveillance of Cerebral Palsy in Europe, SCPE) was used to describe changes over time in multiple birth rates and cerebral palsy (CP) rates among multiple born infants, to compare CP rates and clinical types between multiples and singletons, and to analyse the influence of birth order in twins. Data were collected from 12 European population-based CP registers on 6613 children born in 1975–90, as well as demographic data. The rate of multiple birth in the populations increased from 1.9% in 1980 to 2.4% in 1990, and the proportion of multiples among CP infants increased from 4.6% in 1976 to 10% in 1990. Multiples have a four times higher rate of CP than singletons [7.6 vs. 1.8 per 1000 live births, relative risk (RR) 4.36; 95% confidence interval (CI) 3.76–4.97] overall. The risk is marginally higher in multiples with birthweight > 2500 g (RR 1.60; 95% CI 0.95–2.28) and born at term (RR 1.65; 95% CI 0.91–2.40), and there is no difference in the risk for the low-birthweight and preterm groups. Correcting for differences in gestational age and birthweight, the clinical type of CP was the same in multiples and singletons. Twin CP infants are more often second than first born (56% vs. 44%, p < 0.05). Multiple born infants have a four times higher risk of developing cerebral palsy than singletons, mainly related to the higher risk of preterm birth in multiples. As the rate of multiples doubled through the 1980s, cerebral palsy cases in multiples increased in the same period. [ABSTRACT FROM AUTHOR]

A study to assess the association between the prevalence of hypospadias and maternal occupational exposure to potential endocrine-disrupting chemicals was carried out using data from the congenital anomaly register of the Office for National Statistics. The occupation of the mother is recorded in this register and to facilitate the assessment of maternal occupational exposure, a specific job–exposure matrix for potential endocrine-disrupting chemicals was developed. Seven categories of contaminants were evaluated (pesticides, polychlorinated organic compounds, phthalates, alkylphenolic compounds, bi-phenolic compounds, heavy metals and other substances). Maternal occupations were all coded using the 1980 version of Categories of Occupations. Three occupational hygienists assessed the likelihood of exposure (unlikely, possible, probable) to these seven substance groups for all 348 possible job titles independently. Almost 30% of the job titles were classified as exposed to at least one substance category (possible or probable), with ∼16% of the job titles being probably exposed to at least one substance category. Some examples of occupations with probable exposure to potential endocrine-disrupting chemicals include: farm workers, electricians, workers in the plastics industry, painters, printers, hairdressers, dental practitioners, laboratory workers, textile workers and cleaners. It is recognized that there are a lot of limitations to the use of job–exposure matrices in general and with the matrix presented in this paper in particular. However, the matrix forms the basis on which further developments on occupational exposure assessment of potential endocrine-disrupting chemicals could be founded. In addition, the job–exposure matrix has identified areas where more exposure information is required. For example, exposure to potential endocrine-disrupting chemicals can occur in occupations such as hairdressing and workers in beauty salons, where the working population is more likely to be female and for which little data exist on levels of exposure. [ABSTRACT FROM PUBLISHER]