Search

Introduction: Hypospadias is one of the most common congenital anomalies in male infants, defined as incomplete development of the urethra. Despite the wealth of literature, there are conflicting data on the values and trends of prevalence, due to multifactorial origin but often also to methodological differences between studies. The aim of this study was to analyse prevalence, trends and risk factors of hypospadias in the Emilia Romagna Region, Italy., Material and Methods: The Emilia-Romagna Registry (IMER) is a population-based congenital anomaly database covering the first year of life, active since 1978. IMER uses multi-source ascertainment, including hospital discharge records (SDO) from 2009, through a validated algorithm. From 2014, IMER changed the algorithm, and included all hypospadias identified in SDO, and not only those confirmed by surgery. All cases identified in the IMER database, coded 7526.01-7526.09 or Q54.0-Q54.9 in 2010-2016, were analysed., Result and Discussion: A total of 604 hypospadias cases were registered among 267,285 births; 526 were isolated, giving a prevalence of 2 per 1000. An increase from 1.6 in 2010 to 2.9 in 2016 was seen. The comparison between consecutive years was not significant neither from 2010 to 2013 nor in the period 2014-2016. There was instead a significant difference between the two periods, suggesting that the ascertainment change in 2014 is probably responsible for the increase. In the last three years analysed, isolated hypospadias prevalence is 2.5 per 1000. In the study period, mother's age over 39 years, multiple birth, preterm birth, small for gestational age, Caucasian compared with Asiatic or Africans were statistically associated with higher hypospadias prevalence. There was no association neither between hypospadias and paternal age nor maternal body mass index or assisted reproductive technology., Conclusion: Whilst hypospadias prevalence trend is debated in the literature, in IMER it seems to be stable, with methodological changes affecting the trends. Risk factors potentially involved in developing hypospadias are environment and population characteristics, so understanding and monitoring hypospadias prevalence remains important., Competing Interests: Conflicts of interest All the authors listed above do not have any conflicts of interest to declare., (Copyright © 2020 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Objectives: To assess the prevalence of antiepileptic drug (AED) exposure in pregnant women and the comparative risk of terminations of pregnancy (TOPs), spontaneous abortions, stillbirths, major birth defects (MBDs), neonatal distress and small for gestational age (SGA) infants following intrauterine AED exposure in the Emilia Romagna region, Italy (4 459 246 inhabitants on 31 December 2011)., Methods: We identified all deliveries and hospitalised abortions in Emilia Romagna in the period 2009-2011 from the certificate of delivery assistance registry (Certificato di Assistenza al Parto- CedAP) and the hospital discharge card registry, exposure to AEDs from the reimbursed drug prescription registries, MBDs from the regional registry of congenital malformations, and Apgar scores and cases of SGA from the CedAP. Records from different registries were linked., Results: We identified 145 243 pregnancies: 111 284 deliveries, 16 408 spontaneous abortions and 17 551 TOPs. Six hundred and eleven pregnancies (0.42%; 95% Cl 0.39 to 0.46) were exposed to AEDs. In the AED-exposed group 21% of pregnancies ended in TOPs vs 12% in the non-exposed women (OR: 2.24; 95% CI 1.41 to 3.56). Rates of spontaneous abortions, stillbirths, neonatal distress and SGA were comparable. Three hundred and fifty-three babies (0.31%; 95% CI 0.28 to 0.35) were exposed to AEDs during the first trimester. MBD rates were 2.3% in the exposed vs 2.0% in the non-exposed pregnancies (OR: 1.12, 95% CI 0.55 to 2.55)., Conclusion: The Emilia Romagna prevalence of AED exposure in pregnancy was 0.42%, comparable with previous European studies. Rates of spontaneous abortions, stillbirths, neonatal distress, SGA and MBDs following AED exposure were not significantly increased. The rate of TOPs was significantly higher in the AED-exposed women., Competing Interests: Competing interests: BM and FB received a personal fee for an advisory board from EISAI., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Objectives: to evaluate and validate the use of an algorithm designed to identify in hospital discharge records (SDO) cases with congenital malformations (MC) at birth and/or reported in hospitalizations within the first year of life using as gold standard the Congenital malformation Registry of the Local Health Unit of Mantova, Northern Italy, (RMC-MN), which controls all the medical records of infants born to mothers living in the province., Design: an algorithm designed for the identification of malformed cases in the SDO database using two modules, one for identification of cases potentially malformed and one for their validation was used. A comparison of the results with those observed by the RMC-MN was then conducted., Setting and Participants: data of the SDO and the RMC-MN for the period 2010-2011 relative to those detected in newborns within the first year of life in the resident population in the province., Results: of 8,042 infants born to mothers residing in the province of Mantova, 7,367 were excluded by the algorithm as malformed with the exception of only one false negative (negative predictive value - NPV: 99.99%); in the remaining 675 cases (8.4%) there was at least one code of congenital malformation. The algorithm has also included 396 cases (4.9%) with isolated minor malformations or diseases considered not malformations, of which 23 were false negatives (NPV: 94.2%). In the remaining 279 cases potentially malformed the algorithm considered as validated 169 cases (60.6%), including 11 false positives (positive predictive value - PPV: 93.5%). In the remaining 110 cases to evaluate, 46 were true positives (PPV: 41.8%)., Conclusions: the proposed instrument has identified correctly SDO in 89.4% of cases registered by the RMC-MN to produce a small number of false positives among the validated cases (6.5%) and effectively exclude inappropriate cases (94.2%). The authors suggest a judicious use of the instrument, which should be led by experts of SDO, clinical and epidemiology of congenital malformations.

A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories., (Copyright © 2015 Elsevier B.V. All rights reserved.)

To assess the use and safety of calcium hydroxylapatite for volume restoration of the face and hands in clinical practice, subjects from four Italian aesthetic clinics who had received calcium hydroxylapatite augmentation treatment between January 2012 and December 2013 were recruited. Records were retrospectively reviewed for demographic characteristics, number of treatments, area treated, injection depth and volume, method of administration, and adverse events. A total of 1,783 treatments were administered to 800 subjects (female: 93.5%; mean age: 49.6 years). Overall, 620 (77.5%) subjects were treated over two sessions for a particular indication, and 243 (30.3%) treated over three sessions. The most frequently treated areas were the zygomatic area (men: 30.2%; women: 30.6% of all treatments), malar area (24.5% and 24.3%), and marionette lines (18.9% and 11.6%). A cannula was used for most treatments (86.7%). Injection volume ranged from 0.4 mL to 1.5 mL. Injection-site swelling and bruising occurred with 18.2% and 11.3% of treatments, respectively. Most cases resolved within one week and two weeks, respectively. No serious/unexpected adverse events occurred. In clinical practice, calcium hydroxylapatite is a versatile, well-tolerated treatment for filling folds and volume restoration of the face and hands.

Maternal diabetes preceding pregnancy may increase the risk of birth defects in the offspring, but not all studies confirm this association, which has shown considerable variation over time, and the effect of having type 1 versus type 2 diabetes is unclear. We conducted a population-based cohort study in the Northern Italy Emilia-Romagna region linking administrative databases with a Birth Defects Registry. From hospital discharge records we identified all diabetic pregnancies during 1997-2010, and a population of non-diabetic parturients matched for age, residence, year and delivery hospital. We collected available information on education, smoking and drug prescriptions, from which we inferred the type of diabetes. We found 62 malformed infants out of 2,269 births among diabetic women, and 162 out of 10,648 births among non-diabetic women. The age-standardized prevalence ratio (PR) of malformation associated with maternal pregestational diabetes was 1.79 (95 % confidence interval 1.34-2.39), a value that varied little by age. Type of diabetes strongly influenced the PR, with higher values related to type 2 diabetic women. Most major subgroups of anomalies had PRs above 1, including cardiovascular, genitourinary, musculoskeletal, and chromosomal abnormalities. There was an unusually high PR for the rare defect 'extra-ribs', but it was based on only two cases. This study indicates that maternal pregestational type 2 diabetes is associated with a higher prevalence of specific birth defects in offspring, whereas for type 1 diabetic mothers, particularly in recent years, the association was unremarkable.

Objective: The objective of this study is to evaluate genetic risks already present before pregnancy in a cohort of pregnant women referred for prenatal genetic counseling exclusively for advanced maternal age (AMA)., Method: We retrospectively reviewed the records of 1353 women referred over 1 year (2010) for pre-test genetic counseling with the only indication of AMA at three Italian Clinical Genetic Services., Results: Of the 1353 women fulfilling the inclusion criteria of the study, 87 (6.4%) had cumulatively 94 genetic risk factors not previously identified (one risk factor in 80 patients and two risk factors in seven). Twenty-six risk factors (27.7%) concerned heterogeneous or multifactorial conditions and 68 (72.3%) Mendelian or chromosomal disorders and consanguinity.In nine out of these 87 women, the estimated risk for the offspring of a genetic disease or a significant structural anomaly was >5%. Additional testing according to the identified risks was performed in 36 of these 87 women/families., Conclusions: The proportion of cases with additional risk factors is smaller than reported in previous studies, but it remains substantial and confirms the need for strategies to increase awareness of the public and health professionals responsible for the care of women in childbearing age.

Objectives: implementation and validation of a methodology to link and integrate hospital discharge record (SDO), birth certificate (CeDAP) and the population-based registry of congenital malformations of the Emilia-Romagna Region (IMER). An algorithm has been developed to link registry data and administrative data through the use of indirect patient identifiers in order to exploit the strengths of the different data sources and to expand the pool of existing data available for the analysis., Design: use of IMER Registry, birth certificates and hospital discharge records to assess and diagnose congenital malformations; these data sources vary in terms of availability and accuracy., Setting and Participants: data from IMER Registry, SDO and CeDAP for year 2009 have been used., Results: the main results of the study are: 1. a perfect monitoring system does not exist, the algorithm proposed enabled the integration of three different sources and the evaluation of the capacity to identify different anomalies to be capitalized on; 2. the high number of false positives in audit reporting in 4 hospitals underlines the importance of the contribution of clinical experts in the review of the case to exclude coding errors, clarify unspecific diagnostic categories and identify syndromes; 3. the IMER Registry with over 30 years of experience has been the catalyst for this work by integrating clinical skills in the registry with the public health expertise of other professionals involved in information flows; 4. in the absence of a single comprehensive source of data collection, the advantage of the integration of the information collected from multiple sources is confirmed., Conclusion: birth defects surveillance programmes are critical resources that can provide fundamental information to take sound decisions in healthcare planning and for environmental epidemiology studies. This experience, whilst not mechanically transferable to other areas and circumstances, is a model for the future clinical and epidemiological management of congenital anomalies.

Background: Epidemiological evidence of an association between disinfection by-products (DBPs) exposure via drinking water and reproductive outcomes is still inconclusive., Objective: The aim of this study was to investigate the association between trihalomethanes (THMs), chlorite and chlorate exposure and congenital anomalies., Methods: A case-control study was carried out in Emilia-Romagna Region (Italy). Data on 1917 different congenital anomalies (neural tube, cardiac, diaphragm and abdominal wall, oesophagus, cleft lip and palate, respiratory, urinary tract and chromosomal anomalies) observed in the period 2002-2005 were extracted from the Regional Malformation Registry. Four controls (newborns without anomalies) were randomly selected form the Regional Birth Register and frequency matched to cases according to pregnancy period. The network supplying water during the first trimester of pregnancy was identified on the basis of mother's address: DBPs data, technical and structural information were linked to each subject., Results: Overall, THMs exposure was very low (mean: 3.8±3.6 μg/l), and no risk excess was observed. Chlorite and chlorate values were fairly high (mean: 427±184 μg/l and 283±79 μg/l, respectively). Women exposed to chlorite level >700 μg/l were at higher risk of newborns with renal defects (OR: 3.30; 95% IC: 1.35-8.09), abdominal wall defects (OR: 6.88; 95% IC: 1.67-28.33) and cleft palate (OR: 4.1; 95% IC: 0.98-16.8); women exposed to chlorate level >200 μg/l were at higher risk of newborns with obstructive urinary defects (OR: 2.88; 95% IC: 1.09-7.63), cleft palate (OR: 9.60; 95% IC:1.04-88.9) and spina bifida (OR: 4.94; 95% IC:1.10-22)., Conclusions: This was the first study showing an excess risk of different congenital anomalies related to chlorite and chlorate exposure via drinking water: further research is needed to confirm the observed relationships in large datasets, specifically for chlorate, an unregulated DBP., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Background: Waste incineration releases into the environment toxic substances having a teratogenic potential, but little epidemiologic evidence is available on this topic. We aimed at examining the relation between exposure to the emissions from a municipal solid waste incinerator and risk of birth defects in a northern Italy community, using Geographical Information System (GIS) data to estimate exposure and a population-based case-control study design. By modelling the incinerator emissions, we defined in the GIS three areas of increasing exposure according to predicted dioxins concentrations. We mapped the 228 births and induced abortions with diagnosis of congenital anomalies observed during the 1998-2006 period, together with a corresponding series of control births matched for year and hospital of birth/abortion as well as maternal age, using maternal address in the first three months of pregnancy to geocode cases and controls., Results: Among women residing in the areas with medium and high exposure, prevalence of anomalies in the offspring was substantially comparable to that observed in the control population, nor dose-response relations for any of the major categories of birth defects emerged. Furthermore, odds ratio for congenital anomalies did not decrease during a prolonged shut-down period of the plant., Conclusion: Overall, these findings do not lend support to the hypothesis that the environmental contamination occurring around an incineration plant such as that examined in this study may induce major teratogenic effects.

Some contaminants emitted by municipal waste incinerators are believed to adversely affect reproductive health in the exposed populations; yet only limited and conflicting epidemiologic evidence on this issue has been provided so far. In this study we analyzed rates of spontaneous abortion and prevalence at birth of congenital anomalies in women residing or working near the municipal solid waste incinerator of Modena, northern Italy, during the 2003--2006 period and who experienced higher levels of exposure to polychlorinated dibenzo-p-dioxins and dibenzofurans, compared to the remaining municipal population. In women residing in two areas close to the incinerator plant with increasing exposure to dioxins, we did not detect an excess risk of miscarriage (relative risk [RR] 1.00, 95% confidence interval [CI] 0.65-1.48) and of birth defects (RR 0.64, 95% CI 0.20-1.55), nor did any indication of dose-response relation emerge. Among female workers employed in the factories located in the exposed areas, we did not observe a higher risk of spontaneous abortion (RR 1.04, 95% CI 0.38-2.30); however, an increase in prevalence of birth defects was noted (RR 2.26), although this risk estimate was statistically very unstable (95% CI 0.57-6.14). Overall, the study results provide little evidence of an excess risk of adverse pregnancy outcomes in women exposed to emissions from a modern municipal solid waste incinerator.

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.

Epidemiological and genetic variables for oral clefts were analysed for the years 1981-1989 in a case-control study of congenital malformations in the Emilia Romagna, Veneto, and Friuli regions, and in the Trento and Bolzano hospitals. Birth prevalence for all cases of cleft lip with or without cleft palate (CL(P)) was 8.2 per 10,000 births, and that for cleft palate only (CP) was 6.1 per 10,000. Coexisting abnormalities were found in 23% of CL(P) cases and in 43% of CP. No clusters in time or space were detected. For isolated clefts, a predominance of males among CL(P) and of females among CP was found; epilepsy was the only maternal risk factor correlated with clefts, and an association between clefting and consanguinity was found. Empirical recurrence risks were calculated in both isolated CL(P) and CP.

Data of routine chemical and hematological laboratory tests regarding outpatients were collected in four different hospitals of the provinces of Ferrara, Rovigo and Bologna. Data of about 1500 subjects per hospital were cumulated without preliminary selection of patients; sex, age and pregnancy status were also recorded. At the end of the collection, the second (and third) record of the same patient was discarded; only those referring to the first examination were retained. In this report we consider only the values of the blood sugar level which were obtained by enzymatic methods. Descriptive statistics and regression analysis were performed utilizing a CDC CYBER 70/76 computer. The means and the variances of the data collected at the four hospital laboratories were very similar (Tab 1). The interlaboratory analysis of variance was poorly significant. All frequency distributions were leptocurtic and skewed to the right (Fig. 1). The blood sugar level tend to increase with age (Tab. 2). This correlation is graphically depicted in a two-dimensional plot (Fig 2) in which the regression line and the 2, 5 and 97,5 percentile levels corrected for age were also reported. We think that this diagram may be more helpful to the clinicians interpreting laboratory results than the usual "normal values".