Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>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.</p

Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)

Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant. Methods: data on 804 pregnant women out of 2 158 (37.3%) referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study. Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9%) were identified during pregnancy and 607 (65.1%) were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P&lt;0.01) had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of &gt;10% for the unborn child was established. Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered

Emilia-Romagna Study on Pregnancy and Exposure to Antiepileptic drugs (ESPEA): a population-based study on prescription patterns, pregnancy outcomes and fetal health

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

Prevalence and associated factors for agenesis of corpus callosum in Emilia Romagna (1981–2015)

Agenesis and hypoplasia of the corpus callosum (ACC and HCC) are heterogeneous group with a large variation in published prevalence based on few population based studies. The aim of this work is to describe prevalence, associated factors and other malformations present in cases with either agenesis or hypoplasia of the corpus callosum, using a population-based database of all malformations diagnosed in Emilia-Romagna, Italy, (the Emilia-Romagna Registry on Congenital Malformations, IMER). This registry links and integrates hospital discharge records, birth certificates with cases reported by referral clinicians to identify all structural malformations diagnosed within one year of life regarding live birth, fetal death or termination of pregnancy due to fetal malformations (TOPFA). During the study period (1981–2015) the number of cases with ACC or HCC was 255, in a reference population of 1,023,784 live births, giving an overall prevalence of 2.49 per 10,000 (1.47 per 10,000 only live birth). After 1996, with the inclusion of TOPFA in IMER registry, the overall prevalence rate increase significantly from 1.42 to 3.03 cases per 10,000 birth (p-value<0.001). Prenatal diagnosis was made in 192 cases (75.3%), at a median gestational age of 20.7 [IQR: 19.71–22.71]. Termination of pregnancy occurred in 105 of the 255 cases (41,2%). Where a prenatal diagnosis was available, 55% of cases ended in TOPFA (105/192), with higher prevalence of cases associated to central nervous system malformations and multiple birth defects, and median gestational age at diagnosis significantly less than in live birth cases (20.3 vs 29 weeks). Agenesis/hypoplasia ratio was 5.7 (217/38). The most frequently associated malformations were musculoskeletal. Trisomies were the most frequent chromosomal anomalies, in particularly trisomy18 and 13 (respectively 9/32 and 4/32 cases). Our study showed an increased risk for male infants (RR of 1.68, RR 95% CI 1.19–2.37). No differences were detected analyzing maternal age and ethnicity, and the increased risk associated to preterm birth disappeared when compared with other malformed infants. This is one of the few population based studies dealing with prevalence of agenesis and hypoplasia of corpus callosum. Prevalence is still debated, but this study adds comprehensive data, in particular inclusion of TOPFA cases. Early prenatal diagnosis, not always possible, could be crucial for decision making regarding continuation of pregnancy

Epidemiology of orofacial clefts in Emilia Romagna and Tuscany Regions

Background and aim Epidemiological information gathered through Birth defects surveillance is an important adjunct to carrying out clinical and etiological research. Methods An Italian epidemiological investigation on Orofacialclefts (OFCs) conducted by the Congenital Malformation Registries of Emilia/Romagna (http://www.registroimer.it/) and Tuscany (http://www.rtdc.it/) in the period 2001–2011 identified 751 of OFC cases among 724.944 with an overall birth prevalence of 1.04/1,000. Birth prevalence of OFC variessignificantly in Europe ranging from 6,2 to 22,9 with a European mean value of1,45, showing a clear difference between the north and south of Europe (http://www.eurocat-network.eu/). The complex model of inheritance and the frequently conflicting results in different populations on the role of genes that constitute risk factors, suggest the presence of real biological differences. Results Recorded cases included 166 (22%) CL, 286 (38%) CLP and 299 (40%) CP. A predominance of males among CL (P) (M/F 1,60) and of females among CP (M/F 0,79) as confirmed. Among 751 of OFC cases, 661 were live births (88.0%), 7 stillbirths (0.9%), while 83 (11.1%) were terminations of pregnancy.522 cases (69%) were isolated, 118 cases (16%) OFC were present in recognised condition, and 111 cases (15%) were associated with other congenital malformations (MCA). The study confirmed that cardiovascular (27%), musculoskeletal (21%) and central nervous system (21%) defects are frequently associated. Conclusions Thus a routine screening for other malformations may need to be considered in infants with OFC and a multidisciplinary approach of these patients to be organised starting from birth

Maspin and mammaglobin genes are specific markers for RT-PCR detection of minimal residual disease in patients with breast cancer

This study evaluates the specificity of some reverse-transcriptase polymerase chain reaction (RT-PCR) assays for the detection of residual tumor cells in breast cancer patients. The following markers have been analysed: carcinoembryonic antigen (CEA), cytokeratins (CK19 and CK20), polymorphic epithelial mucin (MUC-1), epidermal growth factor receptor (EGFR), maspin, and mammaglobin. RT-PCR was employed to detect breast cancer cells in peripheral blood (PB), bone marrow (BM), and stem cell leukoaphereses (PBPC)

Trihalomethanes, chlorite, chlorate in drinking water and risk of congenital anomalies: A population-based case-control study in Northern Italy

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

Trihalomethanes, chlorite, chlorate in drinking water and risk of congenital anomalies: A population-based case-control study in Northern Italy

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